N. Cesarato

Cole disease due to a novel pathogenic variant in the ENPP1 gene

R. Betz, A. Nanda, A. AlLafi, 2022, Journal of the European Academy of Dermatology and Venereology : JEADV.

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

R. Grimalt, C. Fischer, O. Birk, 2022, JAMA dermatology.

Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes

M. Geyer, F. B. Basmanav, R. Betz, 2021, American journal of medical genetics. Part A.

Apparent Missense Mutation in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing

S. Basit, R. Betz, M. Naeem, 2020, Acta dermato-venereologica.

Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis

O. Sarig, E. Sprecher, A. Paller, 2020, Genetics in Medicine.

Additional causal SNRPE mutations in hereditary hypotrichosis simplex

A. Patiño-García, R. Betz, B. Blaumeiser, 2021, The British journal of dermatology.

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

K. Grzeschik, A. Buness, F. Kortüm, 2020, American journal of human genetics.