Etiqueta: AmJHumGenet
-
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism
We describe 17 subjects with bi-allelic WDHD1 variants and a clinical spectrum ranging from early fetal lethality to microcephalic primordial dwarfism without developmental delay. Subject-derived fibroblasts showed impaired cell proliferation, delayed …
-
Bi-allelic WDHD1 variants cause microcephalic primordial dwarfism
We describe 17 subjects with bi-allelic WDHD1 variants and a clinical spectrum ranging from early fetal lethality to microcephalic primordial dwarfism without developmental delay. Subject-derived fibroblasts showed impaired cell proliferation, delayed …
-
Measuring disease likelihood in genomic ascertainment
In this study, the likelihood that individuals with medically actionable secondary genomic variants were affected with hereditary cancer ranged from 26.2% to 100%. Over half (51%) met diagnostic criteria for testing, indicating underuse. Assessing the …
-
Measuring disease likelihood in genomic ascertainment
In this study, the likelihood that individuals with medically actionable secondary genomic variants were affected with hereditary cancer ranged from 26.2% to 100%. Over half (51%) met diagnostic criteria for testing, indicating underuse. Assessing the …
-
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder
The American Journal of Human Genetics 112, 2643–2664; November 6, 2025
-
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder
The American Journal of Human Genetics 112, 2643–2664; November 6, 2025
-
Multi-ancestry transcriptome prediction with functionally informed variants in TOPMed MESA improves performance of transcriptome-wide association studies
We proposed methods leveraging functionally informed variants for multi-ancestry transcriptome prediction and demonstrated improvements on multi-ancestry TWAS performance. Our proposed omnibus approach, which aggregates TWAS results, further improves T…
-
Associations of genetic variants with gene expression factors reveal biological pathways underlying complex traits
GWASs have identified thousands of trait-associated variants, yet their downstream mechanisms remain unclear. By linking variants to pathway-level expression factors and developing the effect consistency test, we uncover biological pathways mediating i…
-
This month in The Journal
Polygenic risk scores (PRSs) are promising tools that have the potential to help translate findings from genetic association studies into clinically meaningful health insights. As work on PRSs has increased, it has become clear that the accuracy of the…
-
Implications of the FDA’s new plausible mechanism framework for the development of a personalized in vivo prime editing platform
The authors report initial proof-of-concept studies supporting a customizable prime editing platform geared to the treatment of 7 urea cycle disorders and other liver-centered disorders, as well as the outcome of a formal meeting with the FDA to discus…