Richard Redon

Overview

Best Publications

• Global variation in copy number in the human genome

  Richard Redon;Shumpei Ishikawa;Karen R. Fitch;Lars Feuk

  5326
  Citations

• Origins and functional impact of copy number variation in the human genome

  Donald F. Conrad;Dalila Pinto;Richard Redon;Richard Redon;Lars Feuk;Lars Feuk

  2236
  Citations

• Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes

  Barbara E. Stranger;Matthew S. Forrest;Mark Dunning;Catherine E. Ingle

  2054
  Citations

• Diet and the evolution of human amylase gene copy number variation.

  George H Perry;Nathaniel J. Dominy;Katrina G Claw;Arthur S. Lee

  1832
  Citations

• Copy number variation: New insights in genome diversity

  Jennifer L. Freeman;George H. Perry;Lars Feuk;Richard Redon

  1117
  Citations

• Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

  Nick Craddock;Matthew E. Hurles;Niall Cardin;Richard D. Pearson

  918
  Citations

• Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features

  C Shaw-Smith;R Redon;L Rickman;M Rio

  733
  Citations

• Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death

  Connie R Bezzina;Julien Barc;Yuka Mizusawa;Carol Ann Remme

  550
  Citations

• Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

  Jeanne Amiel;Marlène Rio;Loïc de Pontual;Richard Redon

  397
  Citations

• Array‐based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

  M-L Jacquemont;D Sanlaville;R Redon;O Raoul

  394
  Citations

• Copy number variation and evolution in humans and chimpanzees.

  George H. Perry;Fengtang Yang;Tomas Marques-Bonet;Carly Murphy

  293
  Citations

• Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

  Joshua C Bis;Xueqiu Jian;Brian W Kunkle;Yuning Chen

  258
  Citations

• Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors.

  Mark K Bakker;Rick A A van der Spek;Wouter van Rheenen;Sandrine Morel;Sandrine Morel

  236
  Citations

• A robust statistical method for case-control association testing with copy number variation

  Chris Barnes;Vincent Plagnol;Tomas Fitzgerald;Richard Redon

  222
  Citations

• Genome assembly comparison identifies structural variants in the human genome.

  Razi Khaja;Junjun Zhang;Jeffrey R MacDonald;Yongshu He

  214
  Citations

• Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

  Bertrand Isidor;Pierre Lindenbaum;Pierre Lindenbaum;Olivier Pichon;Stéphane Bézieau

  202
  Citations

• Confirmed rare copy number variants implicate novel genes in schizophrenia

  Gloria W.C. Tam;Louie N. van de Lagemaat;Richard Redon;Karen E. Strathdee

  198
  Citations

• HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy.

  Annalisa Milano;Alexa M.C. Vermeer;Elisabeth M. Lodder;Julien Barc

  197
  Citations

• A Simple Specific Pattern of Chromosomal Aberrations at Early Stages of Head and Neck Squamous Cell Carcinomas: PIK3CA but not p63 Gene as a Likely Target of 3q26-qter Gains

  Richard Redon;Danièle Muller;Krishna Caulee;Kristell Wanherdrick

  179
  Citations

• Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

  Joshua C. Bis;Xueqiu Jian;Brian W. Kunkle;Yuning Chen

  2
  Citations