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Bobby P.C. Koeleman

Bobby P.C. Koeleman

D-Index & Metrics

Genetics

D-Index
74
Citations
23338
World Ranking
1956
National Ranking
68

Overview

Bobby P.C. Koeleman is affiliated with Utrecht University in the Netherlands and has a significant body of research primarily focused on genetics, neurodevelopmental disorders, and epilepsy. Their work spans the fields of Biochemistry, Genetics and Molecular Biology, and Medicine, with substantial contributions to subfields such as Genetics, Psychiatry and Mental Health, Molecular Biology, Pediatrics, Perinatology and Child Health, and Physiology.

Their research topics include:

  • Genomics and Rare Diseases
  • Genetics and Neurodevelopmental Disorders
  • Epilepsy Research and Treatment
  • Pharmacological Effects and Toxicity Studies
  • CRISPR and Genetic Engineering
  • Genomic Variations and Chromosomal Abnormalities
  • Autism Spectrum Disorder Research

Koeleman has published in various scientific venues, with frequent contributions to:

  • Epilepsia
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Genetics in Medicine
  • Epilepsy & Behavior
  • Genome Medicine

Collaborations feature prominently in Koeleman's career. Significant coauthors include:

  • Sanjay M. Sisodiya (14 publications)
  • Roland Krause (13 publications)
  • Gianpiero L. Cavalleri (11 publications)
  • Pasquale Striano (10 publications)
  • Federico Zara (10 publications)

Among Koeleman's recent published papers are:

  • "Climate change and epilepsy: Insights from clinical and basic science studies," 2021, Epilepsy & Behavior
  • "Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders," 2020, Genome Medicine
  • "NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns," 2020, Genetics in Medicine
  • "Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition," 2023, Brain
  • "NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome," 2020, PLoS ONE

Best Publications

  • Mutation in blood coagulation factor V associated with resistance to activated protein C

    Rogier M. Bertina;Bobby P. C. Koeleman;Ted Koster;Frits R. Rosendaal

  • Analysis of shared heritability in common disorders of the brain

    Verneri Anttila;Verneri Anttila;Brendan Bulik-Sullivan;Brendan Bulik-Sullivan;Hilary K. Finucane;Raymond K. Walters;Raymond K. Walters

  • 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

    Ingo Helbig;Heather C. Mefford;Andrew J. Sharp;Michel Guipponi

  • Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families.

    Bobby P.C. Koeleman;Pieter H. Reitsma;C.F. Allaart;Rogier M. Bertina

  • Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

    Carolien G F De Kovel;Holger Trucks;Ingo Helbig;Heather C. Mefford

  • Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

    Bassel Abou-Khalil;Pauls Auce;Andreja Avbersek;Melanie Bahlo

  • Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus

    Timothy R.D.J. Radstake;Olga Y Gorlova;Blanca Rueda;Jose Ezequiel Martin

  • Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect

    Alienke J Monsuur;Paul I W de Bakker;Paul I W de Bakker;Behrooz Z Alizadeh;Alexandra Zhernakova

  • Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia

    T G W Letteboer;J J Mager;R J Snijder;B P C Koeleman

  • The phenotypic spectrum of SCN8A encephalopathy

    Jan Larsen;Gemma L Carvill;Elena Gardella;Gerhard Kluger

  • KIR in Type 1 Diabetes: Disparate Distribution of Activating and Inhibitory Natural Killer Cell Receptors in Patients Versus HLA-Matched Control Subjects

    Arno R. van der Slik;Bobby P.C. Koeleman;Willem Verduijn;G. Jan Bruining

  • Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

    Richard Anney;A. Avbersek;D. Balding;L. Baum

  • Novel association in chromosome 4q27 region with rheumatoid arthritis and confirmation of type 1 diabetes point to a general risk locus for autoimmune diseases.

    Alexandra Zhernakova;Behrooz Z. Alizadeh;Behrooz Z. Alizadeh;Marianna Bevova;Miek A. van Leeuwen

  • De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

    Arvid Suls;Johanna A. Jaehn;Angela Kecskés;Yvonne Weber

  • De novo mutations in HCN1 cause early infantile epileptic encephalopathy

    Caroline Nava;Carine Dalle;Agnès Rastetter;Pasquale Striano

  • Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy

    Olga Gorlova;Jose Ezequiel Martin;Blanca Rueda;Bobby P C Koeleman

  • Immunochip Analysis Identifies Multiple Susceptibility Loci for Systemic Sclerosis

    Maureen D. Mayes;Lara Bossini-Castillo;Olga Gorlova;José Ezequiel Martin

  • Association of Human Connexin40 Gene Polymorphisms With Atrial Vulnerability as a Risk Factor for Idiopathic Atrial Fibrillation

    Mehran Firouzi;Hemanth Ramanna;Bart Kok;Habo J. Jongsma

  • Factor V Leiden: an additional risk factor for thrombosis in protein S deficient families?

    B. P. C. Koeleman;D. Van Rumpt;K. Hamulyak;P. H. Reitsma

  • Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

    Silke Appenzeller;Rudi Balling;Nina Barisic;Stéphanie Baulac

Frequent Co-Authors

Ingo Helbig
Ingo Helbig Children's Hospital of Philadelphia
Timothy R D J Radstake
Timothy R D J Radstake Utrecht University
Rikke S. Møller
Rikke S. Møller University of Southern Denmark
Sarah Weckhuysen
Sarah Weckhuysen University of Antwerp
Pasquale Striano
Pasquale Striano University of Genoa
Behrooz Z. Alizadeh
Behrooz Z. Alizadeh University Medical Center Groningen
Cisca Wijmenga
Cisca Wijmenga University Medical Center Groningen
Christel Depienne
Christel Depienne Essen University Hospital
Federico Zara
Federico Zara University of Genoa
Aarno Palotie
Aarno Palotie University of Helsinki

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