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Genetics

D-Index
89
Citations
44787
World Ranking
1097
National Ranking
37

Overview

Gert-Jan B. van Ommen was affiliated with Leiden University Medical Center in the Netherlands. Their research focused primarily on genetics within the broader field of biochemistry, genetics, and molecular biology. Specifically, van Ommen contributed to studies in genetics, with an emphasis on genomics and rare diseases, genomic variations and chromosomal abnormalities, and genetics related to neurodevelopmental disorders.

The scientist's body of work included publications in established venues such as the Journal of Molecular Diagnostics and the European Journal of Human Genetics.

  • Journal of Molecular Diagnostics
  • European Journal of Human Genetics

Among their recent papers were:

  • "Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity," published in 2020 in the Journal of Molecular Diagnostics
  • "Editorial: Cutting Covid no slack," published in 2020 in the European Journal of Human Genetics

Collaboration was part of their research efforts, working frequently with several co-authors. These included Francesco Muntoni, Leslie Matalonga, Steven Laurie, Anastasios Papakonstantinou, and Davide Piscia.

  • Francesco Muntoni
  • Leslie Matalonga
  • Steven Laurie
  • Anastasios Papakonstantinou
  • Davide Piscia

Best Publications

  • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

    Annemiske J.M.H. Verkerk;Maura Pieretti;James S. Sutcliffe;Ying-Hui Fu

  • Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

    Elizabeth K. Speliotes;Elizabeth K. Speliotes;Cristen J. Willer;Sonja I. Berndt;Keri L. Monda

  • Familial Hemiplegic Migraine and Episodic Ataxia Type-2 Are Caused by Mutations in the Ca2+ Channel Gene CACNL1A4

    Roel A. Ophoff;Gisela M. Terwindt;Monique N. Vergouwe;Ronald Van Eijk

  • Hundreds of variants clustered in genomic loci and biological pathways affect human height

    Hana Lango Allen;Karol Estrada;Guillaume Lettre;Sonja I. Berndt

  • Transcriptome and genome sequencing uncovers functional variation in humans

    Tuuli Lappalainen;Michael Sammeth;Marc R. Friedländer;Peter A. C. ‘t Hoen

  • Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

    Fred Petrif;Rachel H. Giles;Hans G. Dauwerse;Jasper J. Saris

  • Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

    Iris M. Heid;Anne U. Jackson;Joshua C. Randall;Tthomas W. Winkler

  • Local Dystrophin Restoration with Antisense Oligonucleotide PRO051

    Judith C. van Deutekom;Anneke A. Janson;Ieke B. Ginjaar;Wendy S. Frankhuizen

  • Systemic administration of PRO051 in Duchenne's muscular dystrophy.

    Nathalie M Goemans;Mar Tulinius;Johanna T van den Akker;Brigitte E Burm

  • Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platforms

    Peter A. C. 't Hoen;Yavuz Ariyurek;Helene H. Thygesen;Erno Vreugdenhil

  • Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.

    Annemieke Aartsma-Rus;Judith C. T. Van Deutekom;Ivo F. Fokkema;Gert-Jan B. Van Ommen

  • A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

    Richard J. L. F. Lemmers;Patrick J. van der Vliet;Rinse Klooster;Sabrina Sacconi

  • Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy.

    Cisca Wijmenga;Jane E. Hewitt;Lodewijk A. Sandkuijl;Lorraine N. Clark

  • Phenotypically Concordant and Discordant Monozygotic Twins Display Different DNA Copy-Number-Variation Profiles

    Carl E.G. Bruder;Arkadiusz Piotrowski;Antoinet A.C.J. Gijsbers;Robin Andersson

  • Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations.

    Annemieke Aartsma-Rus;Ivo Fokkema;Jan Verschuuren;Ieke Ginjaar

  • Whole-genome sequence variation, population structure and demographic history of the Dutch population

    Laurent C. Francioli;Androniki Menelaou;Sara L. Pulit;Freerk van Dijk

  • FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit

    Judith C.T.Van Deutekom;Cisca Wljmenga;Esther A.E.Van Tlenhoven;Anne-Marie Gruter

  • Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease

    Jeroen H. Roelfsema;Stefan J. White;Yavuz Ariyürek;Deborah Bartholdi

  • Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells

    Judith C.T. van Deutekom;Mattie Bremmer-Bout;Anneke A.M. Janson;Ieke B. Ginjaar

  • Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy

    Petra G M van Overveld;Richard J F L Lemmers;Lodewijk A Sandkuijl;Leo Enthoven

Frequent Co-Authors

Johan T. den Dunnen
Johan T. den Dunnen Leiden University Medical Center
Peter A. C. 't Hoen
Peter A. C. 't Hoen Radboud University
Annemieke Aartsma-Rus
Annemieke Aartsma-Rus Leiden University Medical Center
Markus Perola
Markus Perola Finnish Institute for Health and Welfare
Dorret I. Boomsma
Dorret I. Boomsma Vrije Universiteit Amsterdam
P. Eline Slagboom
P. Eline Slagboom Leiden University Medical Center
Marian Beekman
Marian Beekman Leiden University Medical Center
Gonneke Willemsen
Gonneke Willemsen Vrije Universiteit Amsterdam
Rune R. Frants
Rune R. Frants Leiden University

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