Dr Thuong Ha

Adjunct Research Associate Centre for Cancer Biology

City West Campus ()
tel +61 8 830 29118

email Thuong.Ha@unisa.edu.au

Research Degree Supervisor

Research

Research focus

Genetics
Clinical Sciences
Medical and Health Sciences
Biological Sciences
Engineering

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 or Scopus

Open access indicates that an output is open access.

Journal Articles

Year	Output
2025	Broeren, EC, Gitau, VN, Byrne, AB, Ajuyah, P, Ha, T & Coffey, AJ and 35 other authors 2025, 'The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships', vol. 3, article no. 103429, pp. 1-12. Open access
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 2 10
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 9 9
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 31 32 76
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. 6
2023	Ha, TT, Burgess, R, Newman, M, Moey, C & Corbett, MA and 17 other authors 2023, 'Aicardi Syndrome Is a genetically heterogeneous disorder', Genes, vol. 14, no. 8, article no. 1565, pp. 1-19. Open access 2 1
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 24 20 3
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 72 73
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. 4 4
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 6 5 1
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. 14 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 10 10
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 113 106 5
2017	Corbett, MA, Turner, SJ, Gardner, A, Silver, J, Stankovich, J, Leventer, RJ, Derry, CP, Carroll, R, Ha, T, Scheffer, IE, Bahlo, M, Jackson, GD, Mackey, DA, Berkovic, SF & Gecz, J 2017, 'Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations', European Journal of Medical Genetics, vol. 60, no. 8, pp 437-443. 11 10
2016	Ha, TT, Sadleir, LG, Mandelstam, SA, Paterson, SJ, Scheffer, IE, Gecz, J & Corbett, MA 2016, 'A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts', American Journal of Medical Genetics Part A, vol. 170, no. 4, pp 1059-1063. 16 16
2016	Kumar, R, Ha, T, Pham, D, Shaw, M, Mangelsdorf, M, Friend, KL, Hobson, L, Turner, G, Boyle, J, Field, M, Hackett, A, Corbett, M & Gecz, J 2016, 'A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability', European Journal of Human Genetics, vol 24, no. 11, pp. 1612-1616. Open access 8 9

External engagement & recognition

Collaborations

External engagement & recognition

Collaborations

Organisation	Country
Australian Genomics Health Alliance	AUSTRALIA
Baylor College of Medicine	UNITED STATES
Broad Institute	UNITED STATES
Charite - Medical University of Berlin	GERMANY
Hacettepe University	TÜRKIYE
Karolinska Institute	SWEDEN
Karolinska University Hospital	SWEDEN
London Health Sciences Centre	CANADA
Mater Adult Hospital	AUSTRALIA
Max-Delbruck-Centrum fur Molekulare Medizin	GERMANY
Murdoch Childrens Research Institute	AUSTRALIA
National Human Genome Research Institute	UNITED STATES
Peter MacCallum Cancer Centre	AUSTRALIA
Poznan University of Medical Sciences	POLAND
Radboud Institute for Molecular Life Sciences	NETHERLANDS
Royal Adelaide Hospital	AUSTRALIA
Royal Brisbane & Women's Hospital	AUSTRALIA
Royal Brisbane and Women's Hospital	AUSTRALIA
Royal Children's Hospital, Victoria	AUSTRALIA
SA Pathology	AUSTRALIA
Sydney Children’s Hospitals Network	AUSTRALIA
University Libre Bruxelles	BELGIUM
University of Adelaide	AUSTRALIA
University of Chicago	UNITED STATES
University of Melbourne	AUSTRALIA
University of Newcastle	AUSTRALIA
University of Otago	NEW ZEALAND
University of Queensland	AUSTRALIA
University of South Australia	AUSTRALIA
University of Western Australia	AUSTRALIA
Walter and Eliza Hall Institute of Medical Research	AUSTRALIA
Warsaw University of Technology	POLAND
Western University	CANADA
Women's and Children's Hospital	AUSTRALIA

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Dr Thuong Ha

About me

About me

Centre for Cancer Biology

About me

Professional Associations

Experience

Qualifications

Research

Research focus

Projects

Outputs

Journal Articles

External engagement & recognition

Collaborations

Collaborations

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