Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features
GestaltGAN: Synthetic photorealistic portraits of individuals with rare genetic disorders
Expanding clinical spectrum of PAICS deficiency: Comprehensive analysis of two sibling cases
View of healthcare professionals on ultra-rapid genome sequencing and its implementation in clinical routine for critically ill children
A genetic perspective on the recent demographic history of Ireland and Britain
Enhanced resolution of optical genome mapping utilizing telomere-to-telomere reference in genetic disorders
Autosomal dominant stromal corneal dystrophy associated with a SPARCL1 missense variant
Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity, leads to neurodevelopmental disorder and obesity.
Four Loss of Function Pathogenic Variants in ARHGAP29 in Non-Syndromic Cleft Lip and Palate
A child with cutaneous-skeletal hypophosphatemia syndrome caused by a mosaic HRAS mutation – outcome of treatment with anti-FGF23 antibody
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