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American Journal of Human Genetics|June 12, 2024
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon responseWallid Deb, Cory Rosenfelt, Virginie Vignard, et al.
Genes|July 27, 2024
Expanding Genetic Counselor Roles: A Model for Global Research DevelopmentColleen C Muraresku, Elizabeth M McCormick, Lydia Rockart, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2022
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsSayaka Kayumi, Luis A Pérez-Jurado, María Palomares, et al.
Nature Communications|February 17, 2025
RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSSAvinash V Dharmadhikari, Maria Alba Abad, Sheraz Khan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behaviorHolly K Harris, Tojo Nakayama, Jenny Lai, et al.
JAMA|November 9, 2020
Effect of Hydroxychloroquine on Clinical Status at 14 Days in Hospitalized Patients With COVID-19: A Randomized Clinical TrialWesley H Self, Matthew W Semler, Lindsay M Leither, et al.
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