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American Journal of Medical Genetics. Part A|February 9, 2022
Expanding the phenotype of HNRNPU-related neurodevelopmental disorder with emphasis on seizure phenotype and review of literatureJames Taylor, Michael Spiller, Kara Ranguin, et al.
Cold Spring Harbor Molecular Case Studies|June 7, 2019
Clinical and genetic characterization of individuals with predicted deleterious PHIP variantsKirsten E Craddock, Volkan Okur, Ashley Wilson, et al.
Prenatal Diagnosis|February 11, 2024
Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neurological phenotype not visible in early gestation: Dual diagnosis or not?Maud Favier, Julian Delanne, Guillaume Gorincour, et al.
American Journal of Medical Genetics. Part A|January 19, 2020
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literatureMirna Assoum, Ange-Line Bruel, Melissa L Crenshaw, et al.
Clinical Genetics|April 27, 2020
Next-generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disabilityAnge-Line Bruel, Antonio Vitobello, Frédéric Tran Mau-Them, et al.
Science (New York, N.Y.)|January 12, 2013
Ezh2 orchestrates topographic migration and connectivity of mouse precerebellar neuronsThomas Di Meglio, Claudius F Kratochwil, Nathalie Vilain, et al.
Stroke|September 19, 2025
Systematic Genetic Assessment in Young Patients With Cryptogenic Stroke: The ES-EASY projectLoraine Mania-Pâris, Antonio Vitobello, Hana Safraou, et al.
HGG Advances|September 15, 2023
Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndromeYosuke Nishio, Kohji Kato, Frederic Tran Mau-Them, et al.
American Journal of Medical Genetics. Part A|September 9, 2022
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variantsBenoit Mazel, Delphine Mallet, Florence Roucher-Boulez, et al.
Epilepsia Open|August 24, 2019
A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsyAnna Lauritano, Sebastien Moutton, Elena Longobardi, et al.
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