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Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders
Download from www.ncbi.nlm.nih.govDisruptive CHD8 mutations define a subtype of autism early in development
Download from www.ncbi.nlm.nih.govDominant β-catenin mutations cause intellectual disability with recognizable syndromic features
Download from www.jci.orgA SWI/SNF related autism syndrome caused by de novo mutations in ADNP
Download from www.nature.comNR2F1 Mutations Cause Optic Atrophy with Intellectual Disability
Download from www.ncbi.nlm.nih.govGenome sequencing identifies major causes of severe intellectual disability
Download from www.nature.comExome sequencing in TESE children: a pilot study
UploadMobster: accurate detection of mobile element insertions in next generation sequencing data
Download from dx.doi.orgA drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Download from www.ncbi.nlm.nih.govPoint mutations as a source of de novo genetic disease
Download from www.researchgate.netDetection of clinically relevant copy number variants with whole-exome sequencing
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