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Medrxiv : the Preprint Server for Health Sciences|July 2, 2026
A class of deep intronic IGHMBP2 variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotideSarah Silverstein, Andrew D Nguyen, Rotem Orbach, et al.American Journal of Human Genetics|November 24, 2020
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model OrganismsScott Barish, Tahsin Stefan Barakat, Brittany C Michel, et al.Blood|January 24, 2025
One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying themAinsley V C Knox, Lauren Y Cominsky, Di Sun, et al.Nature Communications|September 10, 2024
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviorsJana Willim, Daniel Woike, Daniel Greene, et al.Brain : a Journal of Neurology|February 12, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystoniaMichael Zech, Ivana Dzinovic, Matej Skorvanek, et al.American Journal of Human Genetics|April 17, 2018
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital AnomaliesHanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, et al.American Journal of Human Genetics|January 11, 2025
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disordersIvana Lessel, Anja Baresic, Ivan K Chinn, et al.Pageof 4