Alessandro De Falco
14PUBLICATIONS
80CO-AUTHORS
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Publications (14)
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|Apr 13, 2026
Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4.Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio
|Mar 23, 2026
Distinct mechanisms of CNV formation at the human 15q13.3 locus.Wolfram Höps, David Porubsky, DongAhn Yoo
|Mar 16, 2026
Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents.Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti-Pierri
|Oct 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.Pasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri
|Feb 26, 2025
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.Alessandro Bruselles, Cecilia Mancini, Luigi Chiriatti
|Feb 26, 2025
Expanding the Clinical Spectrum Associated with the Recurrent Arg203Trp Variant in PACS1: An Italian Cohort Study.Stefano Pagano, Diego Lopergolo, Alessandro De Falco
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Frequent Collaborators
6 joint publications
Nicola Brunetti-Pierri
4 joint publications
Achille Iolascon
2 joint publications
Antonio Novelli
2 joint publications
Elia Marco Paolo Minale
2 joint publications
Emanuele Agolini
2 joint publications
Filippo Maria Santorelli
2 joint publications
Camilla Meossi
1 joint publications
Daniele De Brasi
1 joint publications
Mario Capasso
1 joint publications
Marianthi Karali
