Duygu Duman

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

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

Güney Bademci, Joseph Foster, Nejat Mahdieh et al. · Genetics in Medicine · 2015 · 159 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

Oscar Diaz‐Horta, Duygu Duman, Joseph Foster et al. · PLoS ONE · 2012 · 155 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mannan-Binding Lectin-Associated Serine Protease (MASP)-1 Is Crucial for Lectin Pathway Activation in Human Serum, whereas neither MASP-1 nor MASP-3 Is Required for Alternative Pathway Function

Søren E. Degn, Lisbeth Jensen, Annette G. Hansen et al. · The Journal of Immunology · 2012 · 149 citations

Life Sciences, Immunology, Molecular Biology +14

MASP1 Mutations in Patients with Facial, Umbilical, Coccygeal, and Auditory Findings of Carnevale, Malpuech, OSA, and Michels Syndromes

Tom Walsh, Hatice Akay, Michail Spiliopoulos et al. · The American Journal of Human Genetics · 2010 · 139 citations · Full text

Medicine, Genetics, Otolaryngology +11