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Neuropediatrics|June 1, 2017
Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological DiseaseGillian I Rice, Naoki Kitabayashi, Magalie Barth, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2017
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testingPaul Kuentz, Judith St-Onge, Yannis Duffourd, et al.Clinical Genetics|August 14, 2023
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendationsLaurence Faivre, Jean-Charles Crépin, Manon Réda, et al.Frontiers in Genetics|April 10, 2023
Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic toolFrédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, et al.Journal of Medical Genetics|April 12, 2020
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disabilityMartin Chevarin, Yannis Duffourd, Rebecca A Barnard, et al.European Journal of Human Genetics : EJHG|February 2, 2020
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literatureSophie Nambot, Laurence Faivre, Ghayda Mirzaa, et al.Human Mutation|March 8, 2012
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathyJohann Böhm, Valérie Biancalana, Elizabeth T Dechene, et al.American Journal of Human Genetics|January 15, 2019
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF PathwayJustyna A Karolak, Marie Vincent, Gail Deutsch, et al.Neurology|May 26, 2026
Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and OutcomeFlorence Riccardi, Béatrice Desnous, Emilie Borloz, et al.Journal of Medical Genetics|April 6, 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenitaAnnie Laquerriere, Dana Jaber, Emanuela Abiusi, et al.Pageof 15