Jean Tori Pantel

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

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann et al. · Nature Genetics · 2024 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

Jean Tori Pantel, Nurulhuda Hajjir, Magdalena Danyel et al. · Journal of Medical Internet Research · 2020 · 39 citations · Full text

Computing, Computer Science, Genetics +14