Guy A. Rouleau

Top papers

• Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

  D.R. Rosen, Teepu Siddique, David T. Patterson, et al.·1993·Nature
  ↗ 7,019
• Mutations in the <i>FUS/TLS</i> Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

  Thomas J. Kwiatkowski, Daryl A. Bosco, Aurélie Leclerc, et al.·2009·Science
  ↗ 2,546
• Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours

  Olivier Delattre, Jessica Zucman‐Rossi, Béatrice Plougastel-Douglas, et al.·1992·Nature
  ↗ 1,893
• TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

  Edor Kabashi, Paul N. Valdmanis, Patrick A. Dion, et al.·2008·Nature Genetics
  ↗ 1,522
• Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

  Guy A. Rouleau, P. Merel, Mohini Lutchman, et al.·1993·Nature
  ↗ 1,415
• Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

  Stefan-M. Pulst, Alex Nechiporuk, Tamilla Nechiporuk, et al.·1996·Nature Genetics
  ↗ 1,125
• Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

  Elizabeth T. Cirulli, Brittany N. Lasseigne, Slavé Petrovski, et al.·2015·Science
  ↗ 977OA
• Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

  Bernard Brais, Jean‐Pierre Bouchard, Ya‐Gang Xie, et al.·1998·Nature Genetics
  ↗ 797OA
• Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions

  Juliane Winkelmann, Barbara Schormair, Peter Lichtner, et al.·2007·Nature Genetics
  ↗ 700
• A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

  Shinji Hadano, Collette K. Hand, Hitoshi Osuga, et al.·2001·Nature Genetics
  ↗ 676
• Von Hippel–Lindau disease maps to the region of chromosome 3 associated with renal cell carcinoma

  Bernd R. Seizinger, Guy A. Rouleau, Laurie J. Ozelius, et al.·1988·Nature
  ↗ 668
• Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments

  Claire S. Leblond, Caroline Nava, Anne Polge, et al.·2014·PLoS Genetics
  ↗ 659OA