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F

Federico Zara

irccs istituto giannina gaslini

76H-index
547Paper Count
2.5WCitation Count
Published Papers 223
Publication Date
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Five-year experience of a combined newborn screening for spinal muscular atrophy and severe combined immunodeficiency in Liguria, Italy
errEuropean Journal of Human Genetics
IF4.6
err2026-07-18
err0
errOAAI
errConcetta Aloi; Monica Traverso; Alessandro Salina; Marco Di Duca; Michela Cassanello; Stefania Bertoni; Stefano Volpi; Serena Palmeri; Marina Pedemonte; Noemi Brolatti; Barbara Tappino; Federica Lanza; Maura Faraci; Marco Gattorno; Federico Zara; Claudio Bruno; Mohamad Maghnie
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Heterozygous CECR2 Variants Support a Distinct Neurodevelopmental Syndrome with Features Overlapping Cat Eye Syndrome
errHuman Genetics and Genomics Advances
IF3.6
err2026-04-09
err0
errOAAI
errAnushree Acharya; Irma Järvelä; Andrea Hernandez; Yasmin Rajendran; Thashi Bharadwaj; Dana H. Goodloe; Susan M. Hiatt; Jennifer Morrison; Patricia G. Wheeler; Jesse M. Hunter; Rachel Supinger; Scott E. Hickey; Andrea K. Petersen; Kari Magnussen; Marcello Scala; Pasquale Striano; Federico Zara; Juha Leppälä; Suzanne M. Leal; Isabelle Schrauwen
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Comprehensive Assessment of the KDM2B-Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome
errClinical Genetics
IF2.3
err2026-04-09
err0
errOAAI
errAmber S. E. van Oirsouw; Tzung-Chien Hsieh; Martijn Koetsier; Abdulrazak Alali; Fatimah Albuainain; Elena Bacchelli; Tahsin Stefan Barakat; Yline Capri; Sandra Chantot-Bastaraud; Valeria Capra; Deanna Alexis Carere; Emma Clement; Nour Elkhateeb; Madeleine Franchi; Jing-Mei Li; Nicole Matthews; Vanda McNiven; Sarju G. Mehta; Masayuki Nakamura; Chanika Phornphutkul; Nicole Revencu; Marcello Scala; Natalie Shallow; Jennifer Stefanich; Marta Viggiano; Paola Visconti; Susan Walker; Federico Zara; Mariëlle Alders; Bobby P. C. Koeleman; Renske Oegema
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Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
errEuropean Journal of Human Genetics
IF4.6
err2026-04-02
err0
PREAI
errCamille Engel; Michaela Rendek; Jessica Assoumani; Emanuela Argilli; Francesca Ariani; Anne-Laude Avice-Denizet; Emilia K. Bijlsma; Pierre Blanc; Lucia Pia Bruno; Bert Callewaert; Valeria Capra; Michele Carullo; Bertrand Chesneau; Sandra Coppens; Cynthia Curry; Breanne Dale; Eric Dahlen; Andrée Delahaye-Duriez; Anne-Sophie Denommé-Pichon; Bénédicte Demeer; Lenka Dvořáková; Jan Fischer; David Geneviève; Thea Giacomini; Mette M. Handrup; Delphine Heron; Irina Hüning; Michelle Iacomino; Bertrand Isidor; Boris Keren; Stanislav Kmoch; David A. Koolen; Andrea Kübler; Jana Laštůvková; Carolyn Le; Jonathan Levy; Caterina Lo Rizzo; Silvia Maitz; Sandrine Marlin; Cyril Mignot; Ghayda Mirzaa; Inga Nagel; Sebastian Neuens; Lenka Nosková; Emily Pao; Anna Pecková; Julie Plaisancie; Joseph Porrmann; Flavia Privitera; André Reis; Alessandra Renieri; Marlène Rio; Alyssa Rippert; Lukáš Ryba; Marcello Scala; Jolanda H. Schieving; Elliott H. Sherr; Andrew Shuen; Richard Sidlow; Thomas Smol; Julie Soblet; Pasquale Striano; Mohnish Suri; Hannes Syryn; Frédéric Tran Mau-Them; Andre M. Travessa; Julien Van Gils; Georgia Vasileiou; Jolijn J. A. Verseput; Catheline Vilain; Catherine Vincent-Delorme; Emílie Vyhnálková; Emma L. Wakeling; Pia Zacher; Federico Zara; Paul Kuentz; Juliette Piard
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Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders
errInternational Journal of Molecular Sciences
IF4.9
err2026-01-23
err0
errOAAI
errFrancesco Calì; Simone Treccarichi; Mirella Vinci; Emanuela Avola; Antonino Musumeci; Alda Ragalmuto; Carola Costanza; Donatella Greco; Desiree Brancato; Concetta Federico; Santina Città; Francesco Domenico Di Blasi; Salvatore Saccone; Paolo Scudieri; Federico Zara; Maurizio Elia
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A novel frameshift CUX2 variant in a patient with epilepsy and global developmental delay: Phenotypic and genotypic expansion
errEUROPEAN JOURNAL OF MEDICAL GENETICS
IF1.7
err2025-12-01
err0
errOAAI
errRomano, Ferruccio; Nosrati, Mohammad Sadegh Shams; Madia, Francesca; Ognibene, Marzia; Traverso, Monica; Breda, Marta; Dostmohammadi, Alireza; Scala, Marcello; Zara, Federico; Mancardi, Maria Margherita; Capra, Valeria
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Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach
errEuropean Journal of Paediatric Neurology
IF2.3
err2025-12-01
err0
PREAI
errMasnada, Silvia; De Giorgis, Valentina; Carugo, Umberto; Bahi-Buisson, Nadia; Cavallin, Mara; Corbett, Mark; Formica, Manuela; Gecz, Jozef; Petros, Natalia; Perucca, Emilio; Pichiecchio, Anna; Poli, Paolo Fusar; Sherr, Elliott H.; Veyver, Ignatia B. Van Den; Zara, Federico; Geroldinger, Martin; Veggiotti, Pierangelo; Arzimanoglou, Alexis
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SLC35A2-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights
errInternational Journal of Molecular Sciences 2025, Vol. 26, Page 11560
IF4.9
err2025-11-29
err0
errOAAI
errBeatrice Risso; Antonella Riva; Greta Volpedo; Valerio Conti; Clara Tuccari di San Carlo; Federico Zara; Pasquale Striano; Antonio Falace
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Modeling Mowat-Wilson syndrome with patient iPSCs reveals transcriptional and phenotypic defects in neural progenitors
errNeurobiology of Disease
IF5.6
err2025-11-29
err0
errOAAI
errIlaria Musante; Giulia Gorrieri; Serena Tamburro; Giulia Ferrera; Simona Baldassari; Anna Fetta; Stefano Giuseppe Caraffi; Aglaia Vignoli; Giovanni Fiorito; Livia Garavelli; Maria Paola Canevini; Duccio Maria Cordelli; Federico Zara; Emilia Ricci; Paolo Scudieri
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errSave
Lennox–Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy-insights from the Genoa International Workshop
errEpilepsia
IF6.6
err2025-10-29
err0
errOAAI
errAntonella Riva; Gianluca D'Onofrio; Elisabetta Amadori; Alexis Arzimanoglou; Stéphane Auvin; Irene Bagnasco; Paola Barabino; Valentina Biagioli; Isabella Brambilla; Giuliana Cangemi; Antonietta Coppola; Antonella De Lillo; Carlo Di Bonaventura; Giancarlo Di Gennaro; Edoardo Ferlazzo; Antonio Gil-Nagel; Giuseppe Gobbi; Simona Lattanzi; Gerhard Kluger; Günter Krämer; Maria Margherita Mancardi; Carlo Minetti; Lino Nobili; Elisa Paravati; Milka Pringsheim; Erika Rebessi; Antonino Romeo; Angelo Russo; Emilio Russo; Katia Santoro; Susanne Schubert-Bast; Laura Siri; Jo Sourbron; Maria Stella Vari; Alberto Verrotti; Flavio Villani; Maurizio Viri; Celina von Stülpnagel; Nelia Zamponi; Federico Zara; Pasquale Striano
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Beyond Trikafta: new models to assess tissue dependent rescue of N1303K-CFTR
errFrontiers in Pharmacology
IF4.8
err2025-10-29
err0
errOAAI
errIwona Pranke†; Valeria Capurro†; Benoit Chevalier†; Emanuela Pesce†; Valeria Tomati; Cristina Pastorino; Mairead Kelly-Aubert; Aurelie Hatton; Elise Dreano; Mariateresa Lena; Renata Bocciardi; Federico Zara; Stefano Pantano; Vito Terlizzi; Cristina Lucanto; Stefano Costa; Laura Claut; Valeria Daccò; Piercarlo Poli; Massimo Maschio; Benedetta Fabrizzi; Nicole Caporelli; Marco Cipolli; Sonia Volpi; Frederique Chedevergne; Laure Cosson; Julie Macey; Sophie Ramel; Laurence Weiss; Dominique Grenet; Laurence Le Clainche-Viala; Benoit Douvry; Bruno Ravoninjatovo; Camille Audousset; Aurélie Tatopoulos; Bénédicte Richaud-Thiriez; Melissa Baravalle; Guillaume Thouvenin; Guillaume Labbé; Marie Mittaine; Philippe Reix; Isabelle Durieu; Julie Mankikian; Stéphanie Bui; Thao Nguyen-Khoa; Karim Khoukh; Clémence Martin; Jennifer Da Silva; Paola De Carli; Carlo Castellani; Federico Cresta; Luis Galietta; Anne Guillemaut; Emmanuelle Girodon; Natacha Remus; Mathis Bulcaen; Marjolein Ensinck; Miroslaw Zajac; Marianne Carlon; Jean LeBihan; Pierre-Régis Burgel; Isabelle Sermet-Gaudelus‡; Alexandre Hinzpeter‡; Nicoletta Pedemonte‡
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Pathophysiological Mechanisms Fostering Developmental and Epileptic Encephalopathies (DEE): a Complex Interplay between Genetics, Inflammation and Neurodegeneration
errCurrent Neurology and Neuroscience Reports
IF5.2
err2025-09-27
err0
PREAI
errAntonella Riva; Greta Volpedo; Federico Zara; Anna Fassio; Pasquale Striano; Antonio Falace
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errSave
Alternative splicing and residual function potentially expand the therapeutic landscape of the CFTRdele2ins182 variant
errPLOS ONE
IF2.6
err2025-09-16
err0
errOAAI
errPastorino, Cristina; Menta, Ludovica; Pesce, Emanuela; Lena, Mariateresa; Tomati, Valeria; Capurro, Valeria; Di Duca, Marco; Terlizzi, Vito; Gramegna, Andrea; Blasi, Francesco; Castellani, Carlo; Cappato, Serena; Zara, Federico; Pedemonte, Nicoletta; Bocciardi, Renata
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errSave
In silico, in vitro and ex vivo characterization of cystic fibrosis transmembrane conductance regulator pathogenic variants localized in the fourth intracellular loop and their rescue by modulators
errBritish Journal of Pharmacology
IF7.7
err2025-08-20
err0
errOAAI
errEmanuela Pesce; Valeria Tomati; Valeria Capurro; Mariateresa Lena; Cristina Pastorino; Miro Astore; Serdar Kuyucak; Benoit Chevalier; Elvira Sondo; Federico Cresta; Alice Dighero; Vito Terlizzi; Cristina Fevola; Stefano Costa; Maria Cristina Lucanto; Valeria Daccò; Laura Claut; Francesca Ficili; Benedetta Fabrizzi; Renata Bocciardi; Federico Zara; Carlo Castellani; Luis J. V. Galietta; Shafagh A. Waters; Alexandre Hinzpeter; Nicoletta Pedemonte
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errSave
Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations
errClinical Genetics
IF2.3
err2025-08-13
err0
errOAAI
errAnees Muhammad; Mohammad Sadegh Shams Nosrati; Alireza Dostmohammadi; Reihaneh Khorasanian; Mariasavina Severino; Morteza Doustmohammadi; Francesca Madia; Siddharth Srivastava; Aisling Quinlan; Dario Paladini; Federico Zara; Marcello Scala
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errSave
SUDEP risk is influenced by longevity genomics: a polygenic risk score study
erreBioMedicine
IF10.8
err2025-07-28
err0
errOAAI
errHelena Martins; James D. Mills; Susanna Pagni; Medine I. Gulcebi; Angeliki Vakrinou; Patrick B. Moloney; Lisa M. Clayton; Ravishankara Bellampalli; Hannah Stamberger; Sarah Weckhuysen; Pasquale Striano; Federico Zara; Richard D. Bagnall; Rebekah V. Harris; Kate M. Lawrence; Lynette G. Sadleir; Douglas E. Crompton; Daniel Friedman; Juliana Laze; Ling Li; Samuel F. Berkovic; Christopher Semsarian; Ingrid E. Scheffer; Orrin Devinsky; Karoline Kuchenbaecker; Simona Balestrini; Sanjay M. Sisodiya
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errSave
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
errEuropean Journal of Human Genetics
IF4.6
err2025-06-25
err0
PREAI
errCamille Engel; Michaela Rendek; Jessica Assoumani; Emanuela Argilli; Francesca Ariani; Anne-Laude Avice-Denizet; Emilia K. Bijlsmaa; Pierre Blanc; Lucia Pia Bruno; Bert Callewaert; Valeria Capra; Michele Carullo; Bertrand Chesneau; Sandra Coppens; Cynthia Curry; Breanne Dale; Eric Dahlen; Andrée Delahaye-Duriez; Anne-Sophie Denommé-Pichon; Bénédicte Demeer; Lenka Dvořáková; Jan Fischer; David Geneviève; Thea Giacomini; Mette M. Handrup; Delphine Heron; Irina Hüning; Michelle Iacomino; Bertrand Isidor; Boris Keren; Stanislav Kmoch; David A. Koolen; Andrea Kübler; Jana Laštůvková; Carolyn Le; Jonathan Levy; Caterina Lo Rizzo; Silvia Maitz; Sandrine Marlin; Cyril Mignot; Ghayda Mirzaa; Inga Nagel; Sebastian Neuens; Lenka Nosková; Emily Pao; Anna Pecková; Julie Plaisancie; Joseph Porrmann; Flavia Privitera; André Reis; Alessandra Renieri; Marlène Rio; Alyssa Rippert; Lukáš Ryba; Marcello Scala; Jolanda H. Schieving; Elliott H. Sherr; Andrew Shuen; Richard Sidlow; Thomas Smol; Julie Soblet; Pasquale Striano; Mohnish Suri; Hannes Syryn; Frédéric Tran Mau-Them; Andre M. Travessa; Julien Van Gils; Georgia Vasileiou; Jolijn J. A. Verseput; Catheline Vilain; Catherine Vincent-Delorme; Emílie Vyhnálková; Emma L. Wakeling; Pia Zacher; Federico Zara; Paul Kuentz; Juliette Piard
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errSave
Gut-immune-brain interactions during neurodevelopment: from a brain-centric to a multisystem perspective
errBMC MEDICINE
IF8.3
err2025-05-06
err0
errOAAI
errVolpedo, Greta; Riva, Antonella; Nobili, Lino; Zara, Federico; Ravizza, Teresa; Striano, Pasquale
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errSave
Arteriovenous cerebral high-flow shunts: genetic analysis of patients from a pediatric tertiary care center
errFRONTIERS IN GENETICS
IF2.8
err2025-03-28
err0
errOAAI
errRomano, Ferruccio; De Marco, Patrizia; Amico, Giulia; Mallamaci, Marisa; Pavanello, Marco; Piatelli, Gianluca; Scala, Marcello; Zara, Federico; Faravelli, Francesca; Severino, Mariasavina; Tortora, Domenico; Pasetti, Francesco; Castellan, Lucio; Buratti, Silvia; Capra, Valeria
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Esc peptides and derivatives potentiate the activity of CFTR with gating defects and display antipseudomonal activity in cystic fibrosis-like lung disease
errCELLULAR AND MOLECULAR LIFE SCIENCES
IF6.2
err2025-03-18
err0
errOAAI
errFerrera, Loretta; Cappiello, Floriana; Venturini, Arianna; Lu, Hexin; Casciaro, Bruno; Cappella, Giacomo; Bontempi, Giulio; Corrente, Alessandra; Strippoli, Raffaele; Zara, Federico; Di, Y. Peter; Galietta, Luis J. V.; Mori, Mattia; Mangoni, Maria Luisa
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Research Directions

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Co-authors
Cooperation Journals
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