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Scientific Reports|December 11, 2019
First identification of mammalian orthoreovirus type 3 by gut virome analysis in diarrheic child in BrazilUlisses Alves Rosa, Geovani de Oliveira Ribeiro, Fabiola Villanova, et al.
American Journal of Human Genetics|April 5, 2024
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetaseAmy G Jones, Matilde Aquilino, Rory J Tinker, et al.
Molecular Genetics & Genomic Medicine|December 17, 2025
Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural AnalysesYutaka Furuta, Kimberly M Ezell, Rizwan Hamid, et al.
Bioinformatics (Oxford, England)|November 6, 2023
Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomicsMegan M Shuey, William W Stead, Ida Aka, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2024
RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizuresMariagrazia Talarico, Julitta de Bellescize, Matthias De Wachter, et al.
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