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Human Genome Variation|April 13, 2026
Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspotSheetal Kumar, Sohail Ahmed, Pietro Incardona, et al.
Journal of Medicinal Chemistry|August 27, 2025
Knowledge and Structure-Based Drug Design of 15-PGDH InhibitorsLeela S Dodda, Sebastien Campos, David Ciccone, et al.
Circulation|July 12, 2013
Mitochondrial DNA damage can promote atherosclerosis independently of reactive oxygen species through effects on smooth muscle cells and monocytes and correlates with higher-risk plaques in humansEmma Yu, Patrick A Calvert, John R Mercer, et al.
American Journal of Human Genetics|June 5, 2020
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP SyndromeHuijun Wang, Aytaj Humbatova, Yuanxiang Liu, et al.
JAMA Dermatology|August 31, 2022
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 IndividualsF Buket Basmanav, Nicole Cesarato, Sheetal Kumar, et al.
Research Square|June 21, 2024
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesHellen Lesmann, Alexander Hustinx, Shahida Moosa, et al.
Medrxiv : the Preprint Server for Health Sciences|July 28, 2023
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseasesHellen Lesmann, Alexander Hustinx, Shahida Moosa, et al.
Nature Genetics|July 22, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findingsAxel Schmidt, Magdalena Danyel, Kathrin Grundmann, et al.
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