Results 191 to 200 of about 1,791,159 (252)

Mosaicism for Cohen–Gibson Syndrome in a Female Individual With Overgrowth and Neurodevelopmental Delay

Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
Postzygotic EED mosaicism: c.1091G > T; p.(Trp364Leu) in a 12‐year‐old female with overgrowth–intellectual disability syndrome (Cohen–Gibson syndrome). Variant allele fractions: 31% blood, 30% saliva, 11%–17% buccal mucosa. This expands the spectrum of EED‐related disorders, highlighting mosaic screening for diagnosis, counselling, and future therapies.
Fei Song, Manuel Michels, Beate Betz, Walburga Vorhoff, Teresa Neuhann, Lisa Senninger, Dagmar Wieczorek   +6 more
wiley   +1 more source

Expanding CIRdb, a comprehensive catalog of whole-exome sequencing data of Canary Islanders. [PDF]

iScience
Díaz-de Usera A, Rubio-Rodríguez LA, Muñoz-Barrera A, Lorenzo-Salazar JM, Guillen-Guio B, Jáspez D, Corrales A, Marcelino-Rodríguez I, Rodríguez-Pérez MDC, Cabrera-de León A, González-Montelongo R, Cruz-Guerrero R, Carracedo Á, Flores C.   +13 more
europepmc   +1 more source

A Heterozygous Variant in the GABBR2 Gene in a Girl With Clinical Classic Rett Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 10, October 2026.
A heterozygous de novo GABBR2 variant was identified in a girl with clinical classical Rett syndrome. Comparison with previously reported cases suggests that GABBR2 variants should be considered in the genetic evaluation of individuals with MECP2‐negative Rett syndrome.
Jenny Klintenstedt, Peter Baeck, Ingegerd Witt Engerström, Cecilia Gunnarsson   +3 more
wiley   +1 more source

Association Analysis of Inter-Alpha-Trypsin Inhibitor Genes in Schizophrenia. [PDF]

Juntendo Med J
Mao W, Ohnuma T, Nishimon S, Sannohe T, Katsuta N, Shibata N.   +5 more
europepmc   +1 more source

Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.

American Journal of Human Genetics, 2017
Melissa Lee, Patrick Roos, N. Sharma, M. Atalar, T. Evans, Matthew J Pellicore, Emily Davis, Anh Lam, S. E. Stanley, Sara E Khalil, G. Solomon, Douglas Walker, K. Raraigh, B. Vecchio-Pagan, M. Armanios, G. Cutting   +15 more
semanticscholar   +1 more source

Machine‐Learning Models Trained on Genomic Summary Statistics Assess Extinction Risk and Recovery Potential of Bottlenecked Populations

Evolutionary Applications, Volume 19, Issue 10, October 2026.
ABSTRACT Forecasting extinction risk from genomic data is challenging because of interactions among environment, demography, and genomic erosion. Here, we use known outcomes from forward simulations as a proof‐of‐concept study to test whether machine‐learning (ML) models can discriminate relative extinction risk and recovery potential from genomic ...
Johanna C. Winder, Jack N. Marsters, Thomas Birley, Jasmyn Gooding, Taoyang Wu, Jim J. Groombridge, Hernán E. Morales, Cock van Oosterhout   +7 more
wiley   +1 more source

End-to-end deep learning methods for genetic risk prediction of schizophrenia. [PDF]

Nat Commun
Verplaetse N, Moreau Y, Raimondi D.
europepmc   +1 more source

ZmDLR9 is required for lateral root development via pre‐rRNA processing in maize

The Plant Journal, Volume 128, Issue 1, October 2026.
SUMMARY Pumilio (PUM) proteins comprise an evolutionarily conserved family of sequence‐specific RNA‐binding proteins that act as key post‐transcriptional regulators in eukaryotes. In this study, we identified a maize PUM protein, named ZmDLR9 (Defective in Lateral Root 9), as a positive factor involved in lateral root development.
Daojun Li, Yang Li, Aiming Xing, Shixian Zhang, Yanbin Zhu, Feng Wei, Haitao Zeng, Tao Zheng, Zhubing Hu, Chunfei Wang   +9 more
wiley   +1 more source

Interference of Small Sequence Variants with MLPA in <i>CLCN1</i>: Implications for Congenital Myotonia Diagnosis. [PDF]

Genes (Basel)
Busacca M, Canioni E, Brugnoni R.
europepmc   +1 more source

Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder

bioRxiv, 2016
D. Krupp, Rebecca A. Barnard, Y. Duffourd, S. Evans, Ryan M. Mulqueen, R. Bernier, J. Rivière, E. Fombonne, B. O'Roak   +8 more
semanticscholar   +1 more source