Categoría: The American Journal of Human Genetics

We identify bi-allelic NDUFA5 variants in four individuals from three families with mitochondrial complex I deficiency. Genomic, transcriptomic, proteomic, and biochemical studies across patient tissues, complemented by a zebrafish model, characterize …

We identify bi-allelic NDUFA5 variants in four individuals from three families with mitochondrial complex I deficiency. Genomic, transcriptomic, proteomic, and biochemical studies across patient tissues, complemented by a zebrafish model, characterize …

EA-Pathways, a control-free ultra-rare variant association method, recovers breast cancer risk pathways and genes from the germlines of affected women in the UK Biobank. A portion of these pathways is associated with earlier disease, and this extends t…

(The American Journal of Human Genetics 111, 2411–2426; November 7, 2024)

(The American Journal of Human Genetics 112, 2266–2280; October 2, 2025)

We describe six individuals from five unrelated families harboring variants in ATG12, a core autophagy gene, resulting in a neurodevelopmental disorder. Using patient tissue and in vitro and in vivo models, we show that these variants disrupt autophagy…

(The American Journal of Human Genetics 111, 2411–2426; November 7, 2024)

(The American Journal of Human Genetics 112, 2266–2280; October 2, 2025)

We describe six individuals from five unrelated families harboring variants in ATG12, a core autophagy gene, resulting in a neurodevelopmental disorder. Using patient tissue and in vitro and in vivo models, we show that these variants disrupt autophagy…

We describe six individuals from five unrelated families harboring variants in ATG12, a core autophagy gene, resulting in a neurodevelopmental disorder. Using patient tissue and in vitro and in vivo models, we show that these variants disrupt autophagy…