Massimo Carella

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 22

Top Venues

Genes

American journal of medical genetics. Part A

Biomedicines

Journal of clinical medicine

Ospedale Casa Sollievo della Sofferenza

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Ospedale Casa Sollievo della Sofferenza Sep 02 2002

Italy

Senior Researcher :: Medical Genetics Unit

Telethon Institute of Genetics and Medicine Nov 01 2000 - Aug 31 2002

Italy

Senior Researcher

Publications

Giorgia Dinoi, Elena Conte, Orazio Palumbo, Mario Benvenuto, Maria Antonietta Coppola, Pietro Palumbo, Patrizia Lastella, Brigida Boccanegra, Ester Di Muro, Marco Castori, Massimo Carella, Vittorio Sciruicchio, Marina de Tommaso, Antonella Liantonio, Annamaria De Luca, Angela La Neve, Paola Imbrici
The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam. Biomedicines 12 (8) (2024)
Di Stolfo Giuseppe, Sandra Mastroianno, Nicolò Soldato, Raimondo Salvatore Massaro, Giovanni De Luca, Davide Seripa, Maria Urbano, Carolina Gravina, Antonio Greco, Paola Siena, Marco Matteo Ciccone, Andrea Igoren Guaricci, Cinzia Forleo, Massimo Carella, Domenico Rosario Potenza
The Role of TOMM40 in Cardiovascular Mortality and Conduction Disorders: An Observational Study. Journal of clinical medicine 13 (11) (2024)
Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo, Marco Seri, Pietro Palumbo, Orazio Palumbo, Marco Castori, Emanuele Panza, Massimo Carella
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene. Genes 15 (4) (2024)
Giorgia Dinoi, Elena Conte, Orazio Palumbo, Mario Benvenuto, Maria Antonietta Coppola, Pietro Palumbo, Patrizia Lastella, Brigida Boccanegra, Ester Di Muro, Marco Castori, Massimo Carella, Vittorio Sciruicchio, Marina de Tommaso, Antonella Liantonio, Annamaria De Luca, Angela La Neve, Paola Imbrici
The Biallelic Inheritance of Two Novel SCN1A Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam. Biomedicines 12 (8) (2024)
Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo, Marco Seri, Pietro Palumbo, Orazio Palumbo, Marco Castori, Emanuele Panza, Massimo Carella
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene. Genes 15 (4) (2024)
Di Stolfo Giuseppe, Sandra Mastroianno, Nicolò Soldato, Raimondo Salvatore Massaro, Giovanni De Luca, Davide Seripa, Maria Urbano, Carolina Gravina, Antonio Greco, Paola Siena, Marco Matteo Ciccone, Andrea Igoren Guaricci, Cinzia Forleo, Massimo Carella, Domenico Rosario Potenza
The Role of TOMM40 in Cardiovascular Mortality and Conduction Disorders: An Observational Study. Journal of clinical medicine 13 (11) (2024)
Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo, Marco Seri, Pietro Palumbo, Orazio Palumbo, Marco Castori, Emanuele Panza, Massimo Carella
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene. Genes 15 (4) (2024)
Mario Benvenuto, Sofia Cesarini, Giulia Severi, Enrico Ambrosini, Angelo Russo, Marco Seri, Pietro Palumbo, Orazio Palumbo, Marco Castori, Emanuele Panza, Massimo Carella
Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in KMT2E Gene. Genes 15 (4) (2024)
Mario Benvenuto, Pietro Palumbo, Ester Di Muro, Concetta Simona Perrotta, Tommaso Mazza, Giuseppa Maria Luana Mandarà, Orazio Palumbo, Massimo Carella
Identification of a Novel FOXP1 Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment. Genes 14 (10) (2023)
Francesco Cecere, Laura Pignata, Bruno Hay Mele, Abu Saadat, Emilia D'Angelo, Orazio Palumbo, Pietro Palumbo, Massimo Carella, Gioacchino Scarano, Giovanni Battista Rossi, Claudia Angelini, Angela Sparago, Flavia Cerrato, Andrea Riccio
Co-Occurrence of Beckwith-Wiedemann Syndrome and Early-Onset Colorectal Cancer. Cancers 15 (7) (2023)
Annabella Di Giorgio, Antonio Mirijello, Clara De Gennaro, Andrea Fontana, Paolo Emilio Alboini, Lucia Florio, Vincenzo Inchingolo, Michele Zarrelli, Giuseppe Miscio, Pamela Raggi, Carmen Marciano, Annibale Antonioni, Salvatore De Cosmo, Filippo Aucella, Antonio Greco, Massimo Carella, Massimiliano Copetti, Maurizio Angelo Leone
Factors Associated with Delirium in COVID-19 Patients and Their Outcome: A Single-Center Cohort Study. Diagnostics (Basel, Switzerland) 12 (2) (2022)
Giovanni Innella, Emanuela Scarano, Pietro Palumbo, Massimo Carella, Giulia Severi
New clinical features in an adult patient with Skraban-Deardorff syndrome. American journal of medical genetics. Part A (2022)
Eleonora Russo, Giulio Russo, Mauro Cassese, Maurizio Braccio, Massimo Carella, Paolo Compagnucci, Antonio Dello Russo, Michela Casella
The Role of Cardiac Resynchronization Therapy for the Management of Functional Mitral Regurgitation. Cells 11 (15) (2022)
Pietro Palumbo, Ester Di Muro, Maria Accadia, Mario Benvenuto, Marilena Carmela Di Giacomo, Stefano Castellana, Tommaso Mazza, Marco Castori, Orazio Palumbo, Massimo Carella
Whole Exome Sequencing Reveals a Novel AUTS2 In-Frame Deletion in a Boy with Global Developmental Delay, Absent Speech, Dysmorphic Features, and Cerebral Anomalies. Genes 12 (2) (2021)
Maurizio Delvecchio, Federica Ortolani, Orazio Palumbo, Concetta Aloi, Alessandro Salina, Francesco Claudio Susca, Pietro Palumbo, Massimo Carella, Nicoletta Resta, Elvira Piccinno
A Novel Genetic Variant in the WFS1 Gene in a Patient with Partial Uniparental Mero-Isodisomy of Chromosome 4. International journal of molecular sciences 22 (15) (2021)
Laura Pignata, Angela Sparago, Orazio Palumbo, Elena Andreucci, Elisabetta Lapi, Romano Tenconi, Massimo Carella, Andrea Riccio, Flavia Cerrato
Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome. Genes 12 (4) (2021)
Antonio Mirijello, Michele Zarrelli, Giuseppe Miscio, Angela de Matthaeis, Pamela Piscitelli, Cristiano Matteo Carbonelli, Annabella Di Giorgio, Michele Inglese, Gianluca Libero Ciliberti, Carmen Marciano, Cristina Borelli, Doriana Vergara, Giulia Castorani, Grazia Vittoria Orciulo, Lazzaro Di Mauro, Massimo Carella, Annalisa Simeone, Massimiliano Copetti, Maurizio Angelo Leone, Salvatore De Cosmo, null The Css-Covid-Group
Diagnosis of COVID-19 in Patients with Negative Nasopharyngeal Swabs: Reliability of Radiological and Clinical Diagnosis and Accuracy Versus Serology. Diagnostics (Basel, Switzerland) 11 (3) (2021)
Ester Di Muro, Pietro Palumbo, Mario Benvenuto, Maria Accadia, Marilena Carmela Di Giacomo, Sergio Manieri, Rosaria Abate, Maria Tagliente, Stefano Castellana, Tommaso Mazza, Massimo Carella, Orazio Palumbo
Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder. Genes 12 (8) (2021)
Sandra Mastroianno, Michele Germano, Angela Maggio, Raimondo Massaro, Domenico Rosario Potenza, Aldo Russo, Massimo Carella, Di Stolfo Giuseppe
Electrocardiogram in Friedreich's ataxia: A short-term surrogate endpoint for treatment efficacy. Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc 26 (4) (2020)
Flavia Angela Maria Maggiolini, Stuart Cantsilieris, Pietro D'Addabbo, Michele Manganelli, Bradley P Coe, Beth L Dumont, Ashley D Sanders, Andy Wing Chun Pang, Mitchell R Vollger, Orazio Palumbo, Pietro Palumbo, Maria Accadia, Massimo Carella, Evan E Eichler, Francesca Antonacci
Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus. PLoS genetics 15 (3) (2019)
Pietro Palumbo, Maria Accadia, Maria P Leone, Teresa Palladino, Raffaella Stallone, Massimo Carella, Orazio Palumbo
Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome. American journal of medical genetics. Part A 176 (2) (2017)
Rita Fischetto, Orazio Palumbo, Federica Ortolani, Pietro Palumbo, Maria Pia Leone, Francesco Andrea Causio, Sabino Pesce, Maria Christina Digilio, Massimo Carella, Francesco Papadia
Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature. American journal of medical genetics. Part A 173 (7) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Massimo Carella