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Children (Basel, Switzerland)|November 27, 2024
Refractory Chylothorax and Ventricular Hypertrophy Treated with Trametinib in a Patient with Noonan Syndrome: 18-Month Follow-UpAntonia Pascarella, Giuseppe Limongelli, Alessandro De Falco, et al.
American Journal of Medical Genetics. Part A|December 27, 2023
Late-onset mucopolysaccharidosis type IIIA mimicking Usher syndromeAlessandro De Falco, Marianthi Karali, Chiara Criscuolo, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|April 13, 2026
Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, et al.
Biorxiv : the Preprint Server for Biology|March 23, 2026
Distinct mechanisms of CNV formation at the human 15q13.3 locusWolfram Höps, David Porubsky, DongAhn Yoo, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 27, 2024
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorderAlessandro De Falco, Angela De Dominicis, Marina Trivisano, et al.
European Journal of Human Genetics : EJHG|February 26, 2025
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variantsAlessandro Bruselles, Cecilia Mancini, Luigi Chiriatti, et al.
Neurology. Genetics|October 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From <i>RNU4-2</i> Variants to Clinical PhenotypesPasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri, et al.
American Journal of Medical Genetics. Part A|November 21, 2025
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent DysmorphismsAlessandro De Falco, Marie Vincent, Gaëlle Vieville, et al.
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