Doctor of Philosophy The Australian National University
Master in Biochemistry and Molceular Biology Sun Yat-Sen University
Bachelor of Management Huazhong University of Science and Technology
Excludes commercial-in-confidence projects.
Research since 2008 is shown below. To see earlier years visit Scopus
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.
Open access 1 1 4
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 4 5 2
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
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 1 1 59
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 3 2 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.
2 1 1
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.
8 7 3
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 1 1 3
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.
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 10 10 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 14 12 1
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.
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 63 54
External engagement & recognition
|Auckland District Health Board||NEW ZEALAND|
|Australian National University||AUSTRALIA|
|Cardiff University||UNITED KINGDOM|
|Cengiz Gökcek Obstetrics and Children's Hospital||TURKEY|
|Flinders Medical Centre||AUSTRALIA|
|Imago Biosciences||UNITED STATES|
|Jarrett St Specialist Centre||AUSTRALIA|
|Lady Cilento Children's Hospital||AUSTRALIA|
|Murdoch Childrens Research Institute||AUSTRALIA|
|Queen Elizabeth Hospital||AUSTRALIA|
|Queensland Institute of Medical Research||AUSTRALIA|
|Royal Adelaide Hospital||AUSTRALIA|
|Royal Melbourne Hospital||AUSTRALIA|
|South Australian Health and Medical Research Institute (SAHMRI)||AUSTRALIA|
|Tokyo Metropolitan Children’s Medical Center||JAPAN|
|Tokyo Metropolitan Children's Medical Center||JAPAN|
|University of Adelaide||AUSTRALIA|
|University of Auckland||NEW ZEALAND|
|University of Bergen||NORWAY|
|University of Melbourne||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|