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Stem Cell Research|December 28, 2023
Generation of five induced pluripotent stem cell lines from patients with MECP2 Duplication SyndromeDanielle Mendonca, Gerarda Cappuccio, Jennifer Sheppard, et al.
Plos One|September 30, 2017
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic dietGerarda Cappuccio, Michele Pinelli, Marianna Alagia, et al.
European Journal of Medical Genetics|September 5, 2017
Gait disturbance and lower limb pain in a patient with PIK3CA-related disorderGerarda Cappuccio, Marianna Alagia, Mariangela D'Anna, et al.
Neurology|February 3, 2022
De Novo <i>ATP1A1</i> Variants in an Early-Onset Complex Neurodevelopmental SyndromeMaike F Dohrn, Adriana P Rebelo, Siddharth Srivastava, et al.
American Journal of Medical Genetics. Part A|January 13, 2022
Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defectsGerarda Cappuccio, Nicola Brunetti-Pierri, Paul Clift, et al.
Molecular Genetics and Metabolism Reports|August 10, 2016
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrumTaraka R Donti, Gerarda Cappuccio, Leroy Hubert, et al.
Human Mutation|May 15, 2025
Deletion Testing of the <i>DEGS1</i> Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18)Mariateresa Zanobio, Francesca Nardecchia, Gerarda Cappuccio, et al.
Birth Defects Research|June 18, 2022
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature reviewFerruccio Romano, Mariateresa Falco, Gerarda Cappuccio, et al.
Human Molecular Genetics|June 14, 2020
An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organsNicola Bedoni, Mathieu Quinodoz, Michele Pinelli, et al.
American Journal of Medical Genetics. Part A|July 25, 2022
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorderGerarda Cappuccio, Margherita Lucia De Bernardi, Alessia Morlando, et al.
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