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Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.

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Title: Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.
Authors: Aspromonte MC; Department of Biomedical Sciences, University of Padova, Padua, Italy.; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Padua, Italy., Del Conte A; Department of Biomedical Sciences, University of Padova, Padua, Italy., Polli R; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Padua, Italy.; Fondazione Istituto Di Ricerca Pediatrica (IRP), Città Della Speranza, Padua, Italy., Baldo D; Medical Genetics Unit, Treviso Hospital, Treviso, Italy., Benedicenti F; Genetic Counseling Service, Regional Hospital of Bolzano, Bolzano, Italy., Bettella E; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Padua, Italy.; Fondazione Istituto Di Ricerca Pediatrica (IRP), Città Della Speranza, Padua, Italy., Bigoni S; Medical Genetics Unit, Ferrara University Hospital, Ferrara, Italy., Boni S; Medical Genetics Unit, S. Martino Hospital, Belluno, Italy., Ciaccio C; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy., D'Arrigo S; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy., Donati I; Unit of Medical Genetics, AUSL Romagna, Cesena, Italy., Granocchio E; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy., Mammi I; Medical Genetics Unit, Mirano Hospital, Venice, Italy., Milani D; Fondazione IRCCS, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Negrin S; Scientific Institute, IRCCS E. Medea, dipartimento/Unità Operativa Conegliano, Treviso, Italy., Nosadini M; Paediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health, University Hospital of Padova, Padua, Italy., Soli F; Genetic Unit, UOM Patologia Clinica, S. Chiara Hospital of Trento, Trento, Italy., Stanzial F; Genetic Counseling Service, Regional Hospital of Bolzano, Bolzano, Italy., Turolla L; Medical Genetics Unit, Treviso Hospital, Treviso, Italy., Piovesan D; Department of Biomedical Sciences, University of Padova, Padua, Italy., Tosatto SCE; Department of Biomedical Sciences, University of Padova, Padua, Italy.; CNR IBIOM, Bari, Italy., Murgia A; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Padua, Italy.; Fondazione Istituto Di Ricerca Pediatrica (IRP), Città Della Speranza, Padua, Italy., Leonardi E; Department of Biomedical Sciences, University of Padova, Padua, Italy. emanuela.leonardi@unipd.it.; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Padua, Italy. emanuela.leonardi@unipd.it.
Source: Human genetics [Hum Genet] 2025 Mar; Vol. 144 (2-3), pp. 309-326. Date of Electronic Publication: 2025 Feb 28.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.
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  Data: <searchLink fieldCode="AU" term="%22Aspromonte+MC%22">Aspromonte MC</searchLink>; Department of Biomedical Sciences, University of Padova, Padua, Italy.; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Padua, Italy.<br /><searchLink fieldCode="AU" term="%22Del+Conte+A%22">Del Conte A</searchLink>; Department of Biomedical Sciences, University of Padova, Padua, Italy.<br /><searchLink fieldCode="AU" term="%22Polli+R%22">Polli R</searchLink>; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Padua, Italy.; Fondazione Istituto Di Ricerca Pediatrica (IRP), Città Della Speranza, Padua, Italy.<br /><searchLink fieldCode="AU" term="%22Baldo+D%22">Baldo D</searchLink>; Medical Genetics Unit, Treviso Hospital, Treviso, Italy.<br /><searchLink fieldCode="AU" term="%22Benedicenti+F%22">Benedicenti F</searchLink>; Genetic Counseling Service, Regional Hospital of Bolzano, Bolzano, Italy.<br /><searchLink fieldCode="AU" term="%22Bettella+E%22">Bettella E</searchLink>; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Padua, Italy.; Fondazione Istituto Di Ricerca Pediatrica (IRP), Città Della Speranza, Padua, Italy.<br /><searchLink fieldCode="AU" term="%22Bigoni+S%22">Bigoni S</searchLink>; Medical Genetics Unit, Ferrara University Hospital, Ferrara, Italy.<br /><searchLink fieldCode="AU" term="%22Boni+S%22">Boni S</searchLink>; Medical Genetics Unit, S. Martino Hospital, Belluno, Italy.<br /><searchLink fieldCode="AU" term="%22Ciaccio+C%22">Ciaccio C</searchLink>; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.<br /><searchLink fieldCode="AU" term="%22D'Arrigo+S%22">D'Arrigo S</searchLink>; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Donati+I%22">Donati I</searchLink>; Unit of Medical Genetics, AUSL Romagna, Cesena, Italy.<br /><searchLink fieldCode="AU" term="%22Granocchio+E%22">Granocchio E</searchLink>; Department of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico 'Carlo Besta', Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Mammi+I%22">Mammi I</searchLink>; Medical Genetics Unit, Mirano Hospital, Venice, Italy.<br /><searchLink fieldCode="AU" term="%22Milani+D%22">Milani D</searchLink>; Fondazione IRCCS, Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Negrin+S%22">Negrin S</searchLink>; Scientific Institute, IRCCS E. Medea, dipartimento/Unità Operativa Conegliano, Treviso, Italy.<br /><searchLink fieldCode="AU" term="%22Nosadini+M%22">Nosadini M</searchLink>; Paediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health, University Hospital of Padova, Padua, Italy.<br /><searchLink fieldCode="AU" term="%22Soli+F%22">Soli F</searchLink>; Genetic Unit, UOM Patologia Clinica, S. Chiara Hospital of Trento, Trento, Italy.<br /><searchLink fieldCode="AU" term="%22Stanzial+F%22">Stanzial F</searchLink>; Genetic Counseling Service, Regional Hospital of Bolzano, Bolzano, Italy.<br /><searchLink fieldCode="AU" term="%22Turolla+L%22">Turolla L</searchLink>; Medical Genetics Unit, Treviso Hospital, Treviso, Italy.<br /><searchLink fieldCode="AU" term="%22Piovesan+D%22">Piovesan D</searchLink>; Department of Biomedical Sciences, University of Padova, Padua, Italy.<br /><searchLink fieldCode="AU" term="%22Tosatto+SCE%22">Tosatto SCE</searchLink>; Department of Biomedical Sciences, University of Padova, Padua, Italy.; CNR IBIOM, Bari, Italy.<br /><searchLink fieldCode="AU" term="%22Murgia+A%22">Murgia A</searchLink>; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Padua, Italy.; Fondazione Istituto Di Ricerca Pediatrica (IRP), Città Della Speranza, Padua, Italy.<br /><searchLink fieldCode="AU" term="%22Leonardi+E%22">Leonardi E</searchLink>; Department of Biomedical Sciences, University of Padova, Padua, Italy. emanuela.leonardi@unipd.it.; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Padua, Italy. emanuela.leonardi@unipd.it.
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  Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2025 Mar; Vol. 144 (2-3), pp. 309-326. <i>Date of Electronic Publication: </i>2025 Feb 28.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE
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