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Haematologica|March 31, 2018
Late effects after hematopoietic stem cell transplantation for β-thalassemia major: the French national experienceIlhem Rahal, Claire Galambrun, Yves Bertrand, et al.American Journal of Human Genetics|February 13, 2018
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone FragilityClothilde Esteve, Ludmila Francescatto, Perciliz L Tan, et al.British Journal of Haematology|October 19, 2018
Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus ConferenceStephan Lobitz, Paul Telfer, Elena Cela, et al.American Journal of Medical Genetics. Part A|October 1, 2015
Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patientsSalima El Chehadeh, Laurence Faivre, Anne-Laure Mosca-Boidron, et al.Neurology|May 11, 2016
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathyJohannes R Lemke, Kirsten Geider, Katherine L Helbig, et al.Journal of Medical Genetics|April 6, 2018
Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological featuresMarguerite Miguet, Laurence Faivre, Jeanne Amiel, et al.European Journal of Human Genetics : EJHG|October 23, 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disordersThomas Husson, François Lecoquierre, Gaël Nicolas, et al.Pageof 9