Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.

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Title: Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.
Authors: Rodilla C; From the Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I., G.N.-M., P.M., C.A., M.C.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I, G.N.-M., P.M., C.A., M.C.)., Martín-Merida I; From the Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I., G.N.-M., P.M., C.A., M.C.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I, G.N.-M., P.M., C.A., M.C.)., Blanco-Kelly F; From the Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I., G.N.-M., P.M., C.A., M.C.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I, G.N.-M., P.M., C.A., M.C.)., Trujillo-Tiebas MJ; From the Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I., G.N.-M., P.M., C.A., M.C.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I, G.N.-M., P.M., C.A., M.C.)., Avila-Fernandez A; From the Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I., G.N.-M., P.M., C.A., M.C.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I, G.N.-M., P.M., C.A., M.C.)., Riveiro-Alvarez R; From the Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I., G.N.-M., P.M., C.A., M.C.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I, G.N.-M., P.M., C.A., M.C.)., Del Pozo-Valero M; From the Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I., G.N.-M., P.M., C.A., M.C.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I, G.N.-M., P.M., C.A., M.C.)., Perea-Romero I; From the Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I., G.N.-M., P.M., C.A., M.C.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I, G.N.-M., P.M., C.A., M.C.)., Swafiri ST; From the Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I., G.N.-M., P.M., C.A., M.C.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I, G.N.-M., P.M., C.A., M.C.)., Zurita O; From the Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I., G.N.-M., P.M., C.A., M.C.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I, G.N.-M., P.M., C.A., M.C.)., Villaverde C; From the Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I., G.N.-M., P.M., C.A., M.C.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I, G.N.-M., P.M., C.A., M.C.)., López MÁ; From the Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I., G.N.-M., P.M., C.A., M.C.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I, G.N.-M., P.M., C.A., M.C.)., Romero R; From the Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I., G.N.-M., P.M., C.A., M.C.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I, G.N.-M., P.M., C.A., M.C.); Bioinformatics Unit, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (R.R., I.F.I., G.N.-M., P.M.)., Iancu IF; From the Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I., G.N.-M., P.M., C.A., M.C.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I, G.N.-M., P.M., C.A., M.C.); Bioinformatics Unit, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (R.R., I.F.I., G.N.-M., P.M.)., Núñez-Moreno G; From the Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I., G.N.-M., P.M., C.A., M.C.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I, G.N.-M., P.M., C.A., M.C.); Bioinformatics Unit, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (R.R., I.F.I., G.N.-M., P.M.)., Jiménez-Rolando B; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, Madrid, Spain (B.J.-R., M.P.M.-G., E.C., B.G.-S.)., Martin-Gutierrez MP; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, Madrid, Spain (B.J.-R., M.P.M.-G., E.C., B.G.-S.)., Carreño E; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, Madrid, Spain (B.J.-R., M.P.M.-G., E.C., B.G.-S.)., Minguez P; From the Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I., G.N.-M., P.M., C.A., M.C.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I, G.N.-M., P.M., C.A., M.C.); Bioinformatics Unit, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (R.R., I.F.I., G.N.-M., P.M.)., García-Sandoval B; Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, Madrid, Spain (B.J.-R., M.P.M.-G., E.C., B.G.-S.)., Ayuso C; From the Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I., G.N.-M., P.M., C.A., M.C.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I, G.N.-M., P.M., C.A., M.C.). Electronic address: cayuso@fjd.es., Corton M; From the Department of Genetics and Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I., G.N.-M., P.M., C.A., M.C.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain (C.R., I.M.-M., F.B.-K., M.J.T.-T., A.A.-F., R.R.-A., M.d.P.V., I.P.-R., S.T.S., O.Z., C.V., M.A.L., R.R., I.F.I, G.N.-M., P.M., C.A., M.C.). Electronic address: mcorton@fjd.es.
Source: American journal of ophthalmology [Am J Ophthalmol] 2023 Oct; Vol. 254, pp. 87-103. Date of Electronic Publication: 2023 Jun 15.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1891 (Electronic) Linking ISSN: 00029394 NLM ISO Abbreviation: Am J Ophthalmol Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1879-1891
DOI:10.1016/j.ajo.2023.05.015