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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.
European Journal of Human Genetics : EJHG|October 1, 2025
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspectiveLiselot van der Laan, Karim Karimi, Kathleen Rooney, et al.
Clinical Genetics|May 11, 2023
POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrumAlessandra Rossi, Lot Snijders Blok, Sonja Neuser, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 23, 2020
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndromeGerarda Cappuccio, Camille Sayou, Pauline Le Tanno, 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.
American Journal of Human Genetics|July 2, 2019
Paralog Studies Augment Gene Discovery: DDX and DHX GenesIngrid Paine, Jennifer E Posey, Christopher M Grochowski, et al.
American Journal of Medical Genetics. Part A|September 28, 2020
Rubinstein-Taybi syndrome in diverse populationsCedrik Tekendo-Ngongang, Babajide Owosela, Nicole Fleischer, et al.
American Journal of Human Genetics|July 30, 2019
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset HypotoniaHanneke A Haijes, Maria J E Koster, Holger Rehmann, et al.
Science Advances|August 17, 2022
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disordersXiangbin Jia, Shujie Zhang, Senwei Tan, et al.
Brain : a Journal of Neurology|February 21, 2024
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized studyNatalia Juliá-Palacios, Mireia Olivella, Mariya Sigatullina Bondarenko, et al.
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