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uORF‐introducing variants in the 5′UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome
Download from onlinelibrary.wiley.comHeterozygous variants in PRPF8 are associated with neurodevelopmental disorders
Download from onlinelibrary.wiley.comDe novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder
Download from onlinelibrary.wiley.comExome sequencing identifies the first genetic determinants of sirenomelia in humans
UploadPatients with 10q22.3q23.1 recurrent deletion syndrome are at risk for juvenile polyposis
UploadIdentification of mobile retrocopies during genetic testing: consequences for routine diagnosis
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