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. |
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| 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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