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Flavio Faletra

Scopus Author ID Scopus Author ID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2020-2023
Publications (10 Years): 19

Top Venues

Genes

American journal of medical genetics. Part A

Molecular genetics & genomic medicine

Biomedicines

IRCCS materno infantile Burlo Garofolo

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

Affiliation History

IRCCS materno infantile Burlo Garofolo

Italy

Publications

Mariateresa Di Stazio, Caterina Zanus, Flavio Faletra, Alessia Pesaresi, Ilaria Ziccardi, Anna Morgan, Giorgia Girotto, Paola Costa, Marco Carrozzi, Adamo Pio D'Adamo, Luciana Musante
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B -Associated Disorders. Genes 14 (2) (2023)
Mariateresa Di Stazio, Caterina Zanus, Flavio Faletra, Alessia Pesaresi, Ilaria Ziccardi, Anna Morgan, Giorgia Girotto, Paola Costa, Marco Carrozzi, Adamo Pio D'Adamo, Luciana Musante
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B -Associated Disorders. Genes 14 (2) (2023)
Mariateresa Di Stazio, Caterina Zanus, Flavio Faletra, Alessia Pesaresi, Ilaria Ziccardi, Anna Morgan, Giorgia Girotto, Paola Costa, Marco Carrozzi, Adamo Pio D'Adamo, Luciana Musante
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B -Associated Disorders. Genes 14 (2) (2023)
Mariateresa Di Stazio, Caterina Zanus, Flavio Faletra, Alessia Pesaresi, Ilaria Ziccardi, Anna Morgan, Giorgia Girotto, Paola Costa, Marco Carrozzi, Adamo Pio D'Adamo, Luciana Musante
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B -Associated Disorders. Genes 14 (2) (2023)
Anna Monica Bianco, Giulia Ragusa, Valentina Di Carlo, Flavio Faletra, Mariateresa Di Stazio, Costantina Racano, Giovanni Trisolino, Stefania Cappellani, Maurizio De Pellegrin, Ignazio d'Addetta, Giuseppe Carluccio, Sergio Monforte, Antonio Andreacchio, Daniela Dibello, Adamo Pio D'Adamo
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study. Genes 13 (11) (2022)
Daniela Dibello, Lucio Torelli, Valentina Di Carlo, Adamo Pio D'Adamo, Flavio Faletra, Alessandro Mangogna, Giulia Colin
Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry. International journal of environmental research and public health 19 (9) (2022)
Mary R Sy, Jaynee Chauhan, Katrina Prescott, Aliza Imam, Alison Kraus, Ana Beleza, Lee Salkeld, Saraswati Hosdurga, Michael Parker, Pradeep Vasudevan, Lily Islam, Himanshu Goel, Nicole Bain, Soo-Mi Park, Shehla Mohammed, Klaus Dieterich, Charles Coutton, Véronique Satre, Gaëlle Vieville, Alan Donaldson, Claire Beneteau, Jamal Ghoumid, Kris Van Den Bogaert, Anneleen Boogaerts, Elise Boudry, Clémence Vanlerberghe, Florence Petit, Laura Bernardini, Barbara Torres, Teresa Mattina, Diana Carli, Giorgia Mandrile, Michele Pinelli, Nicola Brunetti-Pierri, Katherine Neas, Rachel Beddow, Pernille M Tørring, Flavio Faletra, Beatrice Spedicati, Paolo Gasparini, Alessandro Mussa, Giovanni Battista Ferrero, Anne Lampe, Wayne Lam, Weimin Bi, Carlos A Bacino, Akela Kuwahara, Jeffrey O Bush, Xiaonan Zhao, Pamela N Luna, Chad A Shaw, Jill A Rosenfeld, Daryl A Scott
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus. American journal of medical genetics. Part A 188 (12) (2022)
Luciana Musante, Flavio Faletra, Kolja Meier, Hoda Tomoum, Paria Najarzadeh Torbati, Edward Blair, Sally North, Jutta Gärtner, Susann Diegmann, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Ehsan Ghayoor Karimiani, David P Murphy, Flora Maria Murru, Caterina Zanus, Andrea Magnolato, Martina La Bianca, Agnese Feresin, Giorgia Girotto, Paolo Gasparini, Paola Costa, Marco Carrozzi
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition. American journal of medical genetics. Part A 188 (9) (2022)
Marco Ferilli, Andrea Ciolfi, Lucia Pedace, Marcello Niceta, Francesca Clementina Radio, Simone Pizzi, Evelina Miele, Camilla Cappelletti, Cecilia Mancini, Tiziana Galluccio, Marco Andreani, Maria Iascone, Luigi Chiriatti, Antonio Novelli, Alessia Micalizzi, Marta Matraxia, Lucia Menale, Flavio Faletra, Paolo Prontera, Alba Pilotta, Maria Francesca Bedeschi, Rossella Capolino, Anwar Baban, Marco Seri, Corrado Mammì, Giuseppe Zampino, Maria Cristina Digilio, Bruno Dallapiccola, Manuela Priolo, Tartaglia Marco
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants. Genes 13 (11) (2022)
Francesco Baldo, Laura Morra, Agnese Feresin, Flavio Faletra, Yasmin Al Naber, Luigi Memo, Laura Travan
Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature. Italian journal of pediatrics 48 (1) (2022)
Luciana Musante, Paola Costa, Caterina Zanus, Flavio Faletra, Flora Maria Murru, Anna Monica Bianco, Martina La Bianca, Giulia Ragusa, Emmanouil Athanasakis, Adamo Pio D'Adamo, Marco Carrozzi, Paolo Gasparini
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge. Genes 13 (3) (2022)
Alessandro Orsini, Andrea Santangelo, Francesca Bravin, Alice Bonuccelli, Diego Giampietro Peroni, Roberta Battini, Thomas Foiadelli, Veronica Bertini, Angelo Valetto, Michele Iacomino, Vincenzo Nigro, Anna Laura Torella, Marcello Scala, Valeria Capra, Maria Stella Vari, Anna Fetta, Veronica Di Pisa, Francesca Montanari, Roberta Epifanio, Paolo Bonanni, Roberto Giorda, Francesca Felicia Operto, Grazia Maria Giovanna Pastorino, Esra Sarigecili, Esra Sardaroglu, Cetin Okuyaz, Sevgan Bozdogan, Luciana Musante, Flavio Faletra, Caterina Zanus, Alessandro Ferretti, Federico Vigevano, Pasquale Striano, Duccio Maria Cordelli
Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients. Genes 13 (2) (2022)
Ilaria Persico, Agnese Feresin, Michela Faleschini, Giorgia Fontana, Fabio Sirchia, Flavio Faletra, Martina La Bianca, Sarah Suergiu, Marcello Morgutti, Massimo Maschio, Adamo Pio D'Adamo, Karen S Raraigh, Anna Savoia, Roberta Bottega
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis. Molecular genetics & genomic medicine 10 (6) (2022)
Beatrice Spedicati, Anna Morgan, Giulia Pianigiani, Luciana Musante, Elisa Rubinato, Aurora Santin, Giuseppe Giovanni Nardone, Flavio Faletra, Giorgia Girotto
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures. Genes 13 (11) (2022)
Francesco Baldo, Andrea Magnolato, Irene Bruno, Flavio Faletra, Marco Carbone, Egidio Barbi
A child without kneecaps. Journal of paediatrics and child health (2021)
Anna Morgan, Flavio Faletra, Giulia Severi, Martina La Bianca, Laura Licchetta, Paolo Gasparini, Claudio Graziano, Giorgia Girotto
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss. Biomedicines 10 (1) (2021)
Francesco Rispoli, Erica Valencic, Martina Girardelli, Alessia Pin, Alessandra Tesser, Elisa Piscianz, Valentina Boz, Flavio Faletra, Giovanni Maria Severini, Andrea Taddio, Alberto Tommasini
Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies. Diagnostics (Basel, Switzerland) 11 (3) (2021)
Roberta Bottega, Silvia Ravera, Luisa M R Napolitano, Viviana Chiappetta, Nicoletta Zini, Barbara Crescenzi, Silvia Arniani, Michela Faleschini, Giuseppe Cortone, Flavio Faletra, Barbara Medagli, Fabio Sirchia, Martina Moretti, Job de Lange, Enrico Cappelli, Cristina Mecucci, Silvia Onesti, Francesca M Pisani, Anna Savoia
Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia. Journal of cellular physiology 236 (8) (2021)
Anna Morgan, Stefania Lenarduzzi, Beatrice Spedicati, Elisabetta Cattaruzzi, Flora Maria Murru, Giulia Pelliccione, Daniela Mazzà, Marcella Zollino, Claudio Graziano, Umberto Ambrosetti, Marco Seri, Flavio Faletra, Giorgia Girotto
Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population. Genes 11 (11) (2020)

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Publication Activity (10 Years)

Top Topics

Top Venues

Flavio Faletra