Mancini Cecilia - Genetics and Rare Diseases Research Division, IRCCS

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论文共 70 篇作者统计合作学者相似作者

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Genomic Testing in Adults with Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing As a First-Tier Approach

Roberta Petillo,Ilaria De Maggio,Carmelo Piscopo,Massimiliano Chetta,Marina Tarsitano,Luigi Chiriatti, Elvira Sannino, Serena Torre,Marcella D'Antonio,Paola D'Ambrosio, Marco Rambaldi, Maria Cioce, Valentina De Stefano, Maria Rita Parisi, Antonella Telese,Maria Oro,Maria Rivieccio,Francesca Clementina Radio,Cecilia Mancini,Marcello Niceta,Viviana Cordeddu,Alessandro Bruselles,Corrado Mammi, Adele Dattola,Tiziana Fioretti,Gabriella Esposito,Antonio Novelli,Alessandro Tessitore,Alessandra Tessa,Filippo Maria Santorelli,Achille Iolascon,Matteo Della Monica,Marco Tartaglia,Manuela Priolo

CLINICAL GENETICS (2025)

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Variable Ophthalmologic Phenotypes Associated with Biallelic Loss-of-Function Variants in POMGNT1

Lucia Ziccardi,Lucilla Barbano, Mattia D’Andrea,Alessandro Bruselles, Carmen Dell’Aquila,Marcello Niceta,Cecilia Mancini, Alessandro Leone, Mattia Carvetta,Maria Albanese,Emilia Stellacci,Marco Tartaglia,Viviana Cordeddu

International Journal of Molecular Sciencesno. 7 (2025): 3278

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Expanding the Mutational Spectrum of ReNU Syndrome: Insights into 5’ Stem-loop Variants

Alessandro Bruselles,Cecilia Mancini,Luigi Chiriatti, Mattia Carvetta,Maria Chiara Baroni,Camilla Cappelletti,Stefano Giuseppe Caraffi, Massimiliano Celario,Andrea Ciolfi,Viviana Cordeddu, Alessandro De Falco,Marco Ferilli,Livia Garavelli,Chiara Leoni, Camilla Meossi,Marcello Niceta,Roberta Onesimo,Francesca Peluso,Davide Politano,Manuela Priolo,Francesca Clementina Radio,Filippo Santorelli,Sabrina Signorini,Fabio Sirchia,Enza Maria Valente,Giuseppe Zampino,Marco Tartaglia

European journal of human genetics EJHG (2025)

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The Arg99Gln Substitution in HNRNPC is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies

Luigi Chiriatti,Manuela Priolo,Roberta Onesimo, Mattia Carvetta,Chiara Leoni,Alessandro Bruselles,Francesca Clementina Radio,Camilla Cappelletti,Marco Ferilli,Daniela Ricci,Marcello Niceta,Viviana Cordeddu,Andrea Ciolfi,Cecilia Mancini,Giuseppe Zampino,Marco Tartaglia

Genesno. 2 (2025)

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Gianluca Contrò,Maria Chiara Baroni,Stefano Giuseppe Caraffi,Manuela Napoli,Rosangela Artuso, Annarita Giliberti,Sara Bargiacchi,Giorgia Mancano,Giovanna Traficante,Mafalda Mucciolo,Francesca Clementina Radio,Viviana Cordeddu,Cecilia Mancini,Irene Bottillo, Federica Anna Pirro,Maria Teresa Bonati, Cord-Christian Becker,Diana Carli,Alessandro Mussa, Maria Isis Atallah Gonzalez, Inge Lore Ruiz-Arana,Camille Kumps,Isabelle Maystadt,Stephanie Moortgat,Alp Peker,Maria Piccione,Paola Grammatico, Nino Rostomashvili,Jonathan Lévy, Marcello Scala,Valeria Capra,Annalaura Torella, Clare van Eyk,Bertrand Isidor,Benjamin Cogne,Siddharth Srivastava, Aisling Quinlan,Alessandro Vaisfeld,Laura Licchetta,Daniele Frattini,Claudio Graziano,Giulia Severi, Isabelle Bacchi,Luca Soliani,Elliott H Sherr,Emanuela Argilli,Himanshu Goel,Chiara De Luca, Silvia Leonardi,Francesco Brancati,Flavio Faletra,Catia Mio,Silvia Braibanti,Giancarlo Gargano,Carlo Fusco,Antonio Novelli,Marco Tartaglia,Livia Garavelli

Clinical genetics (2025)

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Bi-allelic Variants in SNF8 Cause a Disease Spectrum Ranging from Severe Developmental and Epileptic Encephalopathy to Syndromic Optic Atrophy

AMERICAN JOURNAL OF HUMAN GENETICS（2024）

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Deep Intronic ETFDH Variants Represent a Recurrent Pathogenic Event in Multiple Acyl-CoA Dehydrogenase Deficiency

Stefania Martino,Pietro D'Addabbo,Antonella Turchiano,Francesca Clementina Radio,Alessandro Bruselles,Viviana Cordeddu,Cecilia Mancini,Alessandro Stella,Nicola Laforgia,Donatella Capodiferro,Simonetta Simonetti,Rosanna Bagnulo,Orazio Palumbo,Flaviana Marzano, Ornella Tabaku,Antonella Garganese, Michele Stasi,Marco Tartaglia,Graziano Pesole,Nicoletta Resta

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCESno. 17 (2024)

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Angela Peron,Simone Pizzi,Cecilia Mancini,Camilla Cappelletti,Manuela Priolo,Marco Tartaglia,Marcello Niceta

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 460-460

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SMAD4 Mutations Causing Myhre Syndrome Are under Positive Selection in the Male Germline

AMERICAN JOURNAL OF HUMAN GENETICSno. 9 (2024)

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Etiological Involvement of KCND1 Variants in an X-linked Neurodevelopmental Disorder with Variable Expressivity

Tassja Kalm,Claudia Schob, Hanna Voeller,Thatjana Gardeitchik,Christian Gilissen,Rolph Pfundt,Chiara Kloeckner,Konrad Platzer,Annick Klabunde-Cherwon,Markus Ries,Steffen Syrbe,Francesca Beccaria,Francesca Madia,Marcello Scala,Federico Zara,Floris Hofstede,Marleen E. H. Simon,Richard H. van Jaarsveld,Renske Oegema,Koen L. I. van Gassen,Sjoerd J. B. Holwerda,Tahsin Stefan Barakat,Arjan Bouman,Marjon van Slegtenhorst,Sara Alvarez,Alberto Fernandez-Jaen, Javier Porta,Andrea Accogli,Margherita Maria Mancardi,Pasquale Striano,Michele Iacomino,Jong-Hee Chae,SeSong Jang,Soo Y. Kim,David Chitayat,Saadet Mercimek-Andrews,Christel Depienne,Antje Kampmeier,Alma Kuechler,Harald Surowy,Enrico Silvio Bertini,Francesca Clementina Radio,Cecilia Mancini,Simone Pizzi,Marco Tartaglia, Lucas Gauthier,David Genevieve,Mylene Tharreau,Noy Azoulay, Gal Zaks-Hoffer, Nesia K. Gilad,Naama Orenstein,Genevieve Bernard,Isabelle Thiffault,Jonas Denecke,Theresia Herget,Fanny Kortum,Christian Kubisch,Robert Bahring,Stefan Kindler

The American Journal of Human Geneticsno. 6 (2024): 1206-1221

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