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Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants.
When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population.
Patent ductus arteriosus and coarctation of the aorta in association with PRDM6 variants.
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.
Expanding the phenotype of PIK3C2A related syndrome: Report of two siblings with novel features and genotype.
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Impact of the COVID-19 pandemic on medical genetics and genomics training: Perspective from clinical trainees.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).