Viviana Caputo

Pubblicazioni

Titolo Pubblicato in Anno
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance MOLECULAR GENETICS & GENOMIC MEDICINE 2020
Susceptibility to ischaemic heart disease. Focusing on genetic variants for ATP-sensitive potassium channel beyond traditional risk factors EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY 2020
New insights on the influence of free d-aspartate metabolism in the mammalian brain during prenatal and postnatal life BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS 2020
Mechanisms of pathogenesis of missense mutations on the KDM6A-H3 interaction in type 2 Kabuki Syndrome COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL 2020
Increased availability of the human milk oligosaccharide sialyl(alpha2,3)lactose during lactation promotes the development of executive functions 48th meeting of EBBS abstract book 2019
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation. MOLECULAR GENETICS & GENOMIC MEDICINE 2019
Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies ARCHIVES OF ORAL BIOLOGY 2018
Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration NEUROLOGY 2018
Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome AMERICAN JOURNAL OF HUMAN GENETICS 2018
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY 2017
Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy DATA IN BRIEF 2016
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy AMERICAN JOURNAL OF HUMAN GENETICS 2016
TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy AMERICAN JOURNAL OF HUMAN GENETICS 2016
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples AMERICAN JOURNAL OF MEDICAL GENETICS. PART A 2016
Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies AMERICAN JOURNAL OF HUMAN GENETICS 2015
Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations. clinical, molecular and biochemical characterization in three sibs JOURNAL OF THE NEUROLOGICAL SCIENCES 2015
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. GENE 2015
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome NATURE GENETICS 2015
The emerging role of MicroRNA in schizophrenia CNS & NEUROLOGICAL DISORDERS. DRUG TARGETS 2015

Progetti di Ricerca

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