Tzung‐Chien Hsieh

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Tzung‐Chien Hsieh, Aviram Bar-Haim, Shahida Moosa et al. · Nature Genetics · 2022 · 208 citations · Full text

Life Sciences, Bioinformatics, Genetics +4

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat et al. · Genome Medicine · 2018 · 88 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

PEDIA: prioritization of exome data by image analysis

Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel et al. · Genetics in Medicine · 2019 · 86 citations · Full text

Life Sciences, Bioinformatics, Genetics +17

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

Felix Marbach, Cecilie F. Rustad, Dejan Đukić et al. · The American Journal of Human Genetics · 2019 · 54 citations · Full text

Medicine, Biomedical Sciences, Endocrinology +2

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome

Gholson J. Lyon, Marall Vedaie, Travis Beisheim et al. · European Journal of Human Genetics · 2023 · 52 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17