Flavio Faletra

Affiliations
  • Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.

Publications (53)

Could the MED13 mutations manifest as a Kabuki-like syndrome?

American journal of medical genetics. Part A
Avec: Laura De Nardi , Flavio Faletra , Adamo Pio D'Adamo , Anna Monica Rosaria Bianco , Emmanouil Athanasakis , Irene Bruno , Egidio Barbi

Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.

American journal of medical genetics. Part A
Avec: Charlotte von der Lippe , Kristian Tveten , Trine E Prescott , Øystein L Holla , Øyvind L Busk , Katherine B Burke , Francis H Sansbury , Júlia Baptista , Andrew E Fry , Derek Lim , Stephen Jolles , Jennifer Evans , Deborah Osio , Carol Macmillan , Irene Bruno , Flavio Faletra , Salvador Climent , Roser Urreitzi , Janet Hoenicka , Francesc Palau , Ana S A Cohen , Kendra Engleman , Dihong Zhou , Shivarajan M Amudhavalli , Médéric Jeanne , Frédérique Bonnet-Brilhault , Jonathan Lévy , Séverine Drunat , Nicolas Derive , Marte G Haug , Wenche M Thorstensen

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

American journal of human genetics
Avec: Francesca Clementina Radio , Kaifang Pang , Andrea Ciolfi , Michael A Levy , Andrés Hernández-García , Lucia Pedace , Francesca Pantaleoni , Zhandong Liu , Elke de Boer , Adam Jackson , Alessandro Bruselles , Haley McConkey , Emilia Stellacci , Stefania Lo Cicero , Marialetizia Motta , Rosalba Carrozzo , Maria Lisa Dentici , Kirsty McWalter , Megha Desai , Kristin G Monaghan , Aida Telegrafi , Christophe Philippe , Antonio Vitobello , Margaret Au , Katheryn Grand , Pedro A Sanchez-Lara , Joanne Baez , Kristin Lindstrom , Peggy Kulch , Jessica Sebastian , Suneeta Madan-Khetarpal , Chelsea Roadhouse , Jennifer J MacKenzie , Berrin Monteleone , Carol J Saunders , July K Jean Cuevas , Laura Cross , Dihong Zhou , Taila Hartley , Sarah L Sawyer , Fabíola Paoli Monteiro , Tania Vertemati Secches , Fernando Kok , Laura E Schultz-Rogers , Erica L Macke , Eva Morava , Eric W Klee , Jennifer Kemppainen , Maria Iascone , Angelo Selicorni , Romano Tenconi , David J Amor , Lynn Pais , Lyndon Gallacher , Peter D Turnpenny , Karen Stals , Sian Ellard , Sara Cabet , Gaetan Lesca , Joset Pascal , Katharina Steindl , Sarit Ravid , Karin Weiss , Alison M R Castle , Melissa T Carter , Louisa Kalsner , Bert B A de Vries , Bregje W van Bon , Marijke R Wevers , Rolph Pfundt , Alexander P A Stegmann , Bronwyn Kerr , Helen M Kingston , Kate E Chandler , Willow Sheehan , Abdallah F Elias , Deepali N Shinde , Meghan C Towne , Nathaniel H Robin , Dana Goodloe , Adeline Vanderver , Omar Sherbini , Krista Bluske , R Tanner Hagelstrom , Caterina Zanus , Flavio Faletra , Luciana Musante , Evangeline C Kurtz-Nelson , Rachel K Earl , Britt-Marie Anderlid , Gilles Morin , Marjon van Slegtenhorst , Karin E M Diderich , Alice S Brooks , Joost Gribnau , Ruben G Boers , Teresa Robert Finestra , Lauren B Carter , Anita Rauch , Paolo Gasparini , Kym M Boycott , Tahsin Stefan Barakat , John M Graham , Laurence Faivre , Siddharth Banka , Tianyun Wang , Evan E Eichler , Manuela Priolo , Bruno Dallapiccola , Lisenka E L M Vissers , Bekim Sadikovic , Daryl A Scott , Jimmy Lloyd Holder , Marco Tartaglia

TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.

American journal of medical genetics. Part A
Avec: 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 Murphy , Flora Maria Murru , Caterina Zanus , Andrea Magnolato , Martina La Bianca , Agnese Feresin , Giorgia Girotto , Paolo Gasparini , Paola Costa , Marco Carrozzi

Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures.

Genes
Avec: Beatrice Spedicati , Anna Morgan , Giulia Pianigiani , Luciana Musante , Elisa Rubinato , Aurora Santin , Giuseppe Giovanni Nardone , Flavio Faletra , Giorgia Girotto

Genetic variants in patients with recurrent pericarditis.

Journal of cardiovascular medicine (Hagerstown, Md.)
Avec: Massimo Imazio , Flavio Faletra , Jessica Zucco , Catia Mio , Matteo Carraro , Alberto Maria Gava , Marzia De Biasio , Giuseppe Damante , Valentino Collini

Epileptic encephalopathy with microcephaly in a patient with asparagine synthetase deficiency: a video-EEG report.

Epileptic disorders : international epilepsy journal with videotape
Avec: Paola Costa , Caterina Zanus , Flavio Faletra , Giulia Ventura , Giulia Maria di Marzio , Chiara Cervesi , Marco Carrozzi

Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis.

Molecular genetics & genomic medicine
Avec: Roberta Bottega , Stefania Cappellani , Antonella Fabretto , Alessandro Mauro Spinelli , Giovanni Maria Severini , Michelangelo Aloisio , Michela Faleschini , Emmanouil Athanasakis , Irene Bruno , Flavio Faletra , Vanna Pecile

Conjunctival lymphangiectasia in a pediatric patient with neurofibromatosis type 1.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Avec: Silvio Polizzi , Roberto Caputo , Flavio Faletra , Giovanna Ferrara

The structural heart disease interventional imager rationale, skills and training: a position paper of the European Association of Cardiovascular Imaging.

European heart journal. Cardiovascular Imaging
Avec: Eustachio Agricola , Francesco Ancona , Eric Brochet , Erwan Donal , Marc Dweck , Francesco Faletra , Patrizio Lancellotti , Hani Mahmoud-Elsayed , Nina Ajmone Marsan , Pal Maurovich-Hovart , Mark Monaghan , José Ribeiro , Leyla Elif Sade , Martin Swaans , Ralph Stephan Von Bardeleben , Nina Wunderlich , Jose-Luis Zamorano , Bogdan A Popescu , Bernard Cosyns , Thor Edvardsen , Auteur inconnu

Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling.

Frontiers in genetics
Avec: Agnese Feresin , Tamara Stampalija , Stefania Cappellani , Rossana Bussani , Flavio Faletra , Flora Murru , Sheila Ulivi , Sarah Suergiu , Pasquale Savarese , Antonio Pedicini , Margherita Policicchio , Raffaella Ruggiero , Barbara Bosio , Giovanni Savarese , Carmela Ardisia

Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
Avec: Ilaria Fantasia , Flavio Faletra , Rossana Bussani , Flora Maria Murru , Chiara Ottaviani Giammarco , Laura Travan , Fabio Sirchia , Agnese Feresin , Tamara Stampalija

The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases.

Clinical genetics
Avec: Catia Mio , Jessica Zucco , Dora Fabbro , Elisa Bregant , Federica Baldan , Lorenzo Allegri , Angela Valentina D'Elia , Valentino Collini , Massimo Imazio , Giuseppe Damante , Flavio Faletra

Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes.

Inflammation research : official journal of the European Histamine Research Society ... [et al.]
Avec: Elisa Piscianz , Ester Conversano , Anna Monica Bianco , Flavio Faletra , Alberto Tommasini , Erica Valencic

Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss.

Human mutation
Avec: Anna Morgan , Daniel C Koboldt , Elizabeth S Barrie , Erin R Crist , Gema García García , Massimo Mezzavilla , Flavio Faletra , Theresa Mihalic Mosher , Richard K Wilson , Catherine Blanchet , Kandamurugu Manickam , Anne-Francoise Roux , Paolo Gasparini , Daniele Dell'Orco , Giorgia Girotto

Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.

Human molecular genetics
Avec: Sissy Bassani , Edward van Beelen , Mireille Rossel , Norine Voisin , Anna Morgan , Yoan Arribat , Nicolas Chatron , Jacqueline Chrast , Massimiliano Cocca , Benjamin Delprat , Flavio Faletra , Giuliana Giannuzzi , Nicolas Guex , Roxane Machavoine , Sylvain Pradervand , Jeroen J Smits , Jiddeke M van de Kamp , Alban Ziegler , Francesca Amati , Sandrine Marlin , Hannie Kremer , Heiko Locher , Tangui Maurice , Paolo Gasparini , Giorgia Girotto , Alexandre Reymond

Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates.

European journal of human genetics : EJHG
Avec: Beatrice Spedicati , Massimiliano Cocca , Roberto Palmisano , Flavio Faletra , Caterina Barbieri , Margherita Francescatto , Massimo Mezzavilla , Anna Morgan , Giulia Pelliccione , Paolo Gasparini , Giorgia Girotto

Genomic integrity and mitochondrial metabolism defects in Warsaw syndrome cells: a comparison with Fanconi anemia.

Journal of cellular physiology
Avec: 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

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

The Journal of clinical endocrinology and metabolism
Avec: Félixe Pelletier , Stefanie Perrier , Ferdy K Cayami , Amytice Mirchi , Stephan Saikali , Luan T Tran , Nicole Ulrick , Kether Guerrero , Emmanouil Rampakakis , Rosalina M L van Spaendonk , Sakkubai Naidu , Daniela Pohl , William T Gibson , Michelle Demos , Cyril Goizet , Ingrid Tejera-Martin , Ana Potic , Brent L Fogel , Bernard Brais , Michel Sylvain , Guillaume Sébire , Charles Marques Lourenço , Joshua L Bonkowsky , Coriene Catsman-Berrevoets , Pedro S Pinto , Sandya Tirupathi , Petter Strømme , Ton de Grauw , Dorota Gieruszczak-Bialek , Ingeborg Krägeloh-Mann , Hanna Mierzewska , Heike Philippi , Julia Rankin , Tahir Atik , Brenda Banwell , William S Benko , Astrid Blaschek , Annette Bley , Eugen Boltshauser , Drago Bratkovic , Klara Brozova , Icíar Cimas , Christopher Clough , Bernard Corenblum , Argirios Dinopoulos , Gail Dolan , Flavio Faletra , Raymond Fernandez , Janice Fletcher , Maria Eugenia Garcia Garcia , Paolo Gasparini , Janina Gburek-Augustat , Dolores Gonzalez Moron , Aline Hamati , Inga Harting , Christoph Hertzberg , Alan Hill , Grace M Hobson , A Micheil Innes , Marcelo Kauffman , Susan M Kirwin , Gerhard Kluger , Petra Kolditz , Urania Kotzaeridou , Roberta La Piana , Eriskay Liston , William McClintock , Meriel McEntagart , Fiona McKenzie , Serge Melançon , Anjum Misbahuddin , Mohnish Suri , Fernando I Monton , Sebastien Moutton , Raymond P J Murphy , Miriam Nickel , Hüseyin Onay , Simona Orcesi , Ferda Özkınay , Steffi Patzer , Helio Pedro , Sandra Pekic , Mercedes Pineda Marfa , Amy Pizzino , Barbara Plecko , Bwee Tien Poll-The , Vera Popovic , Dietz Rating , Marie-France Rioux , Norberto Rodriguez Espinosa , Anne Ronan , John R Ostergaard , Elsa Rossignol , Rocio Sanchez-Carpintero , Anna Schossig , Nesrin Senbil , Laura K Sønderberg Roos , Cathy A Stevens , Matthis Synofzik , László Sztriha , Daniel Tibussek , Dagmar Timmann , Davide Tonduti , Bart P van de Warrenburg , Maria Vázquez-López , Sunita Venkateswaran , Pontus Wasling , Evangeline Wassmer , Richard I Webster , Gert Wiegand , Grace Yoon , Joost Rotteveel , Raphael Schiffmann , Marjo S van der Knaap , Adeline Vanderver , Gabriel Á Martos-Moreno , Constantin Polychronakos , Nicole I Wolf , Geneviève Bernard

Lights and Shadows in the Genetics of Syndromic and Non-Syndromic Hearing Loss in the Italian Population.

Genes
Avec: 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

Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry.

International journal of environmental research and public health
Avec: Daniela Dibello , Lucio Torelli , Valentina Di Carlo , Adamo Pio d'Adamo , Flavio Faletra , Alessandro Mangogna , Giulia Colin

Prenatal diagnosis of isolated clubfoot: Diagnostic accuracy and long-term postnatal outcomes.

European journal of obstetrics, gynecology, and reproductive biology
Avec: Ilaria Fantasia , Daniela Dibello , Valentina Di Carlo , Giulia Colin , Moira Barbieri , Chiara Belcaro , Elena Magni , Flavio Faletra , Travan Laura , Tamara Stampalija

Pericardiocentesis Complicated by Pneumopericardium.

JACC. Case reports
Avec: Tardu Özkartal , Susanne A Schlossbauer , Francesco Faletra , Giovanni Pedrazzini

Additional value of cardiac magnetic resonance feature tracking parameters for the evaluation of the arrhythmic risk in patients with mitral valve prolapse.

Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance
Avec: Marco Guglielmo , Dimitri Arangalage , Marco Augusto Bonino , Gianmarco Angelini , Michela Bonanni , Gianluca Pontone , Patrizio Pascale , Laura Anna Leo , Francesco Faletra , Jurg Schwitter , Giovanni Pedrazzini , Pierre Monney , Anna Giulia Pavon

Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature.

Italian journal of pediatrics
Avec: Pierandrea Elefante , Beatrice Spedicati , Flavio Faletra , Laura Pignata , Flavia Cerrato , Andrea Riccio , Egidio Barbi , Luigi Memo , Laura Travan

Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss.

Hearing research
Avec: Stefania Lenarduzzi , Anna Morgan , Flavio Faletra , Stefania Cappellani , Marcello Morgutti , Massimo Mezzavilla , Adelaide Peruzzi , Sara Ghiselli , Umberto Ambrosetti , Claudio Graziano , Marco Seri , Paolo Gasparini , Giorgia Girotto

Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series.

Calcified tissue international
Avec: Maria Gnoli , Eric Lodewijk Staals , Laura Campanacci , Maria Francesca Bedeschi , Flavio Faletra , Salvatore Gallone , Agostino Gaudio , Teresa Mattina , Fiorella Gurrieri , Antonio Percesepe , Iria Neri , Annalucia Virdi , Morena Tremosini , Annamaria Milanesi , Evelise Brizola , Elena Pedrini , Luca Sangiorgi

Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study.

Molecular genetics & genomic medicine
Avec: Vera Uliana , Paola Sebastio , Matteo Riva , Diana Carli , Claudio Ruberto , Laura Bianchi , Claudio Graziano , Irene Capelli , Flavio Faletra , Roberto Pillon , Teresa Mattina , Alberto Sensi , Francesco Bonatti , Antonio Percesepe

Prenatal findings of cataract and arthrogryposis: recurrence of cerebro-oculo-facio-skeletal syndrome and review of differential diagnosis.

BMC medical genomics
Avec: Fabio Sirchia , Ilaria Fantasia , Agnese Feresin , Elisa Giorgio , Flavio Faletra , Denise Mordeglia , Moira Barbieri , Valentina Guida , Alessandro De Luca , Tamara Stampalija

Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.

Genes
Avec: Alessandro Orsini , Andrea Santangelo , Francesca Bravin , Alice Bonuccelli , Diego 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 Operto , Grazia Pastorino , Esra Sarigecili , Esra Sardaroglu , Cetin Okuyaz , Sevgan Bozdogan , Luciana Musante , Flavio Faletra , Caterina Zanus , Alessandro Ferretti , Federico Vigevano , Pasquale Striano , Duccio Maria Cordelli

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
Avec: 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

Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature.

Italian journal of pediatrics
Avec: Francesco Baldo , Laura Morra , Agnese Feresin , Flavio Faletra , Yasmin Al Naber , Luigi Memo , Laura Travan

The Role of Cardiovascular Magnetic Resonance in Patients with Mitral Regurgitation.

Journal of cardiovascular development and disease
Avec: Anna Giulia Pavon , Marco Guglielmo , Pierpaolo Mattia Mennilli , Mariana B L Falcão , Luca Bergamaschi , David Filip Costantin , Michele Vivaldo , Laura Anna Leo , Susanne Schlossbauer , Christopher W Roy , Matthias Stuber , Giovanni Pedrazzini , Francesco Faletra

A new neurodevelopmental disorder linked to heterozygous variants in UNC79.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Allan Bayat , Zhenjiang Liu , Sheng Luo , Christina D Fenger , Anne F Højte , Bertrand Isidor , Benjamin Cogne , Austin Larson , Caterina Zanus , Flavio Faletra , Boris Keren , Luciana Musante , Isabelle Gourfinkel-An , Charles Perrine , Caroline Demily , Gaeton Lesca , Weiping Liao , Dejian Ren

A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.

Journal of human genetics
Avec: Jessica Zucco , Federica Baldan , Lorenzo Allegri , Elisa Bregant , Nadia Passon , Alessandra Franzoni , Angela Valentina D'Elia , Flavio Faletra , Giuseppe Damante , Catia Mio

Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance.

Gene
Avec: Federica Baldan , Eliana Demori , Chiara Gnan , Nadia Passon , Giuseppe Damante , Catia Mio , Lorenzo Allegri , Anna Morgan , Giorgia Girotto , Federica De Paoli , Ivan Limongelli , Susanna Zucca , Flavio Faletra

A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet.

Italian journal of pediatrics
Avec: Gianluca Tornese , Giuseppa Patti , Maria Chiara Pellegrin , Paola Costa , Flavio Faletra , Elena Faleschini , Egidio Barbi

First-trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low-risk population?

Prenatal diagnosis
Avec: Ilaria Fantasia , Tamara Stampalija , Fabio Sirchia , Irene Della Pietà , Chiara Ottaviani Giammarco , Francesca Guidolin , Mariachiara Quadrifoglio , Valentina Barresi , Laura Travan , Flavio Faletra

An unusual diagnosis for an usual test.

Italian journal of pediatrics
Avec: Andrea Trombetta , Vanessa Migliarino , Flavio Faletra , Egidio Barbi , Gianluca Tornese

Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4.

Journal of human genetics
Avec: Roberta Bottega , Maria D Perrone , Katy Vecchiato , Andrea Taddio , Subrata Sabui , Vanna Pecile , Hamid M Said , Flavio Faletra

Two further patients with Warsaw breakage syndrome. Is a mild phenotype possible?

Molecular genetics & genomic medicine
Avec: Roberta Bottega , Luisa M R Napolitano , Anna Carbone , Enrico Cappelli , Fabio Corsolini , Silvia Onesti , Anna Savoia , Paolo Gasparini , Flavio Faletra

Description of a peculiar alternating ictal electroclinical pattern in a young boy with a novel SPATA5 mutation.

Epileptic disorders : international epilepsy journal with videotape
Avec: Caterina Zanus , Paola Costa , Flavio Faletra , Luciana Musante , Angelo Russo , Luisa Grazian , Marco Carrozzi

Immunity and Genetics at the Revolving Doors of Diagnostics in Primary Immunodeficiencies.

Diagnostics (Basel, Switzerland)
Avec: Francesco Rispoli , Erica Valencic , Martina Girardelli , Alessia Pin , Alessandra Tesser , Elisa Piscianz , Valentina Boz , Flavio Faletra , Giovanni Maria Severini , Andrea Taddio , Alberto Tommasini

Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies.

Frontiers in pediatrics
Avec: Erica Valencic , Prisca Da Lozzo , Gianluca Tornese , Elena Ghirigato , Francesco Facca , Elisa Piscianz , Flavio Faletra , Andrea Taddio , Alberto Tommasini , Andrea Magnolato

There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss.

Biomedicines
Avec: Anna Morgan , Flavio Faletra , Giulia Severi , Martina La Bianca , Laura Licchetta , Paolo Gasparini , Claudio Graziano , Giorgia Girotto

The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.

Genes
Avec: Luciana Musante , Paola Costa , Caterina Zanus , Flavio Faletra , Flora M Murru , Anna M Bianco , Martina La Bianca , Giulia Ragusa , Emmanouil Athanasakis , Adamo P d'Adamo , Marco Carrozzi , Paolo Gasparini

Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying

Genes
Avec: 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 , Marco Tartaglia

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.

American journal of medical genetics. Part A
Avec: 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

What Is the Exact Contribution of

Genes
Avec: 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 P d'Adamo

Multimodality imaging for patient selection, procedural guidance, and follow-up of transcatheter interventions for structural heart disease: a consensus document of the EACVI Task Force on Interventional Cardiovascular Imaging: part 1: access routes, transcatheter aortic valve implantation, and transcatheter mitral valve interventions.

European heart journal. Cardiovascular Imaging
Avec: Eustachio Agricola , Francesco Ancona , Thomas Bartel , Eric Brochet , Marc Dweck , Francesco Faletra , Patrizio Lancellotti , Hani Mahmoud-Elsayed , Nina Ajmone Marsan , Pal Maurovich-Hovart , Mark Monaghan , Gianluca Pontone , Leyla Elif Sade , Martin Swaans , Ralph Stephan Von Bardeleben , Nina Wunderlich , Jose-Luis Zamorano , Bogdan A Popescu , Bernard Cosyns , Erwan Donal

The clinical impact of the first-trimester nuchal translucency between the 95th-99th percentiles.

Prenatal diagnosis
Avec: Ilaria Fantasia , Silvia Catagini , Giulia Zamagni , Pantaleo Greco , Irene Bianchini , Sofia Bussolaro , Mariachiara Quadrifoglio , Leila Lo Bello , Lorenzo Monasta , Giuseppe Ricci , Flavio Faletra , Agnese Feresin , Tamara Stampalija

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.

American journal of human genetics
Avec: Elke Bogaert , Aurore Garde , Thierry Gautier , Kathleen Rooney , Yannis Duffourd , Pontus LeBlanc , Emma van Reempts , Frederic Tran Mau-Them , Ingrid M Wentzensen , Kit Sing Au , Kate Richardson , Hope Northrup , Vincent Gatinois , David Geneviève , Raymond J Louie , Michael J Lyons , Lone Walentin Laulund , Charlotte Brasch-Andersen , Trine Maxel Juul , Fatima El It , Nathalie Marle , Patrick Callier , Raissa Relator , Sadegheh Haghshenas , Haley McConkey , Jennifer Kerkhof , Claudia Cesario , Antonio Novelli , Nicola Brunetti-Pierri , Michele Pinelli , Perrine Pennamen , Sophie Naudion , Marine Legendre , Cécile Courdier , Aurelien Trimouille , Martine Doco Fenzy , Lynn Pais , Alison Yeung , Kimberly Nugent , Elizabeth R Roeder , Tadahiro Mitani , Jennifer E Posey , Daniel Calame , Hagith Yonath , Jill A Rosenfeld , Luciana Musante , Flavio Faletra , Francesca Montanari , Giovanna Sartor , Alessandra Vancini , Marco Seri , Claude Besmond , Karine Poirier , Laurence Hubert , Dimitri Hemelsoet , Arnold Munnich , James R Lupski , Christophe Philippe , Christel Thauvin-Robinet , Laurence Faivre , Bekim Sadikovic , Jérôme Govin , Bart Dermaut , Antonio Vitobello

Prevalence of Diastolic and Systolic Mitral Annular Disjunction in Patients with Mitral Valve Prolapse.

Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography
Avec: Giorgio Fiore , Vincenzo Rizza , Giacomo Ingallina , Francesco Ancona , Stefano Stella , Federico Biondi , Paola Cunsolo , Carlo Gaspardone , Davide Romagnolo , Annamaria Tavernese , Martina Belli , Davide Margonato , Anna Palmisano , Antonio Esposito , Francesco Maisano , Francesco Faletra , Eustachio Agricola

Réseau de co-auteurs

Paolo Gasparini 11 collaborations
Giorgia Girotto 9 collaborations
Luciana Musante 8 collaborations
Anna Morgan 8 collaborations
Caterina Zanus 7 collaborations
Agnese Feresin 7 collaborations
Francesco Faletra 6 collaborations
Tamara Stampalija 6 collaborations
Paola Costa 5 collaborations
Beatrice Spedicati 5 collaborations
Roberta Bottega 5 collaborations
Ilaria Fantasia 5 collaborations
Fabio Sirchia 5 collaborations
Egidio Barbi 4 collaborations
Martina La Bianca 4 collaborations
Marco Carrozzi 4 collaborations
Catia Mio 4 collaborations
Giuseppe Damante 4 collaborations
Stefania Cappellani 4 collaborations
Laura Travan 4 collaborations
Claudio Graziano 4 collaborations
Marco Seri 4 collaborations
Emmanouil Athanasakis 3 collaborations
Irene Bruno 3 collaborations
Flora Maria Murru 3 collaborations
Jessica Zucco 3 collaborations
Michela Faleschini 3 collaborations
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