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
Medicine D-index 72 Citations 27,752 238 World Ranking 16133 National Ranking 501
Genetics D-index 66 Citations 24,986 196 World Ranking 1806 National Ranking 83

Research.com Recognitions

Awards & Achievements

2015 - Member of Academia Europaea

Member of the European Molecular Biology Organization (EMBO)

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Genetics
  • Mutation

Thomas Bourgeron focuses on Autism, Genetics, Neuroscience, Copy-number variation and Autism spectrum disorder. His studies deal with areas such as SHANK2, Genetic heterogeneity and Intellectual disability as well as Autism. His work is connected to Gene, Mutation, Single-nucleotide polymorphism, Allele and CNTNAP2, as a part of Genetics.

His Neuroscience research includes elements of Disease and Fragile X syndrome. His Copy-number variation study incorporates themes from Genome-wide association study, Genetic variation and Genetic architecture. In his research, Male gender, Medical genetics, Clinical significance and Hypotonia is intimately related to Penetrance, which falls under the overarching field of Autism spectrum disorder.

His most cited work include:

  • Functional impact of global rare copy number variation in autism spectrum disorders (1592 citations)
  • Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. (1441 citations)
  • Mapping autism risk loci using genetic linkage and chromosomal rearrangements (1161 citations)

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

Thomas Bourgeron mainly investigates Autism, Genetics, Gene, Autism spectrum disorder and Neuroscience. His Autism study combines topics from a wide range of disciplines, such as Schizophrenia, Genome-wide association study, Intellectual disability and Bioinformatics. His study in Copy-number variation, Mutation, Allele, Haploinsufficiency and Candidate gene are all subfields of Genetics.

His work carried out in the field of Gene brings together such families of science as Evolutionary biology and Human brain. His Autism spectrum disorder research includes themes of Penetrance, Spectrum disorder, Pediatrics and Cohort. The study incorporates disciplines such as Genetic heterogeneity, Epigenetics of autism, SHANK2 and Induced pluripotent stem cell in addition to Neuroscience.

He most often published in these fields:

  • Autism (75.86%)
  • Genetics (54.83%)
  • Gene (25.52%)

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

  • Autism (75.86%)
  • Genetics (54.83%)
  • Gene (25.52%)

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

Thomas Bourgeron spends much of his time researching Autism, Genetics, Gene, Genome and Copy-number variation. Thomas Bourgeron has included themes like Phenotype and Neuroscience in his Autism study. His study in Phenotype is interdisciplinary in nature, drawing from both Mutation and Intellectual disability.

His Gene research is multidisciplinary, incorporating elements of Evolutionary biology and Human brain. His research investigates the connection with Genome and areas like Gene dosage which intersect with concerns in Haploinsufficiency and Intelligence quotient. His Autism spectrum disorder study integrates concerns from other disciplines, such as Schizophrenia, Neuroimaging and Proband.

Between 2018 and 2021, his most popular works were:

  • Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 (39 citations)
  • Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations (29 citations)
  • Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations (29 citations)

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

  • Gene
  • Genetics
  • Mutation

His primary scientific interests are in Autism, Genome-wide association study, Genetics, Autism spectrum disorder and Autistic traits. While working on this project, Thomas Bourgeron studies both Autism and Control participant. Thomas Bourgeron studied Genome-wide association study and Dyslexia that intersect with Comorbidity, Anxiety and Candidate gene.

His Genetics study frequently links to adjacent areas such as Neuron. His Autism spectrum disorder study combines topics in areas such as Phenotype and Proband. The concepts of his Intellectual disability study are interwoven with issues in Exome sequencing, CNTNAP2, SNP array, GRIK2 and Genetic architecture.

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

Functional impact of global rare copy number variation in autism spectrum disorders

Dalila Pinto;Alistair T. Pagnamenta;Lambertus Klei;Richard Anney.
Nature (2010)

2152 Citations

Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.

Stéphane Jamain;Hélène Quach;Catalina Betancur;Maria Råstam.
Nature Genetics (2003)

2044 Citations

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.

Christelle M Durand;Catalina Betancur;Tobias M Boeckers;Juergen Bockmann.
Nature Genetics (2007)

1708 Citations

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

Peter Szatmari;Andrew D. Paterson;Lonnie Zwaigenbaum;Wendy Roberts.
Nature Genetics (2007)

1546 Citations

Biochemical and molecular investigations in respiratory chain deficiencies

P. Rustin;D. Chretien;T. Bourgeron;B. Gérard.
Clinica Chimica Acta (1994)

1387 Citations

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

Dalila Pinto;Elsa Delaby;Elsa Delaby;Elsa Delaby;Daniele Merico;Mafalda Barbosa.
American Journal of Human Genetics (2014)

914 Citations

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

Thomas Bourgeron;Pierre Rustin;Dominique Chretien;Mark Birch-Machin.
Nature Genetics (1995)

854 Citations

A synaptic trek to autism.

Thomas Bourgeron.
Current Opinion in Neurobiology (2009)

671 Citations

A genome-wide scan for common alleles affecting risk for autism

Richard Anney;Lambertus Klei;Dalila Pinto;Regina Regan.
Human Molecular Genetics (2010)

658 Citations

Searching for ways out of the autism maze: genetic, epigenetic and environmental clues

Antonio M. Persico;Thomas Bourgeron.
Trends in Neurosciences (2006)

638 Citations

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