Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
Polygenic risk prediction: why and when out-of-sample prediction R2 can exceed SNP-based heritability.
De novo missense variants in phosphatidylinositol kinase PIP5KI? underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
