V. Caputo

发表

Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene

A. Berardelli, D. Martino, G. Defazio, 2003, Movement disorders : official journal of the Movement Disorder Society.

Mechanisms of pathogenesis of missense mutations on the KDM6A-H3 interaction in type 2 Kabuki Syndrome

T. Mazza, S. Castellana, A. Vescovi, 2020, Computational and structural biotechnology journal.

Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1

R. Nussbaum, A. Bentivoglio, A. Albanese, 2004, Science.

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

I. Screpanti, S. Checquolo, M. Digilio, 2010, American journal of human genetics.

Park6‐linked parkinsonism occurs in several european families

A. Bentivoglio, A. Albanese, M. Breteler, 2002, Annals of neurology.

PARK6 is a common cause of familial parkinsonism

A. Bentivoglio, A. Albanese, M. Breteler, 2002, Neurological Sciences.

Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs

E. Bertini, A. Bentivoglio, A. D’Amico, 2015, Journal of the Neurological Sciences.

Potential Role of eNOS Genetic Variants in Ischemic Heart Disease Susceptibility and Clinical Presentation

F. Fedele, C. Lavalle, V. Caputo, 2021, Journal of cardiovascular development and disease.

C. elegans as a model to identify and functionally characterize novel genes causing RASopathies and other developmental diseases

V. Caputo, S. Martinelli, Candidato Luca Pannone, 2017 .

KDM6A missense variants hamper H3 histone demethylation in lung squamous cell carcinoma

Salvatore Daniele Bianco, T. Mazza, S. Castellana, 2022, Computational and structural biotechnology journal.

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration

R. Carrozzo, N. Katsanis, V. Caputo, 2018, Neurology.

Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis

T. Mazza, V. Caputo, A. Pizzuti, 2022, Molecular Neurobiology.

Susceptibility to ischaemic heart disease: Focusing on genetic variants for ATP-sensitive potassium channel beyond traditional risk factors.

F. Fedele, V. Caputo, A. Pizzuti, 2020, European journal of preventive cardiology.

MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants

Salvatore Daniele Bianco, T. Mazza, V. Caputo, 2022, Human mutation.

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33–q34

E. Bertini, F. Brancati, E. Valente, 2002, Annals of neurology.

Susceptibility to ischaemic heart disease: Focusing on genetic variants for ATP-sensitive potassium channel beyond traditional risk factors.

F. Fedele, V. Caputo, A. Pizzuti, 2020, European journal of preventive cardiology.

Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease.

M. Digilio, V. Caputo, L. Bernardini, 2022, European journal of medical genetics.

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

T. Mazza, V. Caputo, A. Pizzuti, 2020, Molecular genetics & genomic medicine.

Clinical Risk Factors for Aortic Root Dilation in Patients with 22q11.2 Deletion Syndrome: A Longitudinal Single-Center Study

V. Caputo, L. Bernardini, B. Marino, 2022, Genes.

Quantification of Small Non-Coding RNAs Allows an Accurate Comparison of miRNA Expression Profiles

Letizia Da Sacco, A. Masotti, B. Dallapiccola, 2009, Journal of biomedicine & biotechnology.

Mutations in PAX2 associate with adult-onset FSGS.

G. Genovese, V. Caputo, M. Tartaglia, 2014, Journal of the American Society of Nephrology : JASN.

PINK1 mutations are associated with sporadic early‐onset parkinsonism

A. Bentivoglio, A. Albanese, L. Romito, 2004, Annals of neurology.

Brain Derived Neurotrophic Factor (BDNF) Expression Is Regulated by MicroRNAs miR-26a and miR-26b Allele-Specific Binding

V. Caputo, A. Pizzuti, L. Sinibaldi, 2011, PloS one.

Correlating Neuroimaging and CNVs Data: 7 Years of Cytogenomic Microarray Analysis on Patients Affected by Neurodevelopmental Disorders

A. Battaglia, G. Cioni, T. Mazza, 2020, Journal of Pediatric Genetics.

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome.

Claudio Carta, Bruno Dallapiccola, Bruce D Gelb, 2012, American journal of human genetics.

SOS1 Mutations in Noonan Syndrome: Molecular Spectrum, Structural Insights on Pathogenic Effects, and Genotype–Phenotype Correlations

O. Gabrielli, M. Digilio, B. Gelb, 2011, Human mutation.

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof‐of‐concept examples

V. Caputo, A. Bruselles, M. Tartaglia, 2016, American journal of medical genetics. Part A.

Ago1 and Ago2 differentially affect cell proliferation, motility and apoptosis when overexpressed in SH‐SY5Y neuroblastoma cells

I. D'Agnano, V. Caputo, C. Cogoni, 2011, FEBS Letters.

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Gabriele Gillessen-Kaesbach, Maria Kousi, Alessandro Bruselles, 2015, American journal of human genetics.

Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family

E. Valente, B. Dallapiccola, V. Caputo, 2004, European Journal of Human Genetics.

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism.

E. Valente, B. Dallapiccola, V. Caputo, 2005, Human molecular genetics.

Restrictive dermopathy: Novel ZMPSTE24 mutation and clues for prenatal diagnosis

T. Mazza, V. Caputo, A. Pizzuti, 2019 .

Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies.

M. Magliozzi, V. Caputo, A. Pizzuti, 2018, Archives of oral biology.

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

F. Kortüm, B. Dallapiccola, V. Caputo, 2015, Nature Genetics.

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome.

S. Pro, M. Digilio, R. Person, 2018, American journal of human genetics.

Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy.

V. Caputo, A. Pizzuti, I. Bottillo, 2016, Gene.

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.

M. Bamshad, V. Caputo, A. Pizzuti, 2016, American journal of human genetics.

Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy

M. Bamshad, V. Caputo, A. Pizzuti, 2016, bioRxiv.

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

V. Caputo, A. Bruselles, M. Tartaglia, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Novel SMAD4 mutation causing Myhre syndrome

V. Caputo, A. Pizzuti, M. Tartaglia, 2014, American journal of medical genetics. Part A.

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.

E. Bertini, C. Compagnucci, A. Coppola, 2016, American journal of human genetics.

Insights into the interaction of sortilin with proneurotrophins: A computational approach

V. Caputo, A. Paiardini, 2008, Neuropeptides.

GDF5 mutation case report and a systematic review of molecular and clinical spectrum: Expanding current knowledge on genotype-phenotype correlations.

T. Mazza, V. Caputo, A. Pizzuti, 2020, Bone.

High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism

B. Dallapiccola, V. Caputo, L. Bernardini, 2004, Clinical genetics.

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

V. Caputo, A. Pizzuti, M. Tartaglia, 2013, Journal of Medical Genetics.

The emerging role of MicroRNA in schizophrenia.

V. Caputo, A. Pizzuti, S. Macrì, 2015, CNS & neurological disorders drug targets.

MitImpact 3: modeling the residue interaction network of the Respiratory Chain subunits

Angelo L. Vescovi, Tommaso Mazza, Luca Parca, 2020, Nucleic Acids Res..

Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.

A. Bentivoglio, C. Limatola, R. Carrozzo, 2020, Parkinsonism & related disorders.

Novel Italian family supports clinical and genetic heterogeneity of primary adult‐onset torsion dystonia

A. Berardelli, G. Defazio, F. Brancati, 2002, Movement disorders : official journal of the Movement Disorder Society.

Mutations of the β myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis

F. Brancati, B. Dallapiccola, V. Caputo, 2003, Journal of medical genetics.

A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies.

A. Tormene, F. Brancati, E. Valente, 2005, Investigative Ophthalmology and Visual Science.

Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation

T. Mazza, V. Caputo, A. Pizzuti, 2019, Molecular genetics & genomic medicine.

Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1

R. Nussbaum, A. Bentivoglio, A. Albanese, 2004, Science.

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof‐of‐concept examples

V. Caputo, A. Bruselles, M. Tartaglia, 2016, American journal of medical genetics. Part A.