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The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2.
Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders.
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Correction: A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers.
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
DLG4-related synaptopathy: a new rare brain disorder.
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Automated syndrome diagnosis by three-dimensional facial imaging.
Optimizing genetics online resources for diverse readers.
Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study.