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A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.
The spectrum of pathogenic NF1 variants in participants enrolling on clinical trials of MEK inhibitors for plexiform neurofibroma.
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.
Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.
Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization.