Cor W. R. J. Cremers

Overview

Best Publications

• SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma

  Huai Xiang Hao;Oleh Khalimonchuk;Margit Schraders;Noah Dephoure

  834
  Citations

• Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

  FE Karet;KE Finberg;RD Nelson;A Nayir

  808
  Citations

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

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

  701
  Citations

• Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa

  James D. Eudy;Michael D. Weston;Su Fang Yao;Denise M. Hoover

  453
  Citations

• Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

  Yaoqin Gong;Deborah Krakow;Deborah Krakow;Jose Marcelino;Douglas Wilkin

  390
  Citations

• Consensus statements on the BAHA system: where do we stand at present?

  Ad F. M. Snik;Emmanuel A. M. Mylanus;David W. Proops;John F. Wolfaardt

  375
  Citations

• Occupational noise, smoking, and a high body mass index are risk factors for age-related hearing impairment and moderate alcohol consumption is protective: a European population-based multicenter study.

  Erik Fransen;Vedat Topsakal;Jan Jaap Hendrickx;Lut Van Laer

  346
  Citations

• Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

  Irina N. Bespalova;Irina N. Bespalova;Guy Van Camp;Steven J.H. Bom;David J. Brown

  328
  Citations

• SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma

  Jean Pierre Bayley;Henricus P.M. Kunst;Alberto Cascon;Maria Lourdes Sampietro

  323
  Citations

• Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).

  W. T. Mcguirt;S. D. Prasad;A. J. Griffith;H. P. M. Kunst

  321
  Citations

• Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome Type II

  Erwin van Wijk;Ronald J.E. Pennings;Heleen te Brinke;Annemarie Claassen

  271
  Citations

• CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

  L.M. Astuto;J.M. Bork;M.D. Weston;J.W. Askew

  255
  Citations

• The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1

  Erwin van Wijk;Bert van der Zwaag;Theo Peters;Ulrike Zimmermann

  253
  Citations

• GRM7 variants confer susceptibility to age-related hearing impairment

  Rick A. Friedman;Lut Van Laer;Matthew J. Huentelman;Sonal S. Sheth

  247
  Citations

• Mutations in different components of FGF signaling in LADD syndrome

  E. Rohmann;H.G. Brunner;H. Kayserili;O. Uyguner

  244
  Citations

• Phenotypic manifestations of branchiootorenal syndrome

  Achih Chen;Mary Francis;Li Ni;Cor W. R. J. Cremers

  242
  Citations

• Bone-anchored hearing aids in unilateral inner ear deafness: an evaluation of audiometric and patient outcome measurements.

  Myrthe K. S. Hol;Arjan J. Bosman;Ad F. M. Snik;Emmanuel A. M. Mylanus

  226
  Citations

• Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.

  Kim Cryns;Theru A. Sivakumaran;Jody M.W. Van den Ouweland;Ronald J.E. Pennings

  224
  Citations

• Genomic structure and identification of novel mutations in Usherin, the gene responsible for Usher syndrome type IIa.

  M. D. Weston;J. D. Eudy;S. Fujita;S.-F. Yao

  218
  Citations

• Assessment of more than 1,000 implanted percutaneous bone conduction devices: skin reactions and implant survival.

  Catharina A. J. Dun;Hubert T. Faber;Maarten J. F. de Wolf;Emmanuel A. M. Mylanus

  198
  Citations