Categoría: The American Journal of Human Genetics

Pilarowski-Björnsson syndrome (PILBOS) is a neurodevelopmental disorder caused by pathogenic variants in CHD1. Here, we characterize a large PILBOS cohort and describe their variants. Using a patient-specific mouse model, we demonstrate that androgens …

Cerebral palsy (CP) is frequently linked to Mendelian disease-associated genes, but no accepted model of its genetic architecture exists. We present a phenotypic model showing statistical evidence of association for only a minority of 515 candidate gen…

The All of Us Research Program1 released its first genomic dataset (Curated Data Repository version 5 [CDRv5]) of almost 100,000 participants in 2022. Since then, All of Us has continued to expand the scale of its genomic offerings, releasing short-rea…

In genomic medicine, continuously updated public archives of genetic variants linked to clinical phenotypes, such as ClinVar and the Matchmaker Exchange, are essential for variant interpretation, patient diagnosis, and treatment. This form of data shar…

Pilarowski-Björnsson syndrome (PILBOS) is a neurodevelopmental disorder caused by pathogenic variants in CHD1. Here, we characterize a large PILBOS cohort and describe their variants. Using a patient-specific mouse model, we demonstrate that androgens …

Cerebral palsy (CP) is frequently linked to Mendelian disease-associated genes, but no accepted model of its genetic architecture exists. We present a phenotypic model showing statistical evidence of association for only a minority of 515 candidate gen…

The All of Us Research Program1 released its first genomic dataset (Curated Data Repository version 5 [CDRv5]) of almost 100,000 participants in 2022. Since then, All of Us has continued to expand the scale of its genomic offerings, releasing short-rea…

In genomic medicine, continuously updated public archives of genetic variants linked to clinical phenotypes, such as ClinVar and the Matchmaker Exchange, are essential for variant interpretation, patient diagnosis, and treatment. This form of data shar…

Analysis of germline and somatic cancer variants across 40 tumor suppressor genes (TSGs) revealed

Using RNA and mESC functional analyses of 166 BRCA1 exon 18 variants, this ENIGMA study defines evidence-based thresholds for interpreting variants that induce skipping of this in-frame exon. The findings demonstrate that exon 18 skipping is poorly tol…