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Journal of the Peripheral Nervous System : JPNS|August 27, 2015
Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathyMaria Tufano, Gerarda Cappuccio, Gaetano Terrone, et al.
American Journal of Medical Genetics. Part A|August 3, 2017
Expanding the phenotype of DST-related disorder: A case report suggesting a genotype/phenotype correlationGerarda Cappuccio, Michele Pinelli, Annalaura Torella, et al.
Gene|January 21, 2014
Loeys-Dietz syndrome type 4, caused by chromothripsis, involving the TGFB2 genePaolo Fontana, Rita Genesio, Alberto Casertano, et al.
Neurology and Therapy|January 9, 2019
The Treatment of Hypersalivation in Rett Syndrome with Botulinum Toxin: Efficacy and Clinical ImplicationsPia Bernardo, Enza Raiano, Gerarda Cappuccio, et al.
American Journal of Medical Genetics. Part A|December 28, 2020
A pilot clinical trial with losartan in Myhre syndromeGerarda Cappuccio, Martina Caiazza, Alessandro Roca, et al.
Frontiers in Neuroscience|January 28, 2025
MetaboLINK is a novel algorithm for unveiling cell-specific metabolic pathways in longitudinal datasetsJared Lichtarge, Gerarda Cappuccio, Soumya Pati, et al.
BMC Medical Genetics|January 30, 2014
Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 geneGerarda Cappuccio, Alessandro Rossi, Paolo Fontana, et al.
American Journal of Medical Genetics. Part A|November 19, 2013
A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndromeGaetano Terrone, Gerarda Cappuccio, Rita Genesio, et al.
JIMD Reports|December 1, 2016
Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated PropionylcarnitineGerarda Cappuccio, Paldeep S Atwal, Taraka R Donti, et al.
JIMD Reports|March 11, 2020
Cavitating and tigroid-like leukoencephalopathy in a case of <i>NDUFA2</i>-related disorderMarianna Alagia, Gerarda Cappuccio, Annalaura Torella, et al.
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