Prof Hamish Scott
Centre for Cancer Biology
College of Health
Eligible to supervise Masters and PhD - email supervisor to discuss availability.
Hamish leads a dynamic diagnostic and academic department of Genetics and Molecular Pathology at SA Pathology, including their genome laboratories and facilities. The integration of basic and clinical research is facilitated by the Centre for Cancer Biology, an SA Pathology and UniSA alliance, and students from both UniSA and the University of Adelaide. He advocates for, uses, and helps build national and international diagnostic and research collaborative genomic networks for patient benefit. These collaborations have advanced our understanding not only of genetic disease in diverse areas such as stillbirth and cancer predisposition, but informed fundamental developmental biology.
All disease processes in humans have a genetic component, either inherited or acquired by somatic mutation during cell division. It is important to identify genes and mutations that cause disease, predispose families to diseases, or are acquired during disease progression as these are important diagnostic and prognostic markers. They also provide direct targets and biological pathways for therapeutic intervention.
The Molecular Pathology department is co-located with the ACRF Cancer Genomics Facility, which provides access to powerful cutting edge genetic/genomic technologies including bioinformatics, next-generation sequencing and sample preparation robotics. The Department performs both basic and translational research, which includes implementing these new technologies into its diagnostic tests for personalized medicine.
| Language | Competency |
|---|---|
| French | Can read, speak and understand spoken |
| Italian | Can read, speak and understand spoken |
| Date | Institution name | Country | Title |
|---|---|---|---|
| University of Adelaide | Australia | PhD |
| Year | Citation |
|---|---|
| 2003 | Antonarakis, S., & Scott, H. (2003). Tmprss3. In Genetic Hearing Loss. CRC Press. DOI |
| Year | Citation |
|---|---|
| 2025 | Branford, S., Wadham, C., Shahrin, N. H., Saunders, V., Kenyon, R., Lin, M., . . . Hughes, T. (2025). Whole genome sequencing reveals that the Philadelphia chromosome (Ph) can evolve and gain complex chromoplectic sequence rearrangements associated with tyrosine kinase inhibitor (TKI) resistance. In BLOOD Vol. 146 (pp. 3771). FL, Orlando: ELSEVIER. DOI |
| 2025 | Hiwase, D., Tessier, S., Hung, K., He, R., Abdelmagid, M., Rud, D., . . . Tefferi, A. (2025). Integrated prognostic model for TP53-mutated myeloid neoplasms across all myeloid neoplasm subtypes. In BLOOD Vol. 146 (pp. 2087-2088). FL, Orlando: ELSEVIER. DOI |
| 2025 | Li, J., Dowling, M., Jeffrey, A., Farina, S., Boyle, S., MacDonald, R., . . . Thompson, P. (2025). Multi-centre real-world outcome of patients with Richter transformation receiving CD19-directed commercial CAR T-cell therapy in Australia.. In BLOOD Vol. 146 (pp. 2779-2780). FL, Orlando: ELSEVIER. DOI |
| 2025 | Dowling, M., Vanguru, V., Boyle, S., Cashion, C., Inam, S., Buss, T., . . . Dickinson, M. (2025). A simple scoring system for response and toxicity following lymphoma CAR-T: Results from the Australian CAR-T real-world consortium. In BLOOD Vol. 146 (pp. 399-400). FL, Orlando: ELSEVIER. DOI |
| 2024 | Shah, M., Hung, K., Baranwal, A., Price, Z., Al-Kali, A., Toop, C., . . . Hiwase, D. (2024). The 66th ASH Annual Meeting Abstract Abstracts. In BLOOD Vol. 144 (pp. 3214). ELSEVIER. |
| 2024 | Welland, M., Ahlquist, K., De Fazio, P., Austin-Tse, C., Pais, L., Wedd, L., . . . Stark, Z. (2024). Scalable automated reanalysis in rare disease: achieving high performance while limiting curation burden in diverse clinical and research cohorts. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 32 (pp. 827-828). GERMANY, Berlin: SPRINGERNATURE. |
| 2024 | Wiseman, T., Spooner, M., Khanna, S., Hung, K., Toop, C., Singhal, D., . . . Hiwase, D. (2024). Dynamic Assessment of RBC-Transfusion Dependency (RBC-TD) Improves the Molecular International Prognostic. In BLOOD Vol. 144 (pp. 3209). ELSEVIER. DOI WoS1 |
| 2024 | Blunt, D. N., Harrup, R., Amor, G., Christensen, H., Finlayson, S., Lin, F., . . . Lane, S. W. (2024). Durvalumab and Acalabrutinib for Relapsed/Refractory (r/r) High-Grade B-Cell Lymphoma: MoST15, Open Label Phase II Sub-Study of the Molecular Screening and Therapeutics in Leukaemia and Lymphoma (MoST-LLy) Framework. In BLOOD Vol. 144 (pp. 1728). FL, Orlando: ELSEVIER. DOI |
| 2024 | Hiwase, D., Price, Z., Kok, C. H., Kutyna, M., Singhal, D., Shanmuganathan, N., . . . Scott, H. S. (2024). Pathogenic Germline Variants in the DNA Damage Repair Pathway Are Enriched in Patients with Hematologic Malignancies with Prior Exposure to Cytotoxic Therapies Compared to Patients with Multiple Cancers without Prior Exposure. In BLOOD Vol. 144 (pp. 4596-4597). FL, Orlando: ELSEVIER. DOI |
| 2024 | Wiseman, T., Spooner, M., Khanna, S., Hung, K., Toop, C., Singhal, D., . . . Hiwase, D. (2024). Higher Rate of Red Blood Cell (RBC) Alloimmunization in RBC-Transfused Myelodysplastic Syndrome Compared to Acute Myeloid Leukemia. In BLOOD Vol. 144 (pp. 1267-1268). FL, Orlando: ELSEVIER. DOI WoS1 |
| 2024 | Arthurs, A., McCullough, D., Jackson, M., Scott, H., Barnett, C., Dekker, G., & Roberts, C. (2024). CIRCULAR RNAS (CIRCRNAS) CAUSE DNA DAMAGE AND CHARACTERISE ACCELERATED AGEING IN STILLBIRTH PLACENTA. In PLACENTA Vol. 154 (pp. E17). W B SAUNDERS CO LTD. |
| 2023 | Kittai, A. S., Huang, Y., Miller, S., Allan, J. N., Bhat, S. A., Bond, D. A., . . . Woyach, J. A. (2023). Outcomes of Patients with Richter Transformation without Prior Chemoimmunotherapy for CLL/SLL: An International Multicenter Retrospective Study. In BLOOD Vol. 142 (pp. 9 pages). CA, San Diego: AMER SOC HEMATOLOGY. DOI WoS3 |
| 2023 | Shah, M. V., Kutyna, M., Shah, S., Tran, E. N. H., Baranwal, A., Ladon, D., . . . Hiwase, D. (2023). Comparison of World Health Organization and International Consensus Classification Guidelines for Myeloid Neoplasms Harboring TP53-Mutations Using an Independent International Cohort. In BLOOD Vol. 142 (pp. 4 pages). CA, San Diego: ELSEVIER. DOI WoS4 |
| 2023 | Scott, H. S., Zerella, J., Homan, C., Arts, P., Lin, S., Spinelli, S. J., . . . Hahn, C. N. (2023). ERG Is a New Predisposition Gene for Bone Marrow Failure and Hematological Malignancy. In BLOOD Vol. 144 (pp. LBA8). CA, San Diego: ELSEVIER. DOI WoS2 |
| 2023 | Hong, L. E., Kok, C. H., Kutyna, M., Li, J. J., Chhetri, R., Ross, D. M., . . . Hiwase, D. (2023). High Prevalence of IDH Mutation in Myeloid Neoplasm with Concomitant Autoimmune Rheumatic Disorders. In BLOOD Vol. 142 (pp. 4 pages). CA, San Diego: ELSEVIER. DOI |
| 2023 | Hiwase, D., Baranwal, A., Shah, S., Kutyna, M., Hahn, C. N., Abdelmajid, M., . . . Shah, M. V. (2023). Single-Hit TP53 mut Is Associated with Poor Outcomes in Therapy-Related but Not De Novo Myelodysplastic Syndromes: Importance of Clinical History. In BLOOD Vol. 142 (pp. 4 pages). CA, San Diego: ELSEVIER. DOI |
| 2023 | Bolukbasi, E. Y., Karolak, J., Gambin, T., Szafranski, P., Matsika, A., McManus, S., . . . Stankiewicz, P. (2023). Complex compound inheritance in a four-generation ACDMPV family. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 31 (pp. 116-117). AUSTRIA, Vienna: SPRINGERNATURE. |
| 2022 | Lin, F. P. -Y., Thavaneswaran, S., Grady, J. P., Napier, C. E., Kansara, M., Sebastian, L., . . . Thomas, D. M. (2022). Molecular therapy selection in treatment-refractory advanced cancers: A retrospective cohort study determining the utility of TOPOGRAPH knowledge base.. In JOURNAL OF CLINICAL ONCOLOGY Vol. 40 (pp. 1 page). ELECTR NETWORK: LIPPINCOTT WILLIAMS & WILKINS. WoS1 |
| 2022 | Wilson, M. R., Eyre, T. A., Kirkwood, A. A., Doo, N. W., Soussain, C., Choquet, S., . . . McKay, P. (2022). Timing of high-dose methotrexate CNS prophylaxis in DLBCL: a multicenter international analysis of 1384 patients. In BLOOD Vol. 139 (pp. 2499-2511). GA, Atlanta: AMER SOC HEMATOLOGY. DOI WoS73 |
| 2021 | Mizumoto, S., Byrne, A., Sugahara, K., Yamada, S., & Scott, H. (2021). Pathogenic variants in uridine diphosphate nucleoti dase (<i>CANT1</i>) or glucuronyltransferase (<i>B3GAT3</i>) causes a pseudodiastrophic dysplasia. In FASEB JOURNAL Vol. 35 (pp. 1 page). ELECTR NETWORK: WILEY. DOI |
| 2021 | Hahn, C. N., Feurstein, S. K., Singhal, D., Kutyna, M. M., Chhetri, R., Wee, A., . . . Hiwase, D. (2021). Unexpected High Frequency of Pathogenic Germline Variants in Older Adults with Primary Myelodysplastic Syndrome. In BLOOD Vol. 138 (pp. 4 pages). GA, Atlanta: ELSEVIER. DOI WoS1 |
| 2020 | Mizumoto, S., Byrne, A. B., Sugahara, K., Yamada, S., & Scott, H. S. (2020). A pseudodiastrophic dysplasia is caused by pathogenic variants in calcium-activated nucleotidase-1 and glucuronyltransferase-I. In GLYCOBIOLOGY Vol. 30 (pp. 1080-1081). OXFORD UNIV PRESS INC. |
| 2020 | Stephenson, M., Renz, J., & Ge, X. (2020). The Computational Complexity of Angry Birds. In C. Bessiere (Ed.), PROCEEDINGS OF THE TWENTY-NINTH INTERNATIONAL JOINT CONFERENCE ON ARTIFICIAL INTELLIGENCE (pp. 5105-5109). ELECTR NETWORK: IJCAI-INT JOINT CONF ARTIF INTELL. |
| 2020 | Kee, D., Kondrashova, O., Ananda, S., Brown, M. P., Cohen, P. A., Dean, A., . . . Scott, C. L. (2020). NOMINATOR: Feasibility of genomic testing of rare cancers to match cancer to treatment.. In JOURNAL OF CLINICAL ONCOLOGY Vol. 38 (pp. 2 pages). ELECTR NETWORK: LIPPINCOTT WILLIAMS & WILKINS. |
| 2019 | Singhal, D., Hahn, C. N., Moma, L. D., Wee, L. Y. A., Chhetri, R., Babic, M., . . . Hiwase, D. K. (2019). Deleterious Germline Variants, Especially in the DNA Repair Pathway, Are Common in Patients with Non-Related Multiple Cancers, One of Them Being Hematological Malignancy. In BLOOD Vol. 134 (pp. 3 pages). FL, Orlando: ELSEVIER. DOI WoS1 |
| 2019 | Venugopal, P., Cheah, J. J. C., Eshraghi, L., Shahrin, N. H., Homan, C., Feng, J., . . . Scott, H. S. (2019). An Integrative Genomic Approach to Examine Mutations and Biological Pathways Associated with Hematological Malignancy Development in DDX41 Mutated Families. In BLOOD Vol. 134 (pp. 3 pages). FL, Orlando: ELSEVIER. DOI WoS2 |
| 2019 | Brown, A. L., Babic, M., Schreiber, A., Feng, J., Dobbins, J., Arts, P., . . . Scott, H. S. (2019). Familial Clustering of Hematological Malignancies: Harbingers of Wider Germline Cancer Susceptibility. In BLOOD Vol. 134 (pp. 3 pages). FL, Orlando: ELSEVIER. DOI |
| 2019 | Hahn, C. N., Babic, M., Brautigan, P. J., Venugopal, P., Phillips, K., Dobbins, J., . . . Scott, H. S. (2019). Australian Familial Haematological Cancer Study - Findings from 15 Years of Aggregated Clinical, Genomic and Transcriptomic Data. In BLOOD Vol. 134 (pp. 4 pages). FL, Orlando: ELSEVIER. DOI WoS2 |
| 2019 | Branford, S., Wadham, C., Shanmuganathan, N., Thomson, D., Shahrin, N. U. R. H., Feng, J., . . . Hughes, T. P. (2019). An RNA-Based Next Generation Sequencing (NGS) Strategy Detects More Cancer Gene Mutations Than a DNA-Based Approach for the Prediction and Assessment of Resistance in CML. In BLOOD Vol. 134 (pp. 4 pages). FL, Orlando: ELSEVIER. DOI |
| 2019 | Shanmuganathan, N., Thomson, D., Wadham, C., Saunders, V. A., Shahrin, N. H., Yeung, D. T., . . . Branford, S. (2019). RNA Splicing Defects in Cancer-Linked Genes Indicate Mutation or Focal Gene Deletion and Are Associated with TKI Resistance in CML. In BLOOD Vol. 134 (pp. 4 pages). FL, Orlando: ELSEVIER. DOI WoS1 |
| 2019 | Venugopal, P., Babic, M., Barnett, C., Bray, S., Brown, A., Cheah, J., . . . Young, C. C. (2019). IMPLICATIONS OF REVERTANT SOMATIC MOSAICISM IN BONE MARROW FAILURE SYNDROMES. In EXPERIMENTAL HEMATOLOGY Vol. 76 (pp. S90). ELSEVIER SCIENCE INC. DOI |
| 2019 | Cheah, J., Brown, A., Eshraghi, L., Feng, J., Schreiber, A., Babic, M., . . . Scott, H. (2019). AN INTEGRATIVE GENOMIC APPROACH TO EXAMINE MUTATIONS AND BIOLOGICAL PATHWAYS ASSOCIATED WITH HAEMATOLOGICAL MALIGNANCY DEVELOPMENT IN DDX41 MUTATED FAMILIES. In EXPERIMENTAL HEMATOLOGY Vol. 76 (pp. S61). ELSEVIER SCIENCE INC. |
| 2017 | Brown, A. L., Churpek, J., Hahn, C. N., & Scott, H. S. (2017). Clonal Evolution in the Setting of Germline Predisposition. In BLOOD Vol. 130 (pp. 1 page). GA, Atlanta: AMER SOC HEMATOLOGY. WoS3 |
| 2017 | Singhal, D., Wee, A., Parker, W., Moore, S., Babic, M., Feng, J., . . . Hiwase, D. K. (2017). Presence of Rare Germline Variants in Fanconi Anaemia Pathway Genes Confers a Poor Prognosis Comparable to <i>TP53</i> Mutations in Therapy-Related Myeloid Neoplasms. In BLOOD Vol. 130 (pp. 3 pages). Atlanta, GA: AMER SOC HEMATOLOGY. WoS2 |
| 2017 | Branford, S., Wang, P., Yeung, D., Purins, A., Marum, J. E., Nataren, N., . . . Hughes, T. P. (2017). Integrative Genomics Reveals Cancer Associated Mutations Are Common at Diagnosis of CML in Patients with Poor Response to TKI Therapy. In BLOOD Vol. 130 (pp. 4 pages). GA, Atlanta: AMER SOC HEMATOLOGY. |
| 2017 | Hahn, C. N., Wee, A., Babic, M., Feng, J., Wang, P., Kutyna, M. M., . . . Scott, H. S. (2017). Duplication on Chromosome 14q Identified in Familial Predisposition to Myeloid Malignancies and Myeloproliferative Neoplasms. In BLOOD Vol. 130 (pp. 2 pages). Atlanta, GA: AMER SOC HEMATOLOGY. WoS3 |
| 2016 | Marum, J. E., Wang, P. P. S., Stangl, D., Yeung, D. T., Mueller, M. C., Dietz, C. T., . . . Branford, S. (2016). Novel Fusion Genes at CML Diagnosis Reveal a Complex Pattern of Genomic Rearrangements and Sequence Inversions Associated with the Philadelphia Chromosome in Patients with Early Blast Crisis. In BLOOD Vol. 128 (pp. 6 pages). CA, San Diego: AMER SOC HEMATOLOGY. DOI WoS2 |
| 2016 | Singhal, D., Wee, L. A., Parker, W. T., Moore, S., Babic, M., Feng, J., . . . Hiwase, D. K. (2016). The Frequency of Genetic Mutations in T-MN Is High and Comparable to Primary MDS but the Spectrum Is Different. In BLOOD Vol. 128 (pp. 5 pages). San Diego, CA: AMER SOC HEMATOLOGY. DOI |
| 2016 | Bassal, M. A., Leo, P., Samaraweera, S. E., Maung, K. Z. Y., Babic, M., Venugopal, P., . . . D'Andrea, R. (2016). Metabolic Profiling of Adult Acute Myeloid Leukemia (AML). In BLOOD Vol. 128 (pp. 6 pages). San Diego, CA: AMER SOC HEMATOLOGY. DOI WoS1 |
| 2016 | Brown, A. L., Hahn, C. N., Carmichael, C., Wilkins, E., Babic, M., Chong, C. -E., . . . Scott, H. S. (2016). Expanded Phenotypic and Genetic Heterogeneity in the Clinical Spectrum of FPD-AML: Lymphoid Malignancies and Skin Disorders Are Common Features in Carriers of Germline <i>RUNX1</i> Mutations. In BLOOD Vol. 128 (pp. 6 pages). San Diego, CA: AMER SOC HEMATOLOGY. DOI WoS2 |
| 2015 | Yeung, D. T., Parker, W. T., Phillis, S., Georgievski, J., Scott, H. S., Hughes, T. P., & Branford, S. (2015). BCR-ABL Assay Sensitivity of MR4.5 Achieved in >90%, and MR5 in >75% of Samples, through mRNA Selection before qRT-PCR. In BLOOD Vol. 126 (pp. 3 pages). Orlando, FL: AMER SOC HEMATOLOGY. |
| 2015 | Hahn, C. N., Babic, M., Schreiber, A. W., Kutyna, M. M., Wee, L. A., Brown, A. L., . . . Hiwase, D. (2015). Rare and Common Germline Variants Contribute to Occurrence of Myelodysplastic Syndrome. In BLOOD Vol. 126 (pp. 4 pages). Orlando, FL: AMER SOC HEMATOLOGY. DOI WoS3 |
| 2015 | Branford, S., Wang, P. P. S., Parker, W. T., Yeung, D., Marum, J. E., Stangl, D., . . . Hughes, T. P. (2015). High Incidence of Mutated Cancer-Associated Genes at Diagnosis in CML Patients with Early Transformation to Blast Crisis. In BLOOD Vol. 126 (pp. 4 pages). Orlando, FL: AMER SOC HEMATOLOGY. |
| 2015 | Hiwase, D., Hahn, C., Babic, M., Moore, S., Singhal, D., Kutyna, M., . . . Scott, H. (2015). MULTIPLE MUTATIONS IN THE SAME GENE SUGGEST CLONAL DIVERSITY AND IS ASSOCIATED WITH POOR PROGNOSIS IN MDS. In LEUKEMIA RESEARCH Vol. 39 (pp. S77-S78). Washington, DC: PERGAMON-ELSEVIER SCIENCE LTD. DOI |
| 2015 | Hiwase, D., Moore, S., Kutyna, M., Fraser, R., Singhal, D., Chhetri, R., . . . Scott, H. (2015). SNP-MICROARRAY OF PERIPHERAL BLOOD-GRANULOCYTES DNA CAN DETECT CLONAL EVOLUTION IN MYELODYSPLASTIC SYNDROMES (MDS). In LEUKEMIA RESEARCH Vol. 39 (pp. S79-S80). Washington, DC: PERGAMON-ELSEVIER SCIENCE LTD. DOI |
| 2015 | Hiwase, D., Moore, S., Hahn, C., Kutyna, M., Van der Hoek, M., Fraser, R., . . . Scott, H. (2015). TARGETED MUTATION SEQUENCING AND SNP-MICRORRAY CAN IDENTIFY POOR PROGNOSTIC GROUP IN IPSS-LOWER RISK GROUP. In LEUKEMIA RESEARCH Vol. 39 (pp. S78-S79). Washington, DC: PERGAMON-ELSEVIER SCIENCE LTD. DOI |
| 2015 | Scott, H. (2015). 'The Line of Descent of Nobles is from the Blood of Kings': Reflections on Dynastic Identity. In L. Geevers, & M. Marini (Eds.), DYNASTIC IDENTITY IN EARLY MODERN EUROPE: RULERS, ARISTOCRATS AND THE FORMATION OF IDENTITIES (pp. 217-241). NETHERLANDS, VU Univ Amsterdam, Amsterdam: ROUTLEDGE. WoS5 |
| 2014 | Ling, K., Lee, H., Brautigan, P., Moore, S., Fraser, R., Cheah, P., . . . Scott, H. (2014). Deciphering the secret role of Sox4 gene locus during mouse cerebral corticogenesis. In Journal of Neurochemistry Vol. 130 (pp. 8). Kaohsiung, Taiwan: Wiley. |
| 2013 | Tawana, K., Renneville, A., Wang, J., Georgiades, P., Thomas, X., Mialou, V., . . . Fitzgibbon, J. (2013). Familial AML With Germline <i>CEBPA</i> Mutations: Extended Clinical Outcomes and Analysis Of Secondary Mutations Using Whole Exome Sequencing. In BLOOD Vol. 122 (pp. 2 pages). LA, New Orleans: AMER SOC HEMATOLOGY. DOI |
| 2011 | Parker, W. T., Ho, M., Scott, H. S., Hughes, T. P., & Branford, S. (2011). Multiple Low Level Mutations Identifies Imatinib Resistant CML Patients At Risk of Poor Response to Second-Line Inhibitor Therapy, Irrespective of the Resistance Profile of the Mutations. In BLOOD Vol. 118 (pp. 54). San Diego, CA: AMER SOC HEMATOLOGY. WoS1 |
| 2011 | Rao, N., Butcher, C., Neufing, P., Bray, S., Hahn, C., Scott, H., . . . D'Andrea, R. (2011). Mechanisms of Co-operation of DNMT3A Mutations with JAK2 V617F Through Histone H4 Arginine 3 Provides New Insights in MPN Disease Pathogenesis. In 53rd ASH Annual Meeting and Exposition Vol. 118 (pp. 1). Washington DC: AMER SOC HEMATOLOGY. WoS1 |
| 2010 | Parker, W., Ho, M., Lawrence, R., Irwin, D., Scott, H., Hughes, T., & Branford, S. (2010). Detection of low level nilotinib or dasatinib resistant BCR-ABL mutations by mass spectrometry in CML patients who fail Imatinib is highly predivtive of their subsequent clonal expansion when treated with the drug for which their mutation confers resistance. In Proceedings of 2010 american society of hematology meeting Vol. 116 (pp. 0 pages). Florida, USA: AMER SOC HEMATOLOGY. |
| 2010 | Ahlgren, K., Moretti, S., Lundgren, B., Karlsson, I., Ahlin, E., Norling, A., . . . Lobell, A. (2010). Increased IL-17 A secretion in response to candida albicans in APS1 and its animal model. In Proceedings of 40th annual scientific meeting of the Australasian Society for Immunology (pp. 0 pages). |
| 2010 | Laan, M., Kisand, K., Kont, V., Moll, K., Tserel, L., Scott, H. S., & Peterson, P. (2010). Aire Deficiency Results in Decreased Expression of CCR4 and CCR7 Ligands and in Delayed Migration of CD4 <SUP>+</SUP> Thymocytes. In SCANDINAVIAN JOURNAL OF IMMUNOLOGY Vol. 71 (pp. 475). Tallinn, ESTONIA: WILEY-BLACKWELL. |
| 2010 | Drini, M., Wong, N. C., Scott, H. S., Craig, J. M., Dobrovic, A., Hewitt, C. A., . . . Macrae, F. A. (2010). The Role of Genetic and Epigenetic Variation of DNA Methyltransferases in Hyperplastic Polyposis Syndrome. In GASTROENTEROLOGY Vol. 138 (pp. S563). W B SAUNDERS CO-ELSEVIER INC. |
| 2010 | Kont, V., Murumagi, A., Kinkel, S., Kisand, K., Tserel, L., Kyewski, B., . . . Peterson, P. (2010). CpG Methylation and Histone Modifications on AIRE Promoter. In SCANDINAVIAN JOURNAL OF IMMUNOLOGY Vol. 71 (pp. 485). Tallinn, ESTONIA: WILEY-BLACKWELL PUBLISHING, INC. |
| 2009 | Davenport, M. P., Valkenburg, S., Guillonneau, C., Hubert, F. -X., Cukalac, T., Curtis, J. M., . . . Kedzierska, K. (2009). The absence of Aire does not alter the CD8 T cell repertoire to infection. In JOURNAL OF IMMUNOLOGY Vol. 182 (pp. 1 page). AMER ASSOC IMMUNOLOGISTS. |
| 2009 | Irla, M., Hugues, S., Gill, J., Nitta, T., Hikosaka, Y., Williams, I. R., . . . Reith, W. (2009). Autoantigen-specific interactions with CD4+thymocytes control mature medullary thymic epithelial cell cellularity. In SWISS MEDICAL WEEKLY Vol. 139 (pp. 16S). E M H SWISS MEDICAL PUBLISHERS LTD. |
| 2008 | Marrella, V., Casati, A., Poliani, P. L., Cassani, B., Notarangelo, L. D., Facchetti, F., . . . Grassi, F. (2008). Impact of thymic epithelium on immunopathology in lymphopenic mice reconstituted with hypomorphic Rag2 haemopoietic progenitors. In CLINICAL AND EXPERIMENTAL IMMUNOLOGY Vol. 154 (pp. 6-7). Hertogenbosch, NETHERLANDS: WILEY-BLACKWELL PUBLISHING, INC. WoS1 |
| 2008 | Zamudio, N., Chong, S., Scott, H., Whitelaw, E., & O'Bryan, M. (2008). Dnmt3L haploinsufficiency results in meiotic instability and embryo loss. In JOURNAL OF ANDROLOGY (pp. 33). Albuquerque, NM: AMER SOC ANDROLOGY, INC. |
| 2007 | Patton, W. N., Suthers, G., Altree, M., Carnnichael, C., Wilkins, E., Carroll, J., . . . Scott, H. (2007). Novel heritable mutation of the transcription factor RUNX1 as a cause of autosomal dominant familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML). In BLOOD Vol. 110 (pp. 128B-129B). Atlanta, GA: AMER SOC HEMATOLOGY. DOI |
| 2005 | Brodnicki, T. C., Fletcher, A. L., Pellicci, D. G., Berzins, S. P., McClive, P., Quirk, F., . . . Morahan, G. (2005). A non-diabetes-prone mouse strain harbours resistance and susceptibility alleles for different type 1 diabetes loci. In TISSUE ANTIGENS Vol. 66 (pp. 366-367). Melbourne, AUSTRALIA: BLACKWELL PUBLISHING. |
| 2002 | Guipponi, M., Vuagniaux, G., Wattenhofer, M., Shibuya, K., Vasquez, M., Dougherty, L., . . . Rossier, B. C. (2002). Mutations of TMPRSS3, the transmembrane serine protease causing deafness DFNB8/10 fail to activate the amiloride-sensitive epithelial sodium channel (ENaC) in vitro. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 10 (pp. 291). STRASBOURG, FRANCE: NATURE PUBLISHING GROUP. |
| 2001 | Chrast, R., Scott, H. S., Madani, R., Huber, L., Wolfer, D. P., Prinz, M., . . . Antonarakis, S. E. (2001). Mice trisomic for a BAC with the single minded 2 gene (Sim2) show some of the phenotypes of the partial trisomy 16 mouse models of Down syndrome. In CYTOGENETICS AND CELL GENETICS Vol. 92 (pp. 7). KARGER. |
| 2001 | Guipponi, M., Brunschwig, K., Chamoun, Z., Kudoh, J., Scott, H. S., Al Samadi, S., . . . Antonarakis, S. E. (2001). C21orf5, a novel human chromosome 21 gene has a <i>C-elegans</i> ortholog (<i>Pad1</i>) required for embryonic patterning. In CYTOGENETICS AND CELL GENETICS Vol. 92 (pp. 12). KARGER. |
| 2001 | Shimizu, N., Shibuya, K., Kawasaki, K., Shintani, A., Sasaki, T., Scott, H. S., . . . Kudoh, J. (2001). Genomic sequencing and systematic gene identification on human chromosome 21. In CYTOGENETICS AND CELL GENETICS Vol. 92 (pp. 20). KARGER. |
| 2001 | Deustch, S., Iseli, C., Bucher, P., Antonarakis, S. E., & Scott, H. S. (2001). A chromosome 21 cSNP map and database. In CYTOGENETICS AND CELL GENETICS Vol. 92 (pp. 9). KARGER. |
| 2001 | Michaud, J., Wattenhofer, M., Menzel, O., Bartoloni, L., Guipponi, M., Rossier, C., . . . Antonarakis, S. E. (2001). Contribution to the development of the HC21 transcription map: Characterization of five novel genes. In CYTOGENETICS AND CELL GENETICS Vol. 92 (pp. 15-16). KARGER. |
| 2001 | Scott, H. S., Wattenhofer, M., Shibuya, K., Berry, A., Kudoh, J., Chrast, R., . . . Antonarakis, S. E. (2001). A novel mechanism, insertion of α-satellite repeats, identifies the (transmembrane protease) TMPRSS3 gene as responsible for both congenital (DFNB10) and childhood onset (DFNB8) autosomal recessive deafness. In CYTOGENETICS AND CELL GENETICS Vol. 92 (pp. 20). KARGER. |
| 2001 | Chrast, R., Scott, H. S., Papasavvas, M. P., Rossier, C., Antonarakis, E. S., Barras, C., . . . Antonarakis, S. E. (2001). The mouse brain transcriptome by Serial Analysis of Gene Expression (SAGE): Differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals and between males and females. In CYTOGENETICS AND CELL GENETICS Vol. 92 (pp. 6-7). KARGER. |
| 2001 | Escher, R., Hagos, F., Sveen, E., Dougherty, L., Michaud, J., Horwitz, M., . . . Scott, H. S. (2001). Autosomal dominant familial acute myelogenous leukemia susceptibility:: Exclusion of CBFβ on chromosome 16q22.. In BLOOD Vol. 98 (pp. 166B). AMER SOC HEMATOLOGY. |
| 2001 | Guipponi, M., Shibuya, K., Vasquez, M., Dougherty, L., Scamuffa, N., Guida, E., . . . Antonarakis, S. E. (2001). Isolation, expression, and subcellular localization of the mouse Tmprss3.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 69 (pp. 368). UNIV CHICAGO PRESS. |
| 2001 | Antonarakis, S. E., Lyle, R., Chrast, R., & Scott, H. S. (2001). Differential gene expression studies to explore the molecular pathophysiology of Down syndrome. In Brain Research Reviews Vol. 36 (pp. 265-274). WARTH, SWITZERLAND: ELSEVIER SCIENCE BV. DOI Scopus37 WoS33 Europe PMC27 |
| 2001 | Michaud, J., Benson, K. F., Raskind, W. H., Rossier, C., Antonarakis, S. E., Horwitz, M., & Scott, H. S. (2001). Mutations in the RUNX1/CBFA2/AML1 gene in dominant familiar platelet disorder with predisposition to acute myelogenous leukaemia (FPD-AML). In CYTOGENETICS AND CELL GENETICS Vol. 92 (pp. 16). KARGER. |
| 2001 | Wattenhofer, M., Alwan, S., Rossier, C., Rabionet, R., Montserrat-Sentis, B., Arbones, M. L., . . . Antonarakis, S. E. (2001). Mutations in the TMPRSS3 gene are a rare cause of childhood non-syndromic deafness in Caucasian patients.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 69 (pp. 589). UNIV CHICAGO PRESS. |
| 2001 | Menzel, O., Aftimos, S., Kosztolanyi, G., Gehrig, C., Rossier, C., Antonarakis, S. E., . . . Guipponi, M. (2001). Locus heterogeneity in Knobloch syndrome. In CYTOGENETICS AND CELL GENETICS Vol. 92 (pp. 15). KARGER. |
| 2001 | Lyle, R., Chrast, R., Gehrig, C., Chanson, P., Hendrich, C., Scott, H., & Antonarakis, S. (2001). Molecular dissection of the contribution of single genes to changes in global gene expression in Down syndrome.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 69 (pp. 449). UNIV CHICAGO PRESS. |
| 2000 | Wattenhofer, M., Kudoh, J., Shibuya, K., Minoshima, S., Shimizu, N., Berry, A., . . . Scott, H. S. (2000). Isolation and characterization of a novel gene encoding a with UBA and SH3 domains on human chromosome 21q22.3: its exclusion for the autosomal recessive deafness locus, DFNB10.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 67 (pp. 185). UNIV CHICAGO PRESS. |
| 2000 | Chrast, R., Scott, H. S., Madani, R., Huber, L., Wolfer, D. P., Prinz, M., . . . Antonarakis, S. E. (2000). Mice trisomic for a BAC with the single minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 67 (pp. 178). UNIV CHICAGO PRESS. |
| 2000 | Menzel, O., Aftimos, S., Gehrig, C., Antonarakis, S. E., Scott, H. S., & Guipponi, M. (2000). Locus heterogeneity in Knobloch syndrome.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 67 (pp. 311). UNIV CHICAGO PRESS. |
| 2000 | Michaud, J., Benson, K. F., Raskind, W. H., Rossier, C., Antonarakis, S. E., Horwitz, M., & Scott, H. S. (2000). Mutations in the RUNX1/CBFA2/AML1 gene in dominant familial platelet disorder with predisposition to acute myelogenous leukaemia (FPD-AML).. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 67 (pp. 84). UNIV CHICAGO PRESS. |
| 2000 | Deustch, S., Iseli, C., Bucher, P., Antonarakis, S. E., & Scott, H. S. (2000). A chromosome 21 cSNP map and database.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 67 (pp. 272). UNIV CHICAGO PRESS. |
| 2000 | Scott, H. S., Wattenhofer, M., Shibuya, K., Berry, A., Kudoh, J., Guipponi, M., . . . Antonarakis, S. E. (2000). A novel mutation mechanism, insertion of β-satellite repeats, in a transmembrane protease gene causes the autosomal recessive deafness DFNB10.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 67 (pp. 13). UNIV CHICAGO PRESS. WoS1 |
| 2000 | Kudoh, J., Shibuya, K., Scott, H. S., Nagamine, K., Kawasaki, K., Shintani, A., . . . Shimizu, N. (2000). Systematic gene identification based on the genomic sequence of human chromosome 21.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 67 (pp. 265). UNIV CHICAGO PRESS. |
| 1999 | Scott, H. S., Berry, A., Korostishevsky, M., Talior, I., Barras, C., Gehrig, C., . . . Antonarakis, S. E. (1999). The autosomal recessive non-syndromic deafness loci, DFNB8 and DFNB10 on human chromosome 21q22.3, are distinct loci. In CYTOGENETICS AND CELL GENETICS Vol. 86 (pp. 19). KARGER. |
| 1999 | Scott, H. S., Berry, A., Korostishevsky, M., Talior, I., Barras, C., Gehrig, C., . . . Antonarakis, S. E. (1999). The autosomal recessive non-syndromic deafness loci, DFNB8 and DFNB10 on human chromosome 21q22.3, are distinct loci.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 65 (pp. A445). UNIV CHICAGO PRESS. |
| 1999 | Lalioti, M. D., Scott, H. S., & Antonarakis, S. E. (1999). The dodecamer repeat expansion in EPM1 reduces transcription of the cystatin B gene by altering spacing between promoter elements. In CYTOGENETICS AND CELL GENETICS Vol. 86 (pp. 9). KARGER. |
| 1999 | Scott, H. S., Papasavvas, M. P., Rossier, C., Michaud, J., Chrast, R., Velculescu, V. E., . . . Antonarakis, S. E. (1999). A global comparison of gene expression patterns between Down syndrome and normal cells by Serial Analysis of Gene Expression (SAGE). In CYTOGENETICS AND CELL GENETICS Vol. 86 (pp. 10). KARGER. |
| 1999 | Bartoloni, L., Maiti, A., Blouin, J. L., Rossier, C., Meeks, M., Gehrig, C., . . . Antonarakis, S. E. (1999). Heavy chain dynein DNAH9: cDNA sequence, genomic structure and exclusion as the gene responsible for one form of Primary Ciliary Dyskinesia.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 65 (pp. A182). CELL PRESS. |
| 1999 | Chrast, R., Scott, H. S., & Antonarakis, S. E. (1999). Development of transgenic mice overexpressing mSIM2 gene in the correct spatial manner. In CYTOGENETICS AND CELL GENETICS Vol. 86 (pp. 12). KARGER. |
| 1999 | Scott, H. S., & Antonarakis, S. E. (1999). The "genomics" of chromosome 21 and Down syndrome. In G. Schumacher, & U. Sauer (Eds.), GENETICS OF CARDIOPATHIES (pp. 164-179). MUNICH, GERMANY: WISSENSCHAFTLICHE verlagsgesellschaft mbh. |
| 1999 | Mehenni, H., Gerhig, C., Nezu, J. I., Oku, A., Shimane, M., Rossier, C., . . . Antonarakis, S. E. (1999). Loss of LKB1 kinase activity in Peutz-Jeghers syndrome and evidence for allelic and locus heterogeneity.. In GASTROENTEROLOGY Vol. 116 (pp. A461). W B SAUNDERS CO-ELSEVIER INC. |
| 1999 | Michaud, J., Bartoloni, L., Guipponi, M., Wattenhofer, M., Chen, H., Lalioti, M. D., . . . Scott, H. S. (1999). Characterization of human chromosome 21q22.3 genes starting from trapped exons. In CYTOGENETICS AND CELL GENETICS Vol. 86 (pp. 18). KARGER. |
| 1999 | Chrast, R., Scott, H. S., Papasavvas, M. P., Rossier, C., Barras, C., Davisson, M. T., . . . Antonarakis, S. E. (1999). The mouse brain transcriptome by Serial Analysis Of Gene Expression (SAGE): Differences in gene expression between P30 brains of the Ts65Dn mouse model of down syndrome and normals and between males and females.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 65 (pp. A28). UNIV CHICAGO PRESS. |
| 1999 | Michaud, J., Lalioti, M. D., Kudoh, J., Minoshima, S., Shimizu, N., Rossier, C., . . . Scott, H. S. (1999). Isolation and characterization of a new WD-repeat protein, GNB5, on human chromosome 21q22.3.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 65 (pp. A376). UNIV CHICAGO PRESS. |
| 1999 | Imhof, A., Antonarakis, S. E., & Scott, H. S. (1999). A database of human chromosome 21 SNPs: A tool for association studies to dissect the contribution of minor loci to complex diseases.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 65 (pp. A256). UNIV CHICAGO PRESS. |
| 1999 | Guipponi, M., Brunschwig, K., Chamoun, Z., Kudoh, J., Scott, H. S., Al Samadi, S., . . . Antonarakis, S. E. (1999). Identification and expression analysis of C21orf5, the ortholog of which leads to embryonic lethality in C-elegans using double-stranded RNA-mediated interference.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 65 (pp. A187). UNIV CHICAGO PRESS. |
| 1999 | Guipponi, M., Mittaz, L., Guidi, S., Chen, H., Barras, C., Sail-Duriaux, G., . . . Antonarakis, S. E. (1999). Isolation and characterization of three human chromosome 21 (HC21) genes. In CYTOGENETICS AND CELL GENETICS Vol. 86 (pp. 16-17). KARGER. |
| 1998 | Mittaz, L., Roessler, E., Scott, H. S., Rossier, C., Guipponi, M., Antonarakis, S. E., & Muenke, M. (1998). Structure of the human lanosterol synthase gene and its analysis as a candidate for holoprosencephaly. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 6 (pp. 162). STOCKTON PRESS. |
| 1998 | Guipponi, M., Scott, H. S., Chen, H. M., Schebesta, A., Rossier, C., & Antonarakis, S. E. (1998). Cloning of two human chromosome 21 genes encoding a potential phosphodiesterase and an intersectin homologue with alternative splicing in a stop codon. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 6 (pp. 152). STOCKTON PRESS. |
| 1998 | Scott, H. S., Papasavvas, M. P., Rossier, C., Michaud, J., Chrast, R., Velculescu, V. E., . . . Antonarakis, S. E. (1998). A global comparison of gene expression patterns between Down syndrome and normal cells by serial analysis of gene expression (SAGE). In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 6 (pp. 35). STOCKTON PRESS. |
| 1998 | Chrast, R., Scott, H. S., & Antonarakis, S. E. (1998). Optimised protocol for linearization and purification of BAC clones for Tg mice generation. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 6 (pp. 156). STOCKTON PRESS. |
| 1998 | Antonarakis, S. E., Nagamine, K., Peterson, P., Rosatelli, M. C., Lalioti, M. D., Mullis, P. E., . . . Scott, H. S. (1998). Identification of a potential transcription regulator mutated in autoimmune polyglandular disease 1. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 6 (pp. 34). STOCKTON PRESS. |
| 1998 | Lalioti, M. D., Scott, H. S., Genton, P., Grid, D., Ouazzani, R., M'Rabet, A., . . . Antonarakis, S. E. (1998). The expanded dodecamer repeat in Progressive myoclonus epilepsy (EPM1) is unstable, shows no correlation with age of onset, and results in reduced expression of reporter genes in vitro. In EUROPEAN JOURNAL OF HUMAN GENETICS Vol. 6 (pp. 146). STOCKTON PRESS. WoS2 |
| 1997 | Nagamine, K., Kudoh, J., Kawasaki, K., Asakawa, S., Abe, I., Minoshima, S., . . . Shimizu, N. (1997). Exon trapping, cDNA cloning, and genomic sequencing of the APECED region of chromosome 21q22.3.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 61 (pp. A287). CELL PRESS. |
| 1997 | Chrast, R., Scott, H. S., & Antonarakis, S. E. (1997). Linearization and purification of BAC clones for Tg mice generation.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 61 (pp. A168). CELL PRESS. |
| 1997 | Guidi, S., Blouin, J. L., Sail, G. D., Rossier, C., Antonarakis, S. E., & Scott, H. S. (1997). Isolation and characterization of a novel human chromosome 21q22 gene (C21ORF1), and its mouse and chicken homologues.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 61 (pp. A173). CELL PRESS. |
| 1997 | Lalioti, M. D., Scott, H. S., Buresi, C., Rossier, C., Bottani, A., Morris, M. A., . . . Antonarakis, S. E. (1997). Dodecamer repeat expansion in the cystatin B gene in progressive myoclonus epilepsy (EPM1).. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 61 (pp. A51). CELL PRESS. |
| 1997 | Scott, H. S., Papasavvas, M. P., Velculescu, V. E., Toth, Z., Dahoun, S., Rossier, C., & Antonarakis, S. E. (1997). A global comparison of gene expression patterns between Down syndrome and normal cells by serial analysis of gene expression.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 61 (pp. A40). CELL PRESS. |
| 1997 | Blouin, J. L., Chen, H. M., Saïl, G. D., Rossier, C., Scott, H. S., Antonarakis, S. E., . . . McCormick, M. K. (1997). Construction of a dense exon map (1 in every 14 kb) of the CBR to ERG ∼2.5-Mb region of chromosome 21. In CYTOGENETICS AND CELL GENETICS Vol. 79 (pp. 40). KARGER. |
| 1997 | Mittaz, L., Scott, H. S., Nizetic, D., & Antonarakis, S. E. (1997). Editing of glutamate receptor pre-mRNAs in trisomy 21 fetal brain; evidence for in vivo substrates of hRED1 and implications for the Down syndrome phenotypes.. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 61 (pp. A315). CELL PRESS. |
| 1997 | Antonarakis, S. E., Chen, H. M., Lalioti, M. D., Scott, H. S., Chrast, R., Blouin, J. L., . . . Rossier, C. (1997). Progress toward the transcription map of human chromosome 21 and initial characterization of several of its genes. In CYTOGENETICS AND CELL GENETICS Vol. 77 (pp. 12). KARGER. |
| 1993 | WHITLEY, C. B., KRIVIT, W., RAMSAY, N. K. C., KERSEY, J. H., CHANG, P. N., LATCHAW, R. E., . . . HOPWOOD, J. J. (1993). MUTATION ANALYSIS AND CLINICAL OUTCOME OF PATIENTS WITH HURLER-SYNDROME (MUCOPOLYSACCHARIDOSIS TYPE I-H) UNDERGOING BONE-MARROW TRANSPLANTATION. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 53 (pp. 101). UNIV CHICAGO PRESS. WoS5 |
| 1991 | HOPWOOD, J. J., MORRIS, C. P., SCOTT, H. S., & WILSON, P. J. (1991). MOLECULAR-GENETICS OF HURLER AND HUNTER SYNDROMES. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 49 (pp. 58). UNIV CHICAGO PRESS. WoS2 |
| 1991 | SCOTT, H. S., HOPWOOD, J. J., & MORRIS, C. P. (1991). STRUCTURE AND MAPPING OF THE ALPHA-L-IDURONIDASE GENE. In AMERICAN JOURNAL OF HUMAN GENETICS Vol. 49 (pp. 414). UNIV CHICAGO PRESS. |
| 1990 | BRANDTZAEG, P., BJERKE, K., HALSTENSEN, T. S., HVATUM, M., KETT, K., KRAICI, P., . . . VALNES, K. (1990). LOCAL IMMUNITY - THE HUMAN MUCOSA IN HEALTH AND DISEASE. In T. T. MACDONALD, R. V. HEATLEY, S. J. CHALLACOMBE, A. M. MOWAT, P. W. BLAND, & C. R. STOKES (Eds.), ADVANCES IN MUCOSAL IMMUNOLOGY (pp. 1-12). LONDON, ENGLAND: KLUWER ACADEMIC PUBL. WoS1 |
| Year | Citation |
|---|---|
| 2024 | Thuong, H., Byrne, A., Arts, P., Kassahn, K., Pais, L., O'Donnell-Luria, A., . . . Barnett, C. P. (2024). The Australian national genomic autopsy study: a summary of results, outcomes and instructive families from 406 trios/quads. Poster session presented at the meeting of Abstracts of the 57th European Society of Human Genetics (ESHG, 2024) Conference as published in European Journal of Human Genetics. Berlin, Germany: Springer Nature. |
| 2024 | Schubert, C., Jackson, M., Barnett, C., Scott, H., Goodall, S., & Merlin, T. (2024). Exome or genome sequencing for perinatal autopsy: A 'before and after' change-in-management study. Poster session presented at the meeting of Human Genetics Society of Australasia (HGSA) Annual Meeting. Gold Coast, Queensland, Australia. |
| 2022 | Wu, D., Drogemuller, C., Couper, R., Torpy, D., Scott, H., Palmer, L., . . . Coates, P. T. (2022). The Genetic Epidemiology of Hereditary Pancreatitis in Australia and Its Effect on Patients of Total Pancreatectomy and Islet Auto Translation (TP-IAT). Poster session presented at the meeting of TRANSPLANTATION. ELECTR NETWORK: LIPPINCOTT WILLIAMS & WILKINS. |
| 2022 | Batkovskyte, D., McKenzie, F., Taylan, F., Simsek-Kiper, P. O., Nikkel, S. M., Ohashi, H., . . . Grigelioniene, G. (2022). Al-Gazali skeletal dysplasia constitutes the lethal end of <i>ADAMTSL2</i>-related disorders. Poster session presented at the meeting of EUROPEAN JOURNAL OF HUMAN GENETICS. SPRINGERNATURE. |
| 2022 | Saygin, C., Roloff, G. W., Hahn, C. N., Chhetri, R., Gill, S., Elmariah, H., . . . Godley, L. A. (2022). Allogeneic Hematopoietic Stem Cell Transplant Outcomes in Adults with Inherited Myeloid Malignancies. Poster session presented at the meeting of BLOOD. LA, New Orleans: AMER SOC HEMATOLOGY. DOI |
| 2022 | Brown, A. L., Homan, C., Drazer, M. W., Yu, K., Lawrence, D., Feng, J., . . . Godley, L. A. (2022). Somatic Mutational Landscape of Hereditary Hematopoietic Malignancies Associated with Germline Variants in <i>RUNX1</i>, <i>GATA2</i> and <i>DDX41</i>. Poster session presented at the meeting of BLOOD. US: AMER SOC HEMATOLOGY. DOI WoS5 |
| 2018 | Singhal, D., Wee, A., Kutyna, M. M., Babic, M., Chhetri, R., Parker, W., . . . Hiwase, D. K. (2018). Therapy-Related Myeloid Neoplasms (T-MN) and Primary MDS (PMDS) Patients with Very Low (VL) or Low (L) IPSS-R Score Share Clinical and Biological Characteristics and Have Similar Outcome. Poster session presented at the meeting of BLOOD. CA, San Diego: AMER SOC HEMATOLOGY. DOI |
| 2017 | de Sousa, S. M. C., Stowasser, M., Feng, J., Schreiber, A. W., Hahn, C. N., Torpy, D. J., . . . Scott, H. S. (2017). Sequence variants in ARMC5 are not implicated in familial hyperaldosteronism type II. Poster session presented at the meeting of Clinical endocrinology. UK: Wiley-Blackwell Publishing. |
| 2017 | Oftedal, B. E., Lundgren, B. A., Bratland, E., Wolff, A. B., Hamm, D., Gan, P. -Y., . . . Scott, H. S. (2017). T cell receptor assessment in autoimmune disease requires access to the most adjacent immunologically active organ. Poster session presented at the meeting of SCANDINAVIAN JOURNAL OF IMMUNOLOGY. Stockholm, SWEDEN: WILEY. |
| 2017 | Singhal, D., Wee, L. A., Babic, M., Parker, W., Moore, S., Feng, J., . . . Hiwase, D. (2017). THERAPY RELATED MYELOID NEOPLASMS (T-MN) SHOW HIGH MUTATION FREQUENCY AND A SPECTRUM DIFFERENT FROM PRIMARY MDS. Poster session presented at the meeting of LEUKEMIA RESEARCH. Valencia, SPAIN: PERGAMON-ELSEVIER SCIENCE LTD. DOI |
| 2014 | Tan, K. -L., Lee, H. C., Ling, K. -H., Hewitt, C. A., Scott, H. S., Lai, M. I., . . . Cheah, P. S. (2014). Overexpressed interferon alpha or beta receptors in the brain of adult Ts1Cje mouse model of Down syndrome. Poster session presented at the meeting of JOURNAL OF NEUROCHEMISTRY. Kaohsiung, TAIWAN: WILEY-BLACKWELL. |
| 2014 | Parker, W. T., Phillis, S. R., Yeung, D. T., Lawrence, D., Schreiber, A., Wang, P., . . . Branford, S. (2014). Detection of BCR-ABL1 Compound and Polyclonal Mutants in Chronic Myeloid Leukemia Patients Using a Novel Next Generation Sequencing Approach That Minimises PCR and Sequencing Errors. Poster session presented at the meeting of BLOOD. San Francisco, CA: AMER SOC HEMATOLOGY. DOI WoS4 |
| 2014 | Casolari, D. A., Iarossi, D. G., Butcher, C. M., Bray, S. C., Parker, W. T., Hahn, C. N., . . . D'Andrea, R. J. (2014). Aberrant activation of epidermal growth factor receptor in MPN may respond to the kinase inhibitor gefitinib. Poster session presented at the meeting of Blood. US: American Society of Hematology. |
| 2013 | Parker, W., Phillis, S., Yeung, D., Hughes, T., Scott, H., & Branford, S. (2013). PCR-mediated recombination can lead to artificial chimera formation, which may pose as BCR-ABL1 compound mutations. Poster session presented at the meeting of Oral Sessions from the 55th ASH Annual Meeting and Exhibition, as published in Blood. New Orleans, Louisiana: American Society of Hematology. |
| 2012 | Gan, P. Y., Tan, D. S., Hammett, M. V., Chidgey, A. P., Boyd, R. L., Scott, H. S., . . . Holdsworth, S. R. (2012). AIRE IN THE MAINTENANCE OF CENTRAL TOLERANCE TO MPO AND THE DEVELOPMENT OF AUTOIMMUNE ANTI- MPO GLOMERULONEPHRITIS. Poster session presented at the meeting of NEPHROLOGY. WILEY-BLACKWELL. |
| 2012 | Parker, W. T., Yeoman, A. L., Jamison, B. A., Yeung, D. T., Scott, H. S., Hughes, T. P., & Branford, S. (2012). The patient's BCR-ABL1 Kinase Domain Mutation History Is Important for Decisions Regarding Tyrosine Kinase Inhibitor Therapy. Poster session presented at the meeting of BLOOD. Atlanta, GA: AMER SOC HEMATOLOGY. DOI |
| 2011 | Davies, M. J., Moore, V. M., Willson, K., Van Essen, P., Scott, H., Priest, K., . . . Chan, A. (2011). The evanishing twini phenomenon explains the excess risk of congenital malformation in multiple pregnancy after infertility treatment. Poster session presented at the meeting of HUMAN REPRODUCTION. Stockholm, SWEDEN: OXFORD UNIV PRESS. |
| Year | Citation |
|---|---|
| 2024 | Weisburd, B., Sharma, R., Pata, V., Reimand, T., Ganesh, V. S., Austin-Tse, C., . . . O'Donnell-Luria, A. (2024). Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets.. DOI |
| 2024 | Arthurs, A., Jackson, M., McCullough, D., Scott, H., Barnett, C., Webb, S., . . . Roberts, C. (2024). Circular RNAs accumulate in ageing human placental tissue and in stillbirth, leading to DNA damage and cellular senescence. DOI |
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The missing heritability of rare diseases: discovery to implementation, Medical Research Future Fund, 01/01/2023 - 31/12/2027
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Germline mutations in familial haematopoietic malignancies identifies new pan-cancer predisposition genes and may alter clinical decision making, including for known cancer genes, NHMRC - Project Grant, 01/01/2019 - 31/12/2022
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Program 2: A national data repository: scalable, shared and standardised (Genomic and clinical data linkage). CRE: Preparing Australia for Genomic Medicine: A proposal by the Australian Genomics Heal, NHMRC Targeted Call for Research into Preparing Australia for the Genomics Revolution in Health Care, 21/08/2018 - 30/06/2021
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Preparing Australia for Genomic Medicine: A proposal by the Australian Genomics Health Alliance. Program 1 A national diagnostic and translational research network, + Flagships/Units., NHMRC Targeted Call for Research into Preparing Australia for the Genomics Revolution in Health Care, 01/01/2016 - 30/06/2021
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Defining the role of a novel transcriptional enhancer element in regulation of Prox1 expression and endothelial cell identity., NHMRC - Project Grant, 01/01/2018 - 31/12/2020
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Germline and Somatic Genetic Variation in Cancer, Cancer Council SA - Beat Cancer Fellowship, 01/01/2018 - 31/12/2020
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Genetic autopsy of perinatal death: diagnosis and discovery by genome sequencing, NHMRC - Project Grant, 01/01/2017 - 31/12/2020
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Mab immunotherapies for myeloid leukemia patients with germline or somatic RUNX1 mutations., NHMRC - Project Grant, 01/01/2018 - 31/12/2020
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Biological characterisation and therapeutic options for high risk, DDX41 mutated, haematological malignancies, Cancer Council SA - Beat Cancer, 01/01/2018 - 31/12/2018
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Cancer Discovery Accelerator, Australian Cancer Research Foundation, 01/06/2016 - 31/07/2018
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Using familial haematological malignancies and germline variants to identify new haematopoietic and pancancer genes, Cancer Council SA - Beat Cancer, 01/01/2017 - 31/12/2017
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Co-operation between GATA2 mutation or expression and RAS signalling in AML, NHMRC - Project Grant, 01/01/2015 - 31/12/2017
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Using familia predisposition to Chronic Lymphocytic Leukaemia to follow disease progression, NHMRC - Research Fellowship, 01/01/2014 - 31/12/2017
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Cancer Discovery Accelerator, Cancer Council SA - Beat Cancer, 08/06/2016 - 08/06/2017
| Date | Role | Research Topic | Program | Degree Type | Student Load | Student Name |
|---|---|---|---|---|---|---|
| 2026 | Co-Supervisor | Genetic Architecture of Lipoedema: Rare-Variant Mapping across Lymphatic Development, Connective-Tissue Biology, and Adipose Distribution | - | Master | Full Time | Mrs Selin Cildir |
| 2023 | Principal Supervisor | Multiplex assay of variant effect (MAVE) to measure functional effects following saturation mutagenesis of GATA2 and RUNX1. | Doctor of Philosophy | Doctorate | Full Time | Mr Wen Teng |
| 2023 | Principal Supervisor | Multiplex assay of variant effect (MAVE) to measure functional effects following saturation mutagenesis of GATA2 and RUNX1. | Doctor of Philosophy | Doctorate | Full Time | Mr Wen Teng |
| 2023 | Co-Supervisor | 109455 - Examining the impact of environmental stressors and mutant microenvironment on disease development in models of inherited predisposition to haematological malignancies | Doctor of Philosophy | Doctorate | Full Time | Mr An Thanh Dung Nguyen |
| 2022 | Co-Supervisor | Understanding how lymphatic vessel identity is programmed during development and disease | - | Doctorate | Full Time | Mr Ivan Ngui |
| Date | Role | Research Topic | Program | Degree Type | Student Load | Student Name |
|---|---|---|---|---|---|---|
| 2022 - 2025 | Principal Supervisor | Germline ERG Haploinsufficiency in Predisposition to Disease | Doctor of Philosophy | Doctorate | Full Time | Miss Jiarna Zerella |
| 2020 - 2023 | Principal Supervisor | Defining The Role of a Novel Gene “MyoD Family Inhibitor Domain Containing (MDFIC)” Important in Cardiovascular Development | Doctor of Philosophy | Doctorate | Full Time | Ms Saba Montazaribarforoushi |
| 2016 - 2020 | Co-Supervisor | Clinical and Genetic Aspects of Prolactin Hypersecretion | Doctor of Philosophy | Doctorate | Full Time | APrf Sunita Maria Christina De Sousa |
| 2012 - 2016 | Principal Supervisor | Identification and Characterisation of Genetic Lesions that Predispose to and Gene Expression Patterns that Contribute to Myeloid Malignancies | Doctor of Philosophy | Doctorate | Full Time | Ms Parvathy Venugopal |
| 2012 - 2016 | Co-Supervisor | Prognostic Markers Associated With Tyrosine Kinase Inhibitor Treatment Response and Maintenance of Treatment Free Remission in Chronic Myeloid Leukaemia | Doctor of Philosophy | Doctorate | Full Time | Prof David Yeung |
| 2010 - 2014 | External Supervisor | Identification and Annotation of Recombinant Repeats In Mammals Indicates They Are Experimental Products For Creating Novel Transposable Element Families | Doctor of Philosophy | Doctorate | Full Time | Mr Sim Lin Lim |
| 2009 - 2011 | Co-Supervisor | Regulation of Cortisol Secretion in Humans; Relation to Vasopressin Action at the Adrenals in Macronodular and Micronodular Adrenocortical Tumours and Well-Being in Addison's Disease | Doctor of Philosophy | Doctorate | Full Time | Dr Lucia Gagliardi |
| 2009 - 2013 | Principal Supervisor | Genetics and Functional Characterization of GATA2, a Novel Cancer Gene in Familial Leukaemia | Doctor of Philosophy | Doctorate | Full Time | Mr Chan Eng Chong |
| 2008 - 2011 | Principal Supervisor | Identification and Characterisation of Novel Transcripts Involved in the Proliferation, Differentiation and Development Networks of the Mouse Cerebral Cortex | Doctor of Philosophy | Doctorate | Full Time | Mr King Hwa Ling |
