Sarina Schwartzmann

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

Biallelic truncating variants in <i>ATP9A</i> cause a novel neurodevelopmental disorder involving postnatal microcephaly and failure to thrive

Guido Vogt, Sarah Verheyen, Sarina Schwartzmann et al. · Journal of Medical Genetics · 2021 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

Hellen Lesmann, Alexander Hustinx, Shahida Moosa et al. · medRxiv · 2023 · 24 citations · Full text

Life Sciences, Bioinformatics, Genetics +14

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

Axel Schmidt, Magdalena Danyel, Kathrin Grundmann et al. · medRxiv · 2023 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

<i>GLI3</i> variants causing isolated polysyndactyly are not restricted to the protein's C‐terminal third

Henrike L. Sczakiel, Wiebke Hülsemann, Manuel Holtgrewe et al. · Clinical Genetics · 2021 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13