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Cells|December 11, 2019
The Emerging Role of Gβ Subunits in Human Genetic DiseasesNatascia Malerba, Pasquelena De Nittis, Giuseppe MerlaJournal of Pediatric Genetics|May 13, 2017
A New Split Hand/Foot Malformation with Long Bone Deficiency Familial CaseCarmela Fusco, Pasquelena De Nittis, Ali Abdullah Alfaiz, et al.Cellular Signalling|December 7, 2013
HDAC6 mediates the acetylation of TRIM50Carmela Fusco, Lucia Micale, Bartolomeo Augello, et al.Human Molecular Genetics|August 15, 2018
Dissecting KMT2D missense mutations in Kabuki syndrome patientsDario Cocciadiferro, Bartolomeo Augello, Pasquelena De Nittis, et al.BMC Cancer|June 17, 2015
TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survivalLucia Micale, Carmela Fusco, Andrea Fontana, et al.American Journal of Human Genetics|November 1, 2019
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism IndividualsGiuliana Giannuzzi, Paul J Schmidt, Eleonora Porcu, et al.Journal of Medical Genetics|November 11, 2020
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndromePasquelena De Nittis, Stephanie Efthymiou, Alexandre Sarre, et al.Human Mutation|March 18, 2014
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Claudia Maffeo, et al.American Journal of Human Genetics|August 16, 2016
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive DisabilityElisabeth M Lodder, Pasquelena De Nittis, Charlotte D Koopman, et al.Epilepsia|February 18, 2022
PIGN encephalopathy: Characterizing the epileptologyAllan Bayat, Guillem de Valles-Ibáñez, Manuela Pendziwiat, et al.Pageof 1