| 2025 |
Weisburd, B., Sharma, R., Pata, V., Reimand, T., Ganesh, V. S., Austin-Tse, C., . . . O'Donnell-Luria, A. (2025). Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets. Genetics in Medicine, 27(4), 101336.
DOI Scopus1 WoS2 Europe PMC2 |
| 2025 |
De Sousa, S. M. C., Phan, J. M. N., Wells, A., Wu, K. H. C., & Scott, H. S. (2025). Improving detection of monogenic diabetes through reanalysis of <i>GCK</i> variants of uncertain significance. ACTA DIABETOLOGICA, online(8), 7 pages.
DOI Scopus1 WoS3 Europe PMC1 |
| 2025 |
De Sousa, S. M. C., Phan, J. M. N., Wells, A., Wu, K. H. C., & Scott, H. S. (2025). Correction to: Improving detection of monogenic diabetes through reanalysis of GCK variants of uncertain significance (Acta Diabetologica, (2025), 10.1007/s00592-025-02449-8). Acta Diabetologica, 62(10), 1827-1828.
DOI |
| 2025 |
Shah, M. V., Hung, K., Baranwal, A., Kutyna, M. M., Al-Kali, A., Toop, C., . . . Hiwase, D. K. (2025). Evidence-based risk stratification of myeloid neoplasms harboring TP53 mutations. Blood Advances, 9(13), 3370-3380.
DOI Scopus6 WoS4 Europe PMC5 |
| 2025 |
Long, S., Schofield, D., Kraindler, J., Vink, R., Ross, K., Hart, N., . . . Roscioli, T. (2025). The PreGen Research Program: Implementing Prenatal Genomic Testing in Australia—A Commentary. Australian and New Zealand Journal of Obstetrics and Gynaecology, 65(4), 543-547.
DOI |
| 2025 |
Erhart, P., Dikow, N., Schwaibold, E. M. C., Dihlmann, S., Grond Ginsbach, C., Koerfer, D., . . . Marbach, F. (2025). Case Report: a heterozygous loss-of-function variant of the ERG gene in a family with vascular pathologies. Frontiers In Cardiovascular Medicine, 12(1550523), 1-7.
DOI |
| 2025 |
Welland, M. J., Ahlquist, K. D., De Fazio, P., Austin-Tse, C., Pais, L., Wedd, L., . . . Stark, Z. (2025). Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.. medRxiv.
DOI |
| 2025 |
Schubert, C. M., Jackson, M. R., Barnett, C. P., Scott, H. S., Sullivan, T., Goodall, S., . . . Genomic Autopsy Study Research Network. (2025). Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death. Clinical Genetics, online(1), 13 pages.
DOI |
| 2025 |
Arthurs, A. L., Jackson, M. R., McCULLOUGH, D., Scott, H. S., Barnett, C. P., Webb, S. T., . . . Roberts, C. T. (2025). Circular RNAs accumulate in aging human placental tissue and in stillbirth, leading to DNA damage and cellular senescence.. American journal of obstetrics and gynecology, S0002-9378(25)00587-3.
DOI |
| 2025 |
Frank, M. S. B., Bennett, M. K., Ha, T. T., Moore, L., Arts, P., Byrne, A. B., . . . Scott, H. S. (2025). Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses. Human Genomics, 19(1, article no. 132), 1-13.
DOI |
| 2025 |
Kusay, Y., Wu, D., De Sousa, S. M. C., Drogemuller, C. J., Coates, P. T., Kok, C. H., & Scott, H. S. (2025). Evaluating NGS variant callers in a challenging genomic context with a focus on the PRSS1-PRSS2 locus for hereditary pancreatitis. Gut, online, 1-3.
DOI |
| 2025 |
Deuitch, N. T., Kajdic, A., Bresciani, E., Horwitz, M. S., Scott, H. S., Craft, K., . . . Liu, P. P. (2025). Germline copy number variants in RUNX1: an updated case report and a decade-old red herring. Bjc Reports, 3(1, article no. 18), 1-4.
DOI |
| 2025 |
Sharplin, K. M., Vassiliou, C., Nguyen, J., Kuss, B. J., Ting, S. B., Mangos, H., . . . Ross, D. M. (2025). Response to venetoclax in patients with blastic plasmacytoid dendritic cell neoplasm. Leukemia Research, 152, 7 pages.
DOI |
| 2025 |
Toubia, J., Kusay, Y., Maqsood, M., Warnock, N. I., Lawrence, D. M., Bracken, C. P., . . . Schreiber, A. W. (2025). TRanscriptome ANalysis of StratifiEd CohorTs (TRANSECT) enables automated assessment of global gene regulation linked to disparate expression in user defined genes and gene sets. NAR Genomics and Bioinformatics, 7(2), lqaf041-1-lqaf041-13.
DOI |
| 2025 |
Wiseman, T., Spooner, M., Khanna, S., Hung, K., Toop, C., Kutyna, M. M., . . . Hiwase, D. K. (2025). RBC Transfusion Dependency Refines the Molecular International Prognostic Scoring System for Myelodysplastic Syndrome. Blood Advances, 9(16), 4244-4247.
DOI Scopus2 Europe PMC2 |
| 2025 |
Shah, M. V., Hung, K., Baranwal, A., Wechalekar, G., Al-Kali, A., Toop, C. R., . . . Hiwase, D. (2025). Validation of the 5th edition of the World Health Organization and International Consensus Classification guidelines for TP53-mutated myeloid neoplasm in an independent international cohort. Blood Cancer Journal, 15(1), 88-1-88-11.
DOI Scopus2 WoS2 Europe PMC1 |
| 2025 |
Kok, C. H., Al-Kali, A., Thomas, D., He, R., Kutyna, M. M., Alkhateeb, H. B., . . . Hiwase, D. K. (2025). RAS Mutation Identifies a Poor Prognostic Molecular Subtype of Therapy-Related Myeloid Neoplasm. Blood Advances, 9(15), 3814-3818.
DOI |
| 2025 |
Homan, C. C., Scott, H. S., & Venugopal, P. (2025). Another Fanconi anemia gene joins the club. Journal of Clinical Investigation, 135(11), e192382-1-e192382-4.
DOI Scopus1 WoS1 Europe PMC1 |
| 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.
DOI Scopus9 WoS7 Europe PMC7 |
| 2024 |
Das, A., MacFarland, S. P., Meade, J., Hansford, J. R., Scott, H. S., & Tabori, U. (2024). Clinical updates and surveillance recommendations for DNA replication repair deficiency syndromes in children and young adults. Clinical cancer research : an official journal of the American Association for Cancer Research, 30(16), 3378-3387.
DOI Scopus16 WoS17 Europe PMC10 |
| 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(107566), 1-10.
DOI Scopus2 WoS2 Europe PMC2 |
| 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, 32(12), 1632-1639.
DOI Scopus2 WoS1 Europe PMC1 |
| 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, 27(1), 101293-1-101293-14.
DOI Scopus3 WoS3 Europe PMC1 |
| 2024 |
Zerella, J. R., Homan, C. C., Arts, P., Lin, X., Spinelli, S. J., Venugopal, P., . . . Hahn, C. N. (2024). Germline ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition. Blood, 144(17), 1765-1780.
DOI Scopus9 WoS8 Europe PMC6 |
| 2024 |
Wechalekar, M. D., Zhao, L. -P., Kutyna, M. M., Hong, L. E., Li, J., Hung, K., . . . Hiwase, D. K. (2024). Myeloid neoplasms arising after methotrexate therapy for autoimmune rheumatological diseases do not exhibit poor-risk molecular features. Blood Cancer Journal, 14(1), 116-1-116-5.
DOI Scopus1 WoS1 Europe PMC1 |
| 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.
DOI Scopus11 WoS10 Europe PMC7 |
| 2024 |
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 : an official journal of the American Association for Cancer Research, 30(20), 4566-4571.
DOI Scopus10 WoS10 Europe PMC8 |
| 2024 |
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.. Aust N Z J Obstet Gynaecol, 64(5), 467-474.
DOI Scopus5 WoS4 Europe PMC4 |
| 2024 |
Venugopal, P., Arts, P., Fox, L. C., Simons, A., Hiwase, D. K., Bardy, P. G., . . . Scott, H. S. (2024). Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion. Blood Advances, 8(13), 3437-3443.
DOI Scopus4 WoS1 Europe PMC2 |
| 2024 |
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 & Metabolism, 109(11), 2720-2728.
DOI Scopus5 WoS5 Europe PMC7 |
| 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.
DOI Scopus11 WoS11 Europe PMC10 |
| 2023 |
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.
DOI Scopus49 WoS50 Europe PMC58 |
| 2023 |
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.
DOI Scopus3 WoS4 Europe PMC4 |
| 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, article no. 118), 1-18.
DOI Scopus12 WoS13 Europe PMC14 |
| 2023 |
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.
DOI Scopus91 WoS91 Europe PMC95 |
| 2023 |
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(1183318), 1-33.
DOI Scopus3 WoS3 Europe PMC4 |
| 2023 |
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.
DOI Scopus29 WoS26 Europe PMC22 |
| 2023 |
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.
DOI Scopus30 WoS26 Europe PMC26 |
| 2023 |
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.
DOI Scopus41 WoS40 Europe PMC35 |
| 2023 |
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.
DOI Scopus46 WoS40 Europe PMC32 |
| 2023 |
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.
DOI Scopus30 WoS30 Europe PMC29 |
| 2023 |
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.
DOI Scopus32 WoS32 Europe PMC30 |
| 2023 |
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.
DOI Scopus2 WoS2 Europe PMC2 |
| 2023 |
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.
DOI Scopus44 WoS44 Europe PMC36 |
| 2023 |
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.
DOI Scopus1 WoS1 Europe PMC1 |
| 2023 |
Scott, H. S., & Barnett, C. P. (2023). Genomic autopsy offers answers for pregnancy loss and perinatal death. NATURE MEDICINE, 29(1), 41-42.
DOI WoS1 Europe PMC1 |
| 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.
DOI Scopus50 WoS46 Europe PMC51 |
| 2023 |
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.
DOI Scopus15 WoS14 Europe PMC14 |
| 2023 |
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.
DOI Scopus19 WoS18 Europe PMC15 |
| 2023 |
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.
DOI Scopus6 WoS6 Europe PMC6 |
| 2023 |
De Sousa, S. M. C., Shen, A., Yates, C. J., Clifton Bligh, R., Santoreneos, S., King, J., . . . Scott, H. S. (2023). PAM variants in patients with thyrotrophinomas, cyclical Cushing's disease and prolactinomas. Frontiers In Endocrinology, 14(1305606), 1-10.
DOI WoS7 Europe PMC5 |
| 2023 |
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.
DOI Scopus10 WoS11 Europe PMC12 |
| 2022 |
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.
DOI Scopus21 WoS21 Europe PMC16 |
| 2022 |
Wu, D., Bampton, T. J., Scott, H. S., Brown, A., Kassahn, K., Drogemuller, C., . . . Coates, P. T. (2022). The clinical and genetic features of hereditary pancreatitis in South Australia.. Medical Journal of Australia, 216(11), 578-582.
DOI Scopus7 WoS5 Europe PMC4 |
| 2022 |
van der Sluijs, P. J., Joosten, M., Alby, C., Attié Bitach, T., Arts, P., Byrne, A., . . . 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.
DOI Scopus17 WoS16 Europe PMC14 |
| 2022 |
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.
DOI Scopus8 WoS6 Europe PMC5 |
| 2022 |
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.
DOI Scopus23 WoS25 Europe PMC26 |
| 2022 |
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.
DOI Scopus4 WoS4 Europe PMC3 |
| 2022 |
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.
DOI Scopus73 WoS75 Europe PMC76 |
| 2022 |
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.
DOI |
| 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.
DOI |
| 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.
DOI Scopus38 WoS29 Europe PMC31 |
| 2022 |
Mikaeel, R. R., Young, J. P., Li, Y., Poplawski, N. K., Smith, E., Feng, J., . . . Price, T. J. (2022). RNF43 pathogenic Germline variant in a family with colorectal cancer. Clinical Genetics, 101(1), 122-126.
DOI Scopus8 WoS8 Europe PMC7 |
| 2022 |
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.
DOI Scopus5 WoS6 Europe PMC4 |
| 2022 |
Qian, X., DeGennaro, E. M., Talukdar, M., Akula, S. K., Scott, H. S., Arts, P., & 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.e13-2396.e13.
DOI Scopus14 WoS13 Europe PMC14 |
| 2022 |
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.
DOI Scopus23 WoS21 Europe PMC24 |
| 2022 |
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.
DOI WoS2 |
| 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.
DOI |
| 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.
DOI Scopus43 WoS37 Europe PMC32 |
| 2021 |
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).
DOI |
| 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.
DOI Scopus51 WoS44 Europe PMC41 |
| 2021 |
Samaraweera, S. E., Wang, P. P. S., Li, K. L., Casolari, D. A., Feng, J., Maung, K. Z. Y., . . . D'Andrea, R. J. (2021). Childhood acute myeloid leukemia shows a high level of germline predisposition. Blood, 138(22), 2293-2298.
DOI Scopus11 WoS9 Europe PMC9 |
| 2021 |
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.
DOI Scopus6 WoS5 Europe PMC7 |
| 2021 |
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.
DOI Scopus48 WoS46 Europe PMC44 |
| 2021 |
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.
DOI Scopus14 WoS12 Europe PMC13 |
| 2020 |
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.
DOI Scopus12 WoS12 Europe PMC12 |
| 2020 |
Corboy, G., Othman, J., Lee, L., Wei, A., Ivey, A., Blombery, P., . . . Stevenson, W. (2020). Laboratory quality assessment of candidate gene panel testing for acute myeloid leukaemia: a joint ALLG / RCPAQAP initiative. Pathology, 53(4), 487-492.
DOI |
| 2020 |
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.
DOI Scopus2 WoS2 Europe PMC2 |
| 2020 |
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.
DOI Scopus13 WoS15 Europe PMC10 |
| 2020 |
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(article no. 18), 2-6.
DOI Scopus6 WoS6 Europe PMC5 |
| 2020 |
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.
DOI Scopus3 WoS3 Europe PMC3 |
| 2020 |
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.
DOI Scopus36 WoS34 Europe PMC29 |
| 2020 |
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.
DOI Scopus13 WoS13 Europe PMC15 |
| 2020 |
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.
DOI Scopus129 WoS117 Europe PMC106 |
| 2020 |
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.
DOI Scopus80 WoS73 Europe PMC78 |
| 2020 |
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.
DOI Scopus14 WoS13 Europe PMC11 |
| 2019 |
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.
DOI Scopus13 WoS11 Europe PMC10 |
| 2019 |
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.
DOI Scopus17 WoS15 Europe PMC16 |
| 2019 |
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.
DOI Scopus122 WoS121 Europe PMC112 |
| 2019 |
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.
DOI Scopus50 WoS48 Europe PMC44 |
| 2019 |
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.
DOI Scopus18 WoS18 Europe PMC19 |
| 2019 |
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.
DOI Scopus25 WoS21 Europe PMC18 |
| 2019 |
Yates, C. J., Shen, A. J. J., King, J., Scott, H., & Colman, P. (2019). Insights into pituitary tumorigenesis: from Sanger sequencing to next-generation sequencing and beyond. Expert Review of Endocrinology & Metabolism, 14(6), 399-418.
DOI Scopus9 WoS10 Europe PMC8 |
| 2019 |
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.
DOI |
| 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.
DOI Scopus5 WoS4 Europe PMC4 |
| 2018 |
De Sousa, S. M. C., Hardy, T. S. E., Scott, H. S., & Torpy, D. J. (2018). Genetic testing in endocrinology. Clinical Biochemist Reviews, 39(1), 17-28.
Scopus16 Europe PMC9 |
| 2018 |
Al Seraihi, A. F., Rio Machin, A., Tawana, K., Bödör, C., Scott, H., Hahn, C., & Fitzgibbon, J. (2018). GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML. Leukemia, 32(11), 2502-2507.
DOI Scopus55 WoS54 Europe PMC54 |
| 2018 |
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.
DOI Scopus169 WoS158 Europe PMC140 |
| 2018 |
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.
DOI Scopus38 WoS37 Europe PMC27 |
| 2018 |
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.
DOI Scopus56 WoS54 Europe PMC52 |
| 2018 |
Scott, H. (2018). Motivation in War: The Experience of Common Soldiers in Old-Regime Europe. JOURNAL OF SOCIAL HISTORY, 51(4), 1106-1107.
DOI |
| 2018 |
Scott, H. (2018). Practices of Diplomacy in the Early Modern World c. 1410-1800. RENAISSANCE QUARTERLY, 71(2), 709-711.
DOI |
| 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.
DOI WoS1 |
| 2017 |
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.
DOI Scopus1 WoS1 Europe PMC1 |
| 2017 |
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.
DOI Scopus7 WoS6 Europe PMC6 |
| 2017 |
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.
DOI Scopus6 WoS6 Europe PMC7 |
| 2017 |
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.
DOI Scopus80 WoS73 Europe PMC70 |
| 2017 |
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), 14-22.
DOI Scopus90 WoS79 Europe PMC67 |
| 2017 |
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.
DOI Scopus101 WoS90 Europe PMC83 |
| 2017 |
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), 54-61.
DOI Scopus96 WoS72 Europe PMC60 |
| 2017 |
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), 46-53.
DOI Scopus146 WoS120 Europe PMC105 |
| 2017 |
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.
DOI Scopus21 WoS17 Europe PMC20 |
| 2017 |
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.
DOI Scopus29 WoS25 Europe PMC23 |
| 2017 |
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.
DOI Scopus6 WoS3 Europe PMC5 |
| 2017 |
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.
DOI Scopus12 WoS11 Europe PMC10 |
| 2017 |
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.
DOI Scopus36 WoS29 Europe PMC27 |
| 2016 |
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.
DOI Scopus1 |
| 2016 |
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.
DOI Scopus4 WoS3 Europe PMC2 |
| 2016 |
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.
DOI Scopus190 WoS188 Europe PMC157 |
| 2016 |
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.
DOI Scopus15 WoS12 Europe PMC11 |
| 2016 |
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.
DOI Scopus2 WoS2 Europe PMC2 |
| 2016 |
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.
DOI Scopus31 WoS23 Europe PMC23 |
| 2016 |
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.
DOI |
| 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.
DOI Scopus606 WoS575 Europe PMC496 |
| 2016 |
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.
DOI |
| 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.
DOI Scopus7 WoS4 Europe PMC4 |
| 2016 |
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), 1-8.
DOI Scopus11 Europe PMC7 |
| 2016 |
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.
DOI Scopus9 WoS9 Europe PMC8 |
| 2016 |
Scott, H. (2016). Status Interaction during the Reign of Louis XIV. EUROPEAN HISTORY QUARTERLY, 46(1), 187-189.
DOI |
| 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.
DOI Scopus68 WoS64 Europe PMC69 |
| 2015 |
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.
DOI Scopus2 WoS2 Europe PMC2 |
| 2015 |
Scott, H. (2015). Two crises and the making of the early modern period: an historiographical review. SOCIAL HISTORY, 40(4), 427-445.
DOI |
| 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.
DOI Scopus107 WoS98 Europe PMC90 |
| 2015 |
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.
DOI Scopus10 WoS10 Europe PMC9 |
| 2015 |
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.
DOI Scopus42 WoS34 Europe PMC32 |
| 2015 |
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(article no. 10940), 10940-1-10940-15.
DOI Scopus33 WoS26 Europe PMC22 |
| 2015 |
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.
DOI Scopus193 WoS175 Europe PMC156 |
| 2015 |
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.
DOI Scopus3 WoS4 Europe PMC2 |
| 2015 |
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.
DOI Scopus42 WoS38 Europe PMC40 |
| 2015 |
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.
DOI Scopus9 WoS10 Europe PMC10 |
| 2015 |
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.
DOI Scopus29 WoS26 Europe PMC28 |
| 2015 |
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.
DOI Europe PMC4 |
| 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.
DOI Scopus2 WoS1 |
| 2014 |
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.
DOI Scopus69 WoS62 Europe PMC53 |
| 2014 |
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 |
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.
DOI Scopus18 WoS18 Europe PMC16 |
| 2014 |
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.
DOI Scopus61 WoS56 Europe PMC48 |
| 2014 |
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.
DOI Scopus28 WoS26 Europe PMC23 |
| 2014 |
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.
DOI Scopus107 WoS94 Europe PMC82 |
| 2014 |
Gagliardi, L., Scott, H., Feng, J., & Torpy, D. (2014). A case of Aromatase deficiency due to a novel CYP19A1 mutation. BMC Endocrine Disorders, 14(16), 1-7.
DOI Scopus38 WoS35 Europe PMC20 |
| 2014 |
Scott, H. S. (2014). When to WES in the Pediatric Disease Clinic? Now!. Human Mutation, 35(1), 5.
DOI |
| 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.
DOI |
| 2014 |
Scott, H. (2014). The Holy Roman Empire, 1495-1806. AUSTRIAN HISTORY YEARBOOK, 45, 244-246. |
| 2013 |
Scott, H. (2013). Ideology and Foreign Policy in Early Modern Europe (1650-1750). ENGLISH HISTORICAL REVIEW, 128(534), 1239-1241.
DOI |
| 2013 |
Scott, H. (2013). Protestant Cosmopolitanism and Diplomatic Culture: Brandenburg-Swedish Relations in the Seventeenth Century. GERMAN HISTORY, 31(3), 413-415.
DOI |
| 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.
DOI |
| 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.
DOI Scopus273 WoS235 Europe PMC224 |
| 2013 |
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.
DOI Scopus22 WoS18 Europe PMC16 |
| 2013 |
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.
DOI Scopus80 WoS79 Europe PMC73 |
| 2013 |
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.
DOI Scopus32 WoS26 Europe PMC24 |
| 2013 |
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.
DOI Scopus41 WoS38 Europe PMC32 |
| 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. Immunology, 137(S1, article no. P0541), 364. |
| 2012 |
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.
DOI Scopus14 WoS11 Europe PMC7 |
| 2012 |
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(19), 19:1-19:16.
DOI Scopus96 WoS83 Europe PMC83 |
| 2012 |
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.
DOI Scopus6 WoS6 Europe PMC5 |
| 2012 |
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.
DOI Scopus56 WoS53 Europe PMC50 |
| 2012 |
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.
DOI Scopus64 WoS57 Europe PMC51 |
| 2012 |
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.
DOI Scopus245 WoS217 Europe PMC204 |
| 2012 |
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.
DOI Scopus29 WoS24 Europe PMC20 |
| 2012 |
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.
DOI Scopus12 WoS13 Europe PMC10 |
| 2012 |
Hahn, C., & Scott, H. (2012). Spliceosome mutations in hematopoietic malignancies. Nature Genetics, 44(1), 9-10.
DOI Scopus54 WoS43 Europe PMC47 |
| 2011 |
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.
DOI Scopus82 WoS75 Europe PMC72 |
| 2011 |
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.
DOI Scopus543 WoS481 Europe PMC438 |
| 2011 |
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.
DOI Scopus172 WoS153 Europe PMC150 |
| 2011 |
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.
DOI Scopus31 WoS30 Europe PMC27 |
| 2011 |
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.
DOI Scopus17 WoS17 Europe PMC15 |
| 2011 |
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.
DOI Scopus76 WoS69 Europe PMC64 |
| 2011 |
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.
DOI Scopus54 WoS47 Europe PMC47 |
| 2011 |
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.
DOI Scopus19 WoS17 Europe PMC16 |
| 2011 |
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.
DOI Scopus2 WoS2 Europe PMC2 |
| 2011 |
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.
DOI Scopus35 WoS34 Europe PMC35 |
| 2011 |
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.
DOI Scopus9 WoS8 Europe PMC7 |
| 2011 |
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.
DOI Scopus42 WoS38 Europe PMC34 |
| 2011 |
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.
DOI Scopus40 WoS35 Europe PMC32 |
| 2011 |
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.
DOI Scopus96 WoS91 Europe PMC91 |
| 2010 |
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.
DOI |
| 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.
DOI Scopus13 WoS13 Europe PMC14 |
| 2010 |
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.
DOI Scopus85 WoS79 Europe PMC75 |
| 2010 |
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.
DOI Scopus9 WoS10 Europe PMC10 |
| 2010 |
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.
DOI Scopus43 WoS38 Europe PMC36 |
| 2010 |
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.
DOI Scopus18 WoS14 Europe PMC11 |
| 2010 |
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.
DOI Scopus46 WoS39 Europe PMC34 |
| 2010 |
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.
DOI Scopus20 WoS19 Europe PMC17 |
| 2010 |
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.
DOI Scopus6 WoS5 Europe PMC3 |
| 2010 |
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.
DOI Scopus52 WoS45 Europe PMC43 |
| 2010 |
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.
DOI Scopus58 WoS56 Europe PMC54 |
| 2010 |
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.
DOI Scopus17 WoS15 Europe PMC17 |
| 2010 |
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.
DOI Scopus10 WoS7 Europe PMC4 |
| 2009 |
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.
DOI Scopus79 WoS77 Europe PMC73 |
| 2009 |
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.
DOI Scopus121 WoS115 Europe PMC103 |
| 2009 |
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.
DOI Scopus49 WoS42 Europe PMC44 |
| 2009 |
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.
DOI Scopus29 WoS28 Europe PMC26 |
| 2009 |
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.
DOI Scopus77 WoS72 Europe PMC68 |
| 2009 |
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.
DOI Scopus5 WoS5 Europe PMC5 |
| 2009 |
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.
DOI Scopus25 WoS22 Europe PMC20 |
| 2009 |
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.
DOI Scopus42 WoS39 Europe PMC42 |
| 2009 |
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.
DOI Scopus43 WoS38 Europe PMC33 |
| 2009 |
Drini, M., Wong, N. C., Scot, H. S., Craig, J. M., Dobrovic, A., Hewitt, C. A., . . . Macrae, F. A. (2009). The role of genetic and epigenetic variation of DNA methyltransferases in hyperplastic polyposis syndrome. JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, 24, A247. |
| 2009 |
Roberts, N. A., Desanti, G. E., Withers, D. R., Scott, H. R., Jenkinson, W. E., Lane, P. J. L., . . . Anderson, G. (2009). Absence of thymus crosstalk in the fetus does not preclude hematopoietic induction of a functional thymus in the adult. European Journal of Immunology, 39(9), 2395-2402.
DOI Scopus25 WoS26 Europe PMC21 |
| 2008 |
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.
DOI |
| 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.
DOI Scopus254 WoS188 Europe PMC144 |
| 2008 |
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.
DOI Scopus73 WoS64 Europe PMC58 |
| 2008 |
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.
DOI Scopus78 WoS71 Europe PMC71 |
| 2008 |
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.
DOI Scopus75 WoS68 Europe PMC65 |
| 2008 |
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.
DOI Scopus91 WoS84 Europe PMC83 |
| 2008 |
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.
DOI Scopus95 WoS91 Europe PMC85 |
| 2008 |
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.
DOI Scopus11 WoS10 Europe PMC9 |
| 2008 |
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.
DOI Scopus224 WoS210 Europe PMC209 |
| 2008 |
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.
DOI Scopus94 WoS85 Europe PMC77 |
| 2008 |
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.
DOI Scopus110 WoS100 Europe PMC95 |
| 2008 |
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.
DOI Scopus77 WoS65 Europe PMC67 |
| 2008 |
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.
DOI Scopus62 WoS59 Europe PMC48 |
| 2008 |
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.
DOI Scopus42 WoS34 Europe PMC31 |
| 2008 |
Kont, V., Laan, M., Kisand, K., Merits, A., Scott, H. S., & Part, P. (2008). Modulation of Aire regulates the expression of tissue-restricted antigens. Molecular immunology, 45(1), 25-33.
DOI Scopus84 WoS82 Europe PMC79 |
| 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.
DOI Scopus83 WoS67 Europe PMC62 |
| 2007 |
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.
DOI Scopus184 WoS170 Europe PMC174 |
| 2007 |
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.
DOI Scopus85 WoS70 Europe PMC61 |
| 2007 |
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.
DOI Scopus66 WoS59 Europe PMC53 |
| 2007 |
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.
DOI Scopus6 WoS4 Europe PMC3 |
| 2007 |
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.
DOI Scopus146 WoS143 Europe PMC126 |
| 2007 |
Rossi, S. W., Kim, M. Y., Leibbrandt, A., Parnell, S. M., Jenkinson, W. E., Glanville, S. H., . . . Anderson, G. (2007). RANK signals from CD4+3- inducer cells regulate development of Aire-expressing epithelial cells in the thymic medulla. Journal of Experimental Medicine, 204(6), 1267-1272.
DOI Scopus415 WoS401 Europe PMC380 |
| 2007 |
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.
DOI Scopus8 WoS7 Europe PMC6 |
| 2007 |
Carmichael, C., & Scott, H. (2007). Familial aspects of haematological malignancy. Cancer Forum, 31(3), 160-164. |
| 2006 |
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.
DOI Scopus62 WoS60 Europe PMC53 |
| 2006 |
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.
DOI Scopus14 WoS14 Europe PMC13 |
| 2006 |
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.
DOI Scopus39 WoS37 Europe PMC39 |
| 2006 |
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.
DOI Scopus50 WoS49 Europe PMC44 |
| 2005 |
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.
DOI Scopus250 WoS233 Europe PMC208 |
| 2005 |
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.
DOI Scopus3 WoS3 Europe PMC3 |
| 2005 |
Scott, H. S. (2005). Technophiles seek genomic imperfections with the Greek gods at Atlantis. Nature Genetics, 37(10), 1019-1021.
DOI |
| 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.
DOI Scopus13 WoS13 Europe PMC12 |
| 2005 |
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.
DOI Scopus1141 WoS1142 Europe PMC1138 |
| 2005 |
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.
DOI WoS1 |
| 2005 |
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.
DOI Scopus3 WoS4 Europe PMC2 |
| 2004 |
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.
DOI Scopus13 WoS14 Europe PMC14 |
| 2004 |
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.
DOI Scopus6 WoS4 Europe PMC3 |
| 2004 |
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.
Scopus1 |
| 2004 |
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.
DOI Scopus4 WoS4 Europe PMC1 |
| 2004 |
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.
DOI Scopus263 WoS237 Europe PMC220 |
| 2004 |
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.
DOI Scopus94 WoS81 Europe PMC64 |
| 2004 |
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.
DOI Scopus9 WoS9 Europe PMC9 |
| 2004 |
Beißbarth, T., Hyde, L., Smyth, G. K., Job, C., Boon, W. M., Tan, S. S., . . . Speed, T. P. (2004). Statistical modeling of sequencing errors in SAGE libraries. Bioinformatics, 20(SUPPL. 1), i31-i39.
DOI Scopus89 WoS87 Europe PMC84 |
| 2003 |
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.
DOI Scopus18 WoS17 Europe PMC9 |
| 2003 |
Michaud, J., Scott, H. S., & Escher, R. (2003). AML1 interconnected pathways of leukemogenesis. Cancer Investigation, 21(1), 105-136.
DOI Scopus40 WoS35 Europe PMC32 |
| 2003 |
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.
DOI Scopus33 WoS32 Europe PMC30 |
| 2003 |
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.
DOI Scopus38 WoS35 Europe PMC23 |
| 2003 |
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.
DOI Scopus101 WoS91 Europe PMC80 |
| 2003 |
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.
DOI |
| 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.
DOI WoS1 |
| 2002 |
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.
DOI Scopus3 WoS1 Europe PMC1 |
| 2002 |
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.
DOI Scopus347 WoS297 Europe PMC254 |
| 2002 |
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.
DOI Scopus155 WoS143 Europe PMC129 |
| 2002 |
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.
DOI Scopus64 WoS58 Europe PMC49 |
| 2001 |
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.
DOI Scopus129 WoS109 Europe PMC79 |
| 2001 |
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.
DOI Scopus49 WoS48 Europe PMC44 |
| 2001 |
Scott, H. S., & Chrast, R. (2001). Global transcript expression profiling by Serial Analysis of Gene Expression (SAGE).. Genetic Engineering, 23, 201-219.
DOI Scopus13 Europe PMC6 |
| 2001 |
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.
DOI Scopus212 WoS191 Europe PMC160 |
| 2001 |
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.
DOI Scopus43 WoS40 Europe PMC31 |
| 2001 |
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.
DOI Scopus48 WoS40 Europe PMC33 |
| 2001 |
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.
DOI WoS62 Europe PMC52 |
| 2001 |
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.
DOI Scopus52 WoS49 Europe PMC41 |
| 2000 |
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.
DOI Scopus21 WoS20 Europe PMC14 |
| 2000 |
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.
DOI Scopus246 WoS222 Europe PMC189 |
| 2000 |
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.
DOI Scopus213 WoS182 Europe PMC158 |
| 2000 |
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.
DOI Scopus55 WoS50 Europe PMC44 |
| 2000 |
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.
DOI Scopus29 WoS27 Europe PMC22 |
| 2000 |
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.
DOI Scopus79 WoS77 Europe PMC68 |
| 2000 |
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.
DOI Scopus95 WoS90 Europe PMC77 |
| 2000 |
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.
DOI Scopus21 WoS22 Europe PMC16 |
| 2000 |
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.
DOI Scopus3 Europe PMC3 |
| 2000 |
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.
DOI Scopus161 WoS147 Europe PMC131 |
| 1999 |
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.
DOI Scopus53 WoS52 Europe PMC43 |
| 1999 |
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.
DOI Scopus45 WoS43 Europe PMC29 |
| 1999 |
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.
DOI Scopus150 WoS137 Europe PMC126 |
| 1999 |
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.
DOI Scopus25 WoS23 Europe PMC18 |
| 1999 |
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.
DOI Scopus71 WoS67 Europe PMC62 |
| 1999 |
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.
DOI Scopus254 WoS228 Europe PMC193 |
| 1999 |
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.
DOI Scopus109 WoS90 Europe PMC69 |
| 1999 |
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.
DOI Scopus14 WoS13 Europe PMC11 |
| 1998 |
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.
DOI Scopus235 WoS188 Europe PMC145 |
| 1998 |
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.
DOI Scopus13 WoS13 Europe PMC9 |
| 1998 |
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.
DOI Scopus88 WoS82 Europe PMC71 |
| 1998 |
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.
DOI Scopus63 WoS59 Europe PMC42 |
| 1998 |
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.
DOI Scopus151 WoS140 Europe PMC133 |
| 1998 |
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.
DOI Scopus165 WoS130 Europe PMC95 |
| 1998 |
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.
DOI Scopus187 WoS170 Europe PMC145 |
| 1998 |
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.
DOI Scopus66 WoS55 Europe PMC42 |
| 1998 |
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.
DOI Scopus13 WoS11 Europe PMC10 |
| 1998 |
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.
DOI Scopus23 WoS23 Europe PMC21 |
| 1998 |
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.
DOI Scopus95 WoS75 Europe PMC58 |
| 1997 |
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.
DOI Scopus616 WoS583 Europe PMC501 |
| 1997 |
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.
DOI Scopus89 WoS76 Europe PMC62 |
| 1997 |
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.
DOI Scopus12 WoS12 Europe PMC10 |
| 1997 |
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.
DOI Scopus307 WoS280 Europe PMC221 |
| 1997 |
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.
DOI Scopus58 WoS57 Europe PMC51 |
| 1997 |
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.
DOI Scopus23 WoS21 Europe PMC19 |
| 1997 |
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.
DOI Scopus17 WoS16 Europe PMC16 |
| 1997 |
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.
DOI Scopus63 WoS60 Europe PMC45 |
| 1997 |
Lalioti, M. D., Scott, H. S., & Antonarakis, S. E. (1997). What is expanded in progressive myoclonus epilepsy?. Nature Genetics, 17(1), 17.
DOI Scopus15 WoS12 Europe PMC11 |
| 1997 |
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.
DOI Scopus1237 WoS1057 Europe PMC892 |
| 1997 |
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.
DOI Scopus34 WoS34 Europe PMC25 |
| 1997 |
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.
DOI Scopus44 WoS39 Europe PMC34 |
| 1996 |
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.
DOI Scopus46 Europe PMC37 |
| 1996 |
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.
DOI Scopus73 WoS68 Europe PMC53 |
| 1996 |
Antonarakis, S. E., & Scott, H. S. (1996). The human genome project and its impact in medicine. European Review, 4(04), 415.
DOI |
| 1996 |
Antonarakis, S. E., & Scott, H. S. (1996). The human genome project and its impact in medicine. European Review, 4(4), 415-426.
DOI |
| 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.
DOI Scopus179 WoS159 Europe PMC124 |
| 1995 |
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.
DOI Scopus138 WoS123 Europe PMC107 |
| 1994 |
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.
DOI Scopus109 WoS93 Europe PMC72 |
| 1994 |
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.
DOI Scopus25 WoS18 Europe PMC13 |
| 1994 |
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.
DOI Scopus42 WoS37 Europe PMC28 |
| 1993 |
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.
DOI Scopus21 WoS18 Europe PMC16 |
| 1993 |
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.
Scopus88 WoS78 Europe PMC58 |
| 1993 |
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.
DOI Scopus40 WoS37 Europe PMC30 |
| 1993 |
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.
DOI Scopus79 WoS72 Europe PMC48 |
| 1992 |
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.
DOI Scopus16 WoS13 Europe PMC12 |
| 1992 |
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.
DOI Scopus10 WoS10 Europe PMC7 |
| 1992 |
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.
DOI Scopus8 WoS9 Europe PMC4 |
| 1992 |
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.
DOI Scopus107 WoS92 Europe PMC77 |
| 1992 |
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.
DOI Scopus11 WoS11 Europe PMC7 |
| 1992 |
Scott, H. S., Litjens, T., Nelson, P. V., Brooks, D. A., Hopwood, J. J., & Morris, C. P. (1992). α‐L‐iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. Human Mutation, 1(4), 333-339.
DOI Scopus82 Europe PMC65 |
| 1992 |
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.
DOI Scopus76 Europe PMC61 |
| 1991 |
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.
DOI Scopus23 WoS24 Europe PMC23 |
| 1991 |
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.
DOI Scopus144 WoS139 Europe PMC98 |
| 1991 |
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.
DOI Scopus15 WoS13 Europe PMC13 |
| 1991 |
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.
DOI Scopus37 WoS29 Europe PMC26 |
| 1990 |
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.
Scopus88 WoS72 Europe PMC55 |
| - |
Song, R., Mikaeel, R. R., He, Z., Horsnell, M., Uylaki, W., Meng, W., . . . Fan, X. (2025). Identification of Novel Susceptibility Genes for Early-Onset Colorectal Cancer Through Germline Rare Variant Burden Testing. Cancers, 17(24), 3931.
DOI |
