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Scopus Author ID: 57189381961

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Employment (2)

University of South Australia: Adelaide, South Australia, AU

2019-01-14 to present | Research Associate (Centre for Cancer Biology)
Employment
Source: Self-asserted source
Thuong Thi Ha

The University of Adelaide: Adelaide, South Australia, AU

2017-10-03 to 2019-01-04 | Research Associate (Paediatrics and Reproductive Health)
Employment
Source: Self-asserted source
Thuong Thi Ha

Education and qualifications (1)

The University of Adelaide: Adelaide, SA, AU

2014-03-09 to 2018-06-26 | PhD in Sciences (Biological Sciences )
Qualification
Source: Self-asserted source
Thuong Thi Ha

Professional activities (4)

Human Genetics Society of Australasia: Alexandria, New South Wales , AU

2020-01-31 to present
Membership
Source: Self-asserted source
Thuong Thi Ha

Perinatal Society of Australia and New Zealand: Mornington, Victoria, AU

2020-01-31 to present
Membership
Source: Self-asserted source
Thuong Thi Ha

European Society of Human Genetics: Vienna, Vienna, AT

2019-01-31 to present
Membership
Source: Self-asserted source
Thuong Thi Ha

American Society of Human Genetics: Bethesda, Maryland, US

2019-01-31 to present
Membership
Source: Self-asserted source
Thuong Thi Ha

Works (15)

Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Nature Medicine
2024-01 | Journal article
DOI: 10.1038/s41591-023-02487-1
Contributors: Alicia B. Byrne; Peer Arts; Thuong T. Ha; Karin S. Kassahn; Lynn S. Pais; Anne O’Donnell-Luria; François Aguet; Harindra M. Arachchi; Christina A. Austin-Tse; Larry Babb et al.
Source: check_circle
Crossref

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Nature Medicine
2023-01 | Journal article
DOI: 10.1038/s41591-022-02142-1
Contributors: Alicia B. Byrne; Peer Arts; Thuong T. Ha; Karin S. Kassahn; Lynn S. Pais; Anne O’Donnell-Luria; François Aguet; Harindra M. Arachchi; Christina A. Austin-Tse; Larry Babb et al.
Source: check_circle
Crossref

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 : EJHG
2022-07-28 | Journal article
DOI: 10.1038/s41431-022-01159-x
PMID: 35902696
Contributors: Thuong Thi Ha; Yıldız Bölükbaşı E; Karolak JA; Szafranski P; Gambin T; Matsika A; McManus S; Hamish S Scott; Peer Arts; Ha T et al.
Source: Self-asserted source
Thuong Thi Ha

The clinical and genetic features of hereditary pancreatitis in South Australia.

The Medical journal of Australia
2022-05-16 | Journal article
DOI: 10.5694/mja2.51517
PMID: 35578795
PMC: PMC9321757
Contributors: Thuong Thi Ha; Wu D; Bampton TJ; Scott HS; Brown A; Kassahn K; Drogemuller C; De Sousa SM; Moore D; Ha T et al.
Source: Self-asserted source
Thuong Thi Ha

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.

Genetics in medicine : official journal of the American College of Medical Genetics
2021-11-30 | Journal article
DOI: 10.1016/j.gim.2021.09.001
PMID: 34906502
Contributors: Thuong Thi Ha; Bournazos AM; Riley LG; Bommireddipalli S; Ades L; Akesson LS; Al-Shinnag M; Alexander SI; Archibald AD; Balasubramaniam S et al.
Source: Self-asserted source
Thuong Thi Ha

The RUNX1 Database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.

Haematologica
2021-07-08 | Journal article
DOI: 10.3324/haematol.2021.278762
PMID: 34233450
Source: Self-asserted source
Thuong Thi Ha

Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders.

Human molecular genetics
2021-06-25 | Journal article
DOI: 10.1093/hmg/ddab160
PMID: 34170319
Source: Self-asserted source
Thuong Thi Ha

Different types of disease-causing non-coding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.

Human mutation
2021-04-13 | Journal article
DOI: 10.1002/humu.24207
PMID: 33847015
Source: Self-asserted source
Thuong Thi Ha

Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia.

BMC medical genomics
2021-02-27 | Journal article
DOI: 10.1186/s12920-021-00911-4
PMID: 33639934
PMC: PMC7916305
Source: Self-asserted source
Thuong Thi Ha

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
2020-03-06 | Journal article
DOI: 10.1002/ajmg.a.61541
PMID: 32141698
Source: Self-asserted source
Thuong Thi Ha
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RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.

Blood advances
2020-03-01 | Journal article
DOI: 10.1182/bloodadvances.2019000901
PMID: 32208489
Source: Self-asserted source
Thuong Thi Ha

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.

Human mutation
2019-07-29 | Journal article
DOI: 10.1002/humu.23836
PMID: 31184401
Source: Self-asserted source
Thuong Thi Ha

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations

European journal of medical genetics
2017 | Journal article
DOI: 10.1016/j.ejmg.2017.06.002
Source: Self-asserted source
Thuong Thi Ha

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts

American journal of medical genetics. Part A
2016 | Journal article
DOI: 10.1002/ajmg.a.37527
Source: Self-asserted source
Thuong Thi Ha

A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability

European journal of human genetics : EJHG
2016 | Journal article
DOI: 10.1038/ejhg.2016.46
Source: Self-asserted source
Thuong Thi Ha
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