Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.
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| Title: | Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome. |
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| Authors: | D'Abrusco F; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Serpieri V; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Taccagni CM; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Garau J; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy., Cattaneo L; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Boggioni M; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Gana S; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy., Battini R; IRCCS Stella Maris Foundation, Pisa, Italy.; Department of Clinical ad Experimental Medicine, University of Pisa, Pisa, Italy., Bertini E; Research Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Pediatric Hospital, Rome, Italy., Zanni G; Research Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Pediatric Hospital, Rome, Italy., Boltshauser E; University Children's Hospital, Zürich, Switzerland., Borgatti R; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Romaniello R; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Signorini S; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Leuzzi V; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy., Caputi C; Developmental Age Rehabilitation Service, Trasimeno District, Magione (PG), Italy., Manti F; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy., D'Arrigo S; Department of Developmental Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., De Laurentiis A; Department of Developmental Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Graziano C; Medical Genetics Unit, MeLabeT Department, AUSL Romagna, Cesena, Italy., Lemke JR; Institute of Human Genetics, University of Leipzig, Leipzig, Germany., Morelli F; Department of Psychiatry, Autism Spectrum Disorders and Related Conditions Service, Lausanne University Hospital (CHUV), Lausanne, Switzerland.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Petković Ramadža D; Department of Pediatrics, University Hospital Centre Zagreb and University of Zagreb School of Medicine, Zagreb, Croatia., Sirchia F; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy., Giorgio E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy., Valente EM; Department of Molecular Medicine, University of Pavia, Pavia, Italy. enzamaria.valente@unipv.it.; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy. enzamaria.valente@unipv.it. |
| Source: | European journal of human genetics : EJHG [Eur J Hum Genet] 2025 Jan; Vol. 33 (1), pp. 72-79. Date of Electronic Publication: 2024 Oct 11. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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