Christian Gilissen
Universitair Medisch Centrum Sint Radboud
113 papers found
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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Download from doi.orgThe performance of genome sequencing as a first-tier test for neurodevelopmental disorders
UploadDeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data
Download from doi.orgRecommendations for whole genome sequencing in diagnostics for rare diseases
UploadSystematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation
Download from doi.orgBBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa
UploadCorrection: Long-read trio sequencing of individuals with unsolved intellectual disability
UploadLong-read trio sequencing of individuals with unsolved intellectual disability
Download from www.nature.comDeletions and loss-of-function variants in TP63 associated with orofacial clefting
Download from www.nature.comQuantification of Phenotype Information Aids the Identification of Novel Disease Genes
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