Neurodevelopmental disorders - United Kingdom News Beep

Common and rare genetic variant associations with cognitive performance across development in British birth cohorts

July 11, 2026

This work complies with all relevant ethics regulations. The Cambridge South Research Ethics Committee (10/H0305/83), The Republic of…

HHealth

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

March 31, 2026

Genetic association analysis We identified the recessive form of RNU2-2 syndrome through a joint statistical analysis of the…

HHealth

Proteome-wide model for human disease genetics

November 24, 2025

Statistics and reproducibility This study is based on analysis of large-scale sequencing and variant annotation datasets (UniRef58, UKBB17,…

GGenetics

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

October 22, 2025

Institute of Medical Genetics, University of Zurich, Zurich, Switzerland Reza Asadollahi, Paranchai Boonsawat, Dennis Kraemer & Anita Rauch Faculty of Engineering and…

HHealth

Hotspots of human mutation point to clonal expansions in spermatogonia

October 9, 2025

Lawson, A. R. J. et al. Somatic mutation and selection at population scale. Nature https://doi.org/10.1038/s41586-025-09584-w (2025). Maeda, H.…

GGenetics

Baylor Genetics’ Chairman and CEO Kengo Takishima Named One of Houston Business Journal’s 2025 Most Admired CEOs

September 22, 2025

HOUSTON, Sept. 22, 2025 (GLOBE NEWSWIRE) — Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic…

GGenetics

Large-scale genome-wide analyses of stuttering

July 28, 2025

Yairi, E. & Ambrose, N. Epidemiology of stuttering: 21st century advances. J. Fluen. Disord. 38, 66–87 (2013). Google…