Mustafa Tekin

Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy

Paulina Navon Elkan, Sarah B. Pierce, Reeval Segel et al. · New England Journal of Medicine · 2014 · 706 citations

Life Sciences, Genetics, Molecular Genetics +17

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann et al. · The American Journal of Human Genetics · 2005 · 559 citations · Full text

Medicine, Genetics, Otolaryngology +12

Digestion of Chromatin in Apoptotic Cell Microparticles Prevents Autoimmunity

Vanja Sisirak, Benjamin Sally, Vivette D. D’Agati et al. · Cell · 2016 · 444 citations · Full text

Life Sciences, Cell Biology, Immunology +10

Mutations in CHD7, Encoding a Chromatin-Remodeling Protein, Cause Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

Hyung‐Goo Kim, Ingo Kurth, Fei Lan et al. · The American Journal of Human Genetics · 2008 · 332 citations · Full text

Medicine, Endocrinology, Genetics +15

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

Michail Spiliopoulos, Francesco Brancati, Eric Powell et al. · The American Journal of Human Genetics · 2011 · 262 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15