Christian Gilissen

Radboud University Nijmegen — Netherlands

Biochemistry, Genetics and Molecular Biology · Life Sciences

86h-index27.6kcitations352works8.42yr avg
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Research Topics

Genomics and Rare Diseases(137), Genomic variations and chromosomal abnormalities(77), Genetics and Neurodevelopmental Disorders(67), Cancer Genomics and Diagnostics(39), Retinal Development and Disorders(29)

Publications345 total

Expansion of the <i>ABCA4</i>-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy
Investigative Ophthalmology & Visual Science·2025· 2 citedOpen Access
Reproductive and cognitive phenotypes in carriers of recessive pathogenic variants
Nature Human Behaviour·2025Open Access
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Genome Research·2025· 16 citedOpen Access
Genome-wide profiling of highly similar paralogous genes using HiFi sequencing
Nature Communications·2025· 4 citedOpen Access
HiFi long-read genomes for difficult-to-detect, clinically relevant variants
The American Journal of Human Genetics·2025· 22 citedOpen Access
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa
2025· 13 citedOpen Access
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
npj Genomic Medicine·2024· 5 citedOpen Access
Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach
Frontiers in Genetics·2024· 2 citedOpen Access
Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis
Clinical Immunology·2024· 11 citedOpen Access
Reproductive and cognitive effects in carriers of recessive pathogenic variants
2024· 1 citedOpen Access
Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants
European Journal of Human Genetics·2024· 7 citedOpen Access
HiFi long-read genomes for difficult-to-detect clinically relevant variants
2024· 2 citedOpen Access
TRGT-denovo: accurate detection of <i>de novo</i> tandem repeat mutations
2024· 5 citedOpen Access
Automatized detection of uniparental disomies in a large cohort
Human Genetics·2024· 8 citedOpen Access
Clinical exome sequencing data from patients with inborn errors of immunity: cohort level meta-analysis and the benefit of systematic reanalysis
2024· 1 citedOpen Access
Detection of DNA Contamination in Prenatal Samples from Whole Exome Sequencing Data
Clinical Chemistry·2024Open Access
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles
Genome Medicine·2024· 4 citedOpen Access
Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan
Experimental Eye Research·2024· 2 citedOpen Access
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
The American Journal of Human Genetics·2024· 3 citedOpen Access
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
2024· 19 citedOpen Access
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Frequent Co-authors

Joris A. Veltman(39), Alexander Hoischen(28), Lisenka E.L.M. Vissers(20), Han G. Brunner(18), Bert B.A. de Vries(12), Bregje W.M. van Bon(10), Rolph Pfundt(10), Petra de Vries(9), Hans Scheffer(9), Tjitske Kleefstra(8), Helger G. Yntema(8), Nienke Wieskamp(8), Marloes Steehouwer(7), Maartje van de Vorst(6), Irene M. Janssen(6), Peer Arts(6), Erik‐Jan Kamsteeg(6), Kornelia Neveling(6), Arjan P.M. de Brouwer(6), Hans van Bokhoven(6)