换一批Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.
第一作者：
Annalaura,Torella
第一单位：
Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.;Department of Precision Medicine, University of Campania "Luigi Vanvitelli," Naples, Italy.;Medical Genetics UOSD, Azienda Ospedaliera Universitaria Luigi Vanvitelli, Naples, Italy.
作者：
Annalaura,Torella [1]
;
Manuela,Morleo [2]
;
Carmine,Spampanato [3]
;
Raffaele,Castello [4]
;
Mariateresa,Zanobio [5]
;
Giulio,Piluso [6]
;
Pasquale,Di Letto [5]
;
Maria Elena,Onore [5]
;
Sarah Iffat,Rahman [5]
;
Francesco,Musacchia [4]
;
Michele,Pinelli [7]
;
Giuseppina,Vitiello [8]
;
Giulia,De Riso [7]
;
Angelo,Selicorni [9]
;
Milena,Mariani [9]
;
Cecilia,Daolio [10]
;
Valeria,Capra [11]
;
Marcello,Scala [12]
;
Francesca,Nardecchia [13]
;
Serena,Galosi [13]
;
Mario,Mastrangelo [14]
;
Filippo,Manti [13]
;
Donatella,Milani [15]
;
Corrado,Romano [16]
;
Donatella,Greco [17]
;
Claudia,Ciaccio [18]
;
Stefano,D'Arrigo [18]
;
Arianna,De Laurentiis [18]
;
Antonietta,Coppola [19]
;
Marcella,Zollino [20]
;
Domizia,Pasquetti [21]
;
Federica Francesca,L'Erario [21]
;
Albina,Tummolo [22]
;
Claudia,Santoro [23]
;
Livia,Garavelli [24]
;
Carla,Marini [25]
;
Stefania,Bigoni [26]
;
Alfonsina,Tirozzi [27]
;
Viviana,Cetrangolo [2]
;
Giancarlo,Parenti [28]
;
Diego,Di Bernardo [29]
;
Angela,Peron [30]
;
Silvia,Maitz [31]
;
Andrea,Accogli [32]
;
Gerarda,Cappuccio [33]
;
Sandro,Banfi [1]
;
Giorgio,Casari [34]
;
Andrea,Ballabio [35]
;
Nicola,Brunetti-Pierri [36]
;
Vincenzo,Nigro [1]
;
Telethon Undiagnosed Disease Study group
作者单位：
Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.;Department of Precision Medicine, University of Campania "Luigi Vanvitelli," Naples, Italy.;Medical Genetics UOSD, Azienda Ospedaliera Universitaria Luigi Vanvitelli, Naples, Italy.
[1]
Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.;Department of Precision Medicine, University of Campania "Luigi Vanvitelli," Naples, Italy.
[2]
Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.;Medical Genetics UOSD, Azienda Ospedaliera Universitaria Luigi Vanvitelli, Naples, Italy.
[3]
Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
[4]
Department of Precision Medicine, University of Campania "Luigi Vanvitelli," Naples, Italy.
[5]
Department of Precision Medicine, University of Campania "Luigi Vanvitelli," Naples, Italy.;Medical Genetics UOSD, Azienda Ospedaliera Universitaria Luigi Vanvitelli, Naples, Italy.
[6]
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.;Unit of Medical Genetics, Department of Laboratory and Transfusion Medicine, University Hospital Federico II, Naples, Italy.
[7]
Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.
[8]
Department of Pediatrics, ASST Lariana Sant'Anna Hospital, Como, Italy.
[9]
Pediatrics, IRCCS San Gerardo dei Tintori Foundation, Monza, Italy.
[10]
Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
[11]
Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.;Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
[12]
Unit of Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.
[13]
Department of Women/Health and Urological Science, Sapienza, Università di Roma.
[14]
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
[15]
Research Unit of Rare Diseases and Neurodevelopmental Disorders Oasi Research Institute-IRCCS, Troina, Italy.;University of Catania, Department of Biomedical and Biotechnological Sciences, Section of Clinical Biochemistry and Medical Genetics, Catania, Italy.
[16]
Research Unit of Rare Diseases and Neurodevelopmental Disorders Oasi Research Institute-IRCCS, Troina, Italy.
[17]
Department of Pediatric Neurology, Istituto Neurologico Carlo Besta, Milan, Italy.
[18]
Department of Neuroscience, Reproductive and Odontostomatological Sciences, Epilepsy Center, University of Naples Federico II, Naples, Italy.
[19]
Unit of Medical Genetics, Policlinico Universitario "A. Gemelli Foundation IRCCS," Rome, Italy.;Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.
[20]
Unit of Medical Genetics, Policlinico Universitario "A. Gemelli Foundation IRCCS," Rome, Italy.
[21]
Department of Metabolic Diseases, Clinical Genetics and Diabetology, Giovanni XXIII Children Hospital, Azienda Ospedaliero-Universitaria Consorziale, Bari, Italy.
[22]
Department of Women, Child, General and Specialized Surgery, University of Campania "Luigi Vanvitelli" Naples, Italy.
[23]
Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
[24]
Child Neurology and Psychiatric Unit, Salesi Children Hospital, Ancona, Italy.
[25]
Medical Genetics Unit, Department of Mother and Child, University Hospital of Ferrara, Ferrara, Italy.
[26]
Clinical Genetic Unit, Santobono-Pausilipon Children's Hospital, AORN, Naples, Italy.
[27]
Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.;Department of Translational Medical Sciences, Pediatrics Section, Federico II University of Naples, Naples, Italy.
[28]
Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.;Department of Chemical, Materials and Industrial Engineering, University of Naples Federico II, Naples, Italy.
[29]
Division of Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.;Department of Experimental and Clinical Biomedical Sciences "Mario Serio" Università degli Studi di Firenze, Florence, Italy.
[30]
Medical Genetics Service, Oncology Department of Southern Switzerland, Ente Ospedaliero Cantonale, Lugano, Switzerland.
[31]
Division of Medical Genetics, Department of Medicine, and Department of Human Genetics, McGill University Health Center, Montreal, QC, Canada.
[32]
Department of Translational Medical Sciences, Pediatrics Section, Federico II University of Naples, Naples, Italy.;Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.
[33]
Vita-Salute San Raffaele University, Milan, Italy.;Genomic Unit for the Diagnosis of Human Pathologies, IRCCS San Raffaele Scientific Institute, Milan, Italy.
[34]
Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.;Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.;Medical Genetics Unit, Department of Medical and Translational Science, Federico II University, Via Pansini 5, Naples, Italy.;Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
[35]
Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.;Department of Translational Medical Sciences, Pediatrics Section, Federico II University of Naples, Naples, Italy.;Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy.
[36]
DOI
10.1016/j.gimo.2026.104394
PMID
42016445
发布时间
2026-04-22
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Genetics in medicine open
Genetics in medicine open
2026年4卷
104394页
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