Aylar Tafazzoli

Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis

R. Adam, Isabel Spier, Bixiao Zhao et al. · The American Journal of Human Genetics · 2016 · 242 citations · Full text

Somatic Variant, Recessive Subtype, Medicine +10

Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome

F. Buket Basmanav, Laura Cau, Aylar Tafazzoli et al. · The American Journal of Human Genetics · 2016 · 144 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

Damian J. Ralser, F. Buket Basmanav, Aylar Tafazzoli et al. · Journal of Clinical Investigation · 2017 · 88 citations · Full text

Developmental Biology, Autoimmune Disease, Genetic Disorder +13

Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

M. T. Romano, Aylar Tafazzoli, Maximilian Mattern et al. · The American Journal of Human Genetics · 2018 · 76 citations · Full text

Bi-allelic Mutations, Allelic Variant, Mendelian Disorder +8

Genome-Wide MicroRNA Analysis Implicates miR-30b/d in the Etiology of Alopecia Areata

Aylar Tafazzoli, Andreas J. Forstner, David Broadley et al. · Journal of Investigative Dermatology · 2017 · 25 citations

Genome-wide Microrna Analysis, Genetics, Pathology +8