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Biomed Research International|January 28, 2017
Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation SequencingIsabella Bernardis, Laura Chiesi, Elena Tenedini, et al.
Frontiers in Genetics|January 10, 2019
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number VariationsAnna Morgan, Stefania Lenarduzzi, Stefania Cappellani, et al.
EMBO Molecular Medicine|April 17, 2014
Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patientsElena Bonora, Claudio Graziano, Fiorella Minopoli, et al.
Frontiers in Genetics|May 28, 2020
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of FamiliesVilma Mantovani, Sofia Bin, Claudio Graziano, et al.
American Journal of Medical Genetics. Part A|September 24, 2018
A mosaic intragenic microduplication of LAMA1 and a constitutional 18p11.32 microduplication in a patient with keratosis pilaris and intellectual disabilityAnna A Kashevarova, Lyudmila P Nazarenko, Nikolay A Skryabin, et al.
Human Genetics|June 4, 2020
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle EastFlavia Palombo, Claudio Graziano, Nadia Al Wardy, et al.
Human Molecular Genetics|February 22, 2014
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotypePamela Magini, Tommaso Pippucci, I-Chun Tsai, et al.
International Journal of Cardiology|January 24, 2025
A single RBM20 missense variant is a potential contributor to dilated cardiomyopathy and/or isolated left ventricular dilatation in the Emilia Romagna region of ItalySamuela Carigi, Giulia Olivucci, Carlotta Pia Cristalli, et al.
Gastroenterology|January 11, 2015
Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstructionElena Bonora, Francesca Bianco, Lina Cordeddu, et al.
Journal of Medical Genetics|August 19, 2018
Bi-allelic mutations in <i>TRAPPC2L</i> result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblastsMiroslav P Milev, Claudio Graziano, Daniela Karall, et al.
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