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A complex structural variant near SOX3 causes X-linked split-hand/foot malformation
UploadEpisignature Mapping of TRIP12 Provides Functional Insight into Clark–Baraitser Syndrome
Download from doi.orgThe performance of genome sequencing as a first-tier test for neurodevelopmental disorders
UploadCorrection: Long-read trio sequencing of individuals with unsolved intellectual disability
UploadQuantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome
Download from www.nature.comLong-read trio sequencing of individuals with unsolved intellectual disability
Download from www.nature.comA systematic review and standardized clinical validity assessment of male infertility genes
UploadPost-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation
Download from www.ncbi.nlm.nih.govA recent bottleneck of Y chromosome diversity coincides with a global change in culture
Download from doi.orgVariants in CUL4B are Associated with Cerebral Malformations
UploadExome Sequencing Identifies Three Novel Candidate Genes Implicated in Intellectual Disability
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