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 56 Citations 15,227 120 World Ranking 2670 National Ranking 332

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • Genetics

Jeremy Schwartzentruber mostly deals with Genetics, Mutation, Exome, Cancer research and Exome sequencing. His work on Family medicine expands to the thematically related Genetics. Many of his research projects under Mutation are closely connected to Fanconi anemia, complementation group C with Fanconi anemia, complementation group C, tying the diverse disciplines of science together.

His work carried out in the field of Exome brings together such families of science as Bioinformatics, Genome, Whole genome sequencing, Genomics and DNA sequencing. His studies deal with areas such as Fusion gene, DNA methylation, Breast cancer and IDH1 as well as Cancer research. Jeremy Schwartzentruber combines subjects such as Sanger sequencing, Genetic heterogeneity and NAD+ kinase with his study of Exome sequencing.

His most cited work include:

  • Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma (1542 citations)
  • Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma. (1139 citations)
  • K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas (553 citations)

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

Jeremy Schwartzentruber mainly investigates Genetics, Exome sequencing, Mutation, Gene and Exome. His Exome sequencing research incorporates themes from Missense mutation, Bioinformatics, Compound heterozygosity, Sanger sequencing and Genetic heterogeneity. The study incorporates disciplines such as Molecular biology, Cancer research, Epigenetics and Histone in addition to Mutation.

In his research, Glioma is intimately related to IDH1, which falls under the overarching field of Cancer research. He works mostly in the field of Gene, limiting it down to topics relating to Cell biology and, in certain cases, Cell migration and Immune system. His Exome study deals with Joubert syndrome intersecting with Ciliogenesis and Ciliopathy.

He most often published in these fields:

  • Genetics (52.89%)
  • Exome sequencing (33.88%)
  • Mutation (21.49%)

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

  • Gene (28.10%)
  • Genetics (52.89%)
  • Genome-wide association study (16.53%)

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

Gene, Genetics, Genome-wide association study, Computational biology and Genetic association are his primary areas of study. His Gene study frequently links to related topics such as Molecular biology. His Genetics study is mostly concerned with Microcephaly, Locus, Exome sequencing, Loss function and Missense mutation.

Jeremy Schwartzentruber has included themes like Mutation, Frameshift mutation, Neurodegeneration, Leukodystrophy and Nonsense mutation in his Microcephaly study. His Genetic association study combines topics from a wide range of disciplines, such as Imputation, Allele, Disease and Whole genome sequencing. His research investigates the connection between Chromatin and topics such as Cell culture that intersect with issues in Cell biology.

Between 2016 and 2021, his most popular works were:

  • Molecular and functional variation in iPSC-derived sensory neurons. (108 citations)
  • Molecular and functional variation in iPSC-derived sensory neurons. (108 citations)
  • Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits (63 citations)

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

  • Gene
  • Mutation
  • Genetics

Jeremy Schwartzentruber focuses on Quantitative trait locus, Whole genome sequencing, Cell biology, Genetic association and Genetics. His Whole genome sequencing research is multidisciplinary, incorporating perspectives in Imputation and Computational biology. His studies examine the connections between Cell biology and genetics, as well as such issues in Cell culture, with regards to Gene.

His biological study deals with issues like Allele, which deal with fields such as Genome-wide association study, Odds ratio, Population genetics, Disease and Locus. His Genetics research is multidisciplinary, incorporating elements of Molecular biology, Tyrosine and Enzyme. Jeremy Schwartzentruber works mostly in the field of Bioinformatics, limiting it down to concerns involving Pediatrics and, occasionally, 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

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

Jeremy Schwartzentruber;Andrey Korshunov;Xiao Yang Liu;David T.W. Jones.
Nature (2012)

2224 Citations

Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma.

Dominik Sturm;Hendrik Witt;Hendrik Witt;Volker Hovestadt;Dong Anh Khuong-Quang.
Cancer Cell (2012)

1657 Citations

K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas.

Dong Anh Khuong-Quang;Pawel Buczkowicz;Patricia Rakopoulos;Xiao Yang Liu.
Acta Neuropathologica (2012)

795 Citations

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

David T W Jones;Barbara Hutter;Natalie Jäger;Andrey Korshunov;Andrey Korshunov.
Nature Genetics (2013)

699 Citations

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean Baptiste Rivière;Ghayda M. Mirzaa;Brian J. O'Roak;Margaret Beddaoui.
Nature Genetics (2012)

639 Citations

What can exome sequencing do for you

Jacek Majewski;Jeremy Schwartzentruber;Emilie Lalonde;Alexandre Montpetit.
Journal of Medical Genetics (2011)

464 Citations

Clonal selection drives genetic divergence of metastatic medulloblastoma

Xiaochong Wu;Paul A. Northcott;Adrian Dubuc;Adam J. Dupuy.
Nature (2012)

442 Citations

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Catherine A. Brownstein;Alan H. Beggs;Nils Homer;Barry Merriman.
(2014)

426 Citations

Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations.

Xiao-Yang Liu;Noha Gerges;Andrey Korshunov;Nesrin Sabha.
Acta Neuropathologica (2012)

424 Citations

Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma

Adam M. Fontebasso;Simon Papillon-Cavanagh;Jeremy Schwartzentruber;Hamid Nikbakht.
Nature Genetics (2014)

376 Citations

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