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Journal of Medical Genetics|March 8, 2022
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variantsAlessandro Mussa, Chiara Leoni, Matteo Iacoviello, et al.Journal of Medical Genetics|February 21, 2018
Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patientsMathilde Lefebvre, Anne Dieux-Coeslier, Geneviève Baujat, et al.Clinical Genetics|May 6, 2021
ANKRD11 variants: KBG syndrome and beyondIlaria Parenti, Mark B Mallozzi, Irina Hüning, et al.American Journal of Medical Genetics. Part A|May 27, 2017
Phenotypes and genotypes in individuals with SMC1A variantsSylvia Huisman, Paul A Mulder, Egbert Redeker, et al.Wellcome Open Research|June 15, 2018
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variantsKatrina Tatton-Brown, Anna Zachariou, Chey Loveday, et al.Genetics in Medicine Open|April 22, 2026
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseasesAnnalaura Torella, Manuela Morleo, Carmine Spampanato, et al.Nature Reviews. Genetics|July 12, 2018
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statementAntonie D Kline, Joanna F Moss, Angelo Selicorni, et al.Human Molecular Genetics|April 8, 2014
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesisElisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni, et al.Nature Communications|April 11, 2023
FOXI3 pathogenic variants cause one form of craniofacial microsomiaKe Mao, Christelle Borel, Muhammad Ansar, et al.Nature Reviews. Endocrinology|November 27, 2021
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasiaRavi Savarirayan, Penny Ireland, Melita Irving, et al.Pageof 19