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Molecular Genetics and Metabolism|August 5, 2025
Institutional readiness for novel therapeutics: A framework for multidisciplinary integrationElizabeth G Ames, Nicholas A Borja, Russell J Butterfield, et al.
Ophthalmic Genetics|May 29, 2025
Novel <i>KMT2D</i> pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurityFrancisco J López-Font, Sofia De Arrigunaga, Natasha F Santos da Cruz, et al.
Annals of Clinical and Translational Neurology|March 20, 2024
Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autismMaike F Dohrn, Guney Bademci, Adriana P Rebelo, et al.
American Journal of Human Genetics|March 15, 2025
De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptomsAli H Bereshneh, Jonathan C Andrews, Daniel F Eberl, et al.
European Journal of Human Genetics : EJHG|April 27, 2024
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individualsDana E Layo-Carris, Emily E Lubin, Annabel K Sangree, et al.
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