Professor Hamish Scott

Adjunct Professor Centre for Cancer Biology

City West Campus (HB8-32)
tel +61 8 830 27678

email Hamish.Scott@unisa.edu.au

About me

Centre for Cancer Biology

Making breakthrough discoveries in the fundamental causes of cancer, and translating these into prevention and treatment.

Other UniSA associations

Centre for Cancer Biology

Tweets by @UniversitySA

About me

In the media

Date	Title
09/03/2016	BLOOD CANCER GENE DISCOVERY, https://news.cancerresearch/blood-cancer-gene-discovery/
03/03/2016	World-first SA research discovers genetic link to certain types of blood cancers, http://www.adelaidenow.com.au/lifestyle/health/worldfirst-sa-research-discovers-genetic-link-to-certain-types-of-blood-cancers/news-story/986eb97c612c2d0c9ee2c0b3d1177a14
02/03/2016	Family Blood Cancer Gene Identified, http://www.unisa.edu.au/Media-Centre/Releases/Family-blood-cancer-gene-identified/#.WKzv1tIrJpg
07/10/2015	Top health researchers become AAHMS Fellows, http://www.unisa.edu.au/Media-Centre/Releases/Top-health-researchers-become-AAHMS-Fellows/#.WKzyrtIrJpg
01/05/2014	Australia is the melanoma capital of the world, http://www.hansoninstitute.sa.gov.au/melanoma/
06/09/2011	Prof Hamish Scott talks to 891 ABC about the gene discovery, http://www.abc.net.au/news/2011-09-06/prof-hamish-scott-talks-to-891-abc-about-the-gene/2873350

About me

Experience

Work history

Professor Hamish Scott did his PhD (1992) and first post-doc at the Women’s and Children’s Hospital and the University of Adelaide. During these 7 years he led the discovery of genes for 3 rare human diseases. After 11 more years, with the persistence of Professor John Hopwood and others in academia and industry, this resulted in either FDA approved therapy (2003) or clinical trials of novel therapies for these diseases.

In 1995, Hamish moved to the University of Geneva Medical School in Switzerland. His focus was, and remains, the application of genetic and genomic technologies to understand diseases processes to improve diagnoses and treatment. He led international collaborations in identification of human genes causing Down syndrome and rare forms of genetic deafness and autoimmunity (e.g. arthritis and multiple sclerosis). This continues to have profound effects on our understanding of basic biology of Down syndrome, hearing and the immune system and lead to new therapeutic strategies in these and related diseases. This was also the start of his interest in cancer and leukemia as children with Down syndrome have a low incidence of solid tumours and a high incidence of leukemia. This is also when he started to work on familial predisposition to leukemia.

Hamish relocated to the Walter and Eliza Hall Institute of Medical Research (WEHI) in Melbourne in 2000 as the Inaugural Nossal Leadership Fellow. He was appointed as a National Health and Medical Research Council (NHMRC) senior research fellow in 2001. His laboratory identified 2 additional deafness genes and described the role of a gene in reprogramming the DNA of an “adult” cell from “normal” to become a gamete (sperm or oocyte). He also described a cause of familial predisposition to leukemia.

Since returning to Adelaide in January 2008 he has been Deputy and then Head of the Department of Molecular Pathology at SA Pathology, He is an inaugural member of the Centre for Cancer Biology an Affiliate Professor in both the Schools of Medicine and Molecular and Biomedical Science at the University of Adelaide and an Adjunct Professor in the School of Pharmacy and Medical Sciences in the Division of Health Sciences of the University of South Australia. He is an NHMRC principal research fellow, a Founding Fellow of the Faculty of Science (FFSc) of the Royal College of Pathologists of Australasia (RCPA) and a Fellow of the Australian Academy of Health and Medical Sciences (FAHMS). He recently led the identification of mutations in a gene in rare families and patients that predisposed them to acute myeloid leukemia (AML), infectious diseases and lymphoedema. He has helped develop and introduce new technologies and tests for improved treatment (personalized medicine), in particular CML, and is a Joint Director of the ACRF Cancer Genome Facility established at SA Pathology.

He has led recent international collaborations published in Nat Genet and Blood (x2) on identification of germline mutations in rare families and patients that predispose them to acute myeloid leukemia (AML), infectious diseases, lymphoedema (in GATA2 Embergers syndrome and familial MDS/AML) and diverse hematologic malignancies (in DDX41). This has lead international recognition of the fact that there can be a substantive, sometimes monogenic, predisoposition to haematological malignancies and response to treatments.

He is a Joint Director of the CCB ACRF Cancer Genome Facility established at SA Pathology, the Facilitator of the Genomics, Genetics and Drugable Targets pillar, of the South Australian Comprehensive Cancer Consortium, on the Executive Committee of the South Australian Cancer Research Biobank and the National Steering Committee of the newly NHMRC funded Australian Genomics Health Alliance. In these roles he has been central to introducing introduce new technologies for both somatic and germline genotyping (e.g. using next generation sequencing to SA Pathology at a panel, exome and whole genome level) for improved diagnoses and treatment (personalized medicine) for which his team won an SA Health Award for Excellence.

Research

Research focus

Clinical Sciences
Biological Sciences
Medical and Health Sciences
Neurosciences
Genetics

Highlights

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... Read more

Research

Projects

Excludes commercial-in-confidence projects.

The missing heritability of rare diseases: discovery to implementation, Medical Research Future Fund, 01/01/2023 - 31/12/2027
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
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
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
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
Germline and Somatic Genetic Variation in Cancer, Cancer Council SA - Beat Cancer Fellowship, 01/01/2018 - 31/12/2020
Genetic autopsy of perinatal death: diagnosis and discovery by genome sequencing, NHMRC - Project Grant, 01/01/2017 - 31/12/2020
Mab immunotherapies for myeloid leukemia patients with germline or somatic RUNX1 mutations., NHMRC - Project Grant, 01/01/2018 - 31/12/2020
Biological characterisation and therapeutic options for high risk, DDX41 mutated, haematological malignancies, Cancer Council SA - Beat Cancer, 01/01/2018 - 31/12/2018
Cancer Discovery Accelerator, Australian Cancer Research Foundation, 01/06/2016 - 31/07/2018
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
Co-operation between GATA2 mutation or expression and RAS signalling in AML, NHMRC - Project Grant, 01/01/2015 - 31/12/2017
Using familia predisposition to Chronic Lymphocytic Leukaemia to follow disease progression, NHMRC - Research Fellowship, 01/01/2014 - 31/12/2017
Cancer Discovery Accelerator, Cancer Council SA - Beat Cancer, 08/06/2016 - 08/06/2017
Defining the role of GATA2 in lymphatic vascular development as a means to understanding how GATA2 mutations predispose to human lymphedema., NHMRC - Project Grant, 01/01/2014 - 31/12/2016

Research

Outputs

Research outputs for the last seven years are shown below. Some long-standing staff members may have older outputs included. To see earlier years visit ORCID, ResearcherID or Scopus

Open access indicates that an output is open access.

Highlights

Year	Output
2016	Barnett, CP, Nataren, NJ, Klingler-Hoffmann, M, Schwarz, Q, Chong, C-E, Lee, YK, Bruno, DL, Lipsett, J, McPhee, AJ, Schreiber, AW, Feng, J, Hahn, CN & Scott, HS 2016, 'Ectrodactyly and lethal pulmonary acinar dysplasia associated with homozygous FGFR2 mutations identified by exome sequencing', Human Mutation, vol. 37, no. 9, pp. 955-963. Open access 28 21 1
2016	Bracken, CP, Scott, HS & Goodall, GJ 2016, 'A network-biology perspective of microRNA function and dysfunction in cancer', Nature Reviews Genetics, vol. 17, pp. 719-732. Open access 561 537 33
2016	De Sousa, SM, Kassahn, KS, McIntyre, LC, Chong, C-E, Scott, HS & Torpy, DJ 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, vol. 16, no. 1, article no. 58 pp. 1-7. Open access 7 4
2016	Ling, K-H, Brautigan, PJ, Moore, S, Fraser, R, Cheah, P-S, Raison, JM, Babic, M, Lee, YK, Daish, T, Mattiske, DM, Mann, JR, Adelson, DL, Thomas, PQ, Hahn, CN & Scott, HS 2016, 'Derivation of an endogenous small RNA from double-stranded Sox4 sense and natural antisense transcripts in the mouse brain', Genomics, vol. 107, nos. 2-3, pp. 88-99. Open access 14 12 1
2016	Ling, K-H, Brautigan, PJ, Moore, S, Fraser, R, Leong, MP-Y, Leong, J-W, Zainal, AS, Lee, H-C, Cheah, P-S, Raison, JM, Babic, M, Lee, YK, Daish, T, Mattiske, DM, Mann, JR, Adelson, DL, Thomas, PQ, Hahn, CN & Scott, HS 2016, 'In depth analysis of the Sox4 gene locus that consists of sense and natural antisense transcripts', Data in Brief, vol. 7, pp. 282-290. Open access 4 3 1

Journal Articles

Year	Output
2024	Best, S, Fehlberg, Z, Richards, C, Quinn, MC, Lunke, S, Spurdle, AB, Kassahn, KS, Patel, C, Vears, DF, Goranitis, I, Lynch, F, Robertson, A, Tudini, E, Christodoulou, J, Scott, H, McGaughran, J & 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, online, pp. 1-8. Open access 1
2024	Das, A, MacFarland, SP, Meade, J, Hansford, JR, Scott, HS & Tabori, U and 15 other authors 2024, 'Clinical updates and surveillance recommendations for DNA replication repair deficiency syndromes in children and young adults', Clinical Cancer Research, vol. 30, no. 16, pp. 3378-3387. Open access
2024	De Sousa, SM, McCormack, A, Orsmond, A, Shen, A, Yates, CJ, Clifton-Bligh, R, Santoreneos, S, King, J, Feng, J, Toubia, J, Torpy, DJ & Scott, HS 2024, 'Increased prevalence of germline pathogenic CHEK2 variants in individuals with pituitary adenomas', Journal of Clinical Endocrinology and Metabolism, online, pp. 1-9. Open access
2024	De Sousa, SM, Wu, KH, Colclough, K, Rawlings, L, Dubowsky, A, Monnik, M, Poplawski, N, Scott, HS, Horowitz, M & Torpy, DJ 2024, '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, vol. 61, no. 2, pp. 181-188. Open access
2024	Hong, LE, Wechalekar, MD, Kutyna, M, Small, A, Scott, HS, Brown, A, Hahn, CN, Robinson, N, Branford, S, D'Andrea, RJ, Samaraweera, SE, Kok, CH & Hiwase, DK and 13 other authors 2024, 'IDH-mutant myeloid neoplasms are associated with seronegative rheumatoid arthritis and innate immune activation', Blood, vol. 143, no. 18, pp. 1873-1877.
2024	Venugopal, P, Arts, P, Fox, LC, Simons, A, Ross, DM, Frank, MS, Ha, TT, Jackson, MR, Arriola-Martinez, L, Kenyon, R, Brown, AL, Hahn, CN & Scott, HS 2024, 'Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion', Blood Advances, vol. 8, no. 13, pp. 3437-3443. Open access 1
2024	Wechalekar, MD, Zhao, LP, Kutyna, MM, Hong, LE, Li, J, Hung, K, Scott, HS, Brown, A, Hahn, CC, Kassahn, K, Ladon, D, Yeung, DT, Thomas, D, Patnaik, M, Proudman, S, Ades, L, Shah, M V, Kok, CH & Hiwase, DK 2024, 'Myeloid neoplasms arising after methotrexate therapy for autoimmune rheumatological diseases do not exhibit poor-risk molecular features', Blood Cancer Journal, vol. 14, article no. 116, pp. 1-5. Open access
2024	Zerella, JR, Homan, CC, Arts, P, Lin, X, Spinelli, SJ, Venugopal, P, Babic, M, Brautigan, PJ, Arriola-Martinez, L, Parker, WT, Branford, S, Ross, DM, Brown, AL, Scott, HS & Hahn, CN 37 other authors and 1 consortium 2024, 'Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition', Blood, online, pp. 1-42. Open access
2023	Batkovskyte, D, McKenzie, F, Taylan, F, Simsek-Kiper, PO, Ha, T, Arts, P, Babic, M, Jackson, MR, Scott, HS & Grigelioniene, G and 22 other authors 2023, 'Al-gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders', Journal of Bone and Mineral Research, vol. 38, no. 5, pp. 692-706. Open access 5 5 7
2023	Byrne, AB, Arts, P, Ha, TT, Kassahn, KS, Babic, M, Frank, MS, Feng, J, Wang, P, Lawrence, DM, Eshraghi, L, Arriola, L, Toubia, J, Gardner, AE, Morrow, R, Schreiber, AW, King-Smith, SL, Jackson, MR & Scott, HS 182 other authors and 2 consortia 2023, 'Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death', Nature Medicine, vol. 29, no. 1, pp. 180-189. Open access 19 20 84
2023	De Sousa, SM, Shen, A, Yates, CJ, Clifton-Bligh, R, Santoreneos, S, King, J, Toubia, J, Trivellin, G, Lania, AG, Stratakis, CA, Torpy, DJ & Scott, HS 2023, 'PAM variants in patients with thyrotrophinomas, cyclical Cushing's disease and prolactinomas', Frontiers in Endocrinology, vol. 14, article no. 1305606, pp. 1-10. Open access
2023	Flerlage, JE, Myers, JR, Maciaszek, JL, Oak, N, Hahn, CN, Brown, AL, Scott, HS & Rampersaud, E and 21 other authors 2023, 'Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma', Blood, vol. 141, no. 11, pp. 1293-1307. 8 2
2023	Ghaoui, R, Ha, TT, Kerkhof, J, McConkey, H, Gao, S, Babic, M, King, R, Ravenscroft, G, Koszyca, B, Otto, S, Laing, NG, Scott, H, Sadikovic, B & Kassahn, KS 2023, 'Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis', Neuromuscular Disorders, vol. 33, no. 6, pp. 484-489. 2
2023	Hiwase, D, Hahn, C, Tran, ENH, Chhetri, R, Wang, P, Kumar, S, Brown, A, Scott, H, Kok, CH & Shah, MV and 41 other authors 2023, 'TP53 mutation in therapy-related myeloid neoplasm defines a distinct molecular subtype', Blood, vol. 141, no. 9, pp. 1087-1091. Open access 11 9 1
2023	Homan, C, Scott, H & Brown, A 2023, 'Hereditary platelet disorders associated with germline variants in RUNX1, ETV6 and ANKRD26', Blood, vol. 141, no.13, pp. 1533-1543. Open access 18 20 5
2023	Homan, CC, Drazer, MW, Yu, K, Lawrence, DM, Feng, J, Arriola-Martinez, LA, Ha, TT, Venugopal, P, Arts, P, King-Smith, S, Cheah, JJC, Armstrong, M, Wang, P, Babic, M, Scott, HS & Brown, AL and 49 other authors 2023, 'Somatic mutational landscape of hereditary hematopoietic malignancies caused by germ line RUNX1, GATA2, and DDX41 variants', Blood Advances, vol. 7, no. 20, pp. 6092-6107. Open access 11 3
2023	Kazenwadel, J, Venugopal, P, Oszmiana, A, Toubia, J, Panara, V, Piltz, SG, Brown, C, Ma, W, Schreiber, AW, Koltowska, K, Taoudi, S, Thomas, PQ, Scott, HS & Harvey, NL 2023, 'A Prox1 enhancer represses haematopoiesis in the lymphatic vasculature', Nature, vol. 614, no. 7947, pp 343-348. 14 12 167
2023	Lunke, S, Bouffler, SE, Patel, C V, Sandaradura, SA, Ha, T, Arts, P, Scott, HS & Stark, Z and 36 other authors 2023, 'Integrated multi-omics for rapid rare disease diagnosis on a national scale', Nature Medicine, vol. 29, pp. 1681-1691. Open access 18 125
2023	Samaraweera, SE, Geukens, T, Casolari, DA, Nguyen, T, Sun, C, Bailey, S, Moore, S, Feng, J, Schreiber, AW, Parker, WT, Brown, AL, Butcher, C, Bardy, PG, Osborn, M, Scott, HS, Talaulikar, D, Grove, CS, Hahn, CN, D'Andrea, RJ & Ross, DM 2023, 'Novel modes of MPL activation in triple-negative myeloproliferative neoplasms', Pathology, vol. 55, no. 1, pp. 77-85. Open access 1
2023	Saygin, C, Roloff, G, Hahn, CN, Chhetri, R, Gill, S, Elmariah, H, Talati, C, Nunley, E, Gao, G, Kim, A, Bishop, M, Kosuri, S, Das, S, Singhal, D, Venugopal, P, Homan, CC, Brown, A, Scott, HS, Hiwase, D & Godley, LA 2023, 'Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies', Blood Advances, vol. 7, no. 4, pp. 549-554. Open access 24 26
2023	Shah, MV, Tran, ENH, Shah, S, Chhetri, R, Brown, AL, Scott, HS, Kumar, S, Hahn, CN, Kok, CH & Hiwase, DK and 12 other authors 2023, 'TP53 mutation variant allele frequency of ≥10% is associated with poor prognosis in therapy-related myeloid neoplasms', Blood Cancer Journal, vol. 13, no. 1, article no. 51, pp. 1-9. Open access 11 12 1
2023	Shanmuganathan, N, Wadham, C, Shahrin, NH, Feng, J, Thomson, D, Wang, P, Kok, CH, King, RM, Kenyon, RR, Lin, M, Ross, DM, Yeung, DT, Scott, HS, Schreiber, AW & Branford, S and 9 other authors 2023, 'Impact of additional genetic abnormalities at diagnosis of chronic myeloid leukemia for first-line imatinib-treated patients receiving proactive treatment intervention', Haematologica: The Hematology Journal, vol. 108, no. 9, pp. 2380-2395. Open access 3 16
2023	Stark, Z, Boughtwood, T, Haas, M, Braithwaite, J, Scott, HS & North, KN and 52 other authors 2023, 'Australian Genomics: outcomes of a 5-year national program to accelerate the integration of genomics in healthcare', American Journal of Human Genetics, vol. 110, no. 3, pp. 419-426. 13
2023	Sullivan, PJ, Gayevskiy, V, Davis, RL, Wong, M, Mayoh, C, Mallawaarachchi, A, Hort, Y, McCabe, MJ, Beecroft, S, Jackson, MR, Arts, P, Dubowsky, A, Laing, N, Dinger, ME, Scott, HS, Oates, E, Pinese, M & Cowley, MJ 2023, 'Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications', Genome Biology, vol. 24, no. 1, article no. 118. Open access 6 46
2023	Zerella, JR, Homan, CC, Arts, P, Brown, AL, Scott, HS & Hahn, CN 2023, 'Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy', Frontiers in Oncology, vol. 13, article no. 1183318. Open access 2 1
2023	Zhou, Z, Ma, X, Lin, Y, Cheng, D, Bavi, N, Secker, GA, Li, JV, Janbandhu, V, Sutton, DL, Scott, HS, Yao, M, Harvey, RP, Harvey, NL, Corry, B, Zhang, Y & Cox, CD 2023, 'MyoD-family inhibitor proteins act as auxiliary subunits of Piezo channels', Science, vol. 381, no. 6659, pp. 799-804. 10 166
2022	Bolukbasi, EY, Karolak, JA, Szafranski, P, Gambin, T, Matsika, A, McManus, S, Scott, HS, Arts, P, Ha, T, Barnett, CP, Rodgers, J & 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, pp. 1-5. 3 3 6
2022	Byrne, AB, Brouillard, P, Sutton, DL, Kazenwadel, J, Montazaribarforoush, S, Secker, GA, Oszmiana, A, Babic, M, Betterman, KL, Brautigan, PJ, Hahn, CN, Arts, P, Scott, HS & Harvey, NL and 18 other authors 2022, 'Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema', Science Translational Medicine, vol. 14, no. 634, article no. eabm4869, pp. 1-14. 21 17 184
2022	Drazer, MW, Homan, CC, Yu, K, de Andrade Silva, M, Feng, J, King-Smith, SL, Lawrence, DM, Schreiber, AW, Hahn, CN, Scott, HS, Brown, AL & Godley, LA and 10 other authors & 1 consortia 2022, 'Clonal hematopoiesis in patients with ANKRD26 or ETV6 germline mutations.', Blood Advances, vol. 6, no. 15, pp. 4357-4359. Open access 15 15 1
2022	Lao, L, Bourdeau, I, Gagliardi, L, He, X, Shi, W, Hao, B, Tan, M, Hu, Y, Peng, J, Coulombe, B, Torpy, DJ, Scott, HS, Lacroix, A, Luo, H & Wu, J 2022, 'ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia', Nucleic Acids Research, vol. 50, no. 11, pp. 6343-6367. Open access 8 7
2022	Mikaeel, RR, Young, JP, Li, Y, Poplawski, NK, Smith, E, Feng, J, Scott, H & Price, TJ 2022, 'RNF43 pathogenic Germline variant in a family with colorectal cancer', Clinical Genetics: An International Journal of Genetics and Molecular Medicine, vol. 101, no. 1, pp. 122-126. Open access 5 4
2022	Qian, X, DeGennaro, EM, Talukdar, M, Akula, SK, Scott, HS, Arts, P & Walsh, CA and 28 other authors 2022, 'Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis', Developmental Cell, vol. 57, no. 20, pp. 2381-2396.e13. Open access 8 8 25
2022	Shanmuganathan, N, Wadham, C, Thomson, D, Shahrin, NH, Vignaud, C, Obourn, V, Chaturvedi, S, Yang, F, Feng, J, Saunders, V, Kok, CH, Yeung, D, King, RM, Kenyon, RR, Lin, M, Wang, P, Scott, H, Hughes, T, Schreiber, AW & Branford, S 2022, 'RNA-based targeted gene sequencing improves the diagnostic yield of mutant detection in chronic myeloid leukemia', Journal of Molecular Diagnostics, vol. 24, no. 7, pp. 803-822. Open access 3 4 3
2022	van der Sluijs, PJ, Joosten, M, Alby, C, Attié-Bitach, T, Arts, P, Byrne, A, Scott, HS & Santen, GW and 55 other authors 2022, 'Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort', Genetics in Medicine, vol. 24, no. 8, pp. 1753-1760. 8 8 2
2021	DeAngelis, C, Byrne, AB, Morrow, R, Feng, J, Ha, T, Wang, P, Schreiber, AW, Babic, M, Taranath, A, Manton, N, King-Smith, SL, Schwarz, Q, Arts, P, Scott, HS & Barnett, C 2021, 'Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia', BMC Medical Genomics, vol. 14, no. 1, article no. 64, pp. 1-7. Open access 5 4 1
2021	Homan, CC, Venugopal, P, Arts, P, Shahrin, NH, Feurstein, S, Rawlings, L, Lawrence, DM, Andrews, J, King-Smith, SL, Harvey, NL, Brown, AL, Scott, HS & Hahn, CN 2021, 'GATA2 deficiency syndrome: a decade of discovery', Human Mutation, vol. 42, no. 11, pp. 1399-1421. Open access 33 30 9
2021	Ravindran, E, Jühlen, R, Vieira-Vieira, CH, Ha, T, Arts, P, Jackson, MR, Scott, H & Kaindl, AM and 17 other authors 2021, 'Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders', Human Molecular Genetics, vol. 30, no. 22, pp 2068-2081. 9 8
2021	Samaraweera, SE, Wang, PP, Li, KL, Casolari, DA, Feng, J, Maung, KZY, Scott, HS, Schreiber, AW, Brown, AL, Ross, DM, Gonda, TJ, Hahn, CN & D'Andrea, RJ and 13 other authors 2021, 'Childhood acute myeloid leukemia shows a high level of germline predisposition', Blood, vol. 138, no. 22, pp. 2293-2298. 5 5 39
2021	Singhal, D, Hahn, CN, Feurstein, S, Wee, LYA, Eshraghi, L, Schreiber, AW, Feng, J, Brown, AL, D'Andrea, RJ, Scott, HS & Hiwase, DK and 14 other authors 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, vol. 35, pp. 3245-3256. 40 39 12
2020	Arts, P, Garland, J, Byrne, AB, Hardy, TS, Babic, M, Feng, J, Wang, P, Ha, T, King-Smith, SL, Schreiber, AW, Crawford, A, Manton, N, Moore, L, Barnett, CP & Scott, HS 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, vol. 182, no. 5, pp. 1273-1277. Open access 9 9 4
2020	Brown, AL, Arts, P, Babic, M, Dobbins, J, Feng, J, Ha, T, Homan, CC, King-Smith, SL, Li, X-C, Brautigan, P, Butcher, C, D'Andrea, RJ, Hahn, CN & Scott, HS and 46 other authors 2020, 'RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML', Blood Advances, vol. 4, no. 6, pp. pp. 1131-1144. Open access 97 92 5
2020	Brown, AL, Hahn, C, Hiwase, D, Godley, LA & Scott, HS 2020, 'Correct application of variant classification guidelines in germline RUNX1 mutated disorders to assist clinical diagnosis', Leukemia and Lymphoma, vol. 61, no. 1, pp. 246-247. 2 2
2020	Brown, AL, Hahn, CN & Scott, HS 2020, 'Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA)', Blood, vol. 136, pp. 24-35. Open access 68 66
2020	Byrne, AB, Mizumoto, S, Arts, P, Yap, P, Feng, J, Schreiber, AW, Babic, M, King-Smith, SL, Barnett, CP, Moore, L, Sugahara, K, Mutlu-Albayrak, H, Nishimura, G, Liebelt, JE, Yamada, S, Savarirayan, R & Scott, HS 2020, 'Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis', Journal of Medical Genetics, article no. 106700, pp. 1-7. Open access 10 12 8
2020	Corboy, G, Othman, J, Lee, L, Wei, A, Ivey, A, Blombery, P, Agarwal, R, Fong, C, Brown, A, Scott, H, Grove, C, Louw, A, Enjeti, A, Iland, H, Paul, C, Bohlander, S, Kakadia, P, Horan, M & Stevenson, W 2020, 'Laboratory quality assessment of candidate gene panel testing for acute myeloid leukaemia: a joint ALLG / RCPAQAP initiative', Pathology, vol. 53, no. 4, pp. 487-492.
2020	De Sousa, SM, Manavis, J, Feng, J, Wang, P, Schreiber, AW, Scott, HS & Torpy, DJ 2020, 'A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing's disease', BMC Endocrine Disorders, vol. 20, article no. 18, pp. 2-6. Open access 4 5
2020	Fox, LC, Tan, M, Brown, AL, Arts, P, Thompson, E, Ryland, GL, Lickiss, J, Scott, HS, Poplawski, NK, Phillips, K, Came, NA, James, P, Ting, SB, Ritchie, DS, Szer, J, Hahn, CN, Schwarer, A & Blombery, P 2020, 'A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability', British Journal of Haematology, vol. 190, no. 5, pp. 297-301. Open access 12 12
2020	Thomson, DW, Shahrin, NH, Wang, PP, Wadham, C, Shanmuganathan, N, Scott, HS, Dinger, ME, Hughes, TP, Schreiber, AW & Branford, S 2020, 'Aberrant RAG-mediated recombination contributes to multiple structural rearrangements in lymphoid blast crisis of chronic myeloid leukemia', Leukemia, vol. 34, no. 8, pp. 2051-2063. Open access 29 28 1
2020	Venugopal, P, Gagliardi, L, Forsyth, C, Feng, J, Phillips, K, Babic, M, Poplawski, NK, Rienhoff, HY, Schreiber, AW, Hahn, CN, Brown, AL & Scott, HS 2020, 'Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss', BMC Medical Genetics, vol. 21, no. 1, article no. 35, pp. 1-5. Open access 3 3 1
2020	de Sousa, SM, Toubia, J, Hardy, TS, Feng, J, Wang, P, Schreiber, AW, Geoghegan, J, Hall, R, Rawlings, L, Buckland, M, Luxford, C, Novos, T, Clifton-Bligh, RJ, Poplawski, NK, Scott, HS & Torpy, DJ 2020, 'Aberrant splicing of SDHC in families with unexplained succinate dehydrogenase-deficient paragangliomas', Journal of the Endocrine Society, vol. 4, no. 12, pp. 1-12. Open access 8 8
2019	Byrne, AB, Arts, P, Polyak, SW, Feng, J, Schreiber, A, Kassahn, KS, Hahn, CN, Mordaunt, DA, Fletcher, JM, Lipsett, J, Bratkovic, D, Booker, GW, Smith, NJ & Scott, HS 2019, 'Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6', npj Genomic Medicine, vol. 4, no. 1, article number 28, pp. 1-8. Open access 19 17 53
2019	Cheah, JJ, Brown, AL, Schreiber, AW, Feng, J, Babic, M, Moore, S, Young, C-C, Fine, M, Phillips, K, Guandalini, M, Wilson, P, Poplawski, N, Hahn, CN & Scott, HS 2019, 'A novel germline SAMD9L mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia', Haematologica: The Hematology Journal, vol. 104, no. 7, pp. e318-e321. Open access 14 13
2019	De Sousa, SM, Wang, PP, Santoreneos, S, Shen, A, Yates, CJ, Babic, M, Eshraghi, L, Feng, J, Koszyca, B, Roberts-Thomson, S, Schreiber, AW, Torpy, DJ & Scott, HS 2019, 'The genomic landscape of sporadic prolactinomas', Endocrine Pathology, vol. 30, no. 4, pp. 318-328. 12 13
2019	Iacobucci, I, Wen, J, Meggendorfer, M, Choi, JK, Lewis, ID, D'Andrea, RJ, Brown, AL, Scott, HS, Hahn, CN & Mullighan, CG 2019, 'Genomic subtyping and therapeutic targeting of acute erythroleukemia', Nature Genetics, vol. 51, no. 4, pp. 694-704. Open access 101 101 83
2019	Lee, H-C, Md Yusof, HH, Leong, MP-Y, Zainal Abidin, S, Seth, EA, Hewitt, CA, Vidyadaran, S, Nordin, N, Scott, HS, Cheah, P-S & 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, vol. 129, no. 9, pp. 871-881. 11 9
2019	Yates, CJ, Shen, AJJ, King, J, Scott, H & Colman, P 2019, 'Insights into pituitary tumorigenesis: from Sanger sequencing to next-generation sequencing and beyond', Expert Review of Endocrinology and Metabolism, vol. 14, no. 6, pp. 399-418. Open access 7 7
2019	Yusof, HH, Lee, H-C, Seth, EA, Wu, X, Hewitt, CA, Scott, HS, Cheah, P-S, Li, Y-M, Chau, D-M & 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, vol. 67, no. 4, pp. 632-642. 3 2
2018	Al Seraihi, AF, Rio-Machin, A, Tawana, K, Bödör, C, Scott, H, Hahn, C & Fitzgibbon, J and 18 other authors 2018, 'GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML', Leukemia, vol. 32, no. 11, pp. 2502-2507. Open access 50 49
2018	Beck, D, Thoms, J, Palu, C, Herold, T, Brown, A, Babic, M, Hahn, C, Perugini, M, Scott, H, Lewis, I, D'Andrea, R & Pimanda, J 2018, 'A four-gene LincRNA expression signature predicts risk in multiple cohorts of acute myeloid leukemia patients', Leukemia, vol. 32, no. 2, pp. 263-272. Open access 34 33 2
2018	Branford, S, Wang, P, Yeung, DT, Thomson, D, Wadham, C, Shahrin, NH, Marum, JE, Nataren, N, Parker, WT, Shanmuganathan, N, Donaldson, Z, Altamura, H, Georgievski, J, Brown, A, Hahn, C, White, DL, Scott, HS, Schreiber, AW & Hughes, TP and 18 other authors 2018, 'Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high-risk disease', Blood, vol. 132, no. 9, pp. 948-961. Open access 144 139 9
2018	Chong, C-E, Venugopal, P, Stokes, P, Lee, Y, Brautigan, P, Yeung, D, Babic, M, Engler, G, Lane, S, Klingler-Hoffmann, M, Matthews, J, D'Andrea, R, Brown, A, Hahn, C & Scott, H 2018, 'Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes', Leukemia, vol. 32, no. 1, pp. 194-202. Open access 49 46 4
2017	Carruthers, V, Nicola, M, Venugopal, P, Hahn, CN, Scott, HS & Revesz, T 2017, 'Clinical implications of transient myeloproliferative disorder in a neonate without Down syndrome features', Journal of Paediatrics and Child Health, vol. 53, no. 10, pp. 1018-1020. 1 1
2017	Casolari, D, Nguyen, T, Butcher, C, Iarossi, D, Hahn, C, Bray, S, Neufing, P, Parker, W, Feng, J, Maung, K, Wee, A, Vidovic, L, Kok, C, Bardy, P, Branford, S, Lewis, I, Lane, S, Scott, H, Ross, D & D'Andrea, R 2017, 'A novel, somatic, transforming mutation in the extracellular domain of epidermal growth factor receptor identified in myeloproliferative neoplasm', Scientific Reports, vol. 7, article no. 2467, pp. 1-9. Open access 6 6 3
2017	Cheah, JJ, Hahn, CN, Hiwase, DK, Scott, HS & Brown, AL 2017, 'Myeloid neoplasms with germline DDX41 mutation', International Journal of Hematology, vol. 106, no. 2, pp. 163-174. 76 70
2017	De Sousa, S, Stowasser, M, Feng, J, Schreiber, A, Wang, P, Hahn, C, Gordon, R, Torpy, D, Scott, H & Gagliardi, L 2017, 'ARMC5 is not implicated in familial hyperaldosteronism type II (FH-II)', Journal of Human Hypertension, vol. 31, no. 12, pp. 857-859. 4 2
2017	De Sousa, SM, McCabe, MJ, Wu, K, Roscioli, T, Gayevskiy, V, Brook, K, Rawlings, L, Scott, HS, Thompson, TJ, Earls, P, Gill, AJ, Cowley, MJ, Dinger, ME & McCormack, A I 2017, 'Germline variants in familial pituitary tumour syndrome genes are common in young patients and families with additional endocrine tumours', European Journal of Endocrinology, vol. 176, no. 5, pp. 635-644. Open access 29 23
2017	Evans, DGR, Salvador, H, Chang, VY, Erez, A, Voss, SD, Druker, H, Scott, HS & Tabori, U 2017, 'Cancer and central nervous system tumor surveillance in pediatric neurofibromatosis 2 and related disorders', Clinical Cancer Research, vol. 23, no. 12, pp. e54-e61. Open access 75 61
2017	Evans, DGR, Salvador, H, Chang, VY, Erez, A, Voss, SD, Schneider, KW, Scott, HS, Plon, SE & Tabori, U 2017, 'Cancer and central nervous system tumor surveillance in pediatric neurofibromatosis 1', Clinical Cancer Research, vol. 23, no. 12, pp. e46-e53. Open access 124 106
2017	Marum, JE, Yeung, DT, Purins, L, Reynolds, J, Parker, WT, Stangl, D, Wang, PP, Price, DJ, Tuke, J, Schreiber, AW, Scott, HS, Hughes, TP & Branford, S 2017, 'ASXL1 and BIM germ line variants predict response and identify CML patients with the greatest risk of imatinib failure', Blood Advances, vol. 1, no. 18, pp. 1369-1381. Open access 18 15
2017	Porter, CC, Druley, TE, Erez, A, Kuiper, RP, Onel, K, Schiffman, JD, Schneider, KW, Scollon, SR, Scott, HS, Strong, LC, Walsh, MF & Nichols, KE 2017, 'Recommendations for surveillance for children with leukemia-predisposing conditions', Clinical Cancer Research, vol. 23, no. 11, pp. e14-e22. Open access 76 69
2017	Tiong, IS, Casolari, DA, Moore, S, Nguyen, T, Van Velzen, MJ, Zantomio, D, Scott, HS, D'Andrea, RJ, Hahn, CN & Ross, DM 2017, 'Apparent 'JAK2-negative' polycythaemia vera due to compound mutations in exon 14', British Journal of Haematology, online, pp. 1-4. Open access 12 11 4
2017	Venugopal, P, Moore, S, Lawrence, DM, George, AJ, Hannan, RD, Bray, SC, To, LB, D'Andrea, RJ, Feng, J, Tirimacco, A, Yeoman, AL, Young, CC, Fine, M, Schreiber, AW, Hahn, CN, Barnett, C, Saxon, B & Scott, HS 2017, 'Self-reverting mutations partially correct the blood phenotype in a diamond blackfan anemia patient', Haematologica: The Hematology Journal, vol. 102, pp. 506-509. Open access 23 21 15
2017	Walsh, MF, Chang, VY, Kohlmann, WK, Scott, HS, Cunniff, C, Bourdeaut, F, Molenaar, JJ, Porter, CC, Sandlund, JT, Plon, SE, Wang, LL & Savage, SA 2017, 'Recommendations for childhood cancer screening and surveillance in DNA repair disorders', Clinical Cancer Research, vol. 23, no. 11, pp. e23-e31. Open access 85 74
2016	Barnett, CP, Nataren, NJ, Klingler-Hoffmann, M, Schwarz, Q, Chong, C-E, Lee, YK, Bruno, DL, Lipsett, J, McPhee, AJ, Schreiber, AW, Feng, J, Hahn, CN & Scott, HS 2016, 'Ectrodactyly and lethal pulmonary acinar dysplasia associated with homozygous FGFR2 mutations identified by exome sequencing', Human Mutation, vol. 37, no. 9, pp. 955-963. Open access 28 21 1
2016	Bracken, CP, Scott, HS & Goodall, GJ 2016, 'A network-biology perspective of microRNA function and dysfunction in cancer', Nature Reviews Genetics, vol. 17, pp. 719-732. Open access 561 537 33
2016	De Sousa, SM, Kassahn, KS, McIntyre, LC, Chong, C-E, Scott, HS & Torpy, DJ 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, vol. 16, no. 1, article no. 58 pp. 1-7. Open access 7 4
2016	Ling, K-H, Brautigan, PJ, Moore, S, Fraser, R, Cheah, P-S, Raison, JM, Babic, M, Lee, YK, Daish, T, Mattiske, DM, Mann, JR, Adelson, DL, Thomas, PQ, Hahn, CN & Scott, HS 2016, 'Derivation of an endogenous small RNA from double-stranded Sox4 sense and natural antisense transcripts in the mouse brain', Genomics, vol. 107, nos. 2-3, pp. 88-99. Open access 14 12 1
2016	Ling, K-H, Brautigan, PJ, Moore, S, Fraser, R, Leong, MP-Y, Leong, J-W, Zainal, AS, Lee, H-C, Cheah, P-S, Raison, JM, Babic, M, Lee, YK, Daish, T, Mattiske, DM, Mann, JR, Adelson, DL, Thomas, PQ, Hahn, CN & Scott, HS 2016, 'In depth analysis of the Sox4 gene locus that consists of sense and natural antisense transcripts', Data in Brief, vol. 7, pp. 282-290. Open access 4 3 1
2016	Oftedal, BE, Ardesjö, BL, Hamm, D, Gan, P-Y, Holdsworth, SR, Hahn, CN, Schreiber, AW & Scott, HS 2016, 'T cell receptor assessment in autoimmune disease requires access to the most adjacent immunologically active organ', Journal of Autoimmunity, vol. 81, pp. 24-33. Open access 7 6
2016	Polasek, TM, Ambler, K, Scott, HS, Sorich, MJ, Kaub, PA, Rowland, A, Wiese, MD & Kichenadasse, G 2016, 'Targeted pharmacotherapy after somatic cancer mutation screening', F1000Research, vol. 5, article no. 1551, pp. 1-8. Open access 11 1
2016	Ross, D, Altamura, H, Hahn, C, Nicola, M, Yeoman, A, Holloway, M, Geoghegan, J, Feng, J, Schreiber, A, Branford, S, Moore, S & Scott, H 2016, 'Delayed diagnosis leading to accelerated-phase chronic eosinophilic leukemia due to a cytogenetically cryptic, imatinib-responsive TNIP1-PDFGRB fusion gene', Leukemia, vol. 30, no. 6, pp. 1402-1405. Open access 7 7
2015	Gagliardi, L, Nataren, N, Feng, J, Schreiber, AW, Hahn, CN, Conwell, LS, Coman, D & Scott, HS 2015, 'Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss', American Journal of Medical Genetics Part A, vol. 167, no. 8, pp. 1872-1876. 2 10
2015	Hahn, C, Brautigan, P, Chong, C-E, Janssan, A, Venugopal, P, Lee, Y, Tims, A, Horwitz, M, Klingler-Hoffmann, M & 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, vol.29, no.8, pp. 1795-1797. 9 9
2015	Hahn, C, Ross, D, Feng, J, Beligaswatte, A, Hiwase, D, Parker, W, Ho, M, Zawitkowski, M, Ambler, K, Cheetham, G, Lee, Y, Babic, M, Butcher, C, Engler, G, Brown, A, D'Andrea, R, Lewis, I, Schreiber, A, To, L & Scott, H 2015, 'A tale of two siblings: two cases of AML arising from a single pre-leukemic DNMT3A mutant clone', Leukemia, vol. 29, no. 10, pp. 2101-2104. Open access 14 25
2015	Hahn, CN, Venugopal, P, Scott, HS & Hiwase, DK 2015, 'Splice factor mutations and alternative splicing as drivers of hematopoietic malignancy', Immunological Reviews, vol. 263, no. 1, pp. 257-278. 40 35 1
2015	Hardtke-Wolenski, M, Taubert, R, Noyan, F, Sievers, M, Dywicki, J, Schlue, J, Falk, CS, Lundgren, BA, Scott, HS, Pich, A, Anderson, MS, Manns, MP & Jaeckel, E 2015, 'Autoimmune hepatitis in a murine autoimmune polyendocrine syndrome type 1 model is directed against multiple autoantigens', Hepatology, vol. 61, no.4, pp. 1295-1305. Open access 37 31
2015	Hu, Z, Scott, HS, Qin, G, Zheng, G, Chu, X, Xie, L, Adelson, DL, Oftedal, BE, Venugopal, P, Babic, M, Hahn, CN, Zhang, B, Wang, X, Li, N & Wei, C 2015, 'Revealing missing human protein isoforms based on Ab Initio Prediction, RNA-seq and proteomics', Scientific Reports, vol. 5, article no. 10940, pp. 1-15. Open access 32 26 10
2015	Kazenwadel, J, Betterman, KL, Chong, C-E, Stokes, PH, Lee, YK, Secker, GA, Agalarov, Y, Demir, CS, Lawrence, DM, Sutton, DL, Tabruyn, SP, Miura, N, Salminen, M, Petrova, T, Matthew, JM, Hahn, CN, Scott, HS & Harvey, NL 2015, 'GATA2 is required for lymphatic vessel valve development and maintenance', Journal of Clinical Investigation, vol. 125, no. 8, pp. 2979-2994. Open access 175 156 16
2015	Lim, SL, Qu, ZP, Kortschak, RD, Lawrence, DM, Geoghegan, J, Hempfling, AL, Bergmann, M, Goodnow, CC, Ormandy, CJ, Wong, L, Mann, J, Scott, HS, Jamsai, D, Adelson, DL & O'Bryan, MK 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, vol. 11, no. 10, article no. e1005620, pp. 1-30. Open access 91 84
2015	Mordaunt, D, Oftedal, B, 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, vol. 52, no. 2, pp. 230-234. 2 2
2015	Mordaunt, DA, McIntyre, LC, Salvemini, H, Ibrahim, A, Bratkovic, D, Ketteridge, D, Scott, HS, Kassahn, KS & Smith, N 2015, 'Presentation of m.3243A > G (MT-TL1; tRNALeu) variant with focal neurology in infancy', American Journal of Medical Genetics Part A, vol. 167, no. 11, pp. 2697-2701. 2 3
2014	Ellyard, J I, Jerjen, R, Martin, JL, Lee, AY, Field, MA, Jiang, HS, Cappello, J, Naumann, SK, Andrews, TD, Scott, HS, Casarotto, MG, Goodnow, CC, Chaitow, J, Pascual, V, Hertzog, P, Alexander, S I, Cook, MC & Vinuesa, CG 2014, 'Identification of a pathogenic variant in trex1 in early-onset cerebral systemic lupus erythematosus by whole-exome sequencing', Arthritis and Rheumatology, vol. 66 no. 12, pp. 3382-3386. Open access 60 54
2014	Gagliardi, L, Schreiber, AW, Hahn, CN, Feng, J, Cranston, T, Boon, H, Hotu, C, Oftedal, BE, Cutfield, R, Adelson, DL, Braund, WJ, Gordon, RD, Rees, DA, Grossman, AB, Torpy, DJ & Scott, HS 2014, 'ARMC5 mutations are common in familial bilateral macronodular adrenal hyperplasia', Journal of Clinical Endocrinology and Metabolism, vol. 99, no. 9, pp. 1784-1792. Open access 97 81
2014	Gagliardi, L, Scott, HS, Feng, J & Torpy, DJ 2014, 'A case of aromatase deficiency due to a novel CYP19A1 mutation', BMC Endocrine Disorders, vol. 14, paper no. 16, pp. 1-7. Open access 36 33
2014	Kassahn, KS, Scott, HS & Caramins, MC 2014, 'Integrating massively parallel sequencing into diagnostic workflows and managing the annotation and clinical interpretation challenge', Human Mutation, vol. 35, no. 4, pp. 413-423. 18 18
2014	Ling, K-H, Hewitt, CA, Tan, K-L, Cheah, P-S, Vidyadaran, S, Lai, M-I, Lee, H-C, Simpson, K, Hyde, L, Pritchard, MA, Smyth, GK, Thomas, T & Scott, HS 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, vol. 15, no. 1, article no. 624, pp. 1-19. Open access 59 55
2014	Parker, WT, Phillis, SR, Yeung, DT, Hughes, TP, Scott, HS & Branford, S 2014, 'Many BCR-ABL1 compound mutations reported in chronic myeloid leukemia patients may actually be artifacts due to PCR-mediated recombination', Blood, vol. 124, no. 1, pp. 153-155. Open access 24 24
2014	Tan, K-L, Ling, K-H, Hewitt, CA, Cheah, P-S, Simpson, K, Gordon, L, Pritchard, MA, Smyth, GK, Thomas, T & Scott, HS 2014, 'Transcriptional profiling of the postnatal brain of the Ts1Cje mouse model of Down syndrome', Genomics Data, vol. 2, pp. 314-317. Open access 2
2013	Molina, L, Fasquelle, L, Nouvian, R, Salvetat, N, Scott, HS, Guippponi, M, Molina, F, Puel, J-L & Delprat, B 2013, 'Tmprss3 loss of function impairs cochlear inner hair cell Kcnma1 channel membrane expression', Human Molecular Genetics, vol. 22, no. 7, article no. dds532, pp. 1289-1299. Open access 27 23
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, vol. 109, no. 6, pp. 1593-1598. Open access 19 16
2013	Roberts, ND, Kortschak, DR, Parker, WT, Schreiber, AW, Branford, S, Scott, HS, Glonek, G & Adelson, DL 2013, 'A comparative analysis of algorithms for somatic SNV detection in cancer', Bioinformatics, vol. 29, no. 18, pp. 2223-2230. Open access 78 76
2013	Tan, DS, Gan, PY, O'Sullivan, KM, Hammett, M V, Summers, SA, Ooi, JD, Lundgren, BA, Boyd, RL, Scott, HS, Kitching, AR, Chidgeym, AP & Holdsworth, SR 2013, 'Thymic deletion and regulatory t cells prevent antimyeloperoxidase GN', Journal of the American Society of Nephrology, vol. 24, no. 4, pp. 573-585. Open access 39 35
2012	Hahn, CN & Scott, HS 2012, 'Spliceosome mutations in hematopoietic malignancies', Nature Genetics, vol. 44, no. 1, pp. 9-10. 54 45
2012	Kazenwadel, J, Secker, GA, Liu, YJ, Rosenfeld, JA, Chong, C-E, Scott, HS & Harvey, NL and 14 other authors 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, vol. 119, no. 5, pp. 1283-1291. Open access 233 207
2012	Leong, DW, Komen, JC, Hewitt, CA, Arnaud, E, McKenzie, M, Phipson, B, Bahlo, M, Laskowsk, A, Kinkel, SA, Davey, GM, Heath, WR, Voss, AK, Zahedi, RP, Pitt, JJ, Chrast, R, Sickmann, A, Ryan, MT, Smyth, GK, Thorburn, DR & Scott, HS 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, vol. 287, no. 24, pp. 20652-20663. Open access 53 49
2012	Parker, WT, Ho, M, Scott, HS, Hughes, TP & 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. Open access 63 57
2012	Rao, N, Butcher, CM, Lewis, ID, Ross, DM, Melo, J V, Scott, HS, Bardy, PG & D'Andrea, RJ 2012, 'Clonal and lineage analysis of somatic DNMT3A and JAK2 mutations in a chronic phase polycythemia vera patient', British Journal of Haematology, vol. 156, no. 2, pp. 268-270. Open access 11 12
2012	Wang, X, Laan, M, Bichele, R, Kisand, K, Scott, HS & Peterson, P 2012, 'Post-Aire maturation of thymic medullary epithelial cells involves selective expression of keratinocyte-specific autoantigens', Frontiers in Immunology, vol. 3, article no. 19, pp. 1-19. Open access 88 78
2011	Ahlgren, KM, Moretti, S, Lundgren, BA, Karlsson, I, Åhlin, E, Norling, A, Hallgren, Å, Perheentupa, J, Gustafsson, J, Rorsman, F, Crewther, PE, Rönnelid, J, Bensing, S, Scott, HS, Kämpe, O, Romani, L & 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, vol. 41, no. 1, pp. 235-245. Open access 40 38
2011	Aricha, R, Feferman, T, Hamish, SS, Souroujon, MC, Berrih-Aknin, S & Fuchs, S 2011, 'The susceptibility of Aire-/- mice to experimental myasthenia gravis involves alterations in regulatory T cells', Journal of Autoimmunity, vol. 36, no. 1, pp. 16-24. 36 33
2011	Drini, M, Wong, NC, Scott, HS, Craig, JM, Dobrovic, A, Hewitt, CA, Dow, C, Young, JP, Jenkins, MA, Saffery, R & Macrae, FA 2011, 'Investigating the potential role of genetic and epigenetic variation of DNA methyltransferase genes in hyperplastic polyposis syndrome', PLoS One, vol. 6, no. 2, pp. 1-8. Open access 9 8
2011	Hahn, CN, Chong, C-E, Carmichael, CL, Wilkins, EJ, Brautigan, PJ, Brown, AL, D'Andrea, RJ & Scott, HS and 20 other authors 2011, 'Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia', Nature Genetics, vol. 43, no. 10, pp. 1012-1019. Open access 494 448
2011	Hurbert, F-X, Kinkel, SA, Davey, GM, Phipson, B, Mueller, SN, Liston, A, Proietto, A I, Cannon, PZ, Forehan, S, Smythe, GK, Wu, L, Goodnow, CC, Carbone, FR, Scott, HS & Heath, WR 2011, 'Aire regulates the transfer of antigen from mTECs to dendritic cells for induction of thymic tolerance', Blood, vol. 118, no. 9, pp. 2462-2472. Open access 161 148
2011	Kont, V, Murumägi, A, Tykocinski, L-O, Kinkel, SA, Webster, K E, Kisand, K, Tserel, L, Pihlap, M, Ströbel, P, Scott, HS, Marx, A, Kyewski, B & Peterson, P 2011, 'DNA methylation signatures of the AIRE promoter in thymic epithelial cells, thymomas and normal tissues', Molecular Immunology, vol. 49, no. 3, pp. 518-526. 31 30
2011	Kraft, M, Cirstea, IC, Voss, AK, Thomas, T, Goehring, I, Sheikh, BN, Gordon, L, Scott, H, Smyth, GK, Ahmadian, MR, Trautmann, U, Zenker, M, Tartaglia, M, Ekici, A, Reis, A, Dorr, H-G, Rauch, A & Thiel, CT 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, vol. 121, no. 9, pp. 3479-3491. Open access 84 83
2011	Ling, K-H, Brautigan, PJ, Hahn, CN, Daish, T, Rayner, JR, Cheah, P-S, Raison, JM, Piltz, S, Mann, JR, Mattiske, DM, Thomas, PQ, Adelson, DL & Scott, HS 2011, 'Deep sequencing analysis of the developing mouse brain reveals a novel microRNA', BMC Genomics, vol. 12, article no. 176, pp. 1-15. Open access 52 45
2011	Ling, K-H, Hewitt, CA, Beissbvarth, T, Hyde, L, Cheah, P-S, Smyth, GK, Tan, S-S, Hahn, CN, Thomas, T, Thomas, PQ & Scott, HS 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, vol. 21, no. 3, pp. 683-697. Open access 34 34
2011	Parker, WT, Lawrence, RM, Ho, M, Irwin, DL, Scott, HS, Hughes, TP & 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, vol. 29, no. 32, pp. 4250-4259. 76 72
2011	Pomié, C, Vicente, R, Vuddamalay, Y, Lundgren, BA, van der Hoek, M, Enault, G, Kagan, J, Fazilleau, N, Scott, HS, Romagnoli, P & Van Meerwijk, JP 2011, 'Autoimmune regulator (AIRE)-deficient CD8 +CD28 low regulatory T lymphocytes fail to control experimental colitis', Proceedings of the National Academy of Sciences of USA, vol. 108, no. 30, pp. 12432-12442. Open access 16 16
2010	Cowin, PA, Gold, E, Aleksova, J, O'Bryan, MK, Foster, PM, Scott, HS & Risbridger, GP 2010, 'Vinclozolin exposure in utero induces postpubertal prostatitis and reduces sperm production via a reversible hormone-regulated mechanism', Endocrinology, vol. 151, no. 2, pp. 783-792. Open access 44 38
2010	George, AJ, Gordon, L, Beissbarth, T, Koukoulas, I, Holsinger, RD, Perreau, V, Cappai, R, Tan, S-S, Masters, CL, Scott, HS & Li, Q-X 2010, 'A serial analysis of gene expression profile of the Alzheimer's disease Tg2576 mouse model', Neurotoxicity Research, vol. 17, no. 4, pp. 360-379. 51 50
2010	Guipponi, M, Li, Q-X, Hyde, L, Beissbarth, T, Smyth, GK, Masters, CL & Scott, HS 2010, 'SAGE analysis of genes differentially expressed in presymptomatic TgSOD1G93A transgenic mice identified cellular processes involved in early stage of ALS pathology', Journal of Molecular Neuroscience, vol. 41, no. 1, pp. 172-182. 13 12
2010	Hanifa, S, Scott, HS, Crewther, P, Guipponi, M & Tan, J 2010, 'Thyroxine treatments do not correct inner ear defects in tmprss1 mutant mice', NeuroReport, vol. 21, no. 13, pp. 897-901. Open access 8 6
2010	Kedzierska, K, Valkenburg, SA, Guillonneau, C, Hubert, F-X, Cukalac, T, Curtis, JM, Stambas, J, Scott, HS, Kedzierski, L, Venturi, V & Davenport, MP 2010, 'Diversity and clonotypic composition of influenza-specific CD8+ TCR repertoires remain unaltered in the absence of Aire', European Journal of Immunology, vol. 40, no. 3, pp. 849-858. Open access 6 5
2010	Kelly, RM, Goren, EM, Taylor, PA, Mueller, SN, Stefanski, HE, Osborn, MJ, Scott, HS, Komarova, EA, Gudkov, A V, Hollander, GA & Blazar, BR 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, vol. 115, no. 5, pp. 1088-1097. Open access 51 45
2010	Ko, H-J, Kinkel, SA, Hubert, F-X, Nasa, Z, Chan, J, Siatskas, C, Hirubalan, P, Toh, B-H, Scott, HS & Alderuccio, F 2010, 'Transplantation of autoimmune regulator-encoding bone marrow cells delays the onset of experimental autoimmune encephalomyelitis', European Journal of Immunology, vol. 40, no. 12, pp. 3499-3509. Open access 17 15
2010	Milicevic, Z, Milicevic, NM, Laan, M, Peterson, P, Kisand, K, Scott, HS & Westermann, J 2010, 'Ultrastructure of medullary thymic epithelial cells of autoimmune regulator (Aire)-deficient mice', Immunology and Cell Biology, vol. 88, no. 1, pp. 50-56. 9 10
2009	Campbell, IK, Kinkel, SA, Drake, SF, van Nieuwenhuijze, A, Hubert, F-X, Tarlinton, DM, Heath, WR, Scott, HS & Wicks, IP 2009, 'Autoimmune regulator controls T cell help for pathogenetic autoantibody production in collagen-induced arthritis', Arthritis and Rheumatology, vol. 60, no. 6, pp. 1683-1693. Open access 29 28
2009	Carmichael, CL, Majewski, IJ, Alexander, WS, Metcalf, D, Hilton, DJ, Hewitt, CA & Scott, HS 2009, 'Hematopoietic defects in the Ts1Cje mouse model of Down syndrome', Blood, vol. 113, no. 9, pp. 1929-1937. 49 42
2009	Fletcher, AL, Lowen, TE, Sakkal, S, Reiseger, JJ, Hammett, M V, Seach, N, Scott, HS, Boyd, RL & Chidgey, AP 2009, 'Ablation and regeneration of tolerance-inducing medullary thymic epithelial cells after cyclosporine, cyclophosphamide, and dexamethasone treatment', Journal of Immunology, vol. 183, no. 2, pp. 823-831. Open access 67 64
2009	Kinkel, SA, Hubert, F-X, Crewther, PE, Cannon, PZ, Webster, KE, Link, M, Uibo, R, O'Bryan, MK, Meager, A, Forehan, SP, Smyth, GK, Mittaz, L, Antonarakis, SE, Peterson, P, Heath, WR & Scott, HS 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. Open access 114
2009	Laan, M, Kisand, K, Kont, V, Moll, K, Tserel, L, Scott, HS & 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, vol. 183, no. 12, pp. 7682-7691. Open access 77 76
2009	Milicevic, NM, Milicevic, Z, Miljkovic, MD, Labudovic-Borovic, M, Laan, M, Peterson, P, Kisand, K, Scott, HS, Qu, N & Westermann, J 2009, 'Metallophilic macrophages are fully developed in the thymus of autoimmune regulator (Aire)-deficient mice', Histochemistry and Cell Biology, vol. 131, article number 643, pp. 643-649. 5 5
2008	Alimohammadi, M, Björklund, P, Hallgren, Å, Pontynen, N, Szinnai, G, Keller, M, Ekwall, O, Kinkel, S, Husebye, E, Gustafsson, J, Rorsman, F, Peltonen, L, Betterle, C, Perheentupa, J, Akerstrom, G, Westin, G, Scott, H, Hollander, G & Kampe, O 2008, 'Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen', New England Journal of Medicine, vol. 358, no. 10, pp. 1018-1028. Open access 236
2008	Butcher, CM, Hahn, U, To, L, Gecz, J, Wilkins, EJ, Scott, HS, Bardy, PG & D'Andrea, RJ 2008, 'Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patients', Leukemia, vol. 22, no. 4, pp. 870-873. Open access 61 58
2008	Ferguson, BJ, Alexander, C, Rossi, SW, Liiv, I, Rebane, A, Worth, CL, Wong, J, Laan, M, Peterson, P, Jenkinson, EJ, Anderson, G, Scott, HS, Cooke, A & Rich, T 2008, 'AIRE's CARD revealed, a new structure for central tolerance provokes transcriptional plasticity', Journal of Biological Chemistry, vol. 283, no. 3, pp. 1723-1731. Open access 75 70
2008	Kont, V, Laan, M, Kisand, K, Merits, A, Scott, H & Part, P 2008, 'Modulation of Aire regulates the expression of tissue-restricted antigens', Molecular Immunology, vol. 45, no. 1, pp. 25-33. Open access 82 80
2008	Pitt, LA, Hubert, F-X, Scott, HS, Godfrey, D I & Berzins, SP 2008, 'NKT cell development in the absence of the autoimmune regulator gene (Aire)', European Journal of Immunology, vol. 38, no. 10, pp. 2689-2696. Open access 11 10
2008	Seach, N, Ueno, T, Fletcher, A, Lowen, T, Mattesich, M, Engwerda, C, Scott, H, Ware, C, Chidgey, A, Gray, D & Boyd, R 2008, 'The Lymphotoxin pathway regulates aire-independent expression of ectopic genes and chemokines in thymic stromal cells ¹', Journal of Immunology, vol. 180, no. 8, pp. 5384-5392. Open access 95
2008	White, AJ, Withers, DR, Parnel, SM, Scott, HJ, Finke, D, Lane, PJ, Jenkinson, EJ & Anderson, G 2008, 'Sequential phases in the development of Aire-expressing medullary thymic epithelial cells involve distinct cellular input', European Journal of Immunology, vol. 38, no. 4, pp. 942-947. Open access 75 63

Other outputs

1. Genetics and pathologic mechanisms of haematological malignancy (HM = leukaemia and lymphoma) predisposition and progressionOur laboratory focuses on disease gene discovery and confirmation utilizing latest genomic technologies. We have accrued samples from over 90 families with predisposition to HM, which are invaluable resource for the identification of genetic and epigenetic changes leading to these and other cancers. Using a combination of strategies including state-of-the-art whole exome and genome next generation sequencing, we have found additional genes that segregate with diseased individuals in some of these families and/or are mutated in sporadic samples. We continue to hunt for additional genes/mutations in families and sporadic samples. Functional studies on potential and identified genes in vitro, ex vivo and in vivo in mice continue to expose mechanisms for predisposition and progression to HM.

2. Diagnostic implementation of NGS for personalised medicineNext generation sequencing has the power to dramatically increase diagnostic test efficiencies, including pricing, and help in personalised medicine for genetic diseases and cancer. We are implementing NGS sequencing tests including panel sequencing for cancers such as lung, melanoma and colorectal, and whole exome sequencing for genetic diseases such as inherited familial cancers.

3. Genetic autopsy of perinatal death: diagnosis and discovery by Whole Genome Sequencing The causes of perinatal death and genetic termination of pregnancy (GTOP) often cannot be established despite autopsy and extensive investigation, often with long term psychological consequences for families. Establishing a cause of perinatal death or congenital abnormalities relies on post-mortem examination, which includes analysis of tissue samples, x-rays, chromosome studies and DNA-based testing. Despite this, the cause is often not identified. The advent of whole genome sequencing (WGS) has provided a powerful new tool for genetic testing. We are implementing WGS analysis to diagnose "unsolved" perinatal death and GTOP cases, which, together with functional assays, will also provide insights into the genetic mechanisms that underlie them.

External engagement & recognition

Collaborations

External engagement & recognition

Collaborations

Organisation	Country
Adaptive Biotechnologies	UNITED STATES
Alfred Health	AUSTRALIA
Auckland City Hospital	NEW ZEALAND
Auckland District Health Board	NEW ZEALAND
Austin Hospital	AUSTRALIA
Australasian Leukaemia and Lymphoma Group	AUSTRALIA
Australian Genomics Health Alliance	AUSTRALIA
Australian National University	AUSTRALIA
Baylor College of Medicine	UNITED STATES
Boston Children's Hospital	UNITED STATES
Canberra Hospital	AUSTRALIA
Cardiff University	UNITED KINGDOM
Cengiz Gökcek Obstetrics and Children's Hospital	TURKEY
Central Adelaide Local Health Network Incorporated	AUSTRALIA
Centre Hospitalier Universitaire Vaudois	SWITZERLAND
Charite - Medical University of Berlin	GERMANY
Child Health Research Institute	AUSTRALIA
Chinese Academy of Sciences	CHINA
David Geffen School of Medicine at UCLA	UNITED STATES
de Duve Institute	BELGIUM
Eastern Health	AUSTRALIA
Ecole Polytechnique	FRANCE
Emory University	UNITED STATES
Erasmus University Rotterdam	NETHERLANDS
Federal University of Alagoas	BRAZIL
Flinders Centre for Innovation in Cancer	AUSTRALIA
Flinders Medical Centre	AUSTRALIA
Flinders University	AUSTRALIA
French National Centre for Scientific Research	FRANCE
Garvan Institute of Medical Research	AUSTRALIA
German Cancer Research Center	GERMANY
Griffith University	AUSTRALIA
Hacettepe University	TURKEY
Hamamatsu University	JAPAN
Hannover Medical School	GERMANY
Hanson Centre for Cancer Research	AUSTRALIA
Hanson Institute	AUSTRALIA
Harvard University	UNITED STATES
Haukeland University Hospital	NORWAY
Heinrich-Heine University Medical Center	GERMANY
Helsinki University Hospital	FINLAND
Hofstra University School of Medicine	UNITED STATES
Hospital Sant Joan de Deu	SPAIN
Hpital Necker-Enfants Malades	FRANCE
Hudson Institute of Medical Research	AUSTRALIA
Humanitas University	ITALY
Imago Biosciences	UNITED STATES
Institut Curie	FRANCE
Institute of Medical and Veterinary Science	AUSTRALIA
Institute of Myology	FRANCE
Istituto Superiore di Sanita	ITALY
Jarrett St Specialist Centre	AUSTRALIA
Joslin Diabetes Center	UNITED STATES
Justus Liebig University Giessen	GERMANY
Karolinska Institute	SWEDEN
Karolinska University Hospital	SWEDEN
Kolling Institute of Medical Research	AUSTRALIA
La Trobe University	AUSTRALIA
Lady Cilento Children's Hospital	AUSTRALIA
Lausanne University Hospital	FRANCE
Leibniz Institute for Analytical Sciences - ISAS	GERMANY
Leiden University	NETHERLANDS
London Health Sciences Centre	CANADA
Lyell McEwin Hospital	AUSTRALIA
Macquarie University	AUSTRALIA
Mater Adult Hospital	AUSTRALIA
Max-Delbruck-Centrum fur Molekulare Medizin	GERMANY
Mayo Clinic	UNITED STATES
Medical University of Innsbruck	AUSTRIA
Meijo University	JAPAN
Memorial Sloan Kettering Cancer Centre	UNITED STATES
Memorial Sloan-Kettering Cancer Center	UNITED STATES
Mental Health Research Institute	UNITED STATES
MLL Münchner Leukämielabor GmbH	GERMANY
Moffitt Cancer Center	UNITED STATES
Monash University	AUSTRALIA
Murdoch Childrens Research Institute	AUSTRALIA
National Cancer Institute	UNITED STATES
National Human Genome Research Institute	UNITED STATES
National Institute for Biological Standards and Control	UNITED KINGDOM
National Institute of Environmental Health Sciences	UNITED STATES
National Institute of Health and Medical Research	FRANCE
National Institutes of Health	UNITED STATES
Northwestern University Feinberg School of Medicine	UNITED STATES
Novartis Institutes for Biomedical Research	UNITED STATES
Novartis Pharmaceuticals	UNITED STATES
NSW Health	AUSTRALIA
Paul Sabatier University	FRANCE
Perkin Elmer Pty Ltd	UNITED STATES
Peter MacCallum Cancer Centre	AUSTRALIA
Poznan University of Medical Sciences	POLAND
Princess Maxima Center for Pediatric Oncology	NETHERLANDS
Princess Máxima Center for Pediatric Oncology	NETHERLANDS
QIMR Berghofer Medical Research Institute	AUSTRALIA
Queen Mary University of London	UNITED KINGDOM
Queensland Institute of Medical Research	AUSTRALIA
Radboud Institute for Molecular Life Sciences	NETHERLANDS
Roswell Park Cancer Institute	UNITED STATES
Royal Adelaide Hospital	AUSTRALIA
Royal Alexandra Hospital for Children	AUSTRALIA
Royal Brisbane & Women's Hospital	AUSTRALIA
Royal Brisbane and Women's Hospital	AUSTRALIA
Royal Children’sHospital	AUSTRALIA
Royal Children's Hospital	UNITED KINGDOM
Royal College of Pathologists of Australasia	AUSTRALIA
Royal Melbourne Hospital	AUSTRALIA
Royal North Shore Hospital	AUSTRALIA
Royal Prince Alfred Hospital	AUSTRALIA
SA Pathology	AUSTRALIA
San Diego Institute for Allergy and Immunology	UNITED STATES
Second Military Medical University	CHINA
Semmelweis University	HUNGARY
Sequenom	UNITED STATES
Shanghai Center for Bioinformation Technology	CHINA
Shanghai Jiao Tong University	CHINA
Sir Charles Gardiner Hospital	AUSTRALIA
South Australian Health and Medical and Research Institute (SAHMRI)	AUSTRALIA
Southern University Of Science And Technology	CHINA
St Vincent's Hospital	AUSTRALIA
St. Jude Children's Research Hospital	UNITED STATES
Sydney Children’s Hospitals Network	AUSTRALIA
Sydney Children's Hospital	AUSTRALIA
Sydney Local Health District	AUSTRALIA
Tartu University	FINLAND
Texas Children's Hospital	UNITED STATES
The Children's Hospital of Philadelphia	UNITED STATES
The Hospital for Sick Children	CANADA
The Queen Elizabeth Hospital	AUSTRALIA
Tokyo Medical University	JAPAN
Tokyo Metropolitan Children’s Medical Center	JAPAN
Tokyo Metropolitan Children's Medical Center	JAPAN
University Hospital for Children and Adolescents	GERMANY
University Hospital Geneva	SWITZERLAND
University Libre Bruxelles	BELGIUM
University Medicine Göttingen	GERMANY
University of Adelaide	AUSTRALIA
University of Auckland	NEW ZEALAND
University of Basel	SWITZERLAND
University of Belgrade	SERBIA
University of Beograd	SERBIA
University of Bergen	NORWAY
University of Birmingham	UNITED KINGDOM
University of California	UNITED STATES
University of California San Francisco	UNITED STATES
University of Cambridge	UNITED KINGDOM
University of Chicago	UNITED STATES
University of Colorado Denver	UNITED STATES
University of Erlangen-Nuremberg	GERMANY
University of Exeter	UNITED KINGDOM
University of Geneva	SWITZERLAND
University of Glasgow	UNITED KINGDOM
University of Heidelberg	GERMANY
University of Helsinki	FINLAND
University of Lausanne	SWITZERLAND
University of Lubeck	GERMANY
University of Manchester	UNITED KINGDOM
University of Melbourne	AUSTRALIA
University of Minnesota, Twin Cities	UNITED STATES
University of Montpellier	FRANCE
University of Montreal	CANADA
University of Munich	GERMANY
University of Nantes	FRANCE
University of New South Wales	AUSTRALIA
University of Oxford	UNITED KINGDOM
University of Paris	FRANCE
University of Pennsylvania	UNITED STATES
University of Perugia	ITALY
University of Pittsburgh	UNITED STATES
University of Putra	MALAYSIA
University of Queensland	AUSTRALIA
University of South Australia	AUSTRALIA
University of Sydney	AUSTRALIA
University of Tartu	ESTONIA
University of Texas	UNITED STATES
University of Texas MD Anderson Cancer Centre	UNITED STATES
University of Toronto	CANADA
University of Toulouse - Jean Jaures	FRANCE
University of Utah	UNITED STATES
University of Washington	UNITED STATES
University of Western Australia	AUSTRALIA
University ofLeuven	BELGIUM
Uppsala University	SWEDEN
Vanderbilt University Medical Centre	UNITED STATES
Victor Chang Cardiac Research Institute	AUSTRALIA
Waitemata District Health Board	NEW ZEALAND
Walter and Eliza Hall Institute of Medical Research	AUSTRALIA
Walter Eliza Hall Institute of Medical Research	AUSTRALIA
Warsaw University of Technology	POLAND
Washington University in St Louis	UNITED STATES
Weill Cornell Medical College	UNITED STATES
Weizmann Institute of Science	ISRAEL
Western University	CANADA
Women's and Children's Hospital	AUSTRALIA

External engagement & recognition

Engagement/recognition	Year
Project Grant National Health and Medical Research Council (NHMRC)	2016
Fellow Australian Academy of Health and Medical Science	2015

Teaching & student supervision

Teaching strengths

Genetics
Genomics
Molecular Pathology

Teaching & student supervision

Research degree supervision

Supervisions from 2010 shown

Thesis title	Student status
109455 - Examining the impact of environmental stressors and mutant microenvironment on disease development in models of inherited predisposition to haematological malignancies	Current
Understanding how lymphatic vessel identity is programmed during development and disease	Current
Discovery of novel germline genes in familial haematological malignancies	Completed
Precision medicine in chronic myeloid leukaemia	Completed
The genomic autopsy: diagnosis and discovery through exome and genome sequencing	Completed
Transcriptional control of cellular identity in the lymphatic vasculature	Completed

Professor Hamish Scott

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Centre for Cancer Biology

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Journal Articles

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