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Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome.
COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.
De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.
Chromosomal haplotypes by genetic phasing of human families.
Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation.