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Author Details

Christian Gilissen
Radboud University Medical Center
2009
225
68
PMIDPaper TitleJournal TitlePublished Year
37973950Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.Eur J Hum Genet2024
37853102Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.Eur J Hum Genet2024
36114283The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.Eur J Hum Genet2023
37628625Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients.Genes (Basel)2023
37796616Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.JCI Insight2023
37658852Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.Genet Med2023
37891200Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.Nat Commun2023
37578974Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility.PLoS Genet2023
37779911<i>ABCA4</i> c.6480-35A&gt;G, a novel branchpoint variant associated with Stargardt disease.Front Genet2023
37158973Comprehensive de novo mutation discovery with HiFi long-read sequencing.Genome Med2023
37250922Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing.Ophthalmol Sci2023
37209535Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesity.EBioMedicine2023
36976648CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.J Clin Invest2023
37195288ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.Hum Mol Genet2023
36819107Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.Front Cell Dev Biol2023
36785559Whole genome sequencing for <i>USH2A</i>-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.HGG Adv2023
36781956Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.Eur J Hum Genet2023
36681873A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.Genet Med2023
36669496Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.Am J Hum Genet2023
36563679De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders.Am J Hum Genet2023
36524988Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.Genet Med2023
36373180A Comprehensive Assay for Resolving Repeat Expansions to the Base Pair.Clin Chem2023
35121194Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65.Stem Cell Res2022
35710456Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.Genome Med2022
35546254Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders.J Inherit Metab Dis2022
35346573Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.Genet Med2022
35672333Scrutinizing pathogenicity of the USH2A c.2276â¿¿Gâ¿¿&gt;â¿¿T; p.(Cys759Phe) variant.NPJ Genom Med2022
35577938Recommendations for whole genome sequencing in diagnostics for rare diseases.Eur J Hum Genet2022
35400598A Common Genomic Denominator for Neuroblastoma and Differentiated Thyroid Carcinoma? A Case Series in Children.Clin Oncol (R Coll Radiol)2022
35833929Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.Genet Med2022
35713566DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data.Nucleic Acids Res2022
35413117De novo mutations in children born after medical assisted reproduction.Hum Reprod2022
36429068The Predicted Splicing Variant c.11+5G&gt;A in <i>RPE65</i> Leads to a Reduction in mRNA Expression in a Cell-Specific Manner.Cells2022
36139577Circulating Tumor DNA-Based Disease Monitoring of Patients with Locally Advanced Esophageal Cancer.Cancers (Basel)2022
36259723Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.Hum Mutat2022
33910932<i>BBS1</i> branchpoint variant is associated with non-syndromic retinitis pigmentosa.J Med Genet2022
35191116Clinical exome sequencing-Mistakes and caveats.Hum Mutat2022
35013161A de novo paradigm for male infertility.Nat Commun2022
32346159Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.Mol Psychiatry2021
33742171Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.Genet Med2021
33740458The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects.Am J Hum Genet2021
33513338Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.Am J Hum Genet2021
33846582Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield.Genet Med2021
33921338Novel Compound Heterozygous Mutation in <i>TRAPPC9</i> Gene: The Relevance of Whole Genome Sequencing.Genes (Basel)2021
33861957Lack of evidence for a role of PIWIL1 variants in human male infertility.Cell2021
33772160Correction: Long-read trio sequencing of individuals with unsolved intellectual disability.Eur J Hum Genet2021
35047838Long-read technologies identify a hidden inverted duplication in a family with choroideremia.HGG Adv2021
34564390Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline.Metabolites2021
34795310Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.NPJ Genom Med2021
34385354Population sequencing data reveal a compendium of mutational processes in the human germ line.Science2021
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Collaborators

Han G Brunner
Maastricht University Medical Centre
Co-authored papers 56
Bert B A de Vries
Radboud University Medical Center
Co-authored papers 33
Susanne Roosing
Radboud University Medical Center
Co-authored papers 13
Anneke T Vulto-van Silfhout
Radboud University Medical Center
Co-authored papers 11
Jayne Y Hehir-Kwa
Princess Maxima Center for Pediatric Oncology
Co-authored papers 11
David A Koolen
Donders Institute for Brain, Radboud University Medical Center
Co-authored papers 11
Carel B Hoyng
Radboud University Medical Center
Co-authored papers 10
Nicole de Leeuw
Radboud University Medical Center
Co-authored papers 8
H??lya Kayserili
Istanbul University
Co-authored papers 8
Evan E Eichler
University of Washington
Co-authored papers 7
Tony Roscioli
Prince of Wales Hospital
Co-authored papers 7
Jakob M Goldmann
Co-authored papers 6
Martijn A Huynen
Radboud University Medical Centre Nijmegen
Co-authored papers 6
Dirk J Lefeber
Co-authored papers 6
Alexander J M Dingemans
Donders Institute for Brain, Radboud University Medical Center
Co-authored papers 5
James R Lupski
Baylor College of Medicine
Co-authored papers 5
Kerstin U Ludwig
Institute of Human Genetics, University of Bonn
Co-authored papers 5
Joop H Jansen
Co-authored papers 5
Shalini N Jhangiani
Baylor College of Medicine
Co-authored papers 4
Bert A van der Reijden
Co-authored papers 4
Ann Nordgren
Co-authored papers 4
Caroline C W Klaver
Erasmus Medical Center
Co-authored papers 4
Sally Ann Lynch
University College Dublin
Co-authored papers 4
Benjamin D Solomon
Co-authored papers 4
Frances Lucy Raymond
University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust
Co-authored papers 4
Nicholas Katsanis
Northwestern University
Co-authored papers 3
Petter Str??mme
University of Oslo
Co-authored papers 3
Irma J??rvel??
University of Helsinki
Co-authored papers 3
Gustavo Glusman
Institute for Systems Biology
Co-authored papers 3
Christoffer Nell??ker
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