Thuong T. Ha

发表

Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability

M. Shaw, J. Gécz, C. Schwartz, 2021, Human mutation.

RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.

Anna L. Brown, Paul P. S. Wang, S. Fröhling, 2020, Blood advances.

Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1‐related syndrome

Paul P. S. Wang, H. Scott, A. Schreiber, 2020, American journal of medical genetics. Part A.

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

Robert J. Weatheritt, Stephanie L. White, N. Brown, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

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

Paul P. S. Wang, H. Scott, A. Schreiber, 2021, BMC Medical Genomics.

The clinical and genetic features of hereditary pancreatitis in South Australia

L. Palmer, K. Kassahn, H. Scott, 2022, Medical Journal of Australia.

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

Anna L. Brown, S. Fröhling, G. Natsoulis, 2021, Haematologica.

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

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2023, Nature Medicine.

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

G. Ravenscroft, N. Laing, K. Kassahn, 2023, Neuromuscular Disorders.

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

S. Sandaradura, K. Kassahn, Meredith Wilson, 2023, Nature Medicine.

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.

I. Scheffer, J. Gécz, G. Jackson, 2017, European journal of medical genetics.

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

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2022, European Journal of Human Genetics.

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

K. Friend, M. Shaw, J. Gécz, 2016, European Journal of Human Genetics.

Aicardi Syndrome Is a Genetically Heterogeneous Disorder

I. Scheffer, J. Gécz, L. Richards, 2023, Genes.

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts

I. Scheffer, J. Gécz, S. Mandelstam, 2016, American journal of medical genetics. Part A.

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

R. Stevenson, F. McKenzie, A. Nordgren, 2023, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Expanding the Phenotype of NUP85 Mutations beyond Nephrotic Syndrome to Primary Autosomal Recessive Microcephaly and Seckel Syndrome Spectrum Disorders

V. Tarabykin, B. Fahrenkrog, B. Kamien, 2021, Neuropediatrics.

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

P. Arts, P. Venugopal, M. Jongmans, 2024, Blood advances.

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

S. Fröhling, M. Cazzola, J. Klco, 2023, Blood advances.