Thuong T Ha

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts

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

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.

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

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

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.

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

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

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

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

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.

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.

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.