Thuong Ha

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

Anna Brown, Peer Arts, Catherine Carmichael et al. · Blood Advances · 2020 · 153 citations · Full text

Life Sciences, Genetics, Hematology +17

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

Sebastian Lunke, Sophie E. Bouffler, Chirag Patel et al. · Nature Medicine · 2023 · 141 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 104 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17

Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

Angélique Quartier, Jérémie Courraud, Thuong Ha et al. · Human Mutation · 2019 · 66 citations

Life Sciences, Genetics, Molecular Genetics +17

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

Alicia B. Byrne, Peer Arts, Thuong Ha et al. · Nature Medicine · 2023 · 63 citations · Full text

Medicine, Genetics, Molecular Genetics +17