Thuong T. Ha

Adelaide, SA, Australia

Last Updated: 09/26/2026

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Found 22 publications

Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.

Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses.

Journal: Human genomics

Published: September 10, 2025

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships.

Journal: Genetics in medicine open

Published: March 19, 2025

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

Journal: medRxiv : the preprint server for health sciences

Published: November 28, 2024

Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.

Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.

Journal: Blood advances

Published: December 04, 2023

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

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

Journal: Nature medicine

Published: July 10, 2023

Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

Journal: Genes

Published: June 20, 2023

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.

Journal: Blood advances

Published: February 23, 2023

Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis.

Expanding the phenotype of DNMT3A as a cause a congenital myopathy with rhabdomyolysis.

Journal: Neuromuscular disorders : NMD

Published: December 17, 2022

Integrated multi-omics for rapid rare disease diagnosis on a national scale.

Integrated multi-omics for rapid rare disease diagnosis on a national scale.

Journal: Nature medicine

Published: December 15, 2022

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.

Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: November 25, 2022

Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant.

Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant.

Journal: European journal of human genetics : EJHG

Published: February 11, 2022

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

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

Journal: Nature medicine

Published: December 29, 2021

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Last Updated: 09/26/2026