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Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2018
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Brain : a Journal of Neurology|July 15, 2023
Neurologic complications in herpes simplex encephalitis: clinical, immunological and genetic studiesThaís Armangué, Gemma Olivé-Cirera, Eugenia Martínez-Hernandez, et al.
Neurology|January 28, 2021
<i>RHOBTB2</i> Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of ChildhoodSara Zagaglia, Dora Steel, S Krithika, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 25, 2019
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndromeKen McElreavey, Anne Jorgensen, Caroline Eozenou, et al.
American Journal of Human Genetics|November 22, 2022
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanismShridhar Parthasarathy, Sarah McKeown Ruggiero, Antoinette Gelot, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 22, 2024
Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephalyYue Huang, Kristy L Jay, Alden Yen-Wen Huang, et al.
Human Mutation|April 21, 2016
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyChloé Saunier, Svein Isungset Støve, Bernt Popp, et al.
Sleep|September 19, 2025
The Boston Children's Hospital Sleep Corpus: A Collection of 15,695 Annotated Pediatric PolysomnogramsAyush Tripathi, Wolfgang Ganglberger, Haoqi Sun, et al.
Biological Psychiatry|January 9, 2016
The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and InhibitionLoyse Hippolyte, Anne M Maillard, Borja Rodriguez-Herreros, et al.
American Journal of Medical Genetics. Part A|May 18, 2021
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorderCaroline Dias, Rolph Pfundt, Tjitske Kleefstra, et al.
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