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 2024 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.
Scopus3 Europe PMC12024 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.. medRxiv.
2024 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.
Scopus2 Europe PMC12024 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.
Scopus12024 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, 8 pages.
Scopus1 Europe PMC12024 Venugopal, P., Arts, P., Fox, L. C., Simons, A., Hiwase, D. K., Bardy, P. G., . . . Scott, H. S. (2024). Unraveling 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.
Europe PMC12024 Zerella, J. R., Homan, C. C., Arts, P., Lin, X., Spinelli, S. J., Venugopal, P., . . . Hahn, C. N. (2024). Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition. Blood, 144(17), 1765-1780.
Scopus12024 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.
2024 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.
Scopus12024 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.
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.
2024 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, 8 pages.
2024 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 : official journal of the American College of Medical Genetics, 101293.
2023 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 PMC12023 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.
Scopus18 WoS2 Europe PMC152023 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.
2023 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.
Scopus8 WoS1 Europe PMC62023 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.
Scopus31 WoS1 Europe PMC192023 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.
Scopus2 Europe PMC22023 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.
Scopus15 Europe PMC112023 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.
Scopus13 WoS7 Europe PMC112023 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.
Scopus22 WoS4 Europe PMC132023 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.
Scopus20 WoS5 Europe PMC122023 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.
Scopus15 WoS6 Europe PMC102023 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.
Scopus14 WoS2 Europe PMC142023 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.
Scopus12023 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.
Scopus27 WoS10 Europe PMC182023 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.
2023 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.
Scopus17 WoS4 Europe PMC122023 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.
Scopus11 WoS4 Europe PMC82023 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.
Scopus3 WoS2 Europe PMC32023 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.
Scopus2 WoS1 Europe PMC12023 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.
Scopus5 WoS1 Europe PMC42022 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.
Scopus16 WoS4 Europe PMC92022 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.. The Medical journal of Australia, 216(11), 578-582.
Scopus3 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.
Scopus13 WoS4 Europe PMC62022 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.
Scopus3 WoS1 Europe PMC32022 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.
Scopus10 WoS2 Europe PMC42022 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.
Scopus3 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.
Scopus51 WoS28 Europe PMC442022 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.
Scopus23 WoS7 Europe PMC152022 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 PMC52022 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.
Scopus10 WoS4 Europe PMC62022 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.
Scopus13 WoS2 Europe PMC122022 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.
Scopus31 WoS20 Europe PMC152021 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.
Scopus34 WoS13 Europe PMC232021 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.
Scopus8 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.
Scopus5 WoS3 Europe PMC52021 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.
Scopus41 WoS26 Europe PMC322021 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.
Scopus9 WoS5 Europe PMC82020 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.
Scopus9 WoS6 Europe PMC62020 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.
Scopus10 WoS10 Europe PMC82020 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.
Scopus5 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.
Scopus29 WoS22 Europe PMC182020 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 PMC72020 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.
Scopus102 WoS65 Europe PMC632020 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.
Scopus71 WoS49 Europe PMC532020 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.
Scopus20 WoS11 Europe PMC122019 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.
Scopus11 WoS6 Europe PMC62019 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.
Scopus14 WoS12 Europe PMC112019 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.
Scopus105 WoS68 Europe PMC782019 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.
Scopus44 WoS38 Europe PMC292019 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.
Scopus13 WoS8 Europe PMC112019 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.
Scopus8 WoS7 Europe PMC62019 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.
Scopus3 WoS1 Europe PMC22018 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.
Scopus15 Europe PMC72018 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.
Scopus50 WoS40 Europe PMC392018 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.
Scopus147 WoS121 Europe PMC1022018 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.
Scopus36 WoS30 Europe PMC222018 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.
Scopus50 WoS40 Europe PMC342018 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 PMC32017 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 PMC552017 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.
Scopus81 WoS61 Europe PMC532017 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.
Scopus86 WoS69 Europe PMC592017 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.
Scopus78 WoS54 Europe PMC362017 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.
Scopus128 WoS101 Europe PMC752017 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.
Scopus18 WoS11 Europe PMC132017 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.
Scopus24 WoS19 Europe PMC152017 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.
Scopus4 WoS1 Europe PMC32017 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.
Scopus30 WoS21 Europe PMC192017 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 PMC62016 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.
Scopus28 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.
Scopus570 WoS502 Europe PMC3802016 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 PMC22016 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 PMC62016 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.
Scopus7 WoS7 Europe PMC52016 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.
Scopus172 WoS141 Europe PMC1222016 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 PMC102016 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.
Scopus59 WoS46 Europe PMC552015 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.
Scopus94 WoS76 Europe PMC732015 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 PMC52015 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.
Scopus38 WoS26 Europe PMC212015 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 PMC172015 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.
Scopus176 WoS138 Europe PMC1162015 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 PMC82015 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.
Scopus27 WoS23 Europe PMC222015 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.
Scopus40 WoS33 Europe PMC352015 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.
Scopus59 WoS54 Europe PMC402014 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.
Scopus63 WoS49 Europe PMC412014 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 PMC152014 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.
Scopus24 WoS21 Europe PMC182014 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.
Scopus99 WoS69 Europe PMC592014 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.
Scopus36 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.
Scopus252 WoS189 Europe PMC1752013 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.
Scopus19 WoS16 Europe PMC122013 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.
Scopus78 WoS67 Europe PMC642013 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.
Scopus28 WoS19 Europe PMC192013 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 PMC262012 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.
Scopus91 WoS73 Europe PMC672012 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.
Scopus54 WoS47 Europe PMC412012 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 PMC442012 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.
Scopus236 WoS199 Europe PMC1692012 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 PMC122012 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.
Scopus11 WoS12 Europe PMC92012 Hahn, C., & Scott, H. (2012). Spliceosome mutations in hematopoietic malignancies. Nature Genetics, 44(1), 9-10.
Scopus54 WoS43 Europe PMC432011 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.
Scopus77 WoS69 Europe PMC612011 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.
Scopus502 WoS424 Europe PMC3642011 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.
Scopus163 WoS142 Europe PMC1302011 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.
Scopus69 WoS56 Europe PMC552011 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 PMC372011 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 PMC112011 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 PMC282011 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.
Scopus40 WoS37 Europe PMC302011 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.
Scopus36 WoS32 Europe PMC292011 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.
Scopus85 WoS75 Europe PMC742010 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 PMC112010 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.
Scopus81 WoS72 Europe PMC522010 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.
Scopus42 WoS35 Europe PMC282010 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.
Scopus45 WoS37 Europe PMC262010 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 PMC392010 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.
Scopus54 WoS46 Europe PMC412010 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 PMC162010 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.
Scopus9 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.
Scopus78 WoS73 Europe PMC642009 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.
Scopus114 WoS104 Europe PMC862009 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 PMC412009 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 PMC232009 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.
Scopus68 WoS63 Europe PMC532009 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.
Scopus24 WoS21 Europe PMC172009 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.
Scopus38 WoS31 Europe PMC302009 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.
Scopus40 WoS35 Europe PMC262009 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 PMC182008 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.
Scopus239 WoS179 Europe PMC1232008 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.
Scopus66 WoS53 Europe PMC482008 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.
Scopus75 WoS68 Europe PMC592008 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.
Scopus74 WoS65 Europe PMC572008 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 PMC752008 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 PMC762008 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 PMC82008 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.
Scopus216 WoS196 Europe PMC1782008 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.
Scopus90 WoS74 Europe PMC622008 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.
Scopus109 WoS94 Europe PMC832008 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.
Scopus76 WoS61 Europe PMC602008 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 PMC452008 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.
Scopus41 WoS30 Europe PMC242008 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.
Scopus82 WoS76 Europe PMC682007 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.
Scopus77 WoS61 Europe PMC522007 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.
Scopus178 WoS164 Europe PMC1532007 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.
Scopus80 WoS68 Europe PMC552007 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.
Scopus61 WoS54 Europe PMC422007 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 PMC1142007 Rossi, S. W., Kim, M. Y., Leibbrandt, A., Parnell, S. M., Jenkinson, W. E., Glanville, S. H., . . . Anderson, G. (2007). RANK signals from CD4<sup>+</sup>3<sup>-</sup> inducer cells regulate development of Aire-expressing epithelial cells in the thymic medulla. Journal of Experimental Medicine, 204(6), 1267-1272.
Scopus401 WoS379 Europe PMC3352007 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 PMC482006 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 PMC292006 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.
Scopus44 WoS42 Europe PMC342005 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.
Scopus242 WoS223 Europe PMC1762005 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 PMC112005 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.
Scopus1108 WoS1082 Europe PMC9852005 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 PMC122004 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.
Scopus5 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.
Scopus91 WoS75 Europe PMC532004 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 WoS42004 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.
Scopus257 WoS232 Europe PMC2042004 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), 31-39.
Scopus86 WoS84 Europe PMC672004 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 PMC262003 Michaud, J., Scott, H. S., & Escher, R. (2003). AML1 interconnected pathways of leukemogenesis. Cancer Investigation, 21(1), 105-136.
Scopus38 WoS33 Europe PMC282003 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 PMC202003 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.
Scopus95 WoS79 Europe PMC682003 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.
Scopus338 WoS287 Europe PMC2122002 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.
Scopus150 WoS126 Europe PMC1092002 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.
Scopus63 WoS56 Europe PMC422001 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.
Scopus125 WoS106 Europe PMC692001 Scott, H. S., & Chrast, R. (2001). Global transcript expression profiling by Serial Analysis of Gene Expression (SAGE).. Genetic engineering, 23, 201-219.
Scopus13 Europe PMC52001 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 PMC382001 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.
Scopus42 WoS39 Europe PMC252001 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.
Scopus46 WoS38 Europe PMC292001 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.
Scopus201 WoS175 Europe PMC1382001 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.
Scopus51 WoS48 Europe PMC372001 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 PMC442000 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.
Scopus208 WoS175 Europe PMC1302000 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.
Scopus237 WoS207 Europe PMC1512000 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.
Scopus20 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.
Scopus50 WoS41 Europe PMC382000 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 PMC212000 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.
Scopus78 WoS75 Europe PMC632000 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.
Scopus94 WoS90 Europe PMC692000 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.
Scopus19 WoS20 Europe PMC132000 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.
Scopus157 WoS142 Europe PMC1152000 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 PMC361999 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 PMC151999 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 PMC561999 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.
Scopus146 WoS130 Europe PMC1131999 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.
Scopus107 WoS87 Europe PMC591999 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.
Scopus247 WoS219 Europe PMC1581999 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 PMC101998 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.
Scopus230 WoS182 Europe PMC1321998 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.
Scopus87 WoS80 Europe PMC541998 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 PMC361998 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 PMC971998 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 PMC841998 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.
Scopus180 WoS161 Europe PMC1261998 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.
Scopus63 WoS51 Europe PMC341998 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.
Scopus20 WoS17 Europe PMC181998 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 PMC471997 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.
Scopus597 WoS563 Europe PMC4171997 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.
Scopus87 WoS75 Europe PMC581997 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.
Scopus11 WoS9 Europe PMC81997 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.
Scopus299 WoS266 Europe PMC1911997 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.
Scopus55 WoS54 Europe PMC461997 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.
Scopus22 WoS21 Europe PMC151997 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 PMC151997 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 PMC391997 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 PMC101997 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.
Scopus1196 WoS1013 Europe PMC7641997 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 PMC241997 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.
Scopus42 WoS38 Europe PMC281996 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 PMC331996 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.
Scopus70 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.
Scopus172 WoS154 Europe PMC1101995 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.
Scopus130 WoS117 Europe PMC931994 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.
Scopus106 WoS90 Europe PMC691994 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.
Scopus22 WoS18 Europe PMC81994 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.
Scopus40 WoS36 Europe PMC251993 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 PMC141993 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.
Scopus85 WoS76 Europe PMC531993 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.
Scopus39 WoS35 Europe PMC241993 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.
Scopus77 WoS70 Europe PMC421992 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.
Scopus102 WoS89 Europe PMC691992 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 (Q<inf>70</inf>X and P<inf>533</inf>R) associate with a severe Hurler phenotype. Human Mutation, 1(4), 333-339.
Scopus81 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.
Scopus73 Europe PMC531991 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 PMC241991 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.
Scopus141 WoS138 Europe PMC881991 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.
Scopus36 WoS29 Europe PMC251990 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.
Scopus84 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. 2023 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. 142 (pp. 3 pages). 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: AMER SOC HEMATOLOGY.
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). Atlanta, GA: AMER SOC HEMATOLOGY.
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 Scopus36 WoS31 Europe PMC252001 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 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 Arthurs, A. L., Jackson, M. R., McCullough, D., Scott, H. S., Barnett, C. P., Webb, S. T., . . . Roberts, C. T. (2024). Circular RNAs correlate with DNA damage in ageing human placental tissue and in stillbirth.
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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 Ms Jiarna Rose 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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