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Christian Gilissen

Christian Gilissen

D-Index & Metrics

Genetics

D-Index
91
Citations
31362
World Ranking
1033
National Ranking
34

Overview

Christian Gilissen is affiliated with Radboud University in the Netherlands and has contributed extensively to the fields of biochemistry, genetics, and molecular biology. Their research focuses primarily on genetics and molecular biology, with additional work related to cancer research, immunology, and pathology and forensic medicine.

The scientist's research addresses a range of topics, including:

  • Genomics and Rare Diseases
  • Genomic variations and chromosomal abnormalities
  • Genetics and Neurodevelopmental Disorders
  • Cancer Genomics and Diagnostics
  • Retinal Development and Disorders
  • RNA modifications and cancer
  • Genetic factors in colorectal cancer

Gilissen has authored multiple papers published in various scientific journals. Notable recent papers include:

  • "Presence of Genetic Variants Among Young Men With Severe COVID-19," published in 2020 in JAMA
  • "Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics," published in 2020 in Genetics in Medicine
  • "Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa," published in 2020 in The American Journal of Human Genetics
  • "Recommendations for whole genome sequencing in diagnostics for rare diseases," published in 2022 in European Journal of Human Genetics
  • "Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases," published in 2021 in European Journal of Human Genetics

Frequent publication venues for Gilissen's work include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • European Journal of Human Genetics
  • Genetics in Medicine
  • The American Journal of Human Genetics
  • Genome Medicine

Collaborations form a significant part of Gilissen's research activity. Their frequent co-authors include:

  • Lisenka E.L.M. Vissers
  • Alexander Hoischen
  • Rolph Pfundt
  • Han G. Brunner
  • Wouter Steyaert

The number of publications attributed to Gilissen reflects a focus on genetic disorders and complex genomic analyses, with particular attention to rare diseases. The integration of genomics and transcriptomics is a recurring methodological approach, as seen in their research on retinal disorders and whole genome sequencing diagnostics.

This body of work illustrates Gilissen's engagement with cutting-edge genetic research relevant to understanding and diagnosing complex human diseases.

Best Publications

  • Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

    Joep de Ligt;Marjolein H. Willemsen;Bregje W. M. van Bon;Tjitske Kleefstra

  • Genome sequencing identifies major causes of severe intellectual disability

    Christian Gilissen;Jayne Y. Hehir-Kwa;Djie Tjwan Thung;Maartje van de Vorst

  • A de novo paradigm for mental retardation.

    Lisenka E L M Vissers;Joep de Ligt;Christian Gilissen;Irene Janssen

  • Genetic studies in intellectual disability and related disorders

    Lisenka E. L. M. Vissers;Christian Gilissen;Joris A. Veltman;Joris A. Veltman

  • Presence of Genetic Variants Among Young Men With Severe COVID-19.

    Caspar I. van der Made;Annet Simons;Janneke Schuurs-Hoeijmakers;Guus van den Heuvel

  • STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis

    Frank L. van de Veerdonk;Theo S. Plantinga;Alexander Hoischen;Sanne P. Smeekens

  • De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

    Alexander Hoischen;Bregje W M van Bon;Christian Gilissen;Peer Arts

  • Disease gene identification strategies for exome sequencing

    Christian Gilissen;Alexander Hoischen;Han G Brunner;Joris A Veltman

  • A recent bottleneck of Y chromosome diversity coincides with a global change in culture

    Monika Karmin;Monika Karmin;Lauri Saag;Lauri Saag;Mário Vicente;Melissa A. Wilson Sayres;Melissa A. Wilson Sayres

  • Evidence for 28 genetic disorders discovered by combining healthcare and research data

    J Kaplanis;K E Samocha;L Wiel;Z Zhang

  • Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

    Stefan H Lelieveld;Margot R F Reijnders;Rolph Pfundt;Helger G Yntema

  • 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

  • A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases

    Kornelia Neveling;Ilse Feenstra;Christian Gilissen;Lies H. Hoefsloot

  • Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

    Jutta Becker;Oliver Semler;Christian Gilissen;Yun Li

  • A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

    Robbert D A Weren;Marjolijn J L Ligtenberg;C Marleen Kets;Richarda M de Voer

  • Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

    Gijs W E Santen;Emmelien Aten;Yu Sun;Rowida Almomani

  • Improved exome prioritization of disease genes through cross-species phenotype comparison.

    Peter N. Robinson;Sebastian Köhler;Anika Oellrich;Sanger Mouse Genetics

  • Unlocking Mendelian disease using exome sequencing

    Christian Gilissen;Alexander Hoischen;Han G Brunner;Joris A Veltman

  • Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

    Christian Gilissen;Heleen H. Arts;Alexander Hoischen;Liesbeth Spruijt

  • Next-generation genetic testing for retinitis pigmentosa.

    Kornelia Neveling;Rob W.J. Collin;Christian Gilissen;Ramon A.C. van Huet

Frequent Co-Authors

Joris A. Veltman
Joris A. Veltman University of Edinburgh
Alexander Hoischen
Alexander Hoischen Radboud University
Han G. Brunner
Han G. Brunner Radboud University
Lisenka E.L.M. Vissers
Lisenka E.L.M. Vissers Radboud University
Rolph Pfundt
Rolph Pfundt Radboud University
Helger G. Yntema
Helger G. Yntema Radboud University
Tjitske Kleefstra
Tjitske Kleefstra Erasmus University Rotterdam
Hans van Bokhoven
Hans van Bokhoven Radboud University
Frans P.M. Cremers
Frans P.M. Cremers Radboud University
Arjan P.M. de Brouwer
Arjan P.M. de Brouwer Radboud University

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