Showing results (1-10 of 6) with videos related to
Sort By:
Pageof 1
Annual Review of Genomics and Human Genetics|May 13, 2020
Recent Advances in Understanding the Genetic Architecture of AutismCaroline M Dias, Christopher A WalshHGG Advances|November 8, 2025
Exon-skipping due to bi-allelic splice site mutations in the neurodevelopmental disease gene LNPKRose M Doss, Sara A Wirth, Jonathan W Pitsch, et al.Genes|February 26, 2025
Mosaicism in Short Tandem Repeat Disorders: A Clinical PerspectiveRose M Doss, Susana Lopez-Ignacio, Anna Dischler, et al.Biorxiv : the Preprint Server for Biology|November 24, 2025
Long-read sequencing reveals extensive FMR1 somatic mosaicism in Fragile-X associated tremor/ataxia syndrome in human brainAnna Dischler, Akshay Avvaru, Susana Lopez-Ignacio, et al.Proceedings of the National Academy of Sciences of the United States of America|May 30, 2023
Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndromeCaroline M Dias, Biju Issac, Liang Sun, et al.American Journal of Human Genetics|November 1, 2019
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental DisorderCaroline M Dias, Jaya Punetha, Céline Zheng, et al.Pageof 1