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The New England Journal of Medicine|February 15, 2019
Variant PADI3 in Central Centrifugal Cicatricial AlopeciaLiron Malki, Ofer Sarig, Maria-Teresa Romano, et al.
The Journal of Investigative Dermatology|April 27, 2012
Follow-up study of the first genome-wide association scan in alopecia areata: IL13 and KIAA0350 as susceptibility loci supported with genome-wide significanceDagny Jagielska, Silke Redler, Felix F Brockschmidt, et al.
Genes|March 29, 2023
Mutational Spectrum of the ABCA12 Gene and Genotype-Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital IchthyosisAlrun Hotz, Julia Kopp, Emmanuelle Bourrat, et al.
American Journal of Human Genetics|November 8, 2018
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis SimplexMaria-Teresa Romano, Aylar Tafazzoli, Maximilian Mattern, et al.
Research Square|February 20, 2025
IL-1 signaling enrichment in inflammatory skin disease loci with higher-risk allele frequencies in African ancestryLam Tsoi, Yumeng Dong, Matthew Patrick, et al.
Annals of Neurology|April 1, 2003
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle diseaseChristian Kubisch, Benedikt G H Schoser, Monika von Düring, et al.
Experimental Dermatology|June 17, 2016
Genomewide analysis of copy number variants in alopecia areata in a Central European cohort reveals association with MCHR2Johannes Fischer, Franziska Degenhardt, Andrea Hofmann, et al.
American Journal of Human Genetics|January 7, 2014
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos diseaseF Buket Basmanav, Ana-Maria Oprisoreanu, Sandra M Pasternack, et al.
Archives of Dermatological Research|December 20, 2013
Investigation of four novel male androgenetic alopecia susceptibility loci: no association with female pattern hair lossRima Nuwaihyd, Silke Redler, Stefanie Heilmann, et al.
The Journal of Investigative Dermatology|October 30, 2017
Genome-Wide MicroRNA Analysis Implicates miR-30b/d in the Etiology of Alopecia AreataAylar Tafazzoli, Andreas J Forstner, David Broadley, et al.
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