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Human Genetics|March 26, 2015
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoireDaniela Rusconi, Gloria Negri, Patrizia Colapietro, et al.American Journal of Medical Genetics. Part A|May 6, 2017
Nomenclature and definition in asymmetric regional body overgrowthJennifer M Kalish, Leslie G Biesecker, Frederic Brioude, et al.European Journal of Human Genetics : EJHG|March 26, 2024
DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensitivity in validating postzygotic mosaicismMarcello Niceta, Andrea Ciolfi, Marco Ferilli, et al.European Journal of Medical Genetics|May 31, 2014
Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutationCarolina Baquero-Montoya, María-Concepción Gil-Rodríguez, María Hernández-Marcos, et al.European Journal of Medical Genetics|November 14, 2016
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platformFrancesco Calì, Valeria Chiavetta, Giuseppa Ruggeri, et al.Nature Genetics|March 12, 2014
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disabilityKatrina Tatton-Brown, Sheila Seal, Elise Ruark, et al.American Journal of Medical Genetics. Part A|August 16, 2014
CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new casesTara L Wenger, Margaret Harr, Stefania Ricciardi, et al.Journal of Medical Genetics|March 15, 2020
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorderGabriella Maria Squeo, Bartolomeo Augello, Valentina Massa, et al.Orphanet Journal of Rare Diseases|June 26, 2023
Real-world evidence in achondroplasia: considerations for a standardized data setYasemin Alanay, Klaus Mohnike, Ola Nilsson, et al.American Journal of Medical Genetics. Part A|April 14, 2026
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical EvaluationsMindy H Li, Deziree L Coleman, Kelsey Hogan, et al.Pageof 19