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European Journal of Human Genetics : EJHG|June 1, 2024
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variantAndrea Gazzin, Federico Fornari, Marcello Niceta, et al.
Clinical Genetics|July 17, 2022
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniquesDiana Carli, Matteo Operti, Silvia Russo, et al.
Frontiers in Immunology|January 24, 2019
Pregnancy Epigenetic Signature in T Helper 17 and T Regulatory Cells in Multiple SclerosisAndrea Iannello, Simona Rolla, Alessandro Maglione, et al.
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.
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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 5, 2023
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorderLisa Pavinato, Jennifer Stanic, Marta Barzasi, 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.
Nature Genetics|August 18, 2022
Rare coding variation provides insight into the genetic architecture and phenotypic context of autismJack M Fu, F Kyle Satterstrom, Minshi Peng, et al.
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