Mustafa Tekin

Research.com Recognitions

• The Science Academy Society of Turkey - Bilim Akademisi Biochemical and Molacular Genetics
• The Science Academy Society of Turkey - Bilim Akademisi Biochemical and Molacular Genetics

Overview

Best Publications

• Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy

  Paulina Navon Elkan;Sarah B. Pierce;Reeval Segel;Reeval Segel;Tom Walsh

  720
  Citations

• GJB2 mutations and degree of hearing loss: a multicenter study.

  Rikkert L. Snoeckx;Patrick L M Huygen;Delphine Feldmann;Sandrine Marlin

  701
  Citations

• The promise of whole-exome sequencing in medical genetics.

  Bahareh Rabbani;Mustafa Tekin;Nejat Mahdieh

  630
  Citations

• Digestion of Chromatin in Apoptotic Cell Microparticles Prevents Autoimmunity

  Vanja Sisirak;Benjamin Sally;Benjamin Sally;Vivette D'Agati;Wilnelly Martinez-Ortiz

  441
  Citations

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

  Hyung Goo Kim;Ingo Kurth;Fei Lan;Irene Meliciani

  380
  Citations

• Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.

  Jeffrey E. Ming;Michelle E. Kaupas;Erich Roessler;Han G. Brunner

  300
  Citations

• Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48

  Saima Riazuddin;Inna A Belyantseva;Arnaud P J Giese;Kwanghyuk Lee

  283
  Citations

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

  Asli Sirmaci;Michail Spiliopoulos;Francesco Brancati;Francesco Brancati;Francesco Brancati;Eric Powell

  263
  Citations

• Genotype–phenotype correlation in a large group of Turkish patients with familial Mediterranean fever: evidence for mutation-independent amyloidosis

  F. Yalçınkaya;N. Çakar;M. Mısırlıoğlu;N. Tümer

  242
  Citations

• Advances in hereditary deafness

  Mustafa Tekin;Kathleen S Arnos;Arti Pandya

  235
  Citations

• WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

  Hyung Goo Kim;Hyung Goo Kim;Hyung Goo Kim;Jang Won Ahn;Ingo Kurth;Reinhard Ullmann

  215
  Citations

• MLL2 and KDM6A mutations in patients with Kabuki syndrome.

  Noriko Miyake;Eriko Koshimizu;Nobuhiko Okamoto;Seiji Mizuno

  210
  Citations

• Effects on vocabulary acquisition of presenting new words in semantic sets versus semantically unrelated sets

  İsmail Hakkı Erten;Mustafa Tekin

  208
  Citations

• 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;Duygu Duman

  198
  Citations

• Mutation of the ATP-gated P2X2 receptor leads to progressive hearing loss and increased susceptibility to noise

  Denise Yan;Yan Zhu;Tom Walsh;Dinghua Xie

  180
  Citations

• Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness

  Xue Zhong Liu;Xia Juan Xia;Joe Adams;Zheng Yi Chen

  173
  Citations

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

  Oscar Diaz-Horta;Duygu Duman;Joseph Foster;Aslı Sırmacı

  168
  Citations

• Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

  Vishwanathan Hucthagowder;Eva Morava;Uwe Kornak;Dirk J. Lefeber

  166
  Citations

• Autosomal recessive nonsyndromic deafness genes: a review.

  Duygu Duman;Mustafa Tekin

  166
  Citations

• Ankrd11 is a chromatin regulator involved in autism that is essential for neural development

  Denis Gallagher;Anastassia Voronova;Mark A. Zander;Gonzalo I. Cancino

  163
  Citations