
Hamish Scott
Adelaide Medical School
Faculty of Health and Medical Sciences
Eligible to supervise Masters and PhD - email supervisor to discuss availability.
Professor Hamish Scott - TITLEHOLDER.
Professor Scott completed his PhD in1992. His first post-doc position was at the Women’s and Children’s Hospital and the University of Adelaide. During these 7 years he led the discovery of genes for 3 rare human diseases. After 11 more years this resulted in either FDA approved therapy (2003) or clinical trials of novel therapies for these diseases.
In 1995, Hamish moved to the University of Geneva Medical School in Switzerland. His focus was, and remains, the application of genetic and genomic technologies to understand diseases processes to improve diagnoses and treatment. He led international collaborations in identification of human genes causing Down syndrome and rare forms of genetic deafness and autoimmunity (e.g. arthritis and multiple sclerosis). This continues to have profound effects on our understanding of basic biology of Down syndrome, hearing and the immune system and lead to new therapeutic strategies in these and related diseases. This was also the start of his interest in cancer and leukemia as children with Down syndrome have a low incidence of solid tumours and a high incidence of leukemia. This is also when he started to work on familial predisposition to leukemia.
Hamish relocated to the Walter and Eliza Hall Institute of Medical Research (WEHI) in Melbourne in 2000 as the Inaugural Nossal Leadership Fellow. He was appointed as a National Health and Medical Research Council (NHMRC) senior research fellow in 2001. His laboratory identified 2 additional deafness genes and described the role of a gene in reprogramming the DNA of an “adult” cell from “normal” to become a gamete (sperm or oocyte). He also described a cause of familial predisposition to leukemia.
Since returning to Adelaide in January 2008 he has been Deputy and then Head of the Department of Molecular Pathology at SA Pathology, He is an inaugural member of the Centre for Cancer Biology an Affiliate Professor in both the Schools of Medicine and Molecular and Biomedical Science at the University of Adelaide and an Adjunct Professor in the School of Pharmacy and Medical Sciences in the Division of Health Sciences of the University of South Australia. He is an NHMRC principal research fellow, a Founding Fellow of the Faculty of Science (FFSc) of the Royal College of Pathologists of Australasia (RCPA) and was recently (2015) elected as a Fellow to the Australian Academy of Health and Medical Sciences (FAHMS).
He has led recent international collaborations published in Nat Genet and Blood (x2) on identification of germline mutations in rare families and patients that predispose them to acute myeloid leukemia (AML), infectious diseases, lymphoedema (in GATA2 Embergers syndrome and familial MDS/AML) and diverse hematologic malignancies (in DDX41). This has lead international recognition of the fact that there can be a substantive, sometimes monogenic, predisoposition to haematological malignancies and response to treatments.
He is a Joint Director of the CCB ACRF Cancer Genome Facility established at SA Pathology, the Facilitator of the Genomics, Genetics and Drugable Targets pillar, of the South Australian Comprehensive Cancer Consortium, on the Executive Committee of the South Australian Cancer Research Biobank and the National Steering Committee of the newly NHMRC funded Australian Genomics Health Alliance. In these roles he has been central to introducing introduce new technologies for both somatic and germline genotyping (e.g. using next generation sequencing to SA Pathology at a panel, exome and whole genome level) for improved diagnoses and treatment (personalized medicine) for which his team won an SA Health Award for Excellence.
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Language Competencies
Language Competency French Can read, speak and understand spoken Italian Can read, speak and understand spoken -
Education
Date Institution name Country Title University of Adelaide Australia PhD -
Research Interests
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Journals
Year Citation 2025 Weisburd, B., Sharma, R., Pata, V., Reimand, T., Ganesh, V. S., Austin-Tse, C., . . . O'Donnell-Luria, A. (2025). Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. Genetics in Medicine, 27(4), 101336.
2025 Sharplin, K. M., Vassiliou, C., Nguyen, J., Kuss, B. J., Ting, S. B., Mangos, H., . . . Ross, D. M. (2025). Response to venetoclax in patients with blastic plasmacytoid dendritic cell neoplasm. Leukemia Research, 152, 7 pages.
2025 Toubia, J., Kusay, Y., Maqsood, M., Warnock, N. I., Lawrence, D. M., Bracken, C. P., . . . Schreiber, A. W. (2025). TRanscriptome ANalysis of StratifiEd CohorTs (TRANSECT) enables automated assessment of global gene regulation linked to disparate expression in user defined genes and gene sets. Nar Genomics and Bioinformatics, 7(2), 13 pages.
2025 Wiseman, T., Spooner, M., Khanna, S., Hung, K., Toop, C., Kutyna, M. M., . . . Hiwase, D. K. (2025). RBC Transfusion Dependency Refines the Molecular International Prognostic Scoring System for Myelodysplastic Syndrome.. Blood advances, bloodadvances.2025016086.
2025 Shah, M. V., Hung, K., Baranwal, A., Wechalekar, G., Al-Kali, A., Toop, C. R., . . . Hiwase, D. (2025). Validation of the 5th edition of the World Health Organization and International Consensus Classification guidelines for TP53-mutated myeloid neoplasm in an independent international cohort. Blood Cancer Journal, 15(1), 11 pages.
2025 Kok, C. H., Al-Kali, A., Thomas, D., He, R., Kutyna, M. M., Alkhateeb, H. B., . . . Hiwase, D. K. (2025). RAS Mutation Identifies a Poor Prognostic Molecular Subtype of Therapy-Related Myeloid Neoplasm.. Blood advances, bloodadvances.2025016374.
2025 Homan, C. C., Scott, H. S., & Venugopal, P. (2025). Another Fanconi anemia gene joins the club. Journal of Clinical Investigation, 135(11), e192382-1-e192382-4.
2025 De Sousa, S. M. C., Phan, J. M. N., Wells, A., Wu, K. H. C., & Scott, H. S. (2025). Correction to: Improving detection of monogenic diabetes through reanalysis of GCK variants of uncertain significance (Acta Diabetologica, (2025), 10.1007/s00592-025-02449-8). Acta Diabetologica, 2 pages.
2025 Shah, M. V., Hung, K., Baranwal, A., Kutyna, M. M., Al-Kali, A., Toop, C., . . . Hiwase, D. K. (2025). Evidence-based risk stratification of myeloid neoplasms harboring TP53 mutations.. Blood advances, bloodadvances.2024015238.
Europe PMC12025 Long, S., Schofield, D., Kraindler, J., Vink, R., Ross, K., Hart, N., . . . Roscioli, T. (2025). The PreGen Research Program: Implementing Prenatal Genomic Testing in Australia—A Commentary. Australian and New Zealand Journal of Obstetrics and Gynaecology.
2025 De Sousa, S. M. C., Phan, J. M. N., Wells, A., Wu, K. H. C., & Scott, H. S. (2025). Improving detection of monogenic diabetes through reanalysis of <i>GCK</i> variants of uncertain significance. ACTA DIABETOLOGICA, 7 pages.
2024 Lim, J., Ross, D. M., Brown, A. L., Scott, H. S., & Hahn, C. N. (2024). Germline genetic variants that predispose to myeloproliferative neoplasms and hereditary myeloproliferative phenotypes. Leukemia Research, 146, 10 pages.
Europe PMC12024 Fortuno, C., Cops, E. J., Davidson, A. L., Hadler, J., Innella, G., McKenzie, M. E., . . . Spurdle, A. B. (2024). Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres. European Journal of Human Genetics, 32(12), 1632-1639.
Scopus1 Europe PMC12024 Ball, M., Bouffler, S. E., Barnett, C. B., Freckmann, M. -L., Hunter, M. F., Kamien, B., . . . Christodoulou, J. (2024). Critically unwell infants and children with mitochondrial disorders diagnosed by ultra-rapid genomic sequencing. Genetics in Medicine, 27(1), 101293-1-101293-14.
Scopus22024 Zerella, J. R., Homan, C. C., Arts, P., Lin, X., Spinelli, S. J., Venugopal, P., . . . Hahn, C. N. (2024). Germline ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition. Blood, 144(17), 1765-1780.
Scopus6 Europe PMC32024 Wechalekar, M. D., Zhao, L. -P., Kutyna, M. M., Hong, L. E., Li, J., Hung, K., . . . Hiwase, D. K. (2024). Myeloid neoplasms arising after methotrexate therapy for autoimmune rheumatological diseases do not exhibit poor-risk molecular features. Blood Cancer Journal, 14(1), 116-1-116-5.
Scopus1 Europe PMC12024 Maese, L. D., Wlodarski, M. W., Kim, S. Y., Bertuch, A. A., Bougeard, G., Chang, V. Y., . . . Porter, C. C. (2024). Update on Recommendations for Surveillance for Children with Predisposition to Hematopoietic Malignancy. Clinical Cancer Research, 30(19), 4286-4295.
Scopus3 Europe PMC12024 MacFarland, S. P., Becktell, K., Schneider, K. W., Kuiper, R. P., Lesmana, H., Meade, J., . . . Plon, S. E. (2024). Pediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group. Clinical Cancer Research, 30(20), 4566-4571.
Scopus5 Europe PMC32024 Best, S., Fehlberg, Z., Richards, C., Quinn, M. C. J., Lunke, S., Spurdle, A. B., . . . Stark, Z. (2024). Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services. European Journal of Human Genetics, 32(11), 1-8.
Scopus6 Europe PMC42024 Das, A., MacFarland, S. P., Meade, J., Hansford, J. R., Schneider, K. W., Kuiper, R. P., . . . Tabori, U. (2024). Clinical Updates and Surveillance Recommendations for DNA Replication Repair Deficiency Syndromes in Children and Young Adults. Clinical Cancer Research, 30(16), 3378-3387.
Scopus8 Europe PMC22024 Rogers, A., De Jong, L., Waters, W., Rawlings, L. H., Simons, K., Gao, S., . . . Kassahn, K. S. (2024). Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services. Australian and New Zealand Journal of Obstetrics and Gynaecology, 64(5), 467-474.
Scopus4 Europe PMC42024 Venugopal, P., Arts, P., Fox, L. C., Simons, A., Hiwase, D. K., Bardy, P. G., . . . Scott, H. S. (2024). Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion. Blood Advances, 8(13), 3437-3443.
Scopus1 Europe PMC12024 De Sousa, S. M. C., Mccormack, A., Orsmond, A., Shen, A., Yates, C. J., Clifton-Bligh, R., . . . Scott, H. S. (2024). Increased Prevalence of Germline Pathogenic CHEK2 Variants in Individuals With Pituitary Adenomas. Journal of Clinical Endocrinology and Metabolism, 109(11), 2720-2728.
Scopus3 Europe PMC22024 Hong, L. E., Wechalekar, M. D., Kutyna, M. M., Small, A., Lim, K., Thompson-Peach, C. A., . . . Hiwase, D. K. (2024). IDH-Mutant Myeloid Neoplasms are Associated with Seronegative Rheumatoid Arthritis and Innate Immune Activation. Blood, 143(18), 1873-1877.
Scopus5 Europe PMC22023 Zhou, Z., Ma, X., Lin, Y., Cheng, D., Bavi, N., Secker, G. A., . . . Cox, C. D. (2023). MyoD-family inhibitor proteins act as auxiliary subunits of Piezo channels. Science, 381(6659), 799-804.
Scopus36 WoS2 Europe PMC352023 De Sousa, S. M. C., Wu, K. H. C., Colclough, K., Rawlings, L., Dubowsky, A., Monnik, M., . . . Torpy, D. J. (2023). Identification of monogenic diabetes in an Australian cohort using the Exeter maturity-onset diabetes of the young (MODY) probability calculator and next-generation sequencing gene panel testing. Acta Diabetologica: an international journal devoted to the study of clinical and experimental diabetes and metabolism, 61(2), 181-188.
Scopus1 Europe PMC12023 De Sousa, S. M. C., Shen, A., Yates, C. J., Clifton-Bligh, R., Santoreneos, S., King, J., . . . Scott, H. S. (2023). <i>PAM</i> variants in patients with thyrotrophinomas, cyclical Cushing's disease and prolactinomas. FRONTIERS IN ENDOCRINOLOGY, 14, 10 pages.
Europe PMC32023 Sullivan, P. J., Gayevskiy, V., Davis, R. L., Wong, M., Mayoh, C., Mallawaarachchi, A., . . . Cowley, M. J. (2023). Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications. Genome Biology, 24(1), 1-18.
Scopus9 WoS1 Europe PMC82023 Lunke, S., Bouffler, S. E., Patel, C. V., Sandaradura, S. A., Wilson, M., Pinner, J., . . . Stark, Z. (2023). Integrated multi-omics for rapid rare disease diagnosis on a national scale. Nature Medicine, 29(7), 1681-1691.
Scopus70 WoS1 Europe PMC632023 Zerella, J. R., Homan, C. C., Arts, P., Brown, A. L., Scott, H. S., & Hahn, C. N. (2023). Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy. Frontiers in Oncology, 13, 1-33.
Scopus3 Europe PMC32023 Homan, C. C., Drazer, M. W., Yu, K., Lawrence, D. M., Feng, J., Arriola-Martinez, L. A., . . . Brown, A. L. (2023). Somatic mutational landscape of hereditary hematopoietic malignancies caused by germ line RUNX1, GATA2, and DDX41 variants. Blood Advances, 7(20), 6092-6107.
Scopus22 Europe PMC152023 Hiwase, D. K., Hahn, C. N., Tran, E. N. H., Chhetri, R., Baranwal, A., Al-Kali, A., . . . Shah, M. V. (2023). TP53 mutation in therapy-related myeloid neoplasm defines a distinct molecular subtype. Blood, 141(9), 1087-1091.
Scopus21 WoS7 Europe PMC192023 Homan, C. C., Scott, H. S., & Brown, A. L. (2023). Hereditary platelet disorders associated with germline variants in RUNX1, ETV6 and ANKRD26. Blood, 141(13), 1533-1543.
Scopus28 WoS4 Europe PMC232023 Byrne, A. B., Arts, P., Ha, T. T., Kassahn, K. S., Pais, L. S., O'Donnell-Luria, A., . . . Webber, D. L. (2023). Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death. Nature Medicine, 29(1), 180-189.
Scopus29 WoS5 Europe PMC172023 Kazenwadel, J., Venugopal, P., Oszmiana, A., Toubia, J., Arriola-Martinez, L., Panara, V., . . . Harvey, N. L. (2023). A Prox1 enhancer represses haematopoiesis in the lymphatic vasculature. Nature, 614(7947), 343-348.
Scopus23 WoS6 Europe PMC202023 Shah, M. V., Tran, E. N. H., Shah, S., Chhetri, R., Baranwal, A., Ladon, D., . . . Hiwase, D. K. (2023). TP53 mutation variant allele frequency of ≥10% is associated with poor prognosis in therapy-related myeloid neoplasms. Blood Cancer Journal, 13(1), 51-1-51-9.
Scopus22 WoS2 Europe PMC202023 Samaraweera, S. E., Geukens, T., Casolari, D. A., Nguyen, T., Sun, C., Bailey, S., . . . Ross, D. M. (2023). Novel modes of MPL activation in triple-negative myeloproliferative neoplasms. Pathology, 55(1), 77-85.
Scopus1 Europe PMC12023 Saygin, C., Roloff, G. W., Hahn, C. N., Chhetri, R., Gill, S. I., Elmariah, H., . . . Godley, L. A. (2023). Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies. Blood Advances, 7(4), 549-554.
Scopus34 WoS10 Europe PMC252023 van der Sluijs, P. J., Joosten, M., Alby, C., Attié-Bitach, T., Gilmore, K., Dubourg, C., . . . Santen, G. W. E. (2023). Erratum: Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort (Genetics in Medicine (2022) 24(8) (1753–1760), (S1098360022007274), (10.1016/j.gim.2022.04.010)). Genetics in Medicine, 25(2), 1 page.
Europe PMC12023 Scott, H. S., & Barnett, C. P. (2023). Genomic autopsy offers answers for pregnancy loss and perinatal death. NATURE MEDICINE, 29(1), 41-42.
Europe PMC12023 Stark, Z., Boughtwood, T., Haas, M., Braithwaite, J., Gaff, C. L., Goranitis, I., . . . North, K. N. (2023). Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare. American Journal of Human Genetics, 110(3), 419-426.
Scopus37 WoS4 Europe PMC342023 Flerlage, J. E., Myers, J. R., Maciaszek, J. L., Oak, N., Rashkin, S. R., Hui, Y., . . . Rampersaud, E. (2023). Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma. Blood, 141(11), 1293-1307.
Scopus13 WoS4 Europe PMC122023 Shanmuganathan, N., Wadham, C., Shahrin, N., Feng, J., Thomson, D., Wang, P., . . . Branford, S. (2023). Impact of additional genetic abnormalities at diagnosis of chronic myeloid leukemia for first-line imatinib-treated patients receiving proactive treatment intervention. Haematologica, 108(9), 2380-2395.
Scopus11 WoS2 Europe PMC62023 Ghaoui, R., Ha, T. T., Kerkhof, J., McConkey, H., Gao, S., Babic, M., . . . Kassahn, K. S. (2023). Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis. Neuromuscular Disorders, 33(6), 484-489.
Scopus6 WoS1 Europe PMC42023 Batkovskyte, D., McKenzie, F., Taylan, F., Simsek-Kiper, P. O., Nikkel, S. M., Ohashi, H., . . . Grigelioniene, G. (2023). Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders. Journal of Bone and Mineral Research, 38(5), 692-706.
Scopus9 WoS1 Europe PMC62022 Drazer, M. W., Homan, C. C., Yu, K., Cavalcante de Andrade Silva, M., McNeely, K. E., Pozsgai, M. J., . . . Godley, L. A. (2022). Clonal hematopoiesis in patients with ANKRD26 or ETV6 germline mutations.. Blood Adv, 6(15), 4357-4359.
Scopus17 WoS4 Europe PMC122022 Wu, D., Bampton, T. J., Scott, H. S., Brown, A., Kassahn, K., Drogemuller, C., . . . Coates, P. T. (2022). The clinical and genetic features of hereditary pancreatitis in South Australia.. Medical Journal of Australia, 216(11), 578-582.
Scopus4 Europe PMC22022 van der Sluijs, P. J., Joosten, M., Alby, C., Attié-Bitach, T., Gilmore, K., Dubourg, C., . . . Santen, G. W. E. (2022). Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort. Genetics in Medicine, 24(8), 1753-1760.
Scopus15 WoS4 Europe PMC102022 Shanmuganathan, N., Wadham, C., Thomson, D., Shahrin, N. H., Vignaud, C., Obourn, V., . . . Branford, S. (2022). RNA-Based Targeted Gene Sequencing Improves the Diagnostic Yield of Mutant Detection in Chronic Myeloid Leukemia.. The Journal of molecular diagnostics : JMD, 24(7), 803-822.
Scopus6 WoS1 Europe PMC42022 Lao, L., Bourdeau, I., Gagliardi, L., He, X., Shi, W., Hao, B., . . . Wu, J. (2022). ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia. Nucleic Acids Research, 50(11), 6343-6367.
Scopus22 WoS2 Europe PMC162022 Yıldız Bölükbaşı, E., Karolak, J. A., Szafranski, P., Gambin, T., Matsika, A., McManus, S., . . . Stankiewicz, P. (2022). Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant. European Journal of Human Genetics, 30(10), 1-5.
Scopus4 WoS2 Europe PMC22022 Bournazos, A. M., Riley, L. G., Bommireddipalli, S., Ades, L., Akesson, L. S., Al-Shinnag, M., . . . Williams, M. G. (2022). Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants. Genetics in Medicine, 24(1), 130-145.
Scopus62 WoS28 Europe PMC562022 Scott, H., Byrne, A., Arts, P., Ha, T., Kassahn, K., Pais, L., . . . Barnett, C. (2022). A genomic autopsy identifies causes of perinatal death and provides options to prevent recurrence.
2022 Scott, H., Byrne, A., Arriola, L., Eshraghi, L., Ha, T., Feng, J., . . . Schreiber, A. (2022). Simultaneous Genomic and Metagenomic Analysis for Miscarriage and Stillbirth Further Increases the Diagnostic Utility of Genome Sequencing.
2022 Byrne, A. B., Brouillard, P., Sutton, D. L., Kazenwadel, J., Montazaribarforoushi, S., Secker, G. A., . . . Harvey, N. L. (2022). Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. Science Translational Medicine, 14(634), eabm4869-1-eabm4869-15.
Scopus30 WoS7 Europe PMC182022 Mikaeel, R. R., Young, J. P., Li, Y., Poplawski, N. K., Smith, E., Horsnell, M., . . . Price, T. J. (2022). RNF43 pathogenic Germline variant in a family with colorectal cancer. Clinical Genetics, 101(1), 122-126.
Scopus7 WoS2 Europe PMC62022 Tan, N. B., Pagnamenta, A. T., Ferla, M. P., Gadian, J., Chung, B. H. Y., Chan, M. C. Y., . . . White, S. (2022). Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. Journal of Medical Genetics, 59(5), 511-516.
Scopus5 WoS4 Europe PMC42022 Qian, X., DeGennaro, E. M., Talukdar, M., Akula, S. K., Lai, A., Shao, D. D., . . . Walsh, C. A. (2022). Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. Developmental Cell, 57(20), 2381-2396.e13.
Scopus13 WoS4 Europe PMC112022 Tudini, E., Andrews, J., Lawrence, D. M., King-Smith, S. L., Baker, N., Baxter, L., . . . Shariant Consortium. (2022). Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.. American journal of human genetics, 109(11), 1960-1973.
Scopus18 WoS2 Europe PMC182022 Shah, M., Hahn, C. N., Tran, E. N. H., Sharplin, K. M., Chhetri, R., Baranwal, A., . . . Hiwase, D. (2022). <i>TP53</i> Mutation Status Defines a Distinct Clinicopathological Entity of Therapy-Related Myeloid Neoplasm, Characterized By Genomic Instability and Extremely Poor Outcome. BLOOD, 140(Supplement 1), 9798-9799.
2021 Drazer, M. W., Homan, C. C., Yu, K., de Andrade Silva, M. C., McNeely, K. E., Pozsgai, M. J., . . . Godley, L. A. (2021). Clonal hematopoiesis in individuals with <i>ANKRD26</i> or <i>ETV6</i> germline mutations.
2021 Corboy, G., Othman, J., Lee, L., Wei, A., Ivey, A., Blombery, P., . . . Stevenson, W. (2021). Laboratory quality assessment of candidate gene panel testing for acute myeloid leukaemia: a joint ALLG / RCPAQAP initiative. Pathology, 53(4), 487-492.
2021 Homan, C. C., King-Smith, S. L., Lawrence, D. M., Arts, P., Feng, J., Andrews, J., . . . Brown, A. L. (2021). The RUNX1 Database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.. Haematologica, 106(11), 3004-3007.
Scopus36 WoS20 Europe PMC252021 Homan, C. C., Venugopal, P., Arts, P., Shahrin, N. H., Feurstein, S., Rawlings, L., . . . Hahn, C. N. (2021). Cover, Volume 42, Issue 11. Human Mutation, 42(11).
2021 Homan, C. C., Venugopal, P., Arts, P., Shahrin, N. H., Feurstein, S., Rawlings, L., . . . Hahn, C. N. (2021). GATA2 deficiency syndrome: a decade of discovery. Human Mutation, 42(11), 1399-1421.
Scopus42 WoS13 Europe PMC292021 Samaraweera, S. E., Wang, P. P. S., Li, K. L., Casolari, D. A., Feng, J., Pinese, M., . . . D'Andrea, R. J. (2021). Childhood acute myeloid leukemia shows a high level of germline predisposition. Blood, 138(22), 2293-2298.
Scopus9 WoS5 Europe PMC82021 De Angelis, C., Byrne, A. B., Morrow, R., Feng, J., Ha, T., Wang, P., . . . Barnett, C. (2021). Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia. BMC Medical Genomics, 14(1), 64-1-64-7.
Scopus6 WoS3 Europe PMC72021 Singhal, D., Hahn, C. N., Feurstein, S., Wee, L. Y. A., Moma, L., Kutyna, M. M., . . . Hiwase, D. K. (2021). Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer. Leukemia, 35(11), 3245-3256.
Scopus45 WoS26 Europe PMC372021 Ravindran, E., Jühlen, R., Vieira-Vieira, C. H., Ha, T., Salzberg, Y., Fichtman, B., . . . Kaindl, A. M. (2021). Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders. Human Molecular Genetics, 30(22), 2068-2081.
Scopus14 WoS5 Europe PMC122020 De Sousa, S. M. C., Toubia, J., Hardy, T. S. E., Feng, J., Wang, P., Schreiber, A. W., . . . Torpy, D. J. (2020). Aberrant Splicing of SDHC in Families With Unexplained Succinate Dehydrogenase-Deficient Paragangliomas. Journal of the Endocrine Society, 4(12), 1-12.
Scopus11 WoS6 Europe PMC92020 Brown, A. L., Hahn, C., Hiwase, D., Godley, L. A., & Scott, H. S. (2020). Correct application of variant classification guidelines in germline RUNX1 mutated disorders to assist clinical diagnosis. LEUKEMIA & LYMPHOMA, 61(1), 2 pages.
Scopus2 WoS2 Europe PMC12020 Byrne, A. B., Mizumoto, S., Arts, P., Yap, P., Feng, J., Schreiber, A. W., . . . Scott, H. S. (2020). Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis. Journal of Medical Genetics, 57(7), 454-460.
Scopus13 WoS10 Europe PMC92020 De Sousa, S. M. C., Manavis, J., Feng, J., Wang, P., Schreiber, A. W., Scott, H. S., & Torpy, D. J. (2020). A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing's disease. BMC Endocrine Disorders, 20(1), 6 pages.
Scopus6 WoS4 Europe PMC42020 Venugopal, P., Gagliardi, L., Forsyth, C., Feng, J., Phillips, K., Babic, M., . . . Scott, H. S. (2020). Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss. BMC Medical Genetics, 21(1), 35-1-35-5.
Scopus3 WoS2 Europe PMC22020 Thomson, D. W., Shahrin, N. H., Wang, P. P. S., Wadham, C., Shanmuganathan, N., Scott, H. S., . . . Branford, S. (2020). Aberrant RAG-mediated recombination contributes to multiple structural rearrangements in lymphoid blast crisis of chronic myeloid leukemia. Leukemia, 34(8), 2051-2063.
Scopus32 WoS22 Europe PMC232020 Arts, P., Garland, J., Byrne, A. B., Hardy, T. S. E., Babic, M., Feng, J., . . . Scott, H. S. (2020). Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome. American Journal of Medical Genetics Part A, 182(5), 1273-1277.
Scopus10 WoS9 Europe PMC122020 Brown, A. L., Arts, P., Carmichael, C. L., Babic, M., Dobbins, J., Chong, C. -E., . . . Scott, H. S. (2020). RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML. Blood Advances, 4(6), 1131-1144.
Scopus112 WoS65 Europe PMC852020 Brown, A. L., Hahn, C. N., & Scott, H. S. (2020). Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA). Blood, 136(1), 24-35.
Scopus73 WoS49 Europe PMC672020 Fox, L. C., Tan, M., Brown, A. L., Arts, P., Thompson, E., Ryland, G. L., . . . Blombery, P. (2020). A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability. British Journal of Haematology, 190(5), e297-e301.
Scopus13 WoS12 Europe PMC92019 Byrne, A. B., Arts, P., Polyak, S. W., Feng, J., Schreiber, A. W., Kassahn, K. S., . . . Scott, H. S. (2019). Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6. npj Genomic Medicine, 4(1), 1-8.
Scopus23 WoS11 Europe PMC142019 Lee, H. C., Md Yusof, H. H., Leong, M. P. Y., Zainal Abidin, S., Seth, E. A., Hewitt, C. A., . . . Ling, K. H. (2019). Gene and protein expression profiles of JAK-STAT signalling pathway in the developing brain of the Ts1Cje down syndrome mouse model. International Journal of Neuroscience, 129(9), 871-881.
Scopus12 WoS6 Europe PMC72019 Cheah, J. J. C., Brown, A. L., Schreiber, A. W., Feng, J., Babic, M., Moore, S., . . . Scott, H. S. (2019). A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia. Haematologica, 104(7), e318-e321.
Scopus16 WoS12 Europe PMC152019 Iacobucci, I., Wen, J., Meggendorfer, M., Choi, J. K., Shi, L., Pounds, S. B., . . . Mullighan, C. G. (2019). Genomic subtyping and therapeutic targeting of acute erythroleukemia. Nature genetics, 51(4), 694-704.
Scopus114 WoS68 Europe PMC1022019 Singhal, D., Wee, L. Y. A., Kutyna, M. M., Chhetri, R., Geoghegan, J., Schreiber, A. W., . . . Hiwase, D. K. (2019). The mutational burden of therapy-related myeloid neoplasms is similar to primary myelodysplastic syndrome but has a distinctive distribution. Leukemia, 33(12), 2842-2853.
Scopus48 WoS38 Europe PMC352019 De Sousa, S. M. C., Wang, P. P. S., Santoreneos, S., Shen, A., Yates, C. J., Babic, M., . . . Scott, H. S. (2019). The Genomic Landscape of Sporadic Prolactinomas. Endocrine Pathology, 30(4), 318-328.
Scopus17 WoS8 Europe PMC152019 Shen, A. J. J., King, J., Scott, H., Colman, P., & Yates, C. J. (2019). Insights into pituitary tumorigenesis: from Sanger sequencing to next-generation sequencing and beyond. Expert Review of Endocrinology and Metabolism, 14(6), 399-418.
Scopus9 WoS7 Europe PMC72019 Scott, H. (2019). The Commentaries of D. Garcia de Silva y Figueroa on His Embassy to Shah 'Abbas I of Persia on Behalf of Philip III, King of Spain. RENAISSANCE QUARTERLY, 72(4), 1508-1509.
2019 Yusof, H. H., Lee, H. C., Seth, E. A., Wu, X., Hewitt, C. A., Scott, H. S., . . . Ling, K. H. (2019). Expression Profiling of Notch Signalling Pathway and Gamma-Secretase Activity in the Brain of Ts1Cje Mouse Model of Down Syndrome. Journal of Molecular Neuroscience, 67(4), 632-642.
Scopus4 WoS1 Europe PMC32018 De Sousa, S. M. C., Hardy, T. S. E., Scott, H. S., & Torpy, D. J. (2018). Genetic testing in endocrinology. Clinical Biochemist Reviews, 39(1), 17-28.
Scopus16 Europe PMC82018 Al Seraihi, A. F., Rio-Machin, A., Tawana, K., Bödör, C., Wang, J., Nagano, A., . . . Fitzgibbon, J. (2018). GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML. Leukemia, 32(11), 2502-2507.
Scopus51 WoS40 Europe PMC472018 Branford, S., Wang, P., Yeung, D. T., Thomson, D., Purins, A., Wadham, C., . . . Hughes, T. P. (2018). Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high-risk disease. Blood, 132(9), 948-961.
Scopus160 WoS121 Europe PMC1202018 Beck, D., Thoms, J., Palu, C., Herold, T., Shah, A., Olivier, J., . . . Pimanda, J. (2018). A four-gene lincRNA expression signature predicts risk in multiple cohorts of acute myeloid leukemia patients. Leukemia, 32(2), 263-272.
Scopus37 WoS30 Europe PMC252018 Chong, C. -E., Venugopal, P., Stokes, P., Lee, Y., Brautigan, P., Yeung, D., . . . Scott, H. (2018). Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes. Leukemia, 32(1), 194-202.
Scopus52 WoS40 Europe PMC422018 Scott, H. (2018). Motivation in War: The Experience of Common Soldiers in Old-Regime Europe. JOURNAL OF SOCIAL HISTORY, 51(4), 1106-1107.
2018 Scott, H. (2018). Practices of Diplomacy in the Early Modern World c. 1410-1800. RENAISSANCE QUARTERLY, 71(2), 709-711.
2017 Scott, H. (2017). Russia and Courtly Europe: Ritual and the Culture of Diplomacy, 1648-1725. SLAVONIC AND EAST EUROPEAN REVIEW, 95(4), 766-768. 2017 Scott, H. (2017). The Changing Face of the Holy Roman Empire. AUSTRIAN HISTORY YEARBOOK, 48, 269-280.
WoS12017 Carruthers, V., Nicola, M., Venugopal, P., Hahn, C. N., Scott, H. S., & Revesz, T. (2017). Clinical implications of transient myeloproliferative disorder in a neonate without Down syndrome features. Journal of Paediatrics and Child Health, 53(10), 1018-1020.
Scopus1 WoS1 Europe PMC12017 Oftedal, B., Ardesjö Lundgren, B., Hamm, D., Gan, P., Holdsworth, S., Hahn, C., . . . Scott, H. (2017). T cell receptor assessment in autoimmune disease requires access to the most adjacent immunologically active organ. Journal of Autoimmunity, 81, 1-10.
Scopus7 WoS6 Europe PMC52017 Casolari, D., Nguyen, T., Butcher, C., Iarossi, D., Hahn, C., Bray, S., . . . D'Andrea, R. (2017). A novel, somatic, transforming mutation in the extracellular domain of epidermal growth factor receptor identified in myeloproliferative neoplasm. Scientific Reports, 7(1), 2467-1-2467-9.
Scopus6 WoS5 Europe PMC52017 Cheah, J., Hahn, C., Hiwase, D., Scott, H., & Brown, A. (2017). Myeloid neoplasms with germline DDX41 mutation. International Journal of Hematology, 106(2), 163-174.
Scopus78 WoS59 Europe PMC642017 Porter, C. C., Druley, T. E., Erez, A., Kuiper, R. P., Onel, K., Schiffman, J. D., . . . Nichols, K. E. (2017). Recommendations for surveillance for children with leukemia-predisposing conditions. Clinical Cancer Research, 23(11), e14-e22.
Scopus85 WoS61 Europe PMC572017 Walsh, M. F., Chang, V. Y., Kohlmann, W. K., Scott, H. S., Cunniff, C., Bourdeaut, F., . . . Savage, S. A. (2017). Recommendations for childhood cancer screening and surveillance in DNA repair disorders. Clinical Cancer Research, 23(11), e23-e31.
Scopus96 WoS69 Europe PMC712017 Evans, D. G. R., Salvador, H., Chang, V. Y., Erez, A., Voss, S. D., Druker, H., . . . Tabori, U. (2017). Cancer and central nervous system tumor surveillance in pediatric neurofibromatosis 2 and related disorders. Clinical Cancer Research, 23(12), e54-e61.
Scopus86 WoS54 Europe PMC522017 Evans, D. G. R., Salvador, H., Chang, V. Y., Erez, A., Voss, S. D., Schneider, K. W., . . . Tabori, U. (2017). Cancer and central nervous system tumor surveillance in pediatric neurofibromatosis 1. Clinical Cancer Research, 23(12), e46-e53.
Scopus139 WoS101 Europe PMC972017 Marum, J., Yeung, D., Purins, L., Reynolds, J., Parker, W., Stangl, D., . . . Branford, S. (2017). ASXL1 and BIM germ line variants predict response and identify CML patients with the greatest risk of imatinib failure. Blood Advances, 1(18), 1369-1381.
Scopus19 WoS11 Europe PMC152017 Venugopal, P., Moore, S., Lawrence, D., George, A., Hannan, R., Bray, S., . . . Scott, H. (2017). Self-reverting mutations partially correct the blood phenotype in a Diamond Blackfan Anemia patient. Haematologica, 102(12), e506-e509.
Scopus27 WoS19 Europe PMC182017 De Sousa, S. M. C., Stowasser, M., Feng, J., Schreiber, A. W., Wang, P., Hahn, C. N., . . . Gagliardi, L. (2017). ARMC5 is not implicated in familial hyperaldosteronism type II (FH-II). Journal of Human Hypertension, 31(12), 857-859.
Scopus5 WoS1 Europe PMC42017 De Sousa, S., McCabe, M., Wu, K., Roscioli, T., Gayevskiy, V., Brook, K., . . . McCormack, A. (2017). Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours. European Journal of Endocrinology, 176(5), 635-644.
Scopus33 WoS21 Europe PMC232017 Tiong, I., Casolari, D., Moore, S., Nguyen, T., Van Velzen, M., Zantomio, D., . . . Ross, D. (2017). Apparent ‘JAK2-negative’ polycythaemia vera due to compound mutations in exon 14. British Journal of Haematology, 178(2), 333-336.
Scopus12 WoS10 Europe PMC72016 Ling, K., Brautigan, P., Moore, S., Fraser, R., Leong, M., Leong, J., . . . Scott, H. (2016). In depth analysis of the Sox4 gene locus that consists of sense and natural antisense transcripts. Data in Brief, 7, 282-290.
Scopus4 WoS3 Europe PMC22016 Gagliardi, L., Burt, M., Feng, J., Poplawski, N., & Scott, H. (2016). Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implications. Clinical Endocrinology, 85(3), 495-497.
Scopus1 WoS1 Europe PMC12016 Barnett, C., Nataren, N., Klingler-Hoffmann, M., Schwarz, Q., Chong, C., Lee, Y., . . . Scott, H. (2016). Ectrodactyly and lethal pulmonary acinar dysplasia associated with homozygous FGFR2 mutations identified by exome sequencing. Human Mutation, 37(9), 955-963.
Scopus29 WoS17 Europe PMC172016 Barnett, C. P., Nataren, N. J., Klingler-Hoffmann, M., Schwarz, Q., Chong, C. E., Lee, Y. K., . . . Scott, H. S. (2016). Cover Image, Volume 37, Issue 9. Human Mutation, 37(9), i.
2016 Bracken, C., Scott, H., & Goodall, G. (2016). A network-biology perspective of microRNA function and dysfunction in cancer. Nature Reviews Genetics, 17(12), 719-732.
Scopus592 WoS502 Europe PMC4332016 Ellyard, J. I., Jerjen, R., Martin, J. L., Lee, A., Field, M. A., Jiang, S. H., . . . Vinuesa, C. G. (2016). Identification of a pathogenic variant in TREX1 in early-onset cerebral SLE by whole-exome sequencing.. Pathology, 48 Suppl 1, S47.
2016 De Sousa, S. M. C., Kassahn, K. S., McIntyre, L. C., Chong, C. E., Scott, H. S., & Torpy, D. J. (2016). Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome. BMC Endocrine Disorders, 16(1), 58-1-58-7.
Scopus7 WoS4 Europe PMC42016 Polasek, T. M., Ambler, K., Scott, H. S., Sorich, M. J., Kaub, P. A., Rowland, A., . . . Kichenadasse, G. (2016). Targeted pharmacotherapy after somatic cancer mutation screening. F1000research, 5, 1551.
Scopus11 Europe PMC72016 Ross, D. M., Altamura, H. K., Hahn, C. N., Nicola, M., Yeoman, A. L., Holloway, M. R., . . . Scott, H. S. (2016). Delayed diagnosis leading to accelerated-phase chronic eosinophilic leukemia due to a cytogenetically cryptic, imatinib-responsive TNIP1-PDFGRB fusion gene. Leukemia, 30(6), 1402-1405.
Scopus8 WoS7 Europe PMC72016 Lewinsohn, M., Brown, A. L., Weinel, L. M., Phung, C., Rafidi, G., Lee, M. K., . . . Scott, H. S. (2016). Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies. Blood, 127(8), 1017-1023.
Scopus176 WoS141 Europe PMC1382016 Ling, K., Brautigan, P., Moore, S., Fraser, R., Cheah, P., Raison, J., . . . Scott, H. (2016). Derivation of an endogenous small RNA from double-stranded Sox4 sense and natural antisense transcripts in the mouse brain. Genomics, 107(2-3), 88-99.
Scopus14 WoS12 Europe PMC112016 Polasek, T. M., Ambler, K., Scott, H. S., Sorich, M. J., Kaub, P. A., Rowland, A., . . . Kichenadasse, G. (2016). Targeted pharmacotherapy after somatic cancer mutation screening [version 1; referees: 1 approved]. F1000Research, 5, 1551.
Scopus12016 Scott, H. (2016). Status Interaction during the Reign of Louis XIV. EUROPEAN HISTORY QUARTERLY, 46(1), 187-189.
2016 Davis, Z. B., Cogswell, A., Scott, H., Mertsching, A., Boucau, J., Wambua, D., . . . Barker, E. (2016). A Conserved HIV-1-Derived Peptide Presented by HLA-E Renders Infected T-cells Highly Susceptible to Attack by NKG2A/CD94-Bearing Natural Killer Cells. Plos Pathogens, 12(2), 22 pages.
Scopus62 WoS46 Europe PMC612015 Mordaunt, D., Oftedal, B. E., McLauchlan, A., Coates, D., Waters, W., Scott, H., & Barnett, C. (2015). 8q13.1-q13.2 deletion associated with inferior cerebellar vermian hypoplasia and digital anomalies: A new syndrome?. Pediatric Neurology, 52(2), 230-234.e1.
Scopus2 WoS2 Europe PMC22015 Scott, H. (2015). Two crises and the making of the early modern period: an historiographical review. SOCIAL HISTORY, 40(4), 427-445.
2015 Lim, S., Qu, Z., Kortschak, R., Lawrence, D., Geoghegan, J., Hempfling, A., . . . O'Bryan, M. (2015). HENMT1 and piRNA stability are required for adult male germ cell transposon repression and to define the spermatogenic program in the mouse. PLoS Genetics, 11(10), e1005620-1-e1005620-30.
Scopus100 WoS76 Europe PMC852015 Gagliardi, L., Nataren, N., Feng, J., Schreiber, A., Hahn, C., Conwell, L., . . . Scott, H. (2015). Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss. American Journal of Medical Genetics, Part A, 167(8), 1872-1876.
Scopus10 WoS8 Europe PMC72015 Hardtke-Wolenski, M., Taubert, R., Noyan, F., Sievers, M., Dywicki, J., Schlue, J., . . . Jaeckel, E. (2015). Autoimmune hepatitis in a murine autoimmune polyendocrine syndrome type 1 model is directed against multiple autoantigens. Hepatology, 61(4), 1295-1305.
Scopus40 WoS26 Europe PMC262015 Hu, Z., Scott, H., Qin, G., Zheng, G., Chu, X., Xie, L., . . . Wei, C. (2015). Revealing missing human protein isoforms based on ab initio prediction, RNA-seq and proteomics. Scientific Reports, 5(1), 10940-1-10940-15.
Scopus32 WoS26 Europe PMC182015 Kazenwadel, J., Betterman, K., Chong, C., Stokes, P., Lee, Y., Secker, G., . . . Harvey, N. (2015). GATA2 is required for lymphatic vessel valve development and maintenance. Journal of Clinical Investigation, 125(8), 2979-2994.
Scopus185 WoS138 Europe PMC1362015 Mordaunt, D., McIntyre, L., Salvemini, H., Ibrahim, A., Bratkovic, D., Ketteridge, D., . . . Smith, N. (2015). Presentation of m.3243A>G (MT-TL1; tRNALeu) variant with focal neurology in infancy. American Journal of Medical Genetics, Part A, 167(11), 2697-2701.
Scopus2 WoS3 Europe PMC22015 Hahn, C., Brautigan, P., Chong, C., Janssan, A., Venugopal, P., Lee, Y., . . . Scott, H. (2015). Characterisation of a compound in-cis GATA2 germline mutation in a pedigree presenting with myelodysplastic syndrome/acute myeloid leukemia with concurrent thrombocytopenia. Leukemia, 29(8), 1795-1797.
Scopus9 WoS9 Europe PMC102015 Hahn, C., Ross, D., Feng, J., Beligaswatte, A., Hiwase, D., Parker, W., . . . Scott, H. (2015). A tale of two siblings: two cases of AML arising from a single pre-leukemic DNMT3A mutant clone. Leukemia, 29(10), 2101-2104.
Scopus29 WoS23 Europe PMC282015 Hahn, C., Venugopal, P., Scott, H., & Hiwase, D. (2015). Splice factor mutations and alternative splicing as drivers of hematopoietic malignancy. Immunological Reviews, 263(1), 257-278.
Scopus42 WoS33 Europe PMC382015 Lim, S. L., Qu, Z. P., Kortschak, R. D., Lawrence, D. M., Geoghegan, J., Hempfling, A. -L., . . . O'Bryan, M. K. (2015). Correction: HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse.. PLoS genetics, 11(12), e1005782.
Europe PMC22014 Hiwase, D. K., Hahn, C. N., Babic, M., Moore, S., Butcher, C. M., Kutyna, M. M., . . . Scott, H. S. (2014). Clonal Diversity of Recurrently Mutated Genes in Myelodysplastic Syndromes. BLOOD, 124(21), 3 pages. 2014 Tan, K., Ling, K., Hewitt, C., Cheah, P., Simpson, K., Gordon, L., . . . Scott, H. (2014). Transcriptional profiling of the postnatal brain of the Ts1Cje mouse model of Down syndrome. Genomics Data, 2, 314-317.
Scopus22014 Ling, K., Hewitt, C., Tan, K., Cheah, P., Vidyadaran, S., Lai, M., . . . Scott, H. (2014). Functional transcriptome analysis of the postnatal brain of the Ts1Cje mouse model for Down syndrome reveals global disruption of interferon-related molecular networks. BMC Genomics, 15(1), 624-1-624-19.
Scopus61 WoS54 Europe PMC442014 Ellyard, J., Jerjen, R., Martin, J., Lee, A., Field, M., Jiang, S., . . . Vinuesa, C. (2014). Brief report: identification of a pathogenic variant in TREX1 in early-onset cerebral systemic lupus erythematosus by whole-exome sequencing. Arthritis & Rheumatology, 66(12), 3382-3386.
Scopus65 WoS49 Europe PMC492014 Kassahn, K. S., Scott, H. S., & Caramins, M. C. (2014). Integrating Massively Parallel Sequencing into Diagnostic Workflows and Managing the Annotation and Clinical Interpretation Challenge. Human Mutation, 35(4), 413-423.
Scopus18 WoS17 Europe PMC162014 Parker, W., Phillis, S., Yeung, D., Hughes, T., Scott, H., & Branford, S. (2014). Many BCR-ABL1 compound mutations reported in chronic myeloid leukemia patients may actually be artifacts due to PCR-mediated recombination. Blood, 124(1), 153-155.
Scopus27 WoS21 Europe PMC192014 Gagliardi, L., Schreiber, A., Hahn, C., Feng, J., Cranston, T., Boon, H., . . . Scott, H. (2014). ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia. Journal of Clinical Endocrinology and Metabolism, 99(9), E1784-E1792.
Scopus105 WoS69 Europe PMC742014 Gagliardi, L., Scott, H., Feng, J., & Torpy, D. (2014). A case of Aromatase deficiency due to a novel CYP19A1 mutation. BMC Endocrine Disorders, 14(1), 1-7.
Scopus37 WoS31 Europe PMC152014 Scott, H. S. (2014). When to WES in the Pediatric Disease Clinic? Now!. Human Mutation, 35(1), 5.
2014 Scott, H. (2014). The Holy Roman Empire, 1495-1806. AUSTRIAN HISTORY YEARBOOK, 45, 244-246. 2014 Scott, H. (2014). The Holy Roman Empire, 1495-1806: A European Perspective. AUSTRIAN HISTORY YEARBOOK, 45, 244-246. 2014 Scott, H. (2014). Making Toleration: The Repealers and the Glorious Revolution. JOURNAL OF INTERDISCIPLINARY HISTORY, 44(4), 538-539.
2013 Scott, H. (2013). Ideology and Foreign Policy in Early Modern Europe (1650-1750). ENGLISH HISTORICAL REVIEW, 128(534), 1239-1241.
2013 Scott, H. (2013). Protestant Cosmopolitanism and Diplomatic Culture: Brandenburg-Swedish Relations in the Seventeenth Century. GERMAN HISTORY, 31(3), 413-415.
2013 Scott, H. (2013). Queen's Apprentice: Archduchess Elizabeth, Empress Maria, the Habsburgs, and the Holy Roman Empire, 1554-1569. AUSTRIAN HISTORY YEARBOOK, 44, 327-328.
2013 Shah, S., & Hahn, C. (2013). A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nature Genetics, 45(10), 1226-1231.
Scopus264 WoS189 Europe PMC2072013 Parker, W., Yeoman, A., Jamison, B., Yeung, D., Scott, H., Hughes, T., & Branford, S. (2013). BCR-ABL1 kinase domain mutations may persist at very low levels for many years and lead to subsequent TKI resistance. British Journal of Cancer, 109(6), 1593-1598.
Scopus21 WoS16 Europe PMC132013 Roberts, N., Kortschak, R., Parker, W., Schreiber, A., Branford, S., Scott, H., . . . Adelson, D. (2013). A comparative analysis of algorithms for somatic SNV detection in cancer. Bioinformatics, 29(18), 2223-2230.
Scopus79 WoS67 Europe PMC702013 Molina, L., Fasquelle, L., Nouvian, R., Salvetat, N., Scott, H., Guipponi, M., . . . Delprat, B. (2013). Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression. Human Molecular Genetics, 22(7), 1289-1299.
Scopus30 WoS19 Europe PMC222013 Tan, D., Gan, P., O'Sullivan, K., Hammett, M., Summers, S., Ooi, J., . . . Holdsworth, S. (2013). Thymic deletion and regulatory T cells prevent antimyeloperoxidase GN. Journal of the American Society of Nephrology, 24(4), 573-585.
Scopus39 WoS33 Europe PMC282012 Sharma, A., Tan, T. H., Cheetham, G., Scott, H. S., & Brown, M. P. (2012). Rare and novel epidermal growth factor receptor mutations in non-small-cell lung cancer and lack of clinical response to gefitinib in two cases. Journal of Thoracic Oncology, 7(5), 941-942.
Scopus13 WoS10 Europe PMC52012 Wang, X., Laan, M., Bichele, R., Kisand, K., Scott, H., & Petersen, P. (2012). Post-Aire maturation of thymic medullary epithelial cells involves selective expression of keratinocyte-specific autoantigens. Frontiers in Immonology, 3(MAR), 19:1-19:16.
Scopus94 WoS73 Europe PMC752012 Gagliardi, L., Ling, K., Kok, C., Carolan, J., Brautigan, P., Kenyon, R., . . . Scott, H. (2012). Genome-wide gene expression profiling identifies overlap with malignant adrenocortical tumours and novel mechanisms of inefficient steroidogenesis in familial ACTH-independent macronodular adrenal hyperplasia. Endocrine-Related Cancer, 19(3), 19-23.
Scopus6 WoS6 Europe PMC52012 Leong, D., Komen, J., Hewitt, C., Arnaud, E., McKenzie, M., Phipson, B., . . . Scott, H. (2012). Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene. Journal of Biological Chemistry, 287(24), 20652-20663.
Scopus55 WoS47 Europe PMC462012 Parker, W., Ho, M., Scott, H., Hughes, T., & Branford, S. (2012). Poor response to second-line kinase inhibitors in chronic myeloid leukemia patients with multiple low-level mutations, irrespective of their resistance profile. Blood, 119(10), 2234-2238.
Scopus63 WoS56 Europe PMC482012 Kazenwadel, J., Secker, G., Liu, Y., Rosenfeld, J., Wildin, R., Cuellar-Rodriguez, J., . . . Harvey, N. (2012). Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. Blood, 119(5), 1283-1291.
Scopus242 WoS199 Europe PMC1892012 Torpy, D., Lundgren, B., Ho, J., Lewis, J., Scott, H., & Mericq, V. (2012). CBG Santiago: a novel CBG mutation. Journal of Clinical Endocrinology and Metabolism, 97(1), E151-E155.
Scopus25 WoS21 Europe PMC142012 Rao, N., Butcher, C., Lewis, I., Ross, D., Vaz de Melo, J., Scott, H., . . . D'Andrea, R. (2012). Clonal and lineage analysis of somatic DNMT3A and JAK2 mutations in a chronic phase polycythemia vera patient. British Journal of Haematology, 156(2), 268-270.
Scopus12 WoS12 Europe PMC102012 Hahn, C., & Scott, H. (2012). Spliceosome mutations in hematopoietic malignancies. Nature Genetics, 44(1), 9-10.
Scopus54 WoS43 Europe PMC462011 Parker, W., Lawrence, R., Ho, M., Irwin, D., Scott, H., Hughes, T., & Branford, S. (2011). Sensitive detection of BCR-ABL1 mutations in patients with chronic myeloid leukemia after Imatinib resistance is predictive of outcome during subsequent therapy. Journal of Clinical Oncology, 29(32), 4250-4259.
Scopus81 WoS69 Europe PMC642011 Hahn, C., Chong, C., Carmichael, C., Wilkins, E., Brautigan, P., Li, X., . . . Scott, H. (2011). Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nature Genetics, 43(10), 1012-1019.
Scopus530 WoS424 Europe PMC4072011 Hubert, F., Kinkel, S., Davey, G., Phipson, B., Mueller, S., Liston, A., . . . Heath, W. (2011). Aire regulates the transfer of antigen from mTECs to dendritic cells for induction of thymic tolerance. Blood, 118(9), 2462-2472.
Scopus170 WoS142 Europe PMC1432011 Kont, V., Murumagi, A., Tykocinski, L., Kinkel, S., Webster, K., Kisand, K., . . . Peterson, P. (2011). DNA methylation signatures of the AIRE promoter in thymic epithelial cells, thymomas and normal tissues. Molecular Immunology, 49(3), 518-526.
Scopus31 WoS30 Europe PMC272011 Pomie, C., Vicente, R., Vuddamalay, Y., Lundgren, B., Van der Hoek, M., Enault, G., . . . van Meerwijk, J. (2011). Autoimmune regulator (AIRE)-deficient CD8(+)CD28(low) regulatory T lymphocytes fail to control experimental colitis. Proceedings of the National Academy of Sciences of the United States of America, 108(30), 12437-12442.
Scopus16 WoS16 Europe PMC132011 Fasquelle, L., Scott, H., Lenoir, M., Wang, J., Rebillard, G., Gaboyard, S., . . . Delprat, B. (2011). Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing. Journal of Biological Chemistry, 286(19), 17383-17397.
Scopus72 WoS56 Europe PMC582011 Ling, K., Brautigan, P., Hahn, C., Daish, T., Rayner, J., Cheah, P., . . . Scott, H. (2011). Deep sequencing analysis of the developing mouse brain reveals a novel microRNA. BMC Genomics, 12(1), 1-15.
Scopus53 WoS44 Europe PMC452011 Zamudio, N., Scott, H., Wolski, K., Lo, C., Law, C., Leong, D., . . . O'Bryan, M. (2011). DNMT3L is a regulator of X chromosome compaction and post-meiotic gene transcription. PLoS One, 6(3), 1-12.
Scopus19 WoS15 Europe PMC132011 Butcher, C., Neufing, P., Eriksson, L., Carmichael, C., Wilkins, E., Vaz de Melo, J., . . . D'Andrea, R. (2011). RUNX1 Mutations are rare in chronic phase polycythaemia vera. British Journal of Haematology, 153(5), 672-675.
Scopus2 WoS2 Europe PMC12011 Ling, K., Hewitt, C., Beissbarth, T., Hyde, L., Cheah, P., Smyth, G., . . . Scott, H. (2011). Spatiotemporal regulation of multiple overlapping sense and novel natural antisense transcripts at the Nrgn and Camk2n1 gene loci during mouse cerebral corticogenesis. Cerebral Cortex, 21(3), 683-697.
Scopus34 WoS27 Europe PMC302011 Drini, M., Wong, N., Scott, H., Craig, J., Dobrovic, A., Hewitt, C., . . . Macrae, F. (2011). Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in hyperplastic polyposis syndrome. PLoS One, 6(2), e16831:1-e16831:8.
Scopus9 WoS8 Europe PMC62011 Ahlgren, K., Moretti, S., Lundgren, B., Karlsson, I., Ahlin, E., Norling, A., . . . Lobell, A. (2011). Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model. European Journal of Immunology, 41(1), 235-245.
Scopus42 WoS37 Europe PMC332011 Aricha, R., Feferman, T., Scott, H., Souroujon, M., Berrih-Aknin, S., & Fuchs, S. (2011). The susceptibility of Aire⁻/⁻ mice to experimental myasthenia gravis involves alterations in regulatory T cells. Journal of Autoimmunity, 36(1), 16-24.
Scopus38 WoS32 Europe PMC302011 Kraft, M., Cirstea, I. C., Voss, A. K., Thomas, T., Goehring, I., Sheikh, B. N., . . . Thiel, C. T. (2011). Disruption of the histone acetyltransferase MYST4 leads to a noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. Journal of Clinical Investigation, 121(9), 3479-3491.
Scopus92 WoS75 Europe PMC862010 Scott, H. (2010). Czech, German and Noble: Status and National Identity in Habsburg Bohemia. AUSTRIAN HISTORY YEARBOOK, 41, 269-271. 2010 Scott, H. (2010). One of the reasons why humans, and not sponges or worms, get psychiatric disorders?. Human Mutation, 31(11), V.
2010 Guipponi, M., Li, Q., Hyde, L., Beissbarth, T., Smyth, G., Masters, C., & Scott, H. (2010). SAGE analysis of genes differentially expressed in presymptomatic TgSOD1(G93A) transgenic mice identified cellular processes involved in early stage of ALS pathology. Journal of Molecular Neuroscience, 41(1), 172-182.
Scopus13 WoS12 Europe PMC142010 Jongmans, M., Kuiper, R., Carmichael, C., Wilkins, E., Dors, N., Carmagnac, A., . . . Hoogerbrugge, N. (2010). Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome. Leukemia, 24(1), 242-246.
Scopus84 WoS72 Europe PMC672010 Milicevic, Z., Milicevic, N., Laan, M., Peterson, P., Kisand, K., Scott, H., & Westermann, J. (2010). Ultrastructure of medullary thymic epithelial cells of autoimmune regulator (Aire)-deficient mice. Immunology and Cell Biology, 88(1), 50-56.
Scopus9 WoS10 Europe PMC102010 Hewitt, C., Ling, K., Merson, T., Simpson, K., Ritchie, M., King, S., . . . Voss, A. (2010). Gene network disruptions and neurogenesis defects in the adult Ts1Cje mouse model of Down Syndrome. PLoS One, 5(7), 1-15.
Scopus43 WoS35 Europe PMC332010 Carmichael, C., Wilkins, E., Bengtsson, H., Horwitz, M., Speed, T., Vincent, P., . . . Scott, H. (2010). Poor prognosis in familial acute myeloid leukaemia with combined biallelic CEBPA mutations and downstream events affecting the ATM, FLT3 and CDX2 genes. British Journal of Haematology, 150(3), 382-385.
Scopus18 WoS13 Europe PMC102010 Cowin, P., Gold, E., Aleksova, J., O'Bryan, M., Foster, P., Scott, H., & Risbridger, G. (2010). Vinclozolin exposure in utero induces postpubertal prostatitis and reduces sperm production via a reversible hormone-regulated mechanism. Endocrinology, 151(2), 783-792.
Scopus46 WoS37 Europe PMC292010 Shi, W., de Graaf, C., Kinkel, S., Achtman, A., Baldwin, T., Schofield, L., . . . Smyth, G. (2010). Estimating the proportion of microarray probes expressed in an RNA sample. Nucleic Acids Research, 38(7), 2168-2176.
Scopus20 WoS19 Europe PMC162010 Kedzierska, K., Valkenburg, S., Guillonneau, C., Hubert, F., Cukalac, T., Curtis, J., . . . Davenport, M. (2010). Diversity and clonotypic composition of influenza-specific CD8⁺ TCR repertoires remain unaltered in the absence of Aire. European Journal of Immunology, 40(3), 849-858.
Scopus6 WoS5 Europe PMC32010 Kelly, R., Goren, E., Taylor, P., Mueller, S., Stefanski, H., Osborn, M., . . . Blazar, B. (2010). Short-term inhibition of p53 combined with keratinocyte growth factor improves thymic epithelial cell recovery and enhances T-cell reconstitution after murine bone marrow transplantation. Blood, 115(5), 1088-1097.
Scopus52 WoS43 Europe PMC422010 George, A., Gordon, L., Beissbarth, T., Koukoulas, I., Holsinger, R., Perreau, V., . . . Li, Q. (2010). A serial analysis of gene expression profile of the Alzheimer's disease Tg2576 mouse model. Neurotoxicity Research, 17(4), 360-379.
Scopus56 WoS46 Europe PMC452010 Ko, H., Kinkel, S., Hubert, F., Nasa, Z., Chan, J., Siatskas, C., . . . Alderuccio, F. (2010). Transplantation of autoimmune regulator-encoding bone marrow cells delays the onset of experimental autoimmune encephalomyelitis. European Journal of Immunology, 40(12), 3499-3509.
Scopus17 WoS14 Europe PMC172010 Hanifa, S., Scott, H., Crewther, P., Guipponi, M., & Tan, J. (2010). Thyroxine treatments do not correct inner ear defects in tmprss1 mutant mice. Neuroreport, 21(13), 897-901.
Scopus10 WoS6 Europe PMC32009 Laan, M., Kisand, K., Kont, V., Moll, K., Tserel, L., Scott, H., & Peterson, P. (2009). Autoimmune regulator deficiency results in decreased expression of CCR4 and CCR7 ligands and in delayed migration of CD4⁺ Thymocytes. Journal of Immunology, 183(12), 7682-7691.
Scopus79 WoS73 Europe PMC702009 Hubert, F., Kinkel, S., Crewther, P., Cannon, P., Webster, K., Link, M., . . . Scott, H. (2009). Aire-Deficient C57BL/6 Mice Mimicking the Common Human 13-Base Pair Deletion Mutation Present with Only a Mild Autoimmune Phenotype. Journal of Immunology, 182(6), 3902-3918.
Scopus117 WoS104 Europe PMC952009 Carmichael, C., Majewski, I., Alexander, W., Metcalf, D., Hilton, D., Hewitt, C., & Scott, H. (2009). Hematopoietic defects in the Ts1Cje mouse model of Down syndrome. Blood, 113(9), 1929-1937.
Scopus49 WoS39 Europe PMC432009 Campbell, I., Kinkel, S., Drake, S., Van Nieuwenhuijze, A., Hubert, F., Tarlinton, D., . . . Wicks, I. (2009). Autoimmune regulator controls T cell help for pathogenetic autoantibody production in collagen-induced arthritis. Arthritis and Rheumatism, 60(6), 1683-1693.
Scopus29 WoS28 Europe PMC242009 Fletcher, A., Lowen, T., Sakkal, S., Reiseger, J., Hammett, M., Seach, N., . . . Chidgey, A. (2009). Ablation and Regeneration of Tolerance-Inducing Medullary Thymic Epithelial Cells after Cyclosporine, Cyclophosphamide, and Dexamethasone Treatment. Journal of Immunology, 183(2), 823-831.
Scopus73 WoS63 Europe PMC582009 Milcevic, N., Milicevic, Z., Milkovic, M., Labudovic-Borovic, M., Laan, M., Peterson, P., . . . Westermann, J. (2009). Metallophilic macrophages are fully developed in the thymus of autoimmune regulator (Aire)-deficient mice. Histochemistry and Cell Biology, 131(5), 643-649.
Scopus5 WoS5 Europe PMC52009 Fletcher, A., Seach, N., Reiseger, J., Lowen, T., Hammett, M., Scott, H., & Boyd, R. (2009). Reduced thymic aire expression and abnormal NF-κB2 signaling in a model of systemic autoimmunity. Journal of Immunology, 182(5), 2690-2699.
Scopus25 WoS21 Europe PMC192009 Ling, K., Hewitt, C., Beissbarth, T., Hyde, L., Ghosal, K., Cheah, P., . . . Scott, H. (2009). Molecular networks involved in mouse cerebral corticogenesis and spatio-temporal regulation of Sox4 and Sox11 novel antisense transcripts revealed by transcriptome profiling. Genome Biology (Online Edition), 10(10), 1-31.
Scopus40 WoS31 Europe PMC362009 Gagliardi, L., Hotu, C., Casey, G., Braund, W., Ling, K., Dodd, T., . . . Torpy, D. (2009). Familial vasopressin-sensitive ACTH-independent macronodular adrenal hyperplasia (VPs-AIMAH): clinical studies of three kindreads. Clinical Endocrinology, 70(6), 883-891.
Scopus42 WoS35 Europe PMC292009 Drini, M., Wong, N. C., Scot, H. S., Craig, J. M., Dobrovic, A., Hewitt, C. A., . . . Macrae, F. A. (2009). The role of genetic and epigenetic variation of DNA methyltransferases in hyperplastic polyposis syndrome. JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, 24, A247. 2009 Roberts, N. A., Desanti, G. E., Withers, D. R., Scott, H. R., Jenkinson, W. E., Lane, P. J. L., . . . Anderson, G. (2009). Absence of thymus crosstalk in the fetus does not preclude hematopoietic induction of a functional thymus in the adult. European Journal of Immunology, 39(9), 2395-2402.
Scopus24 WoS24 Europe PMC202008 Scott, H. (2008). <i>Liaisons dangereuses</i>:: Sex, law, and diplomacy in the age of Frederick the great. JOURNAL OF MODERN HISTORY, 80(3), 621-623.
2008 Alimohammadi, M., Bjorklund, P., Hallgren, A., Pontynen, N., Szinnai, G., Shikama, N., . . . Kampe, O. (2008). Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. New England Journal of Medicine, 358(10), 1018-1028.
Scopus250 WoS179 Europe PMC1392008 Guipponi, M., Toh, M., Tan, J., Park, D., Hanson, K., Ballana, E., . . . Scott, H. (2008). An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss. Human Mutation, 29(1), 130-141.
Scopus71 WoS53 Europe PMC522008 Ferguson, B., Alexander, C., Rossi, S., Liiv, I., Rebane, A., Worth, C., . . . Rich, T. (2008). AIRE'S CARD revealed, a new structure for the central tolerance provokes transcriptional plasticity. Journal of Biological Chemistry, 283(3), 1723-1731.
Scopus78 WoS68 Europe PMC692008 Schaller, C., Wang, C., Beck-Engeser, G., Goss, L., Scott, H., Anderson, M., & Wabl, M. (2008). Expression of aire and the early wave of apoptosis in spermatogenesis. Journal of Immunology, 180(3), 1338-1343.
Scopus75 WoS65 Europe PMC632008 Hubert, F., Kinkel, S., Webster, K., Cannon, P., Crewther, P., Proeitto, A., . . . Scott, H. (2008). A specific anti-aire antibody reveals aire expression is restricted to medullary thymic epithelial cells and not expressed in periphery. Journal of Immunology, 180(6), 3824-3832.
Scopus90 WoS82 Europe PMC822008 Seach, N., Ueno, T., Fletcher, A., Lowen, T., Mattesich, M., Engwerda, C., . . . Boyd, R. (2008). The lymphotoxin pathway regulates aire-independent expression of ectopic genes and chemokines in thymic stromal cells. Journal of Immunology, 180(8), 5384-5392.
Scopus95 WoS86 Europe PMC842008 Pitt, L., Hubert, F., Scott, H., Godfrey, D., & Berzins, S. (2008). NKT cell development in the absence of the autoimmune regulator gene (Aire). European Journal of Immunology, 38(10), 2689-2696.
Scopus11 WoS10 Europe PMC92008 Irla, M., Hugues, S., Gill, J., Nitta, T., Hikosaka, Y., Williams, I., . . . Reith, W. (2008). Autoantigen-specific interactions with CD4(+) thymocytes control mature medullary thymic epithelial cell cellularity. Immunity, 29(3), 451-463.
Scopus221 WoS196 Europe PMC1962008 Kisand, K., Link, M., Wolff, A., Meager, A., Tserel, L., Org, T., . . . Peterson, P. (2008). Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genes. Blood, 112(7), 2657-2666.
Scopus93 WoS74 Europe PMC702008 Michaud, J., Simpson, K., Escher, R., Buchet-Poyau, K., Beissbarth, T., Carmichael, C., . . . Scott, H. (2008). Integrative analysis of RUNX1 downstream pathways and target genes. BMC Genomics, 9(1), 1-17.
Scopus110 WoS94 Europe PMC902008 White, A., Withers, D., Parnell, S., Scott, H., Finke, D., Lane, P., . . . Anderson, G. (2008). Sequential phases in the development of Aire-expressing medullary thymic epithelial cells involve distinct cellular input. European Journal of Immunology, 38(4), 942-947.
Scopus77 WoS61 Europe PMC662008 Butcher, C., Hahn, U., To, L., Gecz, J., Wilkins, E., Scott, H., . . . D'Andrea, R. (2008). Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients. Leukemia, 22(4), 870-873.
Scopus62 WoS58 Europe PMC492008 Guipponi, M., Antonarakis, S., & Scott, H. (2008). TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness. Frontiers in Bioscience, 1(13), 1557-1567.
Scopus42 WoS30 Europe PMC282008 Kont, V., Laan, M., Kisand, K., Merits, A., Scott, H. S., & Peterson, P. (2008). Modulation of Aire regulates the expression of tissue-restricted antigens. Molecular Immunology, 45(1), 25-33.
Scopus83 WoS76 Europe PMC752007 Carmichael, C., & Scott, H. (2007). Familial aspects of haematological malignancy. Cancer Forum, 31(3), 160-164. 2007 Scarpino, S., Di Napoli, A., Stoppacciaro, A., Antonelli, M., Pilozzi, E., Chiarle, R., . . . Ruco, L. (2007). Expression of autoimmune regulator gene (AIRE) and T regulatory cells in human thymomas. Clinical and Experimental Immunology, 149(3), 504-512.
Scopus79 WoS61 Europe PMC552007 Hamazaki, Y., Fujita, H., Kobayashi, T., Choi, Y., Scott, H. S., Matsumoto, M., & Minato, N. (2007). Medullary thymic epithelial cells expressing Aire represent a unique lineage derived from cells expressing claudin. Nature Immunology, 8(3), 304-311.
Scopus182 WoS164 Europe PMC1682007 Rossi, S. W., Chidgey, A. P., Parnell, S. M., Jenkinson, W. E., Scott, H. S., Boyd, R. L., . . . Anderson, G. (2007). Redefining epithelial progenitor potential in the developing thymus. European Journal of Immunology, 37(9), 2411-2418.
Scopus81 WoS68 Europe PMC562007 Guipponi, M., Tan, J., Cannon, P. Z. F., Donley, L., Crewther, P., Clarke, M., . . . Scott, H. S. (2007). Mice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, exhibit profound hearing loss. American Journal of Pathology, 171(2), 608-616.
Scopus65 WoS54 Europe PMC442007 Escher, R., Wilson, P., Carmichael, C., Suppiah, R., Liu, M., Kavallaris, M., . . . Scott, H. S. (2007). A pedigree with autosomal dominant thrombocytopenia, red cell macrocytosis, and an occurrence of t(12:21) positive pre-B acute lymphoblastic leukemia. Blood Cells, Molecules, and Diseases, 39(1), 107-114.
Scopus6 WoS4 Europe PMC32007 Chong, S., Vickaryous, N., Ashe, A., Zamudio, N., Youngson, N., Hemley, S., . . . Whitelaw, E. (2007). Modifiers of epigenetic reprogramming show paternal effects in the mouse. Nature Genetics, 39(5), 614-622.
Scopus145 WoS139 Europe PMC1202007 Rossi, S. W., Kim, M. Y., Leibbrandt, A., Parnell, S. M., Jenkinson, W. E., Glanville, S. H., . . . Anderson, G. (2007). RANK signals from CD4+3- inducer cells regulate development of Aire-expressing epithelial cells in the thymic medulla. Journal of Experimental Medicine, 204(6), 1267-1272.
Scopus412 WoS379 Europe PMC3672007 Hewitt, C. A., Carmichael, C. L., Wilkins, E. J., Cannon, P. Z. F., Pritchard, M. A., & Scott, H. S. (2007). Multiplex ligation-dependent probe amplification (MLPA) genotyping assay for mouse models of Down syndrome. Frontiers in Bioscience, 12(8), 3010-3016.
Scopus7 WoS7 Europe PMC62006 George, A. J., Holsinger, R. M. D., McLean, C. A., Tan, S. S., Scott, H. S., Cardamone, T., . . . Li, Q. X. (2006). Decreased phosphatidylethanolamine binding protein expression correlates with Aβ accumulation in the Tg2576 mouse model of Alzheimer's disease. Neurobiology of Aging, 27(4), 614-623.
Scopus61 WoS57 Europe PMC512006 Stevenson, W. S., Hoyt, R., Bell, A., Guipponi, M., Juneja, S., Grigg, A. P., . . . Roberts, A. W. (2006). Genetic heterogeneity of granulocytes for the JAK2 V617F mutation in essential thrombocythaemia: Implications for mutation detection in peripheral blood. Pathology, 38(4), 336-342.
Scopus14 WoS14 Europe PMC122006 Brown, A., Wilkinson, C., Waterman, S., Kok, C., Salerno, D., Diakiw, S., . . . D'Andrea, R. (2006). Genetic regulators of myelopoiesis and leukemic signaling identified by gene profiling and linear modeling. Journal of Leukocyte Biology, 80(2), 433-447.
Scopus37 WoS31 Europe PMC342006 Sang, Q., Kim, M., Kumar, S., Bye, N., Morganti-Kossmann, M., Gunnersen, J., . . . Tan, S. (2006). Nedd4-WW domain-binding protein 5 (Ndfip1) is associated with neuronal survival after acute cortical brain injury. Journal of Neuroscience, 26(27), 7234-7244.
Scopus49 WoS42 Europe PMC422005 Webster, K. E., O'Bryan, M. K., Fletcher, S., Crewther, P. E., Aapola, U., Craig, J., . . . Scott, H. S. (2005). Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis. Proceedings of the National Academy of Sciences of the United States of America, 102(11), 4068-4073.
Scopus246 WoS223 Europe PMC1972005 Guipponi, M., Herbert, S., Toh, M. Y., Poetter, K., Forrest, S., & Scott, H. S. (2005). Universal fluorescent labeling of PCR products for DHPLC analysis: Reducing cost and increasing sample throughput. Biotechniques, 39(1), 34-40.
Scopus3 WoS3 Europe PMC32005 Scott, H. S. (2005). Technophiles seek genomic imperfections with the Greek gods at Atlantis. Nature Genetics, 37(10), 1019-1021.
2005 Brodnicki, T. C., Fletcher, A. L., Pellicci, D. G., Berzins, S. P., McClive, P., Quirk, F., . . . Morahan, G. (2005). Localization of Idd11 is not associated with thymus and NKT cell abnormalities in NOD mice. Diabetes, 54(12), 3453-3457.
Scopus13 WoS13 Europe PMC122005 Smyth, G. K., Michaud, J., & Scott, H. S. (2005). Use of within-array replicate spots for assessing differential expression in microarray experiments. Bioinformatics, 21(9), 2067-2075.
Scopus1130 WoS1082 Europe PMC10922005 Antonarakis, S. E., Reymond, A., Menzel, O., Bekkeheien, R. C. J., Fukai, N., Boye, E., . . . Guipponi, M. (2005). How pathogenic is the p.D104N/endostatin polymorphic allele of <i>COL18A1</i> in Knobloch syndrome?: Reply. HUMAN MUTATION, 25(3), 316.
WoS12005 Suzuki, O. T., Bagatini, K., Sertié, A. L., Passos-Bueno, M. R., Antonarakis, S. E., Reymond, A., . . . Guipponi, M. (2005). How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome? (multiple letters). Human Mutation, 25(3), 314-315.
Scopus3 WoS4 Europe PMC12004 Boon, W. M., Beissbarth, T., Hyde, L., Smyth, G., Gunnersen, J., Denton, D. A., . . . Tan, S. S. (2004). A comparative analysis of transcribed genes in the mouse hypothalamus and neocortex reveals chromosomal clustering. Proceedings of the National Academy of Sciences of the United States of America, 101(41), 14972-14977.
Scopus13 WoS14 Europe PMC132004 Escher, R., Hagos, F., Michaud, J., Sveen, L., Horwitz, M., Olopade, O. I., & Scott, H. S. (2004). No evidence for core-binding factor CBFβ as a leukemia predisposing factor in chromosome 16q22-linked familial AML [7]. Leukemia, 18(4), 881.
Scopus6 WoS4 Europe PMC32004 Menzel, O., Bekkeheien, R. C. J., Reymond, A., Fukai, N., Boye, E., Kosztolanyi, G., . . . Guipponi, M. (2004). Knobloch Syndrome: Novel Mutations in COL18A1, Evidence for Genetic Heterogeneity, and a Functionally Impaired Polymorphism in Endostatin. Human Mutation, 23(1), 77-84.
Scopus93 WoS75 Europe PMC592004 Koukoulas, I., Augustine, C., Silkenbeumer, N., Gunnersen, J. M., Scott, H. S., & Tan, S. S. (2004). Genomic organisation and nervous system expression of radial spoke protein 3. Gene, 336(1), 15-23.
Scopus9 WoS9 Europe PMC82004 Escher, R., Jones, A., Hagos, F., Carmichael, C., Horwitz, M., Olopade, O. I., & Scott, H. S. (2004). Chromosome band 16q22-linked familial AML: Exclusion of candidate genes, and possible disease risk modification by NQO1 polymorphisms. Genes Chromosomes and Cancer, 41(3), 278-282.
Scopus4 WoS4 Europe PMC12004 Liston, A., Gray, D. H. D., Lesage, S., Fletcher, A. L., Wilson, J., Webster, K. E., . . . Goodnow, C. C. (2004). Gene dosage-limiting role of Aire in thymic expression, clonal deletion, and organ-specific autoimmunity. Journal of Experimental Medicine, 200(8), 1015-1026.
Scopus260 WoS232 Europe PMC2162004 Beißbarth, T., Hyde, L., Smyth, G. K., Job, C., Boon, W. M., Tan, S. S., . . . Speed, T. P. (2004). Statistical modeling of sequencing errors in SAGE libraries. Bioinformatics, 20(SUPPL. 1), i31-i39.
Scopus88 WoS84 Europe PMC782004 Escher, R., Mühlematter, D., Scott, H. S., Jotterand, M., & Tobler, A. (2004). Two clonal occurrences of tetrasomy 21 in an atypical chronic myeloid leukemia with wild-type RUNX1 alleles. Additional support for a gene dosage effect of chromosome 21 or RUNX1 in leukemia.. Haematologica, 89(8), ECR26.
Scopus12003 Lalioti, M. D., Antonarakis, S. E., & Scott, H. S. (2003). The epilepsy, the protease inhibitor and the dodecamer: Progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion. Cytogenetic and Genome Research, 100(1-4), 213-223.
Scopus17 WoS16 Europe PMC92003 Friedli, M., Guipponi, M., Bertrand, S., Bertrand, D., Neerman-Arbez, M., Scott, H. S., . . . Reymond, A. (2003). Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12. Gene, 320(1-2), 31-40.
Scopus31 WoS26 Europe PMC282003 Michaud, J., Scott, H. S., & Escher, R. (2003). AML1 interconnected pathways of leukemogenesis. Cancer Investigation, 21(1), 105-136.
Scopus39 WoS33 Europe PMC312003 Blackshaw, S., Kuo, W. P., Park, P. J., Tsujikawa, M., Gunnersen, J. M., Scott, H. S., . . . Cepko, C. L. (2003). MicroSAGE is highly representative and reproducible but reveals major differences in gene expression among samples obtained from similar tissues. Genome Biology, 4(3), 15 pages.
Scopus37 WoS35 Europe PMC222003 Wang, C. Y., Shi, J. D., Yang, P., Kumar, P. G., Li, Q. Z., Run, Q. G., . . . She, J. X. (2003). Molecular cloning and characterization of a novel gene family of four ancient conserved domain proteins (ACDP). Gene, 306(1-2), 37-44.
Scopus99 WoS79 Europe PMC742003 Michaud, J., Scott, H. S., & Escher, R. (2003). Erratum: AML1 interconnected pathways of leukemogenesis (Cancer Investigation (2003) 21:1 (105-136)). Cancer Investigation, 21(4), 659. 2003 Michaud, J., Scott, H. S., & Escher, R. (2003). AML1 interconnected pathways of leukemogenesis (vol 21, pg 105, 2003). CANCER INVESTIGATION, 21(4), 659.
2002 Masmoudi, S., Antonarakis, S. E., Schwede, T., Ghorbel, A. M., Grati, M., Pappasavas, M. P., . . . Guipponi, M. (2002). Erratum: Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness (Human Mutation (2201) 18 (101-108)). Human Mutation, 19(2), 183.
WoS12002 Hyde, L., Tan, S. S., & Scott, H. S. (2002). Traversing the transcriptome. Today S Life Science, 14(6), 30-34. 2002 Heath, W. R., & Scott, H. S. (2002). Immunology: Education and promiscuity. Nature, 420(6915), 468-469.
Scopus3 WoS1 Europe PMC12002 Michaud, J., Wu, F., Osato, M., Cottles, G. M., Yanagida, M., Asou, N., . . . Scott, H. S. (2002). In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: Implications for mechanisms of pathogenesis. Blood, 99(4), 1364-1372.
Scopus343 WoS287 Europe PMC2372002 Guipponi, M., Vuagniaux, G., Wattenhofer, M., Shibuya, K., Vazquez, M., Dougherty, L., . . . Rossier, B. C. (2002). The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro. Human Molecular Genetics, 11(23), 2829-2836.
Scopus151 WoS126 Europe PMC1192002 Wattenhofer, M., Di Iorio, M., Rabionet, R., Dougherty, L., Pampanos, A., Schwede, T., . . . Antonarakis, S. E. (2002). Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients. Journal of Molecular Medicine, 80(2), 124-131.
Scopus64 WoS56 Europe PMC452001 Heino, M., Peterson, P., Kudoh, J., Shimizu, N., Antonarakis, S. E., Scott, H. S., & Krohn, K. (2001). APECED mutations in the autoimmune regulator (AIRE) gene. Human Mutation, 18(3), 205-211.
Scopus129 WoS106 Europe PMC782001 Scott, H. S., & Chrast, R. (2001). Global transcript expression profiling by Serial Analysis of Gene Expression (SAGE).. Genetic Engineering, 23, 201-219.
Scopus13 Europe PMC62001 Wattenhofer, M., Shibuya, K., Kudoh, J., Lyle, R., Michaud, J., Rossier, C., . . . Scott, H. S. (2001). Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains. Human Genetics, 108(2), 140-147.
Scopus47 WoS42 Europe PMC422001 Deutsch, S., Iseli, C., Bucher, P., Antonarakis, S. E., & Scott, H. S. (2001). A cSNP map and database for human chromosome 21. Genome Research, 11(2), 300-307.
Scopus43 WoS39 Europe PMC282001 Bartoloni, L., Blouin, J. L., Maiti, A. K., Sainsbury, A., Rossier, C., Gehrig, C., . . . Antonarakis, S. E. (2001). Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia. Genomics, 72(1), 21-33.
Scopus47 WoS38 Europe PMC332001 Scott, H. S., Kudoh, J., Wattenhofer, M., Shibuya, K., Berry, A., Chrast, R., . . . Antonarakis, S. E. (2001). Insertion of β-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness. Nature Genetics, 27(1), 59-63.
Scopus211 WoS175 Europe PMC1522001 Ben-Yosef, T., Wattenhofer, M., Riazuddin, S., Ahmed, Z. M., Scott, H. S., Kudoh, J., . . . Morell, R. J. (2001). Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness [4]. Journal of Medical Genetics, 38(6), 396-400.
Scopus52 WoS48 Europe PMC392001 Masmoudi, S., Antonarakis, S. E., Schwede, T., Ghorbel, A. M., Gratri, M., Pappasavas, M. P., . . . Guipponi, M. (2001). Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness. HUMAN MUTATION, 18(2), 101-108.
WoS61 Europe PMC472000 Pitkänen, J., Doucas, V., Sternsdorf, T., Nakajima, T., Aratani, S., Jensen, K., . . . Peterson, P. (2000). The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein. Journal of Biological Chemistry, 275(22), 16802-16809.
Scopus212 WoS175 Europe PMC1492000 Aapola, U., Shibuya, K., Scott, H. S., Ollila, J., Vihinen, M., Heino, M., . . . Peterson, P. (2000). Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family. Genomics, 65(3), 293-298.
Scopus242 WoS207 Europe PMC1742000 Berry, A., Scott, H. S., Kudoh, J., Talior, I., Korostishevsky, M., Wattenhofer, M., . . . Bonné-Tamir, B. (2000). Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region. Genomics, 68(1), 22-29.
Scopus21 WoS20 Europe PMC112000 Michaud, J., Kudoh, J., Berry, A., Bonne-Tamir, B., Lalioti, M. D., Rossier, C., . . . Scott, H. S. (2000). Isolation and characterization of a human chromosome 21q22.3 gene (WDR4) and its mouse homologue that code for a WD-repeat protein. Genomics, 68(1), 71-79.
Scopus53 WoS41 Europe PMC422000 Bartoloni, L., Wattenhofer, M., Kudoh, J., Berry, A., Shibuya, K., Kawasaki, K., . . . Antonarakis, S. E. (2000). Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: Mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency. Genomics, 70(2), 190-200.
Scopus29 WoS27 Europe PMC222000 Chrast, R., Scott, H. S., Papasavvas, M. P., Rossier, C., Antonarakis, E. S., Barras, C., . . . Antonarakis, S. E. (2000). The mouse brain transcriptome by SAGE: Differences in gene expression between P30 brains of the partial trisomy 16 mouse model of down syndrome (Ts65Dn) and normals. Genome Research, 10(12), 2006-2021.
Scopus79 WoS75 Europe PMC652000 Chrast, R., Scott, H. S., Madani, R., Huber, L., Wolfer, D. P., Prinz, M., . . . Antonarakis, S. E. (2000). Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome. Human Molecular Genetics, 9(12), 1853-1864.
Scopus95 WoS90 Europe PMC732000 Guipponi, M., Brunschwig, K., Chamoun, Z., Scott, H. S., Shibuya, K., Kudoh, J., . . . Antonarakis, S. E. (2000). C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning. Genomics, 68(1), 30-40.
Scopus21 WoS20 Europe PMC142000 Heino, M., Peterson, P., Sillanpää, N., Guérin, S., Wu, L., Anderson, G., . . . Krohn, K. J. E. (2000). RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse. European Journal of Immunology, 30(7), 1884-1893.
Scopus159 WoS142 Europe PMC1262000 Scott, H. S., Antonarakis, S. E., Mittaz, L., Lalioti, M. D., Younus, F., Mohyuddin, A., . . . Gal, A. (2000). Refined genetic mapping of the autosomal recessive non-syndromic deafness locus DFNB8 on human chromosome 21q22.3.. Advances in Oto Rhino Laryngology, 56, 158-163.
Scopus3 Europe PMC31999 Mittaz, L., Rossier, C., Heino, M., Peterson, P., Krohn, K. J. E., Gos, A., . . . Scott, H. S. (1999). Isolation and characterization of the mouse Aire gene. Biochemical and Biophysical Research Communications, 255(2), 483-490.
Scopus53 WoS52 Europe PMC411999 Chrast, R., Scott, H. S., & Antonarakis, S. E. (1999). Linearization and purification of BAC DNA for the development of transgenic mice. Transgenic Research, 8(2), 147-150.
Scopus25 WoS23 Europe PMC161999 Chen, H., Rossier, C., Morris, M. A., Scott, H. S., Gos, A., Bairoch, A., & Antonarakis, S. E. (1999). A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y. Human Genetics, 105(5), 399-409.
Scopus70 WoS64 Europe PMC601999 Lalioti, M. D., Scott, H. S., & Antonarakis, S. E. (1999). Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1. Human Molecular Genetics, 8(9), 1791-1798.
Scopus45 WoS43 Europe PMC261999 Radhakrishna, U., Bornholdt, D., Scott, H. S., Patel, U. C., Rossier, C., Engel, H., . . . Antonarakis, S. E. (1999). The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; no phenotype prediction from the position of GLI3 mutations. American Journal of Human Genetics, 65(3), 645-655.
Scopus149 WoS130 Europe PMC1191999 Heino, M., Scott, H. S., Chen, Q., Peterson, P., Mäenpää, U., Papasavvas, M. P., . . . Krohn, K. (1999). Mutation analyses of North American APS-1 patients. Human Mutation, 13(1), 69-74.
Scopus109 WoS87 Europe PMC691999 Heino, M., Peterson, P., Kudoh, J., Nagamine, K., Lagerstedt, A., Ovod, V., . . . Krohn, K. (1999). Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla. Biochemical and Biophysical Research Communications, 257(3), 821-825.
Scopus250 WoS219 Europe PMC1811999 Roessler, E., Mittaz, L., Du, Y., Scott, H. S., Chang, J., Rossier, C., . . . Antonarakis, S. E. (1999). Structure of the human Lanosterol Synthase gene and its analysis as a candidate for holoprosencephaly (HPE1). Human Genetics, 105(5), 489-495.
Scopus14 WoS12 Europe PMC111998 Lapenta, V., Sossi, V., Gosset, P., Vayssettes, C., Vitali, T., Rabatel, N., . . . Brahe, C. (1998). Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3. Genomics, 49(1), 1-13.
Scopus13 WoS13 Europe PMC81998 Rosatelli, M. C., Meloni, A., Meloni, A., Devoto, M., Cao, A., Scott, H. S., . . . Antonarakis, S. E. (1998). A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. Human Genetics, 103(4), 428-434.
Scopus231 WoS182 Europe PMC1431998 Guipponi, M., Scott, H. S., Chen, H., Schebesta, A., Rossier, C., & Antonarakis, S. E. (1998). Two isoforms of a human intersectin (ITSN) protein are produced by brain-specific alternative splicing in a stop codon. Genomics, 53(3), 369-376.
Scopus88 WoS80 Europe PMC631998 Lalioti, M. D., Scott, H. S., Genton, P., Grid, D., Ouazzani, R., M'Rabet, A., . . . Antonarakis, S. E. (1998). A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset. American Journal of Human Genetics, 62(4), 842-847.
Scopus62 WoS57 Europe PMC391998 Scott, H. S., Antonarakis, S. E., Lalioti, M. D., Rossier, C., Silver, P. A., & Henry, M. F. (1998). Identification and characterization of two putative human arginine methyltransferases (HRMT1L1 and HRMT1L2). Genomics, 48(3), 330-340.
Scopus147 WoS133 Europe PMC1191998 Scott, H. S., Heino, M., Peterson, P., Mittaz, L., Lalioti, M. D., Betterle, C., . . . Antonarakis, S. E. (1998). Common mutations in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients of different origins. Molecular Endocrinology, 12(8), 1112-1119.
Scopus162 WoS129 Europe PMC931998 Mehenni, H., Gehrig, C., Nezu, J. I., Oku, A., Shimane, M., Rossier, C., . . . Antonarakis, S. E. (1998). Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. American Journal of Human Genetics, 63(6), 1641-1650.
Scopus184 WoS161 Europe PMC1381998 Guipponi, M., Scott, H. S., Kudoh, J., Kawasaki, K., Shibuya, K., Shintani, A., . . . Antonarakis, S. E. (1998). Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: Alternative splicing of mRNA transcripts, genomic structure and sequence. Human Genetics, 103(4), 386-392.
Scopus65 WoS51 Europe PMC391998 Scott, H. S., Kyriakou, D. S., Peterson, P., Heino, M., Tähtinen, M., Krohn, K., . . . Antonarakis, S. E. (1998). Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis. Genomics, 47(1), 64-70.
Scopus23 WoS17 Europe PMC211998 Guipponi, M., Scott, H. S., Hattori, M., Ishii, K., Sakaki, Y., & Antonarakis, S. E. (1998). Genomic structure, sequence, and refined mapping of the human intersectin gene (ITSN), which encompasses 250 kb on chromosome 21q22.1→q22.2. Cytogenetics and Cell Genetics, 83(3-4), 218-220.
Scopus13 WoS11 Europe PMC101998 Peterson, P., Nagamine, K., Scott, H., Heino, M., Kudoh, J., Shimizu, N., . . . Krohn, K. J. E. (1998). APECED: A monogenic autoimmune disease providing new clues to self- tolerance. Immunology Today, 19(9), 384-386.
Scopus94 WoS75 Europe PMC551997 Chicheportiche, Y., Bourdon, P. R., Xu, H., Hsu, Y. M., Scott, H., Hession, C., . . . Browning, J. L. (1997). TWEAK, a new secreted ligand in the tumor necrosis factor family that weakly induces apoptosis. Journal of Biological Chemistry, 272(51), 32401-32410.
Scopus607 WoS563 Europe PMC4641997 White, J. A., McAlpine, P. J., Antonarakis, S., Cann, H., Eppig, J. T., Frazer, K., . . . Povey, S. (1997). Guidelines for human gene nomenclature (1997). Genomics, 45(2), 468-471.
Scopus88 WoS75 Europe PMC601997 Krohn, K., Ovod, V., Vilja, P., Heino, M., Scott, H., Kyriakou, D. S., . . . Peterson, P. (1997). Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3. Biochemical and Biophysical Research Communications, 238(3), 806-810.
Scopus12 WoS9 Europe PMC101997 Lalioti, M. D., Scott, H. S., Buresi, C., Rossier, C., Bottani, A., Morris, M. A., . . . Antonarakis, S. E. (1997). Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature, 386(6627), 847-851.
Scopus302 WoS266 Europe PMC2071997 Mittaz, L., Scott, H. S., Rossier, C., Seeburg, P. H., Higuchi, M., & Antonarakis, S. E. (1997). Cloning of a human RNA editing deaminase (ADARB1) of glutamate receptors that maps to chromosome 21q22.3. Genomics, 41(2), 210-217.
Scopus57 WoS54 Europe PMC491997 Scott, H. S., Chen, H., Rossier, C., Lalioti, M. D., & Antonarakis, S. E. (1997). Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3. Human Genetics, 99(5), 616-623.
Scopus23 WoS21 Europe PMC161997 Mittaz, L., Antonarakis, S. E., Higuchi, M., & Scott, H. S. (1997). Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15. Human Genetics, 100(3-4), 398-400.
Scopus17 WoS15 Europe PMC161997 Chrast, R., Scott, H. S., Chen, H., Kudoh, J., Rossier, C., Minoshma, S., . . . Antonarakis, S. E. (1997). Cloning of two human homologs of the drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region. Genome Research, 7(6), 615-624.
Scopus63 WoS60 Europe PMC421997 Lalioti, M. D., Scott, H. S., & Antonarakis, S. E. (1997). What is expanded in progressive myoclonus epilepsy?. Nature Genetics, 17(1), 17.
Scopus15 WoS12 Europe PMC111997 Nagamine, K., Peterson, P., Scott, H. S., Kudoh, J., Minoshima, S., Heino, M., . . . Shimizu, N. (1997). Positional cloning of the APECED gene. Nature Genetics, 17(4), 393-398.
Scopus1215 WoS1013 Europe PMC8471997 Gatti, R., Di Natale, P., Villani, G., Filocamo, M., Muller, V., Guo, X. H., . . . Hopwood, J. (1997). Mutations among Italian mucopolysaccharidosis Type I patients. Journal of Inherited Metabolic Disease, 20(6), 803-806.
Scopus34 WoS33 Europe PMC231997 Blanch, L., Weber, B., Guo, X. H., Scott, H., & Hopwood, J. (1997). Molecular defects in Sanfilippo syndrome type A. Human Molecular Genetics, 6(5), 787-791.
Scopus43 WoS38 Europe PMC311996 Karageorgos, L., Guo, X. H., Blanch, L., Weber, B., Anson, D., Scott, H., & Hopwood, J. (1996). Structure and sequence of the human sulphamidase gene. DNA Research, 3(4), 269-271.
Scopus45 Europe PMC341996 Weber, B., Blanch, L., Clements, P., Scott, H., & Hopwood, J. (1996). Cloning and Expression of the Gene Involved in Sanfilippo B Syndrome (Mucopolysaccharidosis III B). Human Molecular Genetics, 5(6), 771-777.
Scopus71 WoS66 Europe PMC491996 Antonarakis, S. E., & Scott, H. S. (1996). The human genome project and its impact in medicine. European Review, 4(04), 415.
1996 Antonarakis, S. E., & Scott, H. S. (1996). The human genome project and its impact in medicine. European Review, 4(4), 415-426.
1995 Scott, H., Bunge, S., Gal, A., Clarke, L., Morris, C., & Hopwood, J. (1995). The molecular genetics of mucopolysaccharidosis type I : Diagnostic, clinical and biological implications. Human Mutation, 6(4), 288-302.
Scopus174 WoS154 Europe PMC1201995 Scott, H., Blanch, L., Guo, X. H., Freeman, C., Orsborn, A., Baker, E., . . . Hopwood, J. (1995). Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome. Nature Genetics, 11(4), 465-467.
Scopus136 WoS117 Europe PMC1021994 Bunge, S., Kleijer, W. J., Steglich, C., Beck, M., Zuther, C., Morris, C. P., . . . Gal, A. (1994). Mucopolysaccharidosis type I: Identification of 8 novel mutations and determination of the frequency of the two common α-L-iduronidase mutations (W402X and Q70X) among european patients. Human Molecular Genetics, 3(6), 861-866.
Scopus108 WoS90 Europe PMC701994 Morris, C. P., Guo, X. H., Apostolou, S., Hopwood, J. J., & Scott, H. S. (1994). Morquio a syndrome: Cloning, sequence, and structure of the human n- acetylgalactosamine 6-sulfatase (galns) gene. Genomics, 22(3), 652-654.
Scopus25 WoS18 Europe PMC111994 Clarke, L. A., Nelson, P. V., Warrington, C. L., Morris, C. P., Hopwood, J. J., & Scott, H. S. (1994). Mutation analysis of 19 North American mucopolysaccharidosis type I patients: Identification of two additional frequent mutations. Human Mutation, 3(3), 275-282.
Scopus42 WoS36 Europe PMC271993 Clarke, L. A., & Scott, H. S. (1993). Two novel mutations causing mucopolysaccharidosis type i detected by single strand conformational analysis of the α-L-iduronidase gene. Human Molecular Genetics, 2(8), 1311-1312.
Scopus21 WoS18 Europe PMC151993 Scott, H. S., Litjens, T., Nelson, P. V., Thompson, P. R., Brooks, D. A., Hopwood, J. J., & Phillip Morris, C. (1993). Identification of mutations in the α-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes. American Journal of Human Genetics, 53(5), 973-986.
Scopus87 WoS76 Europe PMC551993 S.scott, H., V.nelson, P., Litjens, T., J.hopwood, J., & Morris, C. P. (1993). Multiple polymorphisms within the α-l-iduronidase gene (IDUA): Implications for a role in modification of mps-i disease phenotype. Human Molecular Genetics, 2(9), 1471-1473.
Scopus40 WoS35 Europe PMC261993 Hopwood, J. J., Vellodi, A., Scott, H. S., Morris, C. P., Litjens, T., Clements, P. R., . . . Wraith, J. E. (1993). Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype. Journal of Inherited Metabolic Disease, 16(6), 1024-1033.
Scopus78 WoS70 Europe PMC441992 Scott, H. S., Nelson, P. V., Cooper, A., Wraith, J. E., Hopwood, J. J., & Morris, C. P. (1992). Mucopolysaccharidosis type I (Hurler syndrome): Linkage disequilibrium indicates the presence of a major allele. Human Genetics, 88(6), 701-702.
Scopus16 WoS13 Europe PMC121992 Scott, H. S., Litjens, T., Hop wood, J. J., & Morris, C. P. (1992). PCR detection of two RFLPs in exon I of the α-L-iduronidase (IDUA) gene. Human Genetics, 90(3), 327.
Scopus10 WoS10 Europe PMC71992 Scott, H. S., Nelson, P. V., MacDonald, M. E., Gusella, J. F., Hopwood, J. J., & Phillip Morris, C. (1992). An 86-bp VNTR within IDUA is the basis of the D4S111 polymorphic locus. Genomics, 14(4), 1118-1120.
Scopus8 WoS9 Europe PMC41992 Scott, H. S., Guo, X. H., Hopwood, J. J., & Morris, C. P. (1992). Structure and sequence of the human α-l-iduronidase gene. Genomics, 13(4), 1311-1313.
Scopus106 WoS89 Europe PMC741992 Koizumi, T., MacDonald, M., Búcan, M., Hopwood, J. J., Morris, C. P., Scott, H. S., . . . Nadeau, J. H. (1992). Linkage, but not gene order, of homologous loci, including α-L-iduronidase (Idua), is conserved in the Huntington disease region of the mouse and human genomes. Mammalian Genome, 3(1), 23-27.
Scopus11 WoS11 Europe PMC71992 Scott, H. S., Litjens, T., Nelson, P. V., Brooks, D. A., Hopwood, J. J., & Morris, C. P. (1992). α‐L‐iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. Human Mutation, 1(4), 333-339.
Scopus82 Europe PMC631992 Scott, H. S., Litjens, T., Hopwood, J. J., & Morris, C. P. (1992). A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype. Human Mutation, 1(2), 103-108.
Scopus75 Europe PMC581991 Scott, H. S., Nelson, P. V., Hopwood, J. J., & Morris, C. P. (1991). PCR of a VNTR linked to mucopolysaccharidosis type I and huntington disease. Nucleic Acids Research, 19(22), 6348.
Scopus23 WoS24 Europe PMC231991 Scott, H. S., Anson, D. S., Orsborn, A. M., Nelson, P. V., Clements, P. R., Morris, C. P., & Hopwood, J. J. (1991). Human α-L-iduronidase: cDNA isolation and expression. Proceedings of the National Academy of Sciences of the United States of America, 88(21), 9695-9699.
Scopus144 WoS138 Europe PMC921991 Scott, H. S., Nelson, P. V., Hopwood, J. J., & Morris, C. P. (1991). PCR of a Kpnl RFLP in the α-l-iduronidase (IDUA) gene. Nucleic Acids Research, 19(20), 5796.
Scopus15 WoS13 Europe PMC131991 MacDonald, M. E., Scott, H. S., Whaley, W. L., Pohl, T., Wasmuth, J. J., Lehrach, H., . . . Gusella, J. F. (1991). Huntington disease-linked locus D4S111 exposed as the α-l-iduronidase gene. Somatic Cell and Molecular Genetics, 17(4), 421-425.
Scopus37 WoS29 Europe PMC261990 Scott, H. S., Ashton, L. J., Eyre, H. J., Baker, E., Brooks, D. A., Callen, D. F., . . . Hopwood, J. J. (1990). Chromosomal Localization of the Human α-L-Iduronidase Gene (IDUA) to 4p16.3. American Journal of Human Genetics, 47(5), 802-807.
Scopus87 WoS71 Europe PMC54 -
Book Chapters
Year Citation 2003 Antonarakis, S., & Scott, H. (2003). Tmprss3. In Genetic Hearing Loss. CRC Press.
DOI -
Conference Papers
Year Citation 2024 Arthurs, A., McCullough, D., Jackson, M., Scott, H., Barnett, C., Dekker, G., & Roberts, C. (2024). CIRCULAR RNAS (CIRCRNAS) CAUSE DNA DAMAGE AND CHARACTERISE ACCELERATED AGEING IN STILLBIRTH PLACENTA. In PLACENTA Vol. 154 (pp. E17). W B SAUNDERS CO LTD. 2024 Blunt, D. N., Harrup, R., Amor, G., Christensen, H., Finlayson, S., Lin, F., . . . Lane, S. W. (2024). Durvalumab and Acalabrutinib for Relapsed/Refractory (r/r) High-Grade B-Cell Lymphoma: MoST15, Open Label Phase II Sub-Study of the Molecular Screening and Therapeutics in Leukaemia and Lymphoma (MoST-LLy) Framework. In BLOOD Vol. 144 (pp. 1728). FL, Orlando: ELSEVIER.
DOI2024 Hiwase, D., Price, Z., Kok, C. H., Kutyna, M., Singhal, D., Shanmuganathan, N., . . . Scott, H. S. (2024). Pathogenic Germline Variants in the DNA Damage Repair Pathway Are Enriched in Patients with Hematologic Malignancies with Prior Exposure to Cytotoxic Therapies Compared to Patients with Multiple Cancers without Prior Exposure. In BLOOD Vol. 144 (pp. 4596-4597). FL, Orlando: ELSEVIER.
DOI2024 Wiseman, T., Spooner, M., Khanna, S., Hung, K., Toop, C., Singhal, D., . . . Hiwase, D. (2024). Higher Rate of Red Blood Cell (RBC) Alloimmunization in RBC-Transfused Myelodysplastic Syndrome Compared to Acute Myeloid Leukemia. In BLOOD Vol. 144 (pp. 1267-1268). FL, Orlando: ELSEVIER.
DOI2024 Shah, M., Hung, K., Baranwal, A., Price, Z., Al-Kali, A., Toop, C., . . . Hiwase, D. (2024). The 66th ASH Annual Meeting Abstract Abstracts. In BLOOD Vol. 144 (pp. 3214). ELSEVIER. 2024 Thuong, H., Byrne, A., Arts, P., Kassahn, K., Pais, L., O'Donnell-Luria, A., . . . Barnett, C. P. (2024). The Australian national genomic autopsy study: a summary of results, outcomes and instructive families from 406 trios/quads. In Abstracts of the 57th European Society of Human Genetics (ESHG, 2024) Conference as published in European Journal of Human Genetics Vol. 32 (pp. 826-827). Berlin, Germany: Springer Nature. 2024 Welland, M., Ahlquist, K., De Fazio, P., Austin-Tse, C., Pais, L., Wedd, L., . . . Stark, Z. (2024). Scalable automated reanalysis in rare disease: achieving high performance while limiting curation burden in diverse clinical and research cohorts. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 32 (pp. 827-828). SPRINGERNATURE. 2024 Wiseman, T., Spooner, M., Khanna, S., Hung, K., Toop, C., Singhal, D., . . . Hiwase, D. (2024). Dynamic Assessment of RBC-Transfusion Dependency (RBC-TD) Improves the Molecular International Prognostic. In BLOOD Vol. 144 (pp. 3209). ELSEVIER.
DOI2023 Kittai, A. S., Huang, Y., Miller, S., Allan, J. N., Bhat, S. A., Bond, D. A., . . . Woyach, J. A. (2023). Outcomes of Patients with Richter Transformation without Prior Chemoimmunotherapy for CLL/SLL: An International Multicenter Retrospective Study. In BLOOD Vol. 142 (pp. 9 pages). CA, San Diego: ELSEVIER.
DOI2023 Shah, M. V., Kutyna, M., Shah, S., Tran, E. N. H., Baranwal, A., Ladon, D., . . . Hiwase, D. (2023). Comparison of World Health Organization and International Consensus Classification Guidelines for Myeloid Neoplasms Harboring TP53-Mutations Using an Independent International Cohort. In BLOOD Vol. 142 (pp. 4 pages). CA, San Diego: ELSEVIER.
DOI2023 Scott, H. S., Zerella, J., Homan, C., Arts, P., Lin, S., Spinelli, S. J., . . . Hahn, C. N. (2023). ERG Is a New Predisposition Gene for Bone Marrow Failure and Hematological Malignancy. In BLOOD Vol. 144 (pp. LBA8). CA, San Diego: ELSEVIER.
DOI2023 Hong, L. E., Kok, C. H., Kutyna, M., Li, J. J., Chhetri, R., Ross, D. M., . . . Hiwase, D. (2023). High Prevalence of IDH Mutation in Myeloid Neoplasm with Concomitant Autoimmune Rheumatic Disorders. In BLOOD Vol. 142 (pp. 4 pages). CA, San Diego: ELSEVIER.
DOI2023 Hiwase, D., Baranwal, A., Shah, S., Kutyna, M., Hahn, C. N., Abdelmajid, M., . . . Shah, M. V. (2023). Single-Hit TP53 mut Is Associated with Poor Outcomes in Therapy-Related but Not De Novo Myelodysplastic Syndromes: Importance of Clinical History. In BLOOD Vol. 142 (pp. 4 pages). CA, San Diego: ELSEVIER.
DOI2023 Bolukbasi, E. Y., Karolak, J., Gambin, T., Szafranski, P., Matsika, A., McManus, S., . . . Stankiewicz, P. (2023). Complex compound inheritance in a four-generation ACDMPV family. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 31 (pp. 116-117). AUSTRIA, Vienna: SPRINGERNATURE. 2022 Saygin, C., Roloff, G. W., Hahn, C. N., Chhetri, R., Gill, S., Elmariah, H., . . . Godley, L. A. (2022). Allogeneic Hematopoietic Stem Cell Transplant Outcomes in Adults with Inherited Myeloid Malignancies. In BLOOD Vol. 140 (pp. 10542-10544). LA, New Orleans: ELSEVIER.
DOI2022 Brown, A. L., Homan, C., Drazer, M. W., Yu, K., Lawrence, D., Feng, J., . . . Godley, L. A. (2022). Somatic Mutational Landscape of Hereditary Hematopoietic Malignancies Associated with Germline Variants in <i>RUNX1</i>, <i>GATA2</i> and <i>DDX41</i>. In BLOOD Vol. 140 (pp. 4030-4033). LA, New Orleans: AMER SOC HEMATOLOGY.
DOI2022 Lin, F. P. -Y., Thavaneswaran, S., Grady, J. P., Napier, C. E., Kansara, M., Sebastian, L., . . . Thomas, D. M. (2022). Molecular therapy selection in treatment-refractory advanced cancers: A retrospective cohort study determining the utility of TOPOGRAPH knowledge base.. In JOURNAL OF CLINICAL ONCOLOGY Vol. 40 (pp. 1 page). ELECTR NETWORK: LIPPINCOTT WILLIAMS & WILKINS. 2022 Wilson, M. R., Eyre, T. A., Kirkwood, A. A., Doo, N. W., Soussain, C., Choquet, S., . . . McKay, P. (2022). Timing of high-dose methotrexate CNS prophylaxis in DLBCL: a multicenter international analysis of 1384 patients. In BLOOD Vol. 139 (pp. 2499-2511). GA, Atlanta: AMER SOC HEMATOLOGY.
DOI WoS242021 Mizumoto, S., Byrne, A., Sugahara, K., Yamada, S., & Scott, H. (2021). Pathogenic variants in uridine diphosphate nucleoti dase (<i>CANT1</i>) or glucuronyltransferase (<i>B3GAT3</i>) causes a pseudodiastrophic dysplasia. In FASEB JOURNAL Vol. 35 (pp. 1 page). ELECTR NETWORK: WILEY.
DOI2021 Hahn, C. N., Feurstein, S. K., Singhal, D., Kutyna, M. M., Chhetri, R., Wee, A., . . . Hiwase, D. (2021). Unexpected High Frequency of Pathogenic Germline Variants in Older Adults with Primary Myelodysplastic Syndrome. In BLOOD Vol. 138 (pp. 4 pages). GA, Atlanta: ELSEVIER.
DOI WoS12020 Mizumoto, S., Byrne, A. B., Sugahara, K., Yamada, S., & Scott, H. S. (2020). A pseudodiastrophic dysplasia is caused by pathogenic variants in calcium-activated nucleotidase-1 and glucuronyltransferase-I. In GLYCOBIOLOGY Vol. 30 (pp. 1080-1081). OXFORD UNIV PRESS INC. 2020 Stephenson, M., Renz, J., & Ge, X. (2020). The Computational Complexity of Angry Birds. In C. Bessiere (Ed.), PROCEEDINGS OF THE TWENTY-NINTH INTERNATIONAL JOINT CONFERENCE ON ARTIFICIAL INTELLIGENCE (pp. 5105-5109). ELECTR NETWORK: IJCAI-INT JOINT CONF ARTIF INTELL. 2020 Kee, D., Kondrashova, O., Ananda, S., Brown, M. P., Cohen, P. A., Dean, A., . . . Scott, C. L. (2020). NOMINATOR: Feasibility of genomic testing of rare cancers to match cancer to treatment.. In JOURNAL OF CLINICAL ONCOLOGY Vol. 38 (pp. 2 pages). ELECTR NETWORK: LIPPINCOTT WILLIAMS & WILKINS. 2019 Shanmuganathan, N., Thomson, D., Wadham, C., Saunders, V. A., Shahrin, N. H., Yeung, D. T., . . . Branford, S. (2019). RNA Splicing Defects in Cancer-Linked Genes Indicate Mutation or Focal Gene Deletion and Are Associated with TKI Resistance in CML. In BLOOD Vol. 134 (pp. 4 pages). Orlando, FL: AMER SOC HEMATOLOGY.
DOI WoS12019 Singhal, D., Hahn, C. N., Moma, L. D., Wee, L. Y. A., Chhetri, R., Babic, M., . . . Hiwase, D. K. (2019). Deleterious Germline Variants, Especially in the DNA Repair Pathway, Are Common in Patients with Non-Related Multiple Cancers, One of Them Being Hematological Malignancy. In BLOOD Vol. 134 (pp. 3 pages). Orlando, FL: AMER SOC HEMATOLOGY.
DOI WoS12019 Venugopal, P., Cheah, J. J. C., Eshraghi, L., Shahrin, N. H., Homan, C., Feng, J., . . . Scott, H. S. (2019). An Integrative Genomic Approach to Examine Mutations and Biological Pathways Associated with Hematological Malignancy Development in DDX41 Mutated Families. In BLOOD Vol. 134 (pp. 3 pages). Orlando, FL: AMER SOC HEMATOLOGY.
DOI WoS22019 Brown, A. L., Babic, M., Schreiber, A., Feng, J., Dobbins, J., Arts, P., . . . Scott, H. S. (2019). Familial Clustering of Hematological Malignancies: Harbingers of Wider Germline Cancer Susceptibility. In BLOOD Vol. 134 (pp. 3 pages). Orlando, FL: AMER SOC HEMATOLOGY.
DOI WoS12019 Hahn, C. N., Babic, M., Brautigan, P. J., Venugopal, P., Phillips, K., Dobbins, J., . . . Scott, H. S. (2019). Australian Familial Haematological Cancer Study - Findings from 15 Years of Aggregated Clinical, Genomic and Transcriptomic Data. In BLOOD Vol. 134 (pp. 4 pages). Orlando, FL: AMER SOC HEMATOLOGY.
DOI WoS22019 Branford, S., Wadham, C., Shanmuganathan, N., Thomson, D., Shahrin, N. U. R. H., Feng, J., . . . Hughes, T. P. (2019). An RNA-Based Next Generation Sequencing (NGS) Strategy Detects More Cancer Gene Mutations Than a DNA-Based Approach for the Prediction and Assessment of Resistance in CML. In BLOOD Vol. 134 (pp. 4 pages). Orlando, FL: AMER SOC HEMATOLOGY.
DOI2019 Venugopal, P., Babic, M., Barnett, C., Bray, S., Brown, A., Cheah, J., . . . Young, C. C. (2019). IMPLICATIONS OF REVERTANT SOMATIC MOSAICISM IN BONE MARROW FAILURE SYNDROMES. In EXPERIMENTAL HEMATOLOGY Vol. 76 (pp. S90). ELSEVIER SCIENCE INC.
DOI2019 Cheah, J., Brown, A., Eshraghi, L., Feng, J., Schreiber, A., Babic, M., . . . Scott, H. (2019). AN INTEGRATIVE GENOMIC APPROACH TO EXAMINE MUTATIONS AND BIOLOGICAL PATHWAYS ASSOCIATED WITH HAEMATOLOGICAL MALIGNANCY DEVELOPMENT IN DDX41 MUTATED FAMILIES. In EXPERIMENTAL HEMATOLOGY Vol. 76 (pp. S61). ELSEVIER SCIENCE INC. 2017 Brown, A. L., Churpek, J., Hahn, C. N., & Scott, H. S. (2017). Clonal Evolution in the Setting of Germline Predisposition. In BLOOD Vol. 130 (pp. 1 page). GA, Atlanta: AMER SOC HEMATOLOGY.
WoS32017 Singhal, D., Wee, A., Parker, W., Moore, S., Babic, M., Feng, J., . . . Hiwase, D. K. (2017). Presence of Rare Germline Variants in Fanconi Anaemia Pathway Genes Confers a Poor Prognosis Comparable to <i>TP53</i> Mutations in Therapy-Related Myeloid Neoplasms. In BLOOD Vol. 130 (pp. 3 pages). Atlanta, GA: AMER SOC HEMATOLOGY.
WoS22017 Branford, S., Wang, P., Yeung, D., Purins, A., Marum, J. E., Nataren, N., . . . Hughes, T. P. (2017). Integrative Genomics Reveals Cancer Associated Mutations Are Common at Diagnosis of CML in Patients with Poor Response to TKI Therapy. In BLOOD Vol. 130 (pp. 4 pages). Atlanta, GA: AMER SOC HEMATOLOGY. 2017 Hahn, C. N., Wee, A., Babic, M., Feng, J., Wang, P., Kutyna, M. M., . . . Scott, H. S. (2017). Duplication on Chromosome 14q Identified in Familial Predisposition to Myeloid Malignancies and Myeloproliferative Neoplasms. In BLOOD Vol. 130 (pp. 2 pages). Atlanta, GA: AMER SOC HEMATOLOGY.
WoS22016 Marum, J. E., Wang, P. P. S., Stangl, D., Yeung, D. T., Mueller, M. C., Dietz, C. T., . . . Branford, S. (2016). Novel Fusion Genes at CML Diagnosis Reveal a Complex Pattern of Genomic Rearrangements and Sequence Inversions Associated with the Philadelphia Chromosome in Patients with Early Blast Crisis. In BLOOD Vol. 128 (pp. 6 pages). San Diego, CA: AMER SOC HEMATOLOGY.
DOI WoS22016 Singhal, D., Wee, L. A., Parker, W. T., Moore, S., Babic, M., Feng, J., . . . Hiwase, D. K. (2016). The Frequency of Genetic Mutations in T-MN Is High and Comparable to Primary MDS but the Spectrum Is Different. In BLOOD Vol. 128 (pp. 5 pages). San Diego, CA: AMER SOC HEMATOLOGY.
DOI2016 Bassal, M. A., Leo, P., Samaraweera, S. E., Maung, K. Z. Y., Babic, M., Venugopal, P., . . . D'Andrea, R. (2016). Metabolic Profiling of Adult Acute Myeloid Leukemia (AML). In BLOOD Vol. 128 (pp. 6 pages). San Diego, CA: AMER SOC HEMATOLOGY.
DOI WoS12016 Brown, A. L., Hahn, C. N., Carmichael, C., Wilkins, E., Babic, M., Chong, C. -E., . . . Scott, H. S. (2016). Expanded Phenotypic and Genetic Heterogeneity in the Clinical Spectrum of FPD-AML: Lymphoid Malignancies and Skin Disorders Are Common Features in Carriers of Germline <i>RUNX1</i> Mutations. In BLOOD Vol. 128 (pp. 6 pages). San Diego, CA: AMER SOC HEMATOLOGY.
DOI2015 Hiwase, D., Moore, S., Kutyna, M., Fraser, R., Singhal, D., Chhetri, R., . . . Scott, H. (2015). SNP-MICROARRAY OF PERIPHERAL BLOOD-GRANULOCYTES DNA CAN DETECT CLONAL EVOLUTION IN MYELODYSPLASTIC SYNDROMES (MDS). In LEUKEMIA RESEARCH Vol. 39 (pp. S79-S80). Washington, DC: PERGAMON-ELSEVIER SCIENCE LTD.
DOI2015 Hiwase, D., Moore, S., Hahn, C., Kutyna, M., Van der Hoek, M., Fraser, R., . . . Scott, H. (2015). TARGETED MUTATION SEQUENCING AND SNP-MICRORRAY CAN IDENTIFY POOR PROGNOSTIC GROUP IN IPSS-LOWER RISK GROUP. In LEUKEMIA RESEARCH Vol. 39 (pp. S78-S79). Washington, DC: PERGAMON-ELSEVIER SCIENCE LTD.
DOI2015 Hahn, C. N., Babic, M., Schreiber, A. W., Kutyna, M. M., Wee, L. A., Brown, A. L., . . . Hiwase, D. (2015). Rare and Common Germline Variants Contribute to Occurrence of Myelodysplastic Syndrome. In BLOOD Vol. 126 (pp. 4 pages). Orlando, FL: AMER SOC HEMATOLOGY.
DOI WoS32015 Branford, S., Wang, P. P. S., Parker, W. T., Yeung, D., Marum, J. E., Stangl, D., . . . Hughes, T. P. (2015). High Incidence of Mutated Cancer-Associated Genes at Diagnosis in CML Patients with Early Transformation to Blast Crisis. In BLOOD Vol. 126 (pp. 4 pages). Orlando, FL: AMER SOC HEMATOLOGY. 2015 Hiwase, D., Hahn, C., Babic, M., Moore, S., Singhal, D., Kutyna, M., . . . Scott, H. (2015). MULTIPLE MUTATIONS IN THE SAME GENE SUGGEST CLONAL DIVERSITY AND IS ASSOCIATED WITH POOR PROGNOSIS IN MDS. In LEUKEMIA RESEARCH Vol. 39 (pp. S77-S78). Washington, DC: PERGAMON-ELSEVIER SCIENCE LTD.
DOI2015 Yeung, D. T., Parker, W. T., Phillis, S., Georgievski, J., Scott, H. S., Hughes, T. P., & Branford, S. (2015). BCR-ABL Assay Sensitivity of MR4.5 Achieved in >90%, and MR5 in >75% of Samples, through mRNA Selection before qRT-PCR. In BLOOD Vol. 126 (pp. 3 pages). Orlando, FL: AMER SOC HEMATOLOGY. 2015 Scott, H. (2015). 'The Line of Descent of Nobles is from the Blood of Kings': Reflections on Dynastic Identity. In L. Geevers, & M. Marini (Eds.), DYNASTIC IDENTITY IN EARLY MODERN EUROPE: RULERS, ARISTOCRATS AND THE FORMATION OF IDENTITIES (pp. 217-241). NETHERLANDS, VU Univ Amsterdam, Amsterdam: ROUTLEDGE.
WoS42014 Ling, K., Lee, H., Brautigan, P., Moore, S., Fraser, R., Cheah, P., . . . Scott, H. (2014). Deciphering the secret role of Sox4 gene locus during mouse cerebral corticogenesis. In Journal of Neurochemistry Vol. 130 (pp. 8). Kaohsiung, Taiwan: Wiley. 2014 Casolari, D. A., Iarossi, D. G., Butcher, C. M., Bray, S. C., Parker, W. T., Hahn, C. N., . . . D'Andrea, R. J. (2014). Aberrant Activation of Epidermal Growth Factor Receptor in MPN May Respond to the Kinase Inhibitor Gefitinib. In BLOOD Vol. 124 (pp. 3 pages). San Francisco, CA: AMER SOC HEMATOLOGY. 2013 Tawana, K., Renneville, A., Wang, J., Georgiades, P., Thomas, X., Mialou, V., . . . Fitzgibbon, J. (2013). Familial AML With Germline <i>CEBPA</i> Mutations: Extended Clinical Outcomes and Analysis Of Secondary Mutations Using Whole Exome Sequencing. In BLOOD Vol. 122 (pp. 2 pages). LA, New Orleans: AMER SOC HEMATOLOGY.
DOI2011 Parker, W. T., Ho, M., Scott, H. S., Hughes, T. P., & Branford, S. (2011). Multiple Low Level Mutations Identifies Imatinib Resistant CML Patients At Risk of Poor Response to Second-Line Inhibitor Therapy, Irrespective of the Resistance Profile of the Mutations. In BLOOD Vol. 118 (pp. 54). San Diego, CA: AMER SOC HEMATOLOGY.
WoS12011 Rao, N., Butcher, C., Neufing, P., Bray, S., Hahn, C., Scott, H., . . . D'Andrea, R. (2011). Mechanisms of Co-operation of DNMT3A Mutations with JAK2 V617F Through Histone H4 Arginine 3 Provides New Insights in MPN Disease Pathogenesis. In 53rd ASH Annual Meeting and Exposition Vol. 118 (pp. 1). Washington DC: AMER SOC HEMATOLOGY. 2010 Parker, W., Ho, M., Lawrence, R., Irwin, D., Scott, H., Hughes, T., & Branford, S. (2010). Detection of low level nilotinib or dasatinib resistant BCR-ABL mutations by mass spectrometry in CML patients who fail Imatinib is highly predivtive of their subsequent clonal expansion when treated with the drug for which their mutation confers resistance. In Proceedings of 2010 american society of hematology meeting Vol. 116 (pp. 0 pages). Florida, USA: AMER SOC HEMATOLOGY. 2010 Ahlgren, K., Moretti, S., Lundgren, B., Karlsson, I., Ahlin, E., Norling, A., . . . Lobell, A. (2010). Increased IL-17 A secretion in response to candida albicans in APS1 and its animal model. In Proceedings of 40th annual scientific meeting of the Australasian Society for Immunology (pp. 0 pages). 2010 Laan, M., Kisand, K., Kont, V., Moll, K., Tserel, L., Scott, H. S., & Peterson, P. (2010). Aire Deficiency Results in Decreased Expression of CCR4 and CCR7 Ligands and in Delayed Migration of CD4 <SUP>+</SUP> Thymocytes. In SCANDINAVIAN JOURNAL OF IMMUNOLOGY Vol. 71 (pp. 475). Tallinn, ESTONIA: WILEY-BLACKWELL. 2010 Drini, M., Wong, N. C., Scott, H. S., Craig, J. M., Dobrovic, A., Hewitt, C. A., . . . Macrae, F. A. (2010). The Role of Genetic and Epigenetic Variation of DNA Methyltransferases in Hyperplastic Polyposis Syndrome. In GASTROENTEROLOGY Vol. 138 (pp. S563). W B SAUNDERS CO-ELSEVIER INC. 2010 Kont, V., Murumagi, A., Kinkel, S., Kisand, K., Tserel, L., Kyewski, B., . . . Peterson, P. (2010). CpG Methylation and Histone Modifications on AIRE Promoter. In SCANDINAVIAN JOURNAL OF IMMUNOLOGY Vol. 71 (pp. 485). Tallinn, ESTONIA: WILEY-BLACKWELL PUBLISHING, INC. 2009 Davenport, M. P., Valkenburg, S., Guillonneau, C., Hubert, F. -X., Cukalac, T., Curtis, J. M., . . . Kedzierska, K. (2009). The absence of Aire does not alter the CD8 T cell repertoire to infection. In JOURNAL OF IMMUNOLOGY Vol. 182 (pp. 1 page). AMER ASSOC IMMUNOLOGISTS. 2009 Irla, M., Hugues, S., Gill, J., Nitta, T., Hikosaka, Y., Williams, I. R., . . . Reith, W. (2009). Autoantigen-specific interactions with CD4+thymocytes control mature medullary thymic epithelial cell cellularity. In SWISS MEDICAL WEEKLY Vol. 139 (pp. 16S). E M H SWISS MEDICAL PUBLISHERS LTD. 2008 Marrella, V., Casati, A., Poliani, P. L., Cassani, B., Notarangelo, L. D., Facchetti, F., . . . Grassi, F. (2008). Impact of thymic epithelium on immunopathology in lymphopenic mice reconstituted with hypomorphic Rag2 haemopoietic progenitors. In CLINICAL AND EXPERIMENTAL IMMUNOLOGY Vol. 154 (pp. 6-7). Hertogenbosch, NETHERLANDS: WILEY-BLACKWELL PUBLISHING, INC.
WoS12008 Zamudio, N., Chong, S., Scott, H., Whitelaw, E., & O'Bryan, M. (2008). Dnmt3L haploinsufficiency results in meiotic instability and embryo loss. In JOURNAL OF ANDROLOGY (pp. 33). Albuquerque, NM: AMER SOC ANDROLOGY, INC. 2007 Patton, W. N., Suthers, G., Altree, M., Carnnichael, C., Wilkins, E., Carroll, J., . . . Scott, H. (2007). Novel heritable mutation of the transcription factor RUNX1 as a cause of autosomal dominant familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML). In BLOOD Vol. 110 (pp. 128B-129B). Atlanta, GA: AMER SOC HEMATOLOGY.
DOI2005 Brodnicki, T. C., Fletcher, A. L., Pellicci, D. G., Berzins, S. P., McClive, P., Quirk, F., . . . Morahan, G. (2005). A non-diabetes-prone mouse strain harbours resistance and susceptibility alleles for different type 1 diabetes loci. In TISSUE ANTIGENS Vol. 66 (pp. 366-367). Melbourne, AUSTRALIA: BLACKWELL PUBLISHING. 2002 Guipponi, M., Vuagniaux, G., Wattenhofer, M., Shibuya, K., Vasquez, M., Dougherty, L., . . . Rossier, B. C. (2002). Mutations of TMPRSS3, the transmembrane serine protease causing deafness DFNB8/10 fail to activate the amiloride-sensitive epithelial sodium channel (ENaC) in vitro. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 10 (pp. 291). STRASBOURG, FRANCE: NATURE PUBLISHING GROUP. 2001 Guipponi, M., Brunschwig, K., Chamoun, Z., Kudoh, J., Scott, H. S., Al Samadi, S., . . . Antonarakis, S. E. (2001). C21orf5, a novel human chromosome 21 gene has a <i>C-elegans</i> ortholog (<i>Pad1</i>) required for embryonic patterning. In CYTOGENETICS AND CELL GENETICS Vol. 92 (pp. 12). KARGER. 2001 Chrast, R., Scott, H. S., Madani, R., Huber, L., Wolfer, D. P., Prinz, M., . . . Antonarakis, S. E. (2001). Mice trisomic for a BAC with the single minded 2 gene (Sim2) show some of the phenotypes of the partial trisomy 16 mouse models of Down syndrome. In CYTOGENETICS AND CELL GENETICS Vol. 92 (pp. 7). KARGER. 2001 Shimizu, N., Shibuya, K., Kawasaki, K., Shintani, A., Sasaki, T., Scott, H. S., . . . Kudoh, J. (2001). Genomic sequencing and systematic gene identification on human chromosome 21. In CYTOGENETICS AND CELL GENETICS Vol. 92 (pp. 20). KARGER. 2001 Deustch, S., Iseli, C., Bucher, P., Antonarakis, S. E., & Scott, H. S. (2001). A chromosome 21 cSNP map and database. In CYTOGENETICS AND CELL GENETICS Vol. 92 (pp. 9). KARGER. 2001 Michaud, J., Wattenhofer, M., Menzel, O., Bartoloni, L., Guipponi, M., Rossier, C., . . . Antonarakis, S. E. (2001). Contribution to the development of the HC21 transcription map: Characterization of five novel genes. In CYTOGENETICS AND CELL GENETICS Vol. 92 (pp. 15-16). KARGER. 2001 Scott, H. S., Wattenhofer, M., Shibuya, K., Berry, A., Kudoh, J., Chrast, R., . . . Antonarakis, S. E. (2001). A novel mechanism, insertion of α-satellite repeats, identifies the (transmembrane protease) TMPRSS3 gene as responsible for both congenital (DFNB10) and childhood onset (DFNB8) autosomal recessive deafness. In CYTOGENETICS AND CELL GENETICS Vol. 92 (pp. 20). KARGER. 2001 Chrast, R., Scott, H. S., Papasavvas, M. P., Rossier, C., Antonarakis, E. S., Barras, C., . . . Antonarakis, S. E. (2001). The mouse brain transcriptome by Serial Analysis of Gene Expression (SAGE): Differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals and between males and females. In CYTOGENETICS AND CELL GENETICS Vol. 92 (pp. 6-7). KARGER. 2001 Escher, R., Hagos, F., Sveen, E., Dougherty, L., Michaud, J., Horwitz, M., . . . Scott, H. S. (2001). Autosomal dominant familial acute myelogenous leukemia susceptibility:: Exclusion of CBFβ on chromosome 16q22.. In BLOOD Vol. 98 (pp. 166B). AMER SOC HEMATOLOGY. 2001 Guipponi, M., Shibuya, K., Vasquez, M., Dougherty, L., Scamuffa, N., Guida, E., . . . Antonarakis, S. E. (2001). Isolation, expression, and subcellular localization of the mouse Tmprss3.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 69 (pp. 368). UNIV CHICAGO PRESS. 2001 Antonarakis, S. E., Lyle, R., Chrast, R., & Scott, H. S. (2001). Differential gene expression studies to explore the molecular pathophysiology of Down syndrome. In Brain Research Reviews Vol. 36 (pp. 265-274). WARTH, SWITZERLAND: ELSEVIER SCIENCE BV.
DOI Scopus37 WoS31 Europe PMC272001 Michaud, J., Benson, K. F., Raskind, W. H., Rossier, C., Antonarakis, S. E., Horwitz, M., & Scott, H. S. (2001). Mutations in the RUNX1/CBFA2/AML1 gene in dominant familiar platelet disorder with predisposition to acute myelogenous leukaemia (FPD-AML). In CYTOGENETICS AND CELL GENETICS Vol. 92 (pp. 16). KARGER. 2001 Wattenhofer, M., Alwan, S., Rossier, C., Rabionet, R., Montserrat-Sentis, B., Arbones, M. L., . . . Antonarakis, S. E. (2001). Mutations in the TMPRSS3 gene are a rare cause of childhood non-syndromic deafness in Caucasian patients.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 69 (pp. 589). UNIV CHICAGO PRESS. 2001 Menzel, O., Aftimos, S., Kosztolanyi, G., Gehrig, C., Rossier, C., Antonarakis, S. E., . . . Guipponi, M. (2001). Locus heterogeneity in Knobloch syndrome. In CYTOGENETICS AND CELL GENETICS Vol. 92 (pp. 15). KARGER. 2001 Lyle, R., Chrast, R., Gehrig, C., Chanson, P., Hendrich, C., Scott, H., & Antonarakis, S. (2001). Molecular dissection of the contribution of single genes to changes in global gene expression in Down syndrome.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 69 (pp. 449). UNIV CHICAGO PRESS. 2000 Wattenhofer, M., Kudoh, J., Shibuya, K., Minoshima, S., Shimizu, N., Berry, A., . . . Scott, H. S. (2000). Isolation and characterization of a novel gene encoding a with UBA and SH3 domains on human chromosome 21q22.3: its exclusion for the autosomal recessive deafness locus, DFNB10.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 67 (pp. 185). UNIV CHICAGO PRESS. 2000 Chrast, R., Scott, H. S., Madani, R., Huber, L., Wolfer, D. P., Prinz, M., . . . Antonarakis, S. E. (2000). Mice trisomic for a BAC with the single minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 67 (pp. 178). UNIV CHICAGO PRESS. 2000 Menzel, O., Aftimos, S., Gehrig, C., Antonarakis, S. E., Scott, H. S., & Guipponi, M. (2000). Locus heterogeneity in Knobloch syndrome.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 67 (pp. 311). UNIV CHICAGO PRESS. 2000 Michaud, J., Benson, K. F., Raskind, W. H., Rossier, C., Antonarakis, S. E., Horwitz, M., & Scott, H. S. (2000). Mutations in the RUNX1/CBFA2/AML1 gene in dominant familial platelet disorder with predisposition to acute myelogenous leukaemia (FPD-AML).. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 67 (pp. 84). UNIV CHICAGO PRESS. 2000 Deustch, S., Iseli, C., Bucher, P., Antonarakis, S. E., & Scott, H. S. (2000). A chromosome 21 cSNP map and database.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 67 (pp. 272). UNIV CHICAGO PRESS. 2000 Kudoh, J., Shibuya, K., Scott, H. S., Nagamine, K., Kawasaki, K., Shintani, A., . . . Shimizu, N. (2000). Systematic gene identification based on the genomic sequence of human chromosome 21.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 67 (pp. 265). UNIV CHICAGO PRESS. 2000 Scott, H. S., Wattenhofer, M., Shibuya, K., Berry, A., Kudoh, J., Guipponi, M., . . . Antonarakis, S. E. (2000). A novel mutation mechanism, insertion of β-satellite repeats, in a transmembrane protease gene causes the autosomal recessive deafness DFNB10.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 67 (pp. 13). UNIV CHICAGO PRESS.
WoS11999 Scott, H. S., Berry, A., Korostishevsky, M., Talior, I., Barras, C., Gehrig, C., . . . Antonarakis, S. E. (1999). The autosomal recessive non-syndromic deafness loci, DFNB8 and DFNB10 on human chromosome 21q22.3, are distinct loci. In CYTOGENETICS AND CELL GENETICS Vol. 86 (pp. 19). KARGER. 1999 Scott, H. S., Berry, A., Korostishevsky, M., Talior, I., Barras, C., Gehrig, C., . . . Antonarakis, S. E. (1999). The autosomal recessive non-syndromic deafness loci, DFNB8 and DFNB10 on human chromosome 21q22.3, are distinct loci.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 65 (pp. A445). UNIV CHICAGO PRESS. 1999 Lalioti, M. D., Scott, H. S., & Antonarakis, S. E. (1999). The dodecamer repeat expansion in EPM1 reduces transcription of the cystatin B gene by altering spacing between promoter elements. In CYTOGENETICS AND CELL GENETICS Vol. 86 (pp. 9). KARGER. 1999 Chrast, R., Scott, H. S., & Antonarakis, S. E. (1999). Development of transgenic mice overexpressing mSIM2 gene in the correct spatial manner. In CYTOGENETICS AND CELL GENETICS Vol. 86 (pp. 12). KARGER. 1999 Scott, H. S., Papasavvas, M. P., Rossier, C., Michaud, J., Chrast, R., Velculescu, V. E., . . . Antonarakis, S. E. (1999). A global comparison of gene expression patterns between Down syndrome and normal cells by Serial Analysis of Gene Expression (SAGE). In CYTOGENETICS AND CELL GENETICS Vol. 86 (pp. 10). KARGER. 1999 Bartoloni, L., Maiti, A., Blouin, J. L., Rossier, C., Meeks, M., Gehrig, C., . . . Antonarakis, S. E. (1999). Heavy chain dynein DNAH9: cDNA sequence, genomic structure and exclusion as the gene responsible for one form of Primary Ciliary Dyskinesia.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 65 (pp. A182). CELL PRESS. 1999 Imhof, A., Antonarakis, S. E., & Scott, H. S. (1999). A database of human chromosome 21 SNPs: A tool for association studies to dissect the contribution of minor loci to complex diseases.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 65 (pp. A256). UNIV CHICAGO PRESS. 1999 Guipponi, M., Brunschwig, K., Chamoun, Z., Kudoh, J., Scott, H. S., Al Samadi, S., . . . Antonarakis, S. E. (1999). Identification and expression analysis of C21orf5, the ortholog of which leads to embryonic lethality in C-elegans using double-stranded RNA-mediated interference.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 65 (pp. A187). UNIV CHICAGO PRESS. 1999 Chrast, R., Scott, H. S., Papasavvas, M. P., Rossier, C., Barras, C., Davisson, M. T., . . . Antonarakis, S. E. (1999). The mouse brain transcriptome by Serial Analysis Of Gene Expression (SAGE): Differences in gene expression between P30 brains of the Ts65Dn mouse model of down syndrome and normals and between males and females.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 65 (pp. A28). UNIV CHICAGO PRESS. 1999 Michaud, J., Lalioti, M. D., Kudoh, J., Minoshima, S., Shimizu, N., Rossier, C., . . . Scott, H. S. (1999). Isolation and characterization of a new WD-repeat protein, GNB5, on human chromosome 21q22.3.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 65 (pp. A376). UNIV CHICAGO PRESS. 1999 Guipponi, M., Mittaz, L., Guidi, S., Chen, H., Barras, C., Sail-Duriaux, G., . . . Antonarakis, S. E. (1999). Isolation and characterization of three human chromosome 21 (HC21) genes. In CYTOGENETICS AND CELL GENETICS Vol. 86 (pp. 16-17). KARGER. 1999 Scott, H. S., & Antonarakis, S. E. (1999). The "genomics" of chromosome 21 and Down syndrome. In G. Schumacher, & U. Sauer (Eds.), GENETICS OF CARDIOPATHIES (pp. 164-179). MUNICH, GERMANY: WISSENSCHAFTLICHE verlagsgesellschaft mbh. 1999 Mehenni, H., Gerhig, C., Nezu, J. I., Oku, A., Shimane, M., Rossier, C., . . . Antonarakis, S. E. (1999). Loss of LKB1 kinase activity in Peutz-Jeghers syndrome and evidence for allelic and locus heterogeneity.. In GASTROENTEROLOGY Vol. 116 (pp. A461). W B SAUNDERS CO-ELSEVIER INC. 1999 Michaud, J., Bartoloni, L., Guipponi, M., Wattenhofer, M., Chen, H., Lalioti, M. D., . . . Scott, H. S. (1999). Characterization of human chromosome 21q22.3 genes starting from trapped exons. In CYTOGENETICS AND CELL GENETICS Vol. 86 (pp. 18). KARGER. 1998 Guipponi, M., Scott, H. S., Chen, H. M., Schebesta, A., Rossier, C., & Antonarakis, S. E. (1998). Cloning of two human chromosome 21 genes encoding a potential phosphodiesterase and an intersectin homologue with alternative splicing in a stop codon. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 6 (pp. 152). STOCKTON PRESS. 1998 Mittaz, L., Roessler, E., Scott, H. S., Rossier, C., Guipponi, M., Antonarakis, S. E., & Muenke, M. (1998). Structure of the human lanosterol synthase gene and its analysis as a candidate for holoprosencephaly. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 6 (pp. 162). STOCKTON PRESS. 1998 Antonarakis, S. E., Nagamine, K., Peterson, P., Rosatelli, M. C., Lalioti, M. D., Mullis, P. E., . . . Scott, H. S. (1998). Identification of a potential transcription regulator mutated in autoimmune polyglandular disease 1. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 6 (pp. 34). STOCKTON PRESS. 1998 Scott, H. S., Papasavvas, M. P., Rossier, C., Michaud, J., Chrast, R., Velculescu, V. E., . . . Antonarakis, S. E. (1998). A global comparison of gene expression patterns between Down syndrome and normal cells by serial analysis of gene expression (SAGE). In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 6 (pp. 35). STOCKTON PRESS. 1998 Chrast, R., Scott, H. S., & Antonarakis, S. E. (1998). Optimised protocol for linearization and purification of BAC clones for Tg mice generation. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 6 (pp. 156). STOCKTON PRESS. 1998 Lalioti, M. D., Scott, H. S., Genton, P., Grid, D., Ouazzani, R., M'Rabet, A., . . . Antonarakis, S. E. (1998). The expanded dodecamer repeat in Progressive myoclonus epilepsy (EPM1) is unstable, shows no correlation with age of onset, and results in reduced expression of reporter genes in vitro. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 6 (pp. 146). STOCKTON PRESS.
WoS21997 Nagamine, K., Kudoh, J., Kawasaki, K., Asakawa, S., Abe, I., Minoshima, S., . . . Shimizu, N. (1997). Exon trapping, cDNA cloning, and genomic sequencing of the APECED region of chromosome 21q22.3.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 61 (pp. A287). CELL PRESS. 1997 Guidi, S., Blouin, J. L., Sail, G. D., Rossier, C., Antonarakis, S. E., & Scott, H. S. (1997). Isolation and characterization of a novel human chromosome 21q22 gene (C21ORF1), and its mouse and chicken homologues.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 61 (pp. A173). CELL PRESS. 1997 Lalioti, M. D., Scott, H. S., Buresi, C., Rossier, C., Bottani, A., Morris, M. A., . . . Antonarakis, S. E. (1997). Dodecamer repeat expansion in the cystatin B gene in progressive myoclonus epilepsy (EPM1).. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 61 (pp. A51). CELL PRESS. 1997 Chrast, R., Scott, H. S., & Antonarakis, S. E. (1997). Linearization and purification of BAC clones for Tg mice generation.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 61 (pp. A168). CELL PRESS. 1997 Scott, H. S., Papasavvas, M. P., Velculescu, V. E., Toth, Z., Dahoun, S., Rossier, C., & Antonarakis, S. E. (1997). A global comparison of gene expression patterns between Down syndrome and normal cells by serial analysis of gene expression.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 61 (pp. A40). CELL PRESS. 1997 Blouin, J. L., Chen, H. M., Saïl, G. D., Rossier, C., Scott, H. S., Antonarakis, S. E., . . . McCormick, M. K. (1997). Construction of a dense exon map (1 in every 14 kb) of the CBR to ERG ∼2.5-Mb region of chromosome 21. In CYTOGENETICS AND CELL GENETICS Vol. 79 (pp. 40). KARGER. 1997 Mittaz, L., Scott, H. S., Nizetic, D., & Antonarakis, S. E. (1997). Editing of glutamate receptor pre-mRNAs in trisomy 21 fetal brain; evidence for in vivo substrates of hRED1 and implications for the Down syndrome phenotypes.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 61 (pp. A315). CELL PRESS. 1997 Antonarakis, S. E., Chen, H. M., Lalioti, M. D., Scott, H. S., Chrast, R., Blouin, J. L., . . . Rossier, C. (1997). Progress toward the transcription map of human chromosome 21 and initial characterization of several of its genes. In CYTOGENETICS AND CELL GENETICS Vol. 77 (pp. 12). KARGER. 1993 WHITLEY, C. B., KRIVIT, W., RAMSAY, N. K. C., KERSEY, J. H., CHANG, P. N., LATCHAW, R. E., . . . HOPWOOD, J. J. (1993). MUTATION ANALYSIS AND CLINICAL OUTCOME OF PATIENTS WITH HURLER-SYNDROME (MUCOPOLYSACCHARIDOSIS TYPE I-H) UNDERGOING BONE-MARROW TRANSPLANTATION. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 53 (pp. 101). UNIV CHICAGO PRESS.
WoS51990 BRANDTZAEG, P., BJERKE, K., HALSTENSEN, T. S., HVATUM, M., KETT, K., KRAICI, P., . . . VALNES, K. (1990). LOCAL IMMUNITY - THE HUMAN MUCOSA IN HEALTH AND DISEASE. In T. T. MACDONALD, R. V. HEATLEY, S. J. CHALLACOMBE, A. M. MOWAT, P. W. BLAND, & C. R. STOKES (Eds.), ADVANCES IN MUCOSAL IMMUNOLOGY (pp. 1-12). LONDON, ENGLAND: KLUWER ACADEMIC PUBL.
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Conference Items
Year Citation 2024 Schubert, C., Jackson, M., Barnett, C., Scott, H., Goodall, S., & Merlin, T. (2024). Exome or genome sequencing for perinatal autopsy: A 'before and after' change-in-management study. Poster session presented at the meeting of Human Genetics Society of Australasia (HGSA) Annual Meeting. Gold Coast, Queensland, Australia. 2022 Wu, D., Drogemuller, C., Couper, R., Torpy, D., Scott, H., Palmer, L., . . . Coates, P. T. (2022). The Genetic Epidemiology of Hereditary Pancreatitis in Australia and Its Effect on Patients of Total Pancreatectomy and Islet Auto Translation (TP-IAT). Poster session presented at the meeting of TRANSPLANTATION. ELECTR NETWORK: LIPPINCOTT WILLIAMS & WILKINS. 2022 Batkovskyte, D., McKenzie, F., Taylan, F., Simsek-Kiper, P. O., Nikkel, S. M., Ohashi, H., . . . Grigelioniene, G. (2022). Al-Gazali skeletal dysplasia constitutes the lethal end of <i>ADAMTSL2</i>-related disorders. Poster session presented at the meeting of EUROPEAN JOURNAL OF HUMAN GENETICS. SPRINGERNATURE. 2018 Singhal, D., Wee, A., Kutyna, M. M., Babic, M., Chhetri, R., Parker, W., . . . Hiwase, D. K. (2018). Therapy-Related Myeloid Neoplasms (T-MN) and Primary MDS (PMDS) Patients with Very Low (VL) or Low (L) IPSS-R Score Share Clinical and Biological Characteristics and Have Similar Outcome. Poster session presented at the meeting of BLOOD. CA, San Diego: AMER SOC HEMATOLOGY.
DOI2017 De Sousa, S. M. C., Stowasser, M., Feng, J., Schreiber, A. W., Hahn, C. N., Torpy, D. J., . . . Scott, H. S. (2017). Sequence variants in <i>ARMC5</i> are not implicated in familial hyperaldosteronism type II. Poster session presented at the meeting of CLINICAL ENDOCRINOLOGY. WILEY-BLACKWELL. 2017 Oftedal, B. E., Lundgren, B. A., Bratland, E., Wolff, A. B., Hamm, D., Gan, P. -Y., . . . Scott, H. S. (2017). T cell receptor assessment in autoimmune disease requires access to the most adjacent immunologically active organ. Poster session presented at the meeting of SCANDINAVIAN JOURNAL OF IMMUNOLOGY. Stockholm, SWEDEN: WILEY. 2017 Singhal, D., Wee, L. A., Babic, M., Parker, W., Moore, S., Feng, J., . . . Hiwase, D. (2017). THERAPY RELATED MYELOID NEOPLASMS (T-MN) SHOW HIGH MUTATION FREQUENCY AND A SPECTRUM DIFFERENT FROM PRIMARY MDS. Poster session presented at the meeting of LEUKEMIA RESEARCH. Valencia, SPAIN: PERGAMON-ELSEVIER SCIENCE LTD.
DOI2014 Tan, K. -L., Lee, H. C., Ling, K. -H., Hewitt, C. A., Scott, H. S., Lai, M. I., . . . Cheah, P. S. (2014). Overexpressed interferon alpha or beta receptors in the brain of adult Ts1Cje mouse model of Down syndrome. Poster session presented at the meeting of JOURNAL OF NEUROCHEMISTRY. Kaohsiung, TAIWAN: WILEY-BLACKWELL. 2014 Parker, W. T., Phillis, S. R., Yeung, D. T., Lawrence, D., Schreiber, A., Wang, P., . . . Branford, S. (2014). Detection of BCR-ABL1 Compound and Polyclonal Mutants in Chronic Myeloid Leukemia Patients Using a Novel Next Generation Sequencing Approach That Minimises PCR and Sequencing Errors. Poster session presented at the meeting of BLOOD. San Francisco, CA: AMER SOC HEMATOLOGY.
DOI WoS42013 Parker, W., Phillis, S., Yeung, D., Hughes, T., Scott, H., & Branford, S. (2013). PCR-mediated recombination can lead to artificial chimera formation, which may pose as BCR-ABL1 compound mutations. Poster session presented at the meeting of Oral Sessions from the 55th ASH Annual Meeting and Exhibition, as published in Blood. New Orleans, Louisiana: American Society of Hematology. 2012 Laan, M., Wang, X., Bichele, R., Kisand, K., Scott, H. S., & Peterson, P. (2012). Characterization of the development and function of thymic Hassall's corpuscles. Poster session presented at the meeting of IMMUNOLOGY. Glasgow, SCOTLAND: WILEY-BLACKWELL. 2012 Parker, W. T., Yeoman, A. L., Jamison, B. A., Yeung, D. T., Scott, H. S., Hughes, T. P., & Branford, S. (2012). The patient's BCR-ABL1 Kinase Domain Mutation History Is Important for Decisions Regarding Tyrosine Kinase Inhibitor Therapy. Poster session presented at the meeting of BLOOD. Atlanta, GA: AMER SOC HEMATOLOGY.
DOI2012 Gan, P. Y., Tan, D. S., Hammett, M. V., Chidgey, A. P., Boyd, R. L., Scott, H. S., . . . Holdsworth, S. R. (2012). AIRE IN THE MAINTENANCE OF CENTRAL TOLERANCE TO MPO AND THE DEVELOPMENT OF AUTOIMMUNE ANTI- MPO GLOMERULONEPHRITIS. Poster session presented at the meeting of NEPHROLOGY. WILEY-BLACKWELL. 2011 Davies, M. J., Moore, V. M., Willson, K., Van Essen, P., Scott, H., Priest, K., . . . Chan, A. (2011). The evanishing twini phenomenon explains the excess risk of congenital malformation in multiple pregnancy after infertility treatment. Poster session presented at the meeting of HUMAN REPRODUCTION. Stockholm, SWEDEN: OXFORD UNIV PRESS. -
Preprint
Year Citation 2024 Weisburd, B., Sharma, R., Pata, V., Reimand, T., Ganesh, V. S., Austin-Tse, C., . . . O'Donnell-Luria, A. (2024). Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets..
DOI2024 Arthurs, A., Jackson, M., McCullough, D., Scott, H., Barnett, C., Webb, S., . . . Roberts, C. (2024). Circular RNAs accumulate in ageing human placental tissue and in stillbirth, leading to DNA damage and cellular senescence.
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Current Higher Degree by Research Supervision (University of Adelaide)
Date Role Research Topic Program Degree Type Student Load Student Name 2023 Principal Supervisor Multiplex assay of variant effect (MAVE) to measure functional effects following saturation mutagenesis of GATA2 and RUNX1. Doctor of Philosophy Doctorate Full Time Mr Wen Teng 2022 Principal Supervisor Investigation of germline ERG mutations associated with predisposition to haematological malignancies. Doctor of Philosophy Doctorate Full Time Miss Jiarna Zerella -
Past Higher Degree by Research Supervision (University of Adelaide)
Date Role Research Topic Program Degree Type Student Load Student Name 2020 - 2023 Principal Supervisor Defining The Role of a Novel Gene “MyoD Family Inhibitor Domain Containing (MDFIC)” Important in Cardiovascular Development Doctor of Philosophy Doctorate Full Time Ms Saba Montazaribarforoushi 2016 - 2020 Co-Supervisor Clinical and Genetic Aspects of Prolactin Hypersecretion Doctor of Philosophy Doctorate Full Time APrf Sunita Maria Christina De Sousa 2012 - 2016 Principal Supervisor Identification and Characterisation of Genetic Lesions that Predispose to and Gene Expression Patterns that Contribute to Myeloid Malignancies Doctor of Philosophy Doctorate Full Time Ms Parvathy Venugopal 2012 - 2016 Co-Supervisor Prognostic Markers Associated With Tyrosine Kinase Inhibitor Treatment Response and Maintenance of Treatment Free Remission in Chronic Myeloid Leukaemia Doctor of Philosophy Doctorate Full Time Prof David Yeung 2010 - 2014 External Supervisor Identification and Annotation of Recombinant Repeats In Mammals Indicates They Are Experimental Products For Creating Novel Transposable Element Families Doctor of Philosophy Doctorate Full Time Mr Sim Lin Lim 2009 - 2011 Co-Supervisor Regulation of Cortisol Secretion in Humans; Relation to Vasopressin Action at the Adrenals in Macronodular and Micronodular Adrenocortical Tumours and Well-Being in Addison's Disease Doctor of Philosophy Doctorate Full Time Dr Lucia Gagliardi 2009 - 2013 Principal Supervisor Genetics and Functional Characterization of GATA2, a Novel Cancer Gene in Familial Leukaemia Doctor of Philosophy Doctorate Full Time Mr Chan Eng Chong 2008 - 2011 Principal Supervisor Identification and Characterisation of Novel Transcripts Involved in the Proliferation, Differentiation and Development Networks of the Mouse Cerebral Cortex Doctor of Philosophy Doctorate Full Time Mr King Hwa Ling
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