Sheetal Kumar

University of Bonn — Germany

Biochemistry, Genetics and Molecular Biology · Life Sciences

5h-index150citations11works9.52yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(3), Genomics and Rare Diseases(3), RNA Research and Splicing(2), Hair Growth and Disorders(2), Skin and Cellular Biology Research(2)

Publications11 total

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Nature Genetics·2025Open Access
Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic <scp><i>BMPR1B</i></scp> Variant: Postaxial Polydactyly as a Novel Clinical Finding
Molecular Genetics & Genomic Medicine·2024Open Access
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Nature Genetics·2024· 34 citedOpen Access
A nonsense variant in <i>KRT31</i> is associated with autosomal dominant monilethrix
British Journal of Dermatology·2024· 4 cited
Altered Notch signalling in Dowling-Degos disease: a transcriptomic insight into disease pathogenesis
British Journal of Dermatology·2023· 1 citedOpen Access
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
2023· 22 citedOpen Access
Next-generation phenotyping integrated in a national framework for patients with ultra-rare disorders improves genetic diagnostics and yields new molecular findings
2023· 15 citedOpen Access
Identification of a Novel <i>PLCD1</i> Variant in a Danish Family with Hereditary Leukonychia.
PubMed·2023
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals
JAMA Dermatology·2022· 15 citedOpen Access
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
The American Journal of Human Genetics·2020· 56 citedOpen Access
Identification of a founder mutation in <i> <scp>KRT</scp> 14 </i> associated with Naegeli–Franceschetti–Jadassohn syndrome
British Journal of Dermatology·2020· 3 citedOpen Access

Frequent Co-authors

Regina C. Betz(9), Sugirthan Sivalingam(5), Alexej Knaus(5), Magdalena Danyel(4), Theresa Brunet(4), Hannah Klinkhammer(4), Shahida Moosa(4), Luisa Averdunk(4), Felix Boschann(4), Henrike L. Sczakiel(4), Sarina Schwartzmann(4), Martina Kreiß(4), Hellen Lesmann(4), Nicole Cesarato(3), Axel Schmidt(3), Kathrin Grundmann(3), Tzung‐Chien Hsieh(3), Hartmut Engels(3), Sophia Peters(3), Martin A. Mensah(3)