Excludes commercial-in-confidence projects.
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
Biological characterisation and therapeutic options for high risk, DDX41 mutated, haematological malignancies, Cancer Council SA - Beat Cancer, 01/01/2018 - 31/12/2018
Research since 2008 is shown below. To see earlier years visit ORCID
Open access indicates that an output is open access.
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.
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 6
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.
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, online, pp. 1-13.
Open access 1
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 1
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 58
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 1 1
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.
Singhal, D, Wee, LYA, Kutyna, MM, Chhetri, R, Schreiber, AW, Feng, J, Branford, S, D'Andrea, RJ & Hiwase, D and 18 other authors 2019, 'The mutational burden of therapy-related myeloid neoplasms is similar to primary myelodysplastic syndrome but has a distinctive distribution', Leukemia, vol. 33, no.12, pp. 2842-2853.
4 4 3
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.
24 28 9
Pillman, KA, Phillips, CA, Roslan, S, Toubia, J, Dredge, BK, Bert, AG, Lumb, R, Neumann, DP, Li, X, Conn, SJ, Liu, D, Bracken, CP, Lawrence, DM, Schreiber, AW, Khew-Goodall, Y, Goodall, GJ & Gregory, PA and 4 other authors 2018, 'miR‐200/375 control epithelial plasticity‐associated alternative splicing by repressing the RNA‐binding protein Quaking', The EMBO Journal, vol. 37, no. 13, article no. e99016, pp. 1-20.
Open access 15 19 15
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.
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 7 7 7
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 9 9 15
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 9 8 1
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.
Pishas, K I, Neuhaus, SJ, Clayer, MT, Schreiber, AW, Lawrence, DM, Perugini, M, Whitfield, RJ, Farshid, G, Manavis, J, Chyrssidis, S, Mayo, BJ, Haycox, RC, Ho, K, Brown, MP, D'Andrea, RJ, Evdokiou, A, Thomas, DM, Desai, J, Callen, DF & Neilsen, PM 2013, 'Nutlin-3a efficacy in sarcoma predicted by transcriptomic and epigenetic profiling', Cancer Research, vol. 74, no. 3, pp. 1-11.
Open access 13 13 1
External engagement & recognition
|Auckland District Health Board||NEW ZEALAND|
|Australian National University||AUSTRALIA|
|Cardiff University||UNITED KINGDOM|
|Flinders Medical Centre||AUSTRALIA|
|Lady Cilento Children's Hospital||AUSTRALIA|
|Murdoch Childrens Research Institute||AUSTRALIA|
|Peter MacCallum Cancer Centre||AUSTRALIA|
|Queen Elizabeth Hospital||AUSTRALIA|
|Royal Adelaide Hospital||AUSTRALIA|
|Royal Melbourne Hospital||AUSTRALIA|
|South Australian Health and Medical Research Institute (SAHMRI)||AUSTRALIA|
|University of Adelaide||AUSTRALIA|
|University of Auckland||NEW ZEALAND|
|University of Bergen||NORWAY|
|University of Chicago||UNITED STATES|
|University of Melbourne||AUSTRALIA|
|University of New South Wales||AUSTRALIA|
|University of Oxford||UNITED KINGDOM|
|University of Queensland||AUSTRALIA|
|University of South Australia||AUSTRALIA|
|Waitemata District Health Board||NEW ZEALAND|
|Women's and Children's Hospital||AUSTRALIA|
Supervisions from 2010 shown
|Thesis title||Student status|
|Interactive visualization tools for cancer genomics||Current|
|Predicting Protein Subcellular Location by Fusing Multi-Source Information||Current|
|Understanding the genetics of Focal Epilepsies through the identification of the spectrum of variants and their combinatorial effects by whole genome sequencing||Current|