Sheetal Kumar

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

Huijun Wang, Aytaj Humbatova, Yuanxiang Liu et al. · The American Journal of Human Genetics · 2020 · 56 citations · Full text

Transcriptional Regulation, Systems Biology, Signal Transduction +9

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 · 34 citations · Full text

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

Hellen Lesmann, Alexander Hustinx, Shahida Moosa et al. · 2023 · 22 citations · Full text

Biometrics, Genetic Epidemiology, Human Face +18

Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals

F. Buket Basmanav, Nicole Cesarato, Sheetal Kumar et al. · JAMA Dermatology · 2022 · 15 citations · Full text

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. · 2023 · 15 citations · Full text

Artificial Intelligence, Engineering, Machine Learning +21