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American Journal of Human Genetics|March 31, 2022
De novo variants in ATP2B1 lead to neurodevelopmental delayMeer Jacob Rahimi, Nicole Urban, Meret Wegler, et al.
Human Mutation|January 16, 2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortiumArjan P M de Brouwer, Helger G Yntema, Tjitske Kleefstra, et al.
European Journal of Human Genetics : EJHG|December 31, 2024
RICTOR variants are associated with neurodevelopmental disordersRaphael Carapito, Anne Molitor, Lisa Pavinato, et al.
American Journal of Human Genetics|December 24, 2025
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disordersLauren Rekerle, Daniel Danis, Filip Rehburg, et al.
Medrxiv : the Preprint Server for Health Sciences|June 5, 2026
Genome-wide discovery reveals 30 loci for choroidal thickness and uncovers potential causal links with angle-closure glaucomaSamantha Sze-Yee Lee, Carol A Wang, Victor A de Vries, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 5, 2017
CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlationsChun-An Chen, Daniëlle G M Bosch, Megan T Cho ScM, et al.
American Journal of Medical Genetics. Part A|May 11, 2022
Heterozygous variants in PRPF8 are associated with neurodevelopmental disordersLauren O'Grady, Samantha A Schrier Vergano, Trevor L Hoffman, et al.
American Journal of Human Genetics|October 11, 2011
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorderMichael E Talkowski, Sureni V Mullegama, Jill A Rosenfeld, et al.
Journal of Medical Genetics|October 15, 2013
Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencingJanneke H M Schuurs-Hoeijmakers, Anneke T Vulto-van Silfhout, Lisenka E L M Vissers, et al.
Nature Genetics|February 28, 2012
De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndromeJean-Baptiste Rivière, Bregje W M van Bon, Alexander Hoischen, et al.
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