Robert Vincent
4 Papers
Robert Vincent is an academic researcher. The author has contributed to research in topics: Single-nucleotide polymorphism & Otosclerosis. The author has an hindex of 4, co-authored 4 publications.
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Papers
The coding polymorphism T263I in TGF-β1 is associated with otosclerosis in two independent populations
Melissa Thys,Isabelle Schrauwen,Kathleen Vanderstraeten,Katrien Janssens,Nele Dieltjens,Kris Van Den Bogaert,Erik Fransen,Wenjie Chen,Megan Ealy,Mireille Claustres,Cor R W J Cremers,Ingeborg Dhooge,Frank Declau,J. Claes,Paul Van de Heyning,Robert Vincent,Thomas Somers,Erwin Offeciers,Richard J.H. Smith,Guy Van Camp +19 more
TL;DR: It is concluded that TGF-beta1 influences the susceptibility for otosclerosis, and that the I263 variant is protective against the disease.
Detection of rare nonsynonymous variants in TGFB1 in otosclerosis patients.
Melissa Thys,Isabelle Schrauwen,Kathleen Vanderstraeten,Nele Dieltjens,Erik Fransen,Megan Ealy,C.W.R.J. Cremers,P. Van de Heyning,Robert Vincent,E.E. Offeciers,Richard J.H. Smith,G. Van Camp +11 more
TL;DR: DNA sequence analysis of the exons and intron‐exon boundaries of TGFB1 suggests that multiple rare amino acid changing variants in TGF‐β1 may contribute to susceptibility to otosclerosis.
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A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis.
Isabelle Schrauwen,Megan Ealy,Matthew J. Huentelman,Melissa Thys,Nils Homer,Nils Homer,Kathleen Vanderstraeten,Erik Fransen,Jason J. Corneveaux,David Craig,Mireille Claustres,C.W.R.J. Cremers,Ingeborg Dhooge,Paul Van de Heyning,Robert Vincent,Erwin Offeciers,Richard J.H. Smith,Guy Van Camp +17 more
TL;DR: Evidence that implicates RELN in the pathogenesis of otosclerosis is provided, using a case-control discovery group to complete a genome-wide association study with 555,000 single-nucleotide polymorphisms (SNPs), utilizing pooled DNA samples.
Association of bone morphogenetic proteins with otosclerosis.
Isabelle Schrauwen,Melissa Thys,Kathleen Vanderstraeten,Erik Fransen,Nele Dieltjens,Jeroen R. Huyghe,Megan Ealy,Mireille Claustres,Cor R W J Cremers,Ingeborg Dhooge,Frank Declau,Paul Van de Heyning,Robert Vincent,Thomas Somers,Erwin Offeciers,Richard J.H. Smith,Guy Van Camp +16 more
TL;DR: Significant association in both populations with BMP2 and BMP4 is found, implicating these two genes in the pathogenesis of otosclerosis.