New Rare Genetic Neurodevelopmental Disorder Identified
Summary: Researchers have identified a previously unknown rare genetic disease named RPN1-CDG. The study used whole exome sequencing…
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder
Genetic association analysis We identified the recessive form of RNU2-2 syndrome through a joint statistical analysis of the…
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function
Institute of Medical Genetics, University of Zurich, Zurich, Switzerland Reza Asadollahi, Paranchai Boonsawat, Dennis Kraemer & Anita Rauch Faculty of Engineering and…
Hotspots of human mutation point to clonal expansions in spermatogonia
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.…
Further phenotypical delineation of DLG3-related neurodevelopmental disorders
Elias GM, Elias LAB, Apostolides PF, Kriegstein AR, Nicoll RA. Differential trafficking of AMPA and NMDA receptors by…
Baylor Genetics to Showcase the Expanding Role and Clinical
HOUSTON, Sept. 22, 2025 (GLOBE NEWSWIRE) — Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic…
Large-scale genome-wide analyses of stuttering
Yairi, E. & Ambrose, N. Epidemiology of stuttering: 21st century advances. J. Fluen. Disord. 38, 66–87 (2013). Google…
UK study identifies 8 new schizophrenia genes
New Delhi: UK researchers have discovered eight new genes associated with schizophrenia, an advance that will improve the…
Mechanistic insights into 16p13.3 microdeletions encompassing TBC1D24 and ATP6V0C through advanced sequencing approaches
Kumar D. Disorders of the genome architecture: a review. Genom Med. 2008;2:69–76. https://doi.org/10.1007/s11568-009-9028-2. Article Google Scholar Shaw CJ,…
Therapeutic strategies for fragile X syndrome and implications for other gene-silencing disorders
Ng, S. B. et al. Exome sequencing identifies the cause of a Mendelian disorder. Nat. Genet. 42, 30–35…