Sheetal Kumar

Employment

• Universitätsklinikum Bonn Institut für Humangenetik Clinician Scientist

Education

Education history is unavailable.

Projects & Funding

Projects & funding information is unavailable.

Publications (16)

• Morbus Dowling-Degos
  Universitäts- und Landesbibliothek Bonn 2024 DOI: 10.48565/BONNDOC-397
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• A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
  The British journal of dermatology 2024 DOI: 10.1093/bjd/ljae298
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• Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding
  Molecular genetics & genomic medicine 2024 DOI: 10.1002/mgg3.70023
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• Founder Variants in KRT5 and POGLUT1 Are Implicated in Dowling-Degos Disease
  The Journal of investigative dermatology 2024 DOI: 10.1016/j.jid.2023.04.036
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• GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
  Research Square 2024 DOI: 10.21203/rs.3.rs-4438861/v1
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• Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
  Nature genetics 2024 DOI: 10.1038/s41588-024-01836-1
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• Proposing GLMN, encoding glomulin, as a novel gene for Dowling-Degos disease
  The British journal of dermatology 2024 DOI: 10.1093/bjd/ljae418
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• Identification of a Novel PLCD1 Variant in a Danish Family with Hereditary Leukonychia.
  Skinmed 2023
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• Altered Notch signalling in Dowling-Degos disease: a transcriptomic insight into disease pathogenesis
  The British journal of dermatology 2023 DOI: 10.1093/bjd/ljad306
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• GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
  medRxiv 2023 DOI: 10.1101/2023.06.06.23290887
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