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 D-index 51 Citations 6,576 150 World Ranking 3142 National Ranking 375

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Internal medicine

Genetics, Hyperekplexia, Glycine receptor, Gene and Mutation are his primary areas of study. His studies in Hyperekplexia integrate themes in fields like Missense mutation and Strychnine. His Glycine receptor research includes themes of Mutant and Compound heterozygosity.

His Mutation study combines topics in areas such as Internal medicine, Endocrinology and Hereditary hyperekplexia. His work investigates the relationship between Collybistin and topics such as Alternative splicing that intersect with problems in Dendritic transport. His Glycine transporter study incorporates themes from Postsynaptic potential, Inhibitory postsynaptic potential and Neurotransmission.

His most cited work include:

  • The GDP-GTP Exchange Factor Collybistin: An Essential Determinant of Neuronal Gephyrin Clustering (211 citations)
  • The GDP-GTP Exchange Factor Collybistin: An Essential Determinant of Neuronal Gephyrin Clustering (211 citations)
  • Additional support for schizophrenia linkage on chromosomes 6 and 8: A multicenter study (166 citations)

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

His primary areas of investigation include Genetics, Epilepsy, Hyperekplexia, Glycine receptor and Psychiatry. Mutation, Gene, Phenotype, Missense mutation and Exon are the subjects of his Genetics studies. Mark I. Rees works mostly in the field of Epilepsy, limiting it down to topics relating to Pediatrics and, in certain cases, Retrospective cohort study, Long QT syndrome, Young adult, Anesthesia and Pathology.

His Hyperekplexia study integrates concerns from other disciplines, such as Genotype, Compound heterozygosity and Glycine transporter. While the research belongs to areas of Glycine receptor, Mark I. Rees spends his time largely on the problem of Neuroscience, intersecting his research to questions surrounding Cell biology. The study incorporates disciplines such as Collybistin, Neurotransmission and Brainstem in addition to Gephyrin.

He most often published in these fields:

  • Genetics (53.81%)
  • Epilepsy (29.95%)
  • Hyperekplexia (25.89%)

What were the highlights of his more recent work (between 2016-2021)?

  • Epilepsy (29.95%)
  • Pediatrics (19.80%)
  • Missense mutation (14.21%)

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

Mark I. Rees mostly deals with Epilepsy, Pediatrics, Missense mutation, Retrospective cohort study and Gene. His Epilepsy study combines topics from a wide range of disciplines, such as Phenotype, Genetic variation, Medical diagnosis and Bioinformatics. Mark I. Rees combines subjects such as Hyperekplexia, Epilepsy syndromes and Developmental regression with his study of Bioinformatics.

His Pediatrics research focuses on subjects like Epilepsy surgery, which are linked to Hippocampal sclerosis, Exact test, Young adult and Epidemiology. His Missense mutation research is within the category of Genetics. As part of his studies on Genetics, Mark I. Rees often connects relevant subjects like Polymicrogyria.

Between 2016 and 2021, his most popular works were:

  • Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. (120 citations)
  • Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals. (78 citations)
  • Meningeal inflammation and cortical demyelination in acute multiple sclerosis. (38 citations)

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

  • Gene
  • Mutation
  • Internal medicine

Epilepsy, Genetics, Missense mutation, Epilepsy syndromes and Receptor are his primary areas of study. His work carried out in the field of Epilepsy brings together such families of science as Hospital records, Primary health care, Genetic variation and Exome. The various areas that Mark I. Rees examines in his Genetics study include Family aggregation and Age of onset.

His Epilepsy syndromes research incorporates themes from Generalized epilepsy and Bioinformatics. His work carried out in the field of Receptor brings together such families of science as Mutation, Frameshift mutation, Protein subunit and Mutant. His Mutation study combines topics in areas such as Transport protein, Phenotype, Loss function and GRIN1.

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

The GDP-GTP Exchange Factor Collybistin: An Essential Determinant of Neuronal Gephyrin Clustering

Kirsten Harvey;Ian C Duguid;Melissa J. Alldred;Sarah E. Beatty.
The Journal of Neuroscience (2004)

296 Citations

Additional support for schizophrenia linkage on chromosomes 6 and 8: A multicenter study

Dieter B. Wildenauer;Sibylle G. Schwab;Margot Albus;Joachim Hallmayer.
American Journal of Medical Genetics (1996)

249 Citations

Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease.

Mark I. Rees;Mark I. Rees;Kirsten Harvey;Brian R. Pearce;Seo-Kyung Chung;Seo-Kyung Chung.
Nature Genetics (2006)

241 Citations

The genetics of hyperekplexia: more than startle!

Robert J. Harvey;Maya Topf;Kirsten Harvey;Mark I. Rees;Mark I. Rees.
Trends in Genetics (2008)

207 Citations

An ovine transgenic Huntington's disease model

Jessie C. Jacobsen;C. Simon Bawden;Skye R. Rudiger;Clive J. McLaughlan.
Human Molecular Genetics (2010)

203 Citations

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

Candace T. Myers;Jacinta M. McMahon;Amy L. Schneider;Slavé Petrovski;Slavé Petrovski.
American Journal of Human Genetics (2016)

199 Citations

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

Ravinesh A. Kumar;Daniela T. Pilz;Timothy D. Babatz;Thomas D. Cushion.
Human Molecular Genetics (2010)

195 Citations

A Two-Stage Genome Scan for Schizophrenia Susceptibility Genes in 196 Affected Sibling Pairs

Nigel Melville Williams;M. I. Rees;Peter Alan Holmans;N. Norton.
Human Molecular Genetics (1999)

189 Citations

Functional variants of antioxidant genes in smokers with COPD and in those with normal lung function

R P Young;R Hopkins;P N Black;C Eddy.
Thorax (2006)

188 Citations

Hyperekplexia associated with compound heterozygote mutations in the β-subunit of the human inhibitory glycine receptor (GLRB)

Mark I. Rees;Trevor M. Lewis;John B. J. Kwok;Geert R. Mortier.
Human Molecular Genetics (2002)

185 Citations

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