Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.
Saved in:
| 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 |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1432-1203 |
|---|---|
| DOI: | 10.1007/s00439-025-02733-1 |
