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Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases.
Damián, Alejandra; Núñez-Moreno, Gonzalo; Jubin, Claire; Tamayo, Alejandra; de Alba, Marta Rodríguez; Villaverde, Cristina; Fund, Cédric; Delépine, Marc; Leduc, Aurélie; Deleuze, Jean François; Mínguez, Pablo; Ayuso, Carmen; Corton, Marta.
Affiliation
  • Damián A; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040, Madrid, Spain.
  • Núñez-Moreno G; Centre for Biomedical Network Research On Rare Diseases (CIBERER), 28029, Madrid, Spain.
  • Jubin C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040, Madrid, Spain.
  • Tamayo A; Centre for Biomedical Network Research On Rare Diseases (CIBERER), 28029, Madrid, Spain.
  • de Alba MR; Bioinformatics Unit, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040, Madrid, Spain.
  • Villaverde C; Centre National de Recherche en Génomique Humaine, Université Paris-Saclay, 91057, Evry, France.
  • Fund C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040, Madrid, Spain.
  • Delépine M; Centre for Biomedical Network Research On Rare Diseases (CIBERER), 28029, Madrid, Spain.
  • Leduc A; Department of Surgery, Medical and Social Sciences, Faculty of Medicine and Health Sciences, Science and Technology Campus, University of Alcalá, 28871, Alcalá de Henares, Spain.
  • Deleuze JF; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040, Madrid, Spain.
  • Mínguez P; Centre for Biomedical Network Research On Rare Diseases (CIBERER), 28029, Madrid, Spain.
  • Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040, Madrid, Spain.
  • Corton M; Centre for Biomedical Network Research On Rare Diseases (CIBERER), 28029, Madrid, Spain.
Hum Genomics ; 17(1): 45, 2023 06 02.
Article in En | MEDLINE | ID: mdl-37269011
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Full text: 1 Database: MEDLINE Main subject: Aniridia / Paired Box Transcription Factors Type of study: Prognostic_studies Limits: Humans Language: En Journal: Hum Genomics Journal subject: GENETICA Year: 2023 Type: Article Affiliation country: Spain
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Full text: 1 Database: MEDLINE Main subject: Aniridia / Paired Box Transcription Factors Type of study: Prognostic_studies Limits: Humans Language: En Journal: Hum Genomics Journal subject: GENETICA Year: 2023 Type: Article Affiliation country: Spain