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G

Giovanni Battista Ferrero

university of turin

48H-index
378Paper Count
1.3WCitation Count
Published Papers 99
Publication Date
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The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade
errHuman Genetics
IF3.6
err2026-07-08
err0
errOAAI
errSimona Cardaropoli; Lisa Pavinato; Slavica Trajkova; Diana Carli; Verdiana Pullano; Flavia Palermo; Alessandro Mussa; Elisa Biamino; Vincenzo Antona; Andrea Zonta; Paola Dimartino; Mariia Zadorozhna; Alessandro Bruselles; Roberto Keller; Barbara Pasini; Enrico Grosso; Giorgia Mandrile; Joseph D. Buxbaum; Silvia De Rubeis; Tommaso Pippucci; Marco Tartaglia; Elisa Giorgio; Alfredo Brusco; Giovanni Battista Ferrero
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EIF2AK1 As a Key Genetic Determinant of Luspatercept Resistance in Transfusion-Dependent Thalassemia
errAmerican Journal of Hematology
IF9.9
err2026-07-06
err0
errOAAI
errAnthony Iscaro; Simona Leoni; Filippo Russo; Valentina Brancaleoni; Barbara Eleni Rosato; Roberta Marra; Antonella Nostroso; Natalia Scaramellini; Daniele Lello Panzieri; Iris Villa; Teresa Ceglie; Carmen Maria Gaglioti; Neha Kargutkar; Vito Alessandro Lasorsa; Mario Capasso; Giovanni Battista Ferrero; Immacolata Andolfo; Irene Motta; Roberta Russo
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Targeted long-read sequencing with adaptive sampling enables the integrated genomic and epigenomic profiling of imprinting disorders
errScientific Reports
IF3.9
err2026-07-04
err0
errOAAI
errFederico Rondot; Federica Centofanti; Anna Micaletto; Luca Angheben; Federico Fontana; Niccolò Rossi; Flavia Cerrato; Laura Pignata; Giada Carta; Silvia Di Tommaso; Piera Bontempo; Barbara Pasini; Antonio Novelli; Alessandro Mussa; Andrea Riccio; Giovanni Battista Ferrero; Alfredo Brusco; Massimo Delledonne
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Genetic and Clinical Characterization of TANGO2 Deficiency Disorder: Insights from the Italian Multicentre Cohort
errInternational Journal of Molecular Sciences
IF4.9
err2026-05-15
err0
errOAAI
errEmanuela Claudia Turco; Giulia Pisanò; Laura Caiazza; Silvia Carestiato; Benedetta Piccolo; Simona Fecarotta; Francesca Pochiero; Federica Ricci; Alfredo Brusco; Giovanni Battista Ferrero; Susanna Esposito; Carlo Fusco; Maria Carmela Pera
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The Emerging Role of Liver Stiffness Measurement in Transfusion Dependent Thalassemia
errAmerican Journal of Hematology
IF9.9
err2026-04-21
err0
errOAAI
errBarbara Gianesin; Giovanni Battista Ferrero; Filomena Longo; Susanna Barella; Raffaella Origa; Roberto Lisi; Annamaria Pasanisi; Lorenzo Bacigalupo; Lucia De Franceschi; Gian Luca Forni
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DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals
errEuropean Journal of Human Genetics
IF4.6
err2026-03-25
err0
PREAI
errQuentin Sabbagh; Camille Cenni; Sadegheh Haghshenas; Jean-Luc Alessandri; Mads Bak; Allan Bayat; Mouna Barat-Houari; Alfredo Brusco; Tiffany Busa; Anaïs Calaya; Paige Calvert; Valérie Cormier-Daire; Christine Coubes; Yannis Duffourd; Giovanni B. Ferrero; Anne Guimier; Damien Haye; Tina Duelund Hjortshøj; Laetitia Lambert; Karen Bonde Larsen; Carolyn Lauzon-Young; Gaetan Lesca; Nicolas Chatron; Michael A. Levy; Diego Lopergolo; Henri Margot; Haley McConkey; Pauline Monin; Godelieve Morel; Sophie Naudion; Mathilde Nizon; Sylvie Odent; Lucile Pinson; Linda Pons; Audrey Putoux; Marlène Rio; Massimiliano Rossi; Lucie Rouaux; Flavien Rouxel; Nathalie Ruiz-Pallares; Elodie Sanchez; Stefano Pagano; Filippo M. Santorelli; Clément Sauvestre; Jennifer C. Schymick; Victoria Mok Siu; Marta Spodenkiewicz; Matthew Tedder; Mylène Tharreau; Frédéric Tran Mau-Them; Zeynep Tümer; Irene Valenzuela; Julien Van Gils; Marjolaine Willems; Aron Kirchhoff; Peter Krawitz; Jennifer Kerkhof; Janneke H. M. Schuurs-Hoeijmakers; Bekim Sadikovic; David Geneviève
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Additive effect of multiple genetic variants in SEC23B and PIEZO1 on iron metabolism dyshomeostasis in hereditary anemias
errHemaSphere
IF14.6
err2026-01-23
err0
errOAAI
errAntonella Nostroso; Roberta Marra; Barbara Eleni Rosato; Anthony Iscaro; Federica Maria Esposito; Vanessa D'Onofrio; Manuela Dionisi; Michela Ribersani; Francesca Giordano; Anna Bulla; Giovanni Carlo Del Vecchio; Saverio Scianguetta; Giorgia Mandrile; Teresa Ceglie; Olga Scudiero; Giovanni Battista Ferrero; Silverio Perrotta; Achille Iolascon; Immacolata Andolfo; Roberta Russo
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Adult-Onset β-Thalassemia Major as Acquired Imprinting Disorder
errAmerican Journal of Hematology
IF9.9
err2026-01-16
err0
errOAAI
errEmilia D'Angelo; Giorgia Mandrile; Nicolò Tesio; Francesco Cecere; Teresa Ceglie; Rosa Maria De Maria; Simona Mellone; Mara Giordano; Neha Sanjay Kargutar; Flavia Cerrato; Andrea Riccio; Giovanni Battista Ferrero
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Domain-specific phenotypic profiles in RAF1-related Noonan syndrome
errEuropean Journal of Human Genetics
IF4.6
err2026-01-08
err0
PREAI
errAndrea Gazzin; Marta Calvo; Federico Rondot; Giuseppe Reynolds; Chiara Leoni; Marcello Niceta; Maria Lisa Dentici; Maria Cristina Digilio; Francesca Lepri; Emanuele Monda; Ilaria Carelli; Eva Trevisson; Iris Scala; Giorgia Mancano; Elena Andreucci; Franco Stanzial; Francesco Brancati; Giuseppe Zampino; Luigi Tarani; Roberto Paparella; Diana Carli; Anna Maria Villar; Elena Banaudi; Stefania Massuras; Simona Cardaropoli; Paola Daniele; Elena Airulo; Chiara Riggi; Giulio Calcagni; Giovanni Battista Ferrero; Giuseppe Limongelli; Alessandro De Luca; Marco Tartaglia; Alessandro Mussa
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Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association
errItalian Journal of Pediatrics
IF3.1
err2025-10-24
err0
errOAAI
errSilvia Russo; Donatella Milani; Camilla Meossi; Lorenzo Marcucci; Roberta Pajno; Niccolò Butti; Guido Cocchi; Pierpaola Tannorella; Monica Bertoletti; Diana Carli; Maria Costanza Meazzini; Chiara Tortora; Mario Ferrari; Giuseppe Zampino; Stefania Massuras; Giovanni Battista Ferrero; Paola Quarello; Giulia Rossetti; Rosario Montirosso; Maurizio De Pellegrin; Andrea Riccio; Alessandro Mussa
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Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome
errGenes 2025, Vol. 16, Page 1229
IF0
err2025-10-17
err0
errOAAI
errVerdiana Pullano; Federico Rondot; Ilaria Carelli; Slavica Trajkova; Silvia Carestiato; Simona Cardaropoli; Diana Carli; Elisa Biamino; Fabio Sirchia; Giuseppe Reynolds; Roberto Keller; Elena Shukarova-Angelovska; Giovanni Battista Ferrero; Alfredo Brusco; Alessandro Mussa
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SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder
errNature Communications
IF15.7
err2025-10-10
err0
errOAAI
errMaggie M. K. Wong; Rosalie A. Kampen; Ruth O. Braden; Gökberk Alagöz; Michael S. Hildebrand; Alexander J. M. Dingemans; Jean Corbally; Joery den Hoed; Ezequiel Mendoza; Willemijn J. J. Claassen; Christopher Barnett; Meghan Barnett; Alfredo Brusco; Diana Carli; Bert B. A. de Vries; Frances Elmslie; Giovanni Battista Ferrero; Nadieh A. Jansen; Ingrid M. B. H. van de Laar; Alice Moroni; David Mowat; Lucinda Murray; Francesca Novara; Angela Peron; Ingrid E. Scheffer; Fabio Sirchia; Samantha J. Turner; Aglaia Vignoli; Arianna Vino; Sacha Weber; Wendy K. Chung; Marion Gerard; Vanesa López-González; Elizabeth Palmer; Angela T. Morgan; Bregje W. van Bon; Simon E. Fisher
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DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2025-09-01
err0
PREAI
errvan der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Alders, Marielle; Brusco, Alfredo; Lasa-Aranzasti, Amaia; Brunetti-Pierri, Nicola; Cueto-Gonzalez, Anna M.; DuPont, Barbara R.; Cappuccio, Gerarda; Dubourg, Christele; Everman, David; Gatinois, Vincent; Ganne, Benjamin; Genevieve, David; Ferrero, Giovanni Battista; Kempers, Marlies; Levy, Michael A.; Niceta, Marcello; Novelli, Antonio; Orlando, Valeria; Odent, Sylvie; Patterson, Wesley G.; Polstra, Abeltje M.; Roscioli, Tony; Ruiz-Pallares, Nathalie; Sabbagh, Quentin; Trajkova, Slavica; Tartaglia, Marco; Tedder, Matthew A.; Toutain, Annick; Koehler, Udo; Valenzuela, Irena; van Hagen, Johanna M.; van der Kevie-kersemaekers, Anne-Marie; Henneman, Peter; Mannens, Marcel M. A. M.; Sadikovic, Bekim; van Haelst, Mieke M.
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PIGC-related encephalopathy: Lessons learned from 18 new probands
errEUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
err2025-09-01
err0
PREAI
errBayat, Allan; Borroto, Maria Carla; Salian, Smrithi; Zaki, Maha S.; Benkerroum, Hind; Elbendary, Hasnaa M.; Nguyen, Thi Tuyet Mai; Sadek, Abdelrahim A.; Carli, Diana; Brusco, Alfredo; Ferrero, Giovanni Battista; Tartaglia, Marco; Hay, Eleanor; Krey, Ilona; A. Jamra, Rami; Bartolomaeus, Tobias; Knaus, Alexej; Gleeson, Joseph G.; Houlden, Henry; Dominik, Natalia; Jackson, Adam; Douzgou Houge, Sofia; Banka, Siddharth; Mohammadi-asl, Javad; Hajjari, Mohammadreza; Azizimalamiri, Reza; Nourbakhsh, Pardis; Neissi, Mostafa; Scardamaglia, Annarita; Li, Dianfan; Kinoshita, Taroh; Maroofian, Reza; Murakami, Yoshiko; Campeau, Philippe M.
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Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions
errEuropean Journal of Human Genetics
IF4.6
err2025-08-12
err0
errOAAI
errJulia Volpi; Xiaonan Zhao; Nichole Owen; Tia Evans; Muriel Holder-Espinasse; Nayana Lahiri; Eleanor Sherlock; Gemma Poke; Jeroen Breckpot; Koen Devriendt; Bjorn Cools; Alfredo Brusco; Giovanni Battista Ferrero; Enrico Grosso; Pradeep Vasudevan; Sara Loddo; Antonio Novelli; Maria Cristina Digilio; Aafke Engwerda; Marrit Hitzert; Alison Male; Lucy Bownass; Ruth Newbury-Ecob; Zosia Miedzybrodzka; Ruth Armstrong; Sally Ann Lynch; Gunnar Houge; Shiyi Xiong; Seema R. Lalani; Jill A. Rosenfeld; Pamela N. Luna; Chad A. Shaw; Daryl A. Scott
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COVID-19 in patients affected by red blood cell disorders, results from the European registry ERN-EuroBloodNet
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2025-04-16
err0
errOAAI
errVelasco Puyo, Pablo; Christou, Soteroula; Campisi, Saveria; Rodriguez-Sanchez, Maria A.; Reidel, Sara; Perez-Hoyo, Santiago; Mota, Miriam; Savvidou, Irene; Rekleiti, Anna; Salvo, Alessandra; Voi, Vincenzo; Ferrero, Giovanni Battista; Mandrile, Giorgia; Gaglioti, Carmen Maria; Cela, Elena; Ponce-Salas, Beatriz; Bardon-Cancho, Eduardo J.; Flevari, Pagona; Voskaridou-Dimoula, Ersi; Nur, Erfan; Biemond, Bart J.; Delaporta, Polynexi; Beneitez-Pastor, David; Collado Gimbert, Anna; Spasiano, Anna; Besse-Hammer, Tatiana; Lafiatis, Ioannis G.; Dedeken, Laurence; Raso, Simona; Ruiz-Llobet, Anna; Bagnato, Sabrina; Labarque, Veerle; Glenthoj, Andreas; Ruffo, Giovan Battista; Guerzoni, Maria Elena; Hafraoui, Kaoutar; Pistoia, Laura; Rosso, Rosamaria; Tagliaferri, Laura; Gonzalez-Urdiales, Paula; Benghiat, Fleur Samantha; de Montalembert, Mariane; Teles, Maria Jose; Vanderfaeillie, Anna; Bertoni, Elisa; Cuzzubbo, Daniela; Ferreira, Teresa; Saunders, Christopher J.; Stiakaki, Eftichia; van de Velde, Ann L.; Diamantidis, Michael D.; Kerkhoffs, Jean-Louis H.; Oliveira, Marisa I.; Quota, Alessandra; Russo, Roberta; Van Damme, An; Argueello Marina, Maria; Lorite Reggiori, Mikael; Rijneveld, Anita W.; Rodriguez Gallego, Alexis; Colombatti, Raffaella; Iolascon, Achille; Taher, Ali; Gulbis, Beatrice; Roy, Noemi B. A.; Manu-Pereira, Maria del Mar
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Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth
errJOURNAL OF MEDICAL GENETICS
IF3.7
err2025-01-27
err0
PREAI
errGazzin, Andrea; Reynolds, Giuseppe; Massuras, Stefania; Luca, Maria; Coppo, Paola; Carli, Diana; Piglionica, Marilidia; Martino, Stefania; Bagnulo, Rosanna; Ferrero, Giovanni Battista; Resta, Nicoletta; Mussa, Alessandro
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Hydroxyurea Pharmacokinetic Evaluation in Patients with Sickle Cell Disease
errPHARMACEUTICALS
IF4.8
err2024-10-17
err0
errOAAI
errDi Grazia, Daniela; Mirabella, Cristina; Chiara, Francesco; Caudana, Maura; Agar, Francesco Maximillian Anthony Shelton; Zanatta, Marina; Allegra, Sarah; Bertello, Jenni; Voi, Vincenzo; Ferrero, Giovanni Battista; Abbadessa, Giuliana; De Francia, Silvia
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Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder
errANNALS OF NEUROLOGY
IF7.7
err2024-09-20
err2
PREAI
errBlackburn, Patrick R.; Ebstein, Frederic; Hsieh, Tzung-Chien; Motta, Marialetizia; Radio, Francesca Clementina; Herkert, Johanna C.; Rinne, Tuula; Thiffault, Isabelle; Rapp, Michele; Alders, Mariel; Maas, Saskia; Gerard, Benedicte; Smol, Thomas; Vincent-Delorme, Catherine; Cogne, Benjamin; Isidor, Bertrand; Vincent, Marie; Bachmann-Gagescu, Ruxandra; Rauch, Anita; Joset, Pascal; Ferrero, Giovanni Battista; Ciolfi, Andrea; Husson, Thomas; Guerrot, Anne-Marie; Bacino, Carlos; Macmurdo, Colleen; Thompson, Stephanie S.; Rosenfeld, Jill A.; Faivre, Laurence; Mau-Them, Frederic Tran; Deb, Wallid; Vignard, Virginie; Agrawal, Pankaj B.; Madden, Jill A.; Goldenberg, Alice; Lecoquierre, Francois; Zech, Michael; Prokisch, Holger; Necpal, Jan; Jech, Robert; Winkelmann, Juliane; Koprusakova, Monika Turcanova; Konstantopoulou, Vassiliki; Younce, John R.; Shinawi, Marwan; Mighton, Chloe; Fung, Charlotte; Morel, Chantal F.; Lerner-Ellis, Jordan; Ditroia, Stephanie; Barth, Magalie; Bonneau, Dominique; Krapels, Ingrid; Stegmann, Alexander P. A.; van Der Schoot, Vyne; Brunet, Theresa; Bussmann, Cornelia; Mignot, Cyril; Zampino, Giuseppe; Wortmann, Saskia B.; Mayr, Johannes A.; Feichtinger, Rene G.; Courtin, Thomas; Ravelli, Claudia; Keren, Boris; Ziegler, Alban; Hasadsri, Linda; Pichurin, Pavel N.; Klee, Eric W.; Grand, Katheryn; Sanchez-Lara, Pedro A.; Krueger, Elke; Bezieau, Stephane; Klinkhammer, Hannah; Krawitz, Peter Michael; Eichler, Evan E.; Tartaglia, Marco; Kuery, Sebastien; Wang, Tianyun
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SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline
errAMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
err2024-09-01
err3
errOAAI
errWood, Katherine A.; Tong, R. Spencer; Motta, Marialetizia; Cordeddu, Viviana; Scimone, Eleanor R.; Bush, Stephen J.; Maxwell, Dale W.; Giannoulatou, Eleni; Caputo, Viviana; Traversa, Alice; Mancini, Cecilia; Ferrero, Giovanni B.; Benedicenti, Francesco; Grammatico, Paola; Melis, Daniela; Steindl, Katharina; Brunetti-Pierri, Nicola; Trevisson, Eva; Wilkie, Andrew O. M.; Lin, Angela E.; Cormier-Daire, Valerie; Twigg, Stephen R. F.; Tartaglia, Marco; Goriely, Anne
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Research Directions

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Co-authors
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