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Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.

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Title: Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Authors: Serpieri V; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy., Mortarini G; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Loucks H; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Biagini T; Bioinformatics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Foggia, Italy., Micalizzi A; Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Palmieri I; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy., Dempsey JC; Department of Pediatrics, University of Washington, Seattle, Washington, USA., D'Abrusco F; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Mazzotta C; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Battini R; Department of Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy., Bertini ES; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy., Boltshauser E; Departement of Pediatric Neurology, University Children's Hospital Zürich, Zurich, Switzerland., Borgatti R; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Brockmann K; Interdisciplinary Pediatric Centre for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Centre, Georg August University, Göttingen, Germany., D'Arrigo S; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico 'C Besta', Milan, Italy., Nardocci N; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico 'C Besta', Milan, Italy., Fischetto R; Clinical Genetics Unit, Department of Pediatric Medicine, Giovanni XXIII Children's Hospital, Bari, Italy., Agolini E; Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Novelli A; Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy., Romano A; Section of Pediatrics, Department of Medical Translational Sciences, University of Naples Federico II, Naples, Italy., Romaniello R; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Stanzial F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bozen, Bozen, Italy., Signorini S; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Strisciuglio P; Section of Pediatrics, Department of Medical Translational Sciences, University of Naples Federico II, Naples, Italy., Gana S; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy., Mazza T; Bioinformatics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Foggia, Italy., Doherty D; Department of Pediatrics, University of Washington, Seattle, Washington, USA., Valente EM; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy enzamaria.valente@unipv.it.; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Source: Journal of medical genetics [J Med Genet] 2023 Sep; Vol. 60 (9), pp. 885-893. Date of Electronic Publication: 2023 Feb 14.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Serpieri+V%22">Serpieri V</searchLink>; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Mortarini+G%22">Mortarini G</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Loucks+H%22">Loucks H</searchLink>; Department of Pediatrics, University of Washington, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Biagini+T%22">Biagini T</searchLink>; Bioinformatics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Foggia, Italy.<br /><searchLink fieldCode="AU" term="%22Micalizzi+A%22">Micalizzi A</searchLink>; Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Palmieri+I%22">Palmieri I</searchLink>; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Dempsey+JC%22">Dempsey JC</searchLink>; Department of Pediatrics, University of Washington, Seattle, Washington, USA.<br /><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="%22Mazzotta+C%22">Mazzotta C</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Battini+R%22">Battini R</searchLink>; Department of Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Bertini+ES%22">Bertini ES</searchLink>; Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Boltshauser+E%22">Boltshauser E</searchLink>; Departement of Pediatric Neurology, University Children's Hospital Zürich, Zurich, 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="%22Brockmann+K%22">Brockmann K</searchLink>; Interdisciplinary Pediatric Centre for Children with Developmental Disabilities and Severe Chronic Disorders, University Medical Centre, Georg August University, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22D'Arrigo+S%22">D'Arrigo S</searchLink>; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico 'C Besta', Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Nardocci+N%22">Nardocci N</searchLink>; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico 'C Besta', Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Fischetto+R%22">Fischetto R</searchLink>; Clinical Genetics Unit, Department of Pediatric Medicine, Giovanni XXIII Children's Hospital, Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Agolini+E%22">Agolini E</searchLink>; Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Novelli+A%22">Novelli A</searchLink>; Laboratory of Medical Genetics, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Romano+A%22">Romano A</searchLink>; Section of Pediatrics, Department of Medical Translational Sciences, University of Naples Federico II, Naples, 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="%22Stanzial+F%22">Stanzial F</searchLink>; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bozen, Bozen, 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="%22Strisciuglio+P%22">Strisciuglio P</searchLink>; Section of Pediatrics, Department of Medical Translational Sciences, University of Naples Federico II, Naples, 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="%22Mazza+T%22">Mazza T</searchLink>; Bioinformatics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, S. Giovanni Rotondo, Foggia, Italy.<br /><searchLink fieldCode="AU" term="%22Doherty+D%22">Doherty D</searchLink>; Department of Pediatrics, University of Washington, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Valente+EM%22">Valente EM</searchLink>; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy enzamaria.valente@unipv.it.; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
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  Data: <searchLink fieldCode="JN" term="%222985087R%22">Journal of medical genetics</searchLink> [J Med Genet] 2023 Sep; Vol. 60 (9), pp. 885-893. <i>Date of Electronic Publication: </i>2023 Feb 14.
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  Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22British+Medical+Association%22">British Medical Association </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>2985087R <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1468-6244 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200222593%22">00222593 </searchLink><i>NLM ISO Abbreviation: </i>J Med Genet <i>Subsets: </i>MEDLINE
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