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The British Journal of Dermatology|October 4, 2023
Omalizumab in the treatment of bullous pemphigoid resistant to first-line therapy: a French national multicentre retrospective study of 100 patientsRéda Chebani, Florian Lombart, Guillaume Chaby, et al.
Pediatric Neurology|November 5, 2021
Semaphorin-Plexin Signaling: From Axonal Guidance to a New X-Linked Intellectual Disability SyndromeJacqueline L Steele, Michelle M Morrow, Harvey B Sarnat, et al.
American Journal of Human Genetics|November 27, 2012
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIATobias B Haack, Penelope Hogarth, Michael C Kruer, et al.
American Journal of Human Genetics|January 14, 2020
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 DeficiencyDavid B Beck, Ana Petracovici, Chongsheng He, et al.
Brain : a Journal of Neurology|June 4, 2024
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalusPhan Q Duy, Bettina Jux, Shujuan Zhao, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 30, 2024
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivityMarine Tessarech, Gaëlle Friocourt, Florent Marguet, et al.
European Journal of Human Genetics : EJHG|September 22, 2025
Further phenotypical delineation of DLG3-related neurodevelopmental disordersMarlène Malbos, Thierry Gautier, Amelle Shillington, et al.
Neurology. Genetics|December 12, 2018
Delineating <i>FOXG1</i> syndrome: From congenital microcephaly to hyperkinetic encephalopathyNancy Vegas, Mara Cavallin, Camille Maillard, et al.
The Lancet. Diabetes & Endocrinology|October 16, 2021
Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort studyFanny Chasseloup, Isabelle Bourdeau, Antoine Tabarin, et al.
Human Mutation|November 3, 2011
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrumSandra Whalen, Delphine Héron, Thierry Gaillon, et al.
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