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Human Genetics|July 8, 2026
The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decadeSimona Cardaropoli, Lisa Pavinato, Slavica Trajkova, et al.
Genes|March 29, 2023
Prenatal Clinical Findings in <i>RASA1</i>-Related Capillary Malformation-Arteriovenous Malformation SyndromeEmanuele Coccia, Lara Valeri, Roberta Zuntini, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 6, 2023
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF geneKarim Karimi, Merel O Mol, Sadegheh Haghshenas, et al.
European Journal of Human Genetics : EJHG|March 6, 2023
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genesChiara Giovenino, Slavica Trajkova, Lisa Pavinato, et al.
HGG Advances|May 16, 2024
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexitySlavica Trajkova, Jennifer Kerkhof, Matteo Rossi Sebastiano, et al.
European Journal of Human Genetics : EJHG|January 8, 2026
Domain-specific phenotypic profiles in RAF1-related Noonan syndromeAndrea Gazzin, Marta Calvo, Federico Rondot, et al.
European Journal of Human Genetics : EJHG|July 8, 2026
Tyrosine kinase inhibitors in Kosaki/Penttinen syndromes: new reports, follow-up of treated individuals and literature reviewCéline Jost, Alessandro Mussa, Jean-Emmanuel Kurtz, et al.
European Journal of Human Genetics : EJHG|June 1, 2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosisMaria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, et al.
European Journal of Human Genetics : EJHG|December 31, 2024
RICTOR variants are associated with neurodevelopmental disordersRaphael Carapito, Anne Molitor, Lisa Pavinato, et al.
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.
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