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
UploadRecommendations 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.orgCorrection: 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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