H-Index & Metrics Best Publications

H-Index & Metrics

Discipline name H-index Citations Publications World Ranking National Ranking
Genetics and Molecular Biology D-index 131 Citations 62,503 631 World Ranking 119 National Ranking 6

Research.com Recognitions

Awards & Achievements

2016 - Fellow of the Royal Society of Canada Academy of Science

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Genetics

Genetics, Mutation, Gene, Amyotrophic lateral sclerosis and Locus are his primary areas of study. His studies in Genetics integrate themes in fields like Schizophrenia and Autism. He has researched Mutation in several fields, including Degenerative disease, X chromosome and Epilepsy.

The concepts of his Gene study are interwoven with issues in Molecular biology and Bioinformatics. Chromosome 22 is closely connected to Genetic marker in his research, which is encompassed under the umbrella topic of Locus. The Genome-wide association study study combines topics in areas such as Bipolar disorder, Allele, Genetic association and Genetic variation.

His most cited work include:

  • Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. (1871 citations)
  • Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs (1570 citations)
  • Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours (1406 citations)

What are the main themes of his work throughout his whole career to date?

The scientist’s investigation covers issues in Genetics, Gene, Mutation, Disease and Locus. His research combines Amyotrophic lateral sclerosis and Genetics. His Gene research is multidisciplinary, incorporating elements of Molecular biology and Bioinformatics.

His Disease study deals with the bigger picture of Internal medicine. The study incorporates disciplines such as Genetic marker, Haplotype, Genetic linkage and Gene mapping in addition to Locus. His Genome-wide association study research includes elements of Bipolar disorder and Genetic association.

He most often published in these fields:

  • Genetics (71.50%)
  • Gene (33.28%)
  • Mutation (17.29%)

What were the highlights of his more recent work (between 2018-2021)?

  • Genetics (71.50%)
  • Gene (33.28%)
  • Disease (18.94%)

In recent papers he was focusing on the following fields of study:

His scientific interests lie mostly in Genetics, Gene, Disease, Genome-wide association study and Exome sequencing. His Genetics study often links to related topics such as Ataxia. His Gene research incorporates elements of Pathogenesis and Cohort.

His Disease research includes themes of Rapid eye movement sleep and Compound heterozygosity. His Genome-wide association study study combines topics in areas such as Essential tremor, Transcriptome, Dorsolateral prefrontal cortex, LRRK2 and Locus. His study in Exome sequencing is interdisciplinary in nature, drawing from both Age of onset, Schizophrenia, Pediatrics and Candidate gene.

Between 2018 and 2021, his most popular works were:

  • Genome-wide association study identifies 30 loci associated with bipolar disorder (518 citations)
  • Genome-wide association study identifies 30 loci associated with bipolar disorder (518 citations)
  • Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies (353 citations)

In his most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • Internal medicine

His primary areas of investigation include Genetics, Gene, Genome-wide association study, Disease and Exome sequencing. His work carried out in the field of Genetics brings together such families of science as Ataxia and Schizophrenia. As a part of the same scientific study, Guy A. Rouleau usually deals with the Gene, concentrating on Pathogenesis and frequently concerns with Regulation of gene expression, DNA repair, Cag expansion and Machado–Joseph disease.

His Genome-wide association study research incorporates themes from Bipolar disorder, Genetic variation, Genetic association and Locus. His studies deal with areas such as Biobank, Pathological and Linkage disequilibrium as well as Disease. He combines subjects such as TARDBP and Candidate gene with his study of Exome sequencing.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.

T. J. Kwiatkowski;D. A. Bosco;D. A. Bosco;A. L. LeClerc;A. L. LeClerc;E. Tamrazian.
Science (2009)

2231 Citations

Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours

Olivier Delattre;Jessica Zucman;Béatrice Plougastel;Chantal Desmaze.
Nature (1992)

1804 Citations

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

S. Hong Lee;Stephan Ripke;Stephan Ripke;Benjamin M. Neale;Benjamin M. Neale;Stephen V. Faraone.
Nature Genetics (2013)

1708 Citations

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

Edor Kabashi;Paul N Valdmanis;Patrick Dion;Dan Spiegelman.
Nature Genetics (2008)

1545 Citations

Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2

Guy A. Rouleau;Philippe Merel;Mohini Lutchman;Marc Sanson;Marc Sanson.
Nature (1993)

1519 Citations

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2

Stefan M. Pulst;Alex Nechiporuk;Alex Nechiporuk;Tamilla Nechiporuk;Tamilla Nechiporuk;Suzana Gispert.
Nature Genetics (1996)

1161 Citations

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

Brais B;Bouchard Jp;Xie Yg;Rochefort Dl.
Nature Genetics (1998)

854 Citations

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.

Shinji Hadano;Collette K. Hand;Hitoshi Osuga;Yoshiko Yanagisawa.
Nature Genetics (2001)

751 Citations

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

Patrick Cossette;Lidong Liu;Katéri Brisebois;Haiheng Dong;Haiheng Dong.
Nature Genetics (2002)

715 Citations

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Elizabeth T. Cirulli;Brittany N Lasseigne;Slave Petrovski;Peter C Sapp.
Science (2015)

702 Citations

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