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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.
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
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  Data: Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.
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  Data: <searchLink fieldCode="AU" term="%22D'Abrusco+F%22">D'Abrusco F</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Serpieri+V%22">Serpieri V</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Taccagni+CM%22">Taccagni CM</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Garau+J%22">Garau J</searchLink>; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Cattaneo+L%22">Cattaneo L</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Boggioni+M%22">Boggioni M</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Gana+S%22">Gana S</searchLink>; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Battini+R%22">Battini R</searchLink>; IRCCS Stella Maris Foundation, Pisa, Italy.; Department of Clinical ad Experimental Medicine, University of Pisa, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Bertini+E%22">Bertini E</searchLink>; Research Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Pediatric Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Zanni+G%22">Zanni G</searchLink>; Research Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Pediatric Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Boltshauser+E%22">Boltshauser E</searchLink>; University Children's Hospital, Zürich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Borgatti+R%22">Borgatti R</searchLink>; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Romaniello+R%22">Romaniello R</searchLink>; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Signorini+S%22">Signorini S</searchLink>; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Leuzzi+V%22">Leuzzi V</searchLink>; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Caputi+C%22">Caputi C</searchLink>; Developmental Age Rehabilitation Service, Trasimeno District, Magione (PG), Italy.<br /><searchLink fieldCode="AU" term="%22Manti+F%22">Manti F</searchLink>; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Sapienza University of Rome, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22D'Arrigo+S%22">D'Arrigo S</searchLink>; Department of Developmental Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22De+Laurentiis+A%22">De Laurentiis A</searchLink>; Department of Developmental Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Graziano+C%22">Graziano C</searchLink>; Medical Genetics Unit, MeLabeT Department, AUSL Romagna, Cesena, Italy.<br /><searchLink fieldCode="AU" term="%22Lemke+JR%22">Lemke JR</searchLink>; Institute of Human Genetics, University of Leipzig, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Morelli+F%22">Morelli F</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Petković+Ramadža+D%22">Petković Ramadža D</searchLink>; Department of Pediatrics, University Hospital Centre Zagreb and University of Zagreb School of Medicine, Zagreb, Croatia.<br /><searchLink fieldCode="AU" term="%22Sirchia+F%22">Sirchia F</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Giorgio+E%22">Giorgio E</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Valente+EM%22">Valente EM</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2025 Jan; Vol. 33 (1), pp. 72-79. <i>Date of Electronic Publication: </i>2024 Oct 11.
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