D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Genetics and Molecular Biology D-index 68 Citations 25,040 206 World Ranking 1640 National Ranking 43

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Genetics

Garth A. Nicholson mostly deals with Genetics, Amyotrophic lateral sclerosis, Mutation, Gene and Missense mutation. Garth A. Nicholson has included themes like C9orf72, Frontotemporal dementia, Genome-wide association study and RNA-Binding Protein FUS in his Amyotrophic lateral sclerosis study. His work deals with themes such as C9orf72 Protein and TARDBP, which intersect with C9orf72.

He works mostly in the field of TARDBP, limiting it down to topics relating to TAR DNA-Binding Protein 43 and, in certain cases, Neurodegeneration. The Mutation study combines topics in areas such as Molecular biology and Glycine—tRNA ligase. His work in Gene addresses issues such as DNA, which are connected to fields such as RNA and Juvenile amyotrophic lateral sclerosis.

His most cited work include:

  • TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis (1926 citations)
  • TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis (1926 citations)
  • Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6 (1861 citations)

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

The scientist’s investigation covers issues in Genetics, Gene, Amyotrophic lateral sclerosis, Mutation and Pathology. All of his Genetics and Locus, Genetic linkage, Haplotype, Exome sequencing and Missense mutation investigations are sub-components of the entire Genetics study. The concepts of his Locus study are interwoven with issues in X chromosome and Gene mapping.

His Genetic linkage research integrates issues from Genetic marker, Chromosome, Linkage and Neuroscience. His Gene research is multidisciplinary, relying on both Molecular biology and Disease. He combines subjects such as C9orf72, Frontotemporal dementia and Genome-wide association study with his study of Amyotrophic lateral sclerosis.

He most often published in these fields:

  • Genetics (69.64%)
  • Gene (35.46%)
  • Amyotrophic lateral sclerosis (33.67%)

What were the highlights of his more recent work (between 2013-2021)?

  • Genetics (69.64%)
  • Amyotrophic lateral sclerosis (33.67%)
  • Gene (35.46%)

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

Genetics, Amyotrophic lateral sclerosis, Gene, Mutation and Exome sequencing are his primary areas of study. His study in Disease extends to Genetics with its themes. His Amyotrophic lateral sclerosis study integrates concerns from other disciplines, such as Missense mutation, Genome-wide association study, DNA methylation and C9orf72.

His C9orf72 research is multidisciplinary, relying on both Asymptomatic and Outpatient clinic. In his research on the topic of Mutation, Soma and Downregulation and upregulation is strongly related with Pathogenesis. His Exome sequencing research is multidisciplinary, incorporating elements of Age of onset, Compound heterozygosity and Myopathy.

Between 2013 and 2021, his most popular works were:

  • Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis (289 citations)
  • Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis (289 citations)
  • Genome-wide Analyses Identify KIF5A as a Novel ALS Gene (215 citations)

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

  • Gene
  • Mutation
  • Internal medicine

His scientific interests lie mostly in Genetics, Amyotrophic lateral sclerosis, Exome sequencing, Exome and Mutation. His studies in Gene, Locus, Phenotype and Hereditary spastic paraplegia are all subfields of Genetics research. The study incorporates disciplines such as Missense mutation, Genome-wide association study, Case-control study and Gene mutation in addition to Amyotrophic lateral sclerosis.

In his study, C9orf72 is inextricably linked to TARDBP, which falls within the broad field of Gene mutation. The Exome study combines topics in areas such as Metabolic myopathy and Bethlem myopathy. His research integrates issues of Arginine, Ornithine and Candidate gene in his study of Mutation.

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

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

Jemeen Sreedharan;Ian P. Blair;Vineeta B. Tripathi;Xun Hu.
Science (2008)

2429 Citations

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

Caroline Vance;Boris Rogelj;Tibor Hortobágyi;Kurt J. De Vos.
Science (2009)

2391 Citations

DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

Ying Zhang Chen;Craig L. Bennett;Huy M. Huynh;Ian P. Blair.
American Journal of Human Genetics (2004)

873 Citations

Controversies and priorities in amyotrophic lateral sclerosis

Martin R Turner;Orla Hardiman;Michael Benatar;Benjamin R Brooks.
Lancet Neurology (2013)

504 Citations

Mutations in SPTLC1 , encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

Jennifer L. Dawkins;Dennis J. Hulme;Sonal B. Brahmbhatt;Michaela Auer-Grumbach.
Nature Genetics (2001)

425 Citations

Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis

Steve Vucic;Garth A. Nicholson;Matthew C. Kiernan.
Brain (2008)

381 Citations

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

Stephan Züchner;Stephan Züchner;Maher Noureddine;Marina Kennerson;Kristien Verhoeven.
Nature Genetics (2005)

376 Citations

A yeast functional screen predicts new candidate ALS disease genes

Julien Couthouis;Michael P. Hart;James Shorter;Mariely DeJesus-Hernandez.
Proceedings of the National Academy of Sciences of the United States of America (2011)

370 Citations

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.

L. J. Valentijn;P. A. Bolhuis;I. Zorn;J. E. Hoogendijk.
Nature Genetics (1992)

368 Citations

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

Wouter van Rheenen;Aleksey Shatunov;Annelot M. Dekker;Russell L. McLaughlin.
Nature Genetics (2016)

360 Citations

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