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The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.
Patel, Aara; Hayward, Jane D; Tailor, Vijay; Nyanhete, Rodney; Ahlfors, Helena; Gabriel, Camila; Jannini, Tommaso B; Abbou-Rayyah, Yassir; Henderson, Robert; Nischal, Ken K; Islam, Lily; Bitner-Glindzicz, Maria; Hurst, Jane; Valdivia, Leonardo E; Zanolli, Mario; Moosajee, Mariya; Brookes, John; Papadopoulos, Maria; Khaw, Peng T; Cullup, Thomas; Jenkins, Lucy; Dahlmann-Noor, Annegret; Sowden, Jane C.
Afiliación
  • Patel A; UCL Great Ormond Street Institute of Child Health, and NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London, London, United Kingdom.
  • Hayward JD; UCL Great Ormond Street Institute of Child Health, and NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London, London, United Kingdom.
  • Tailor V; NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust, and UCL Institute of Ophthalmology, London, United Kingdom.
  • Nyanhete R; North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom.
  • Ahlfors H; North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom.
  • Gabriel C; UCL Great Ormond Street Institute of Child Health, and NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London, London, United Kingdom.
  • Jannini TB; UCL Great Ormond Street Institute of Child Health, and NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London, London, United Kingdom.
  • Abbou-Rayyah Y; Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom.
  • Henderson R; Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom.
  • Nischal KK; Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom; UPMC Eye Center, Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.
  • Islam L; UCL Great Ormond Street Institute of Child Health, and NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London, London, United Kingdom; Birmingham Women's Hospital, Birmingham, United Kingdom.
  • Bitner-Glindzicz M; UCL Great Ormond Street Institute of Child Health, and NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London, London, United Kingdom.
  • Hurst J; UCL Great Ormond Street Institute of Child Health, and NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London, London, United Kingdom.
  • Valdivia LE; Centre for Integrative Biology, Facultad de Ciencias, Universidad Mayor, Santiago, Chile.
  • Zanolli M; Facultad de Medicina Clínica Alemana de Santiago-Universidad del Desarrollo, Santiago, Chile.
  • Moosajee M; NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust, and UCL Institute of Ophthalmology, London, United Kingdom; Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom.
  • Brookes J; Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom; Glaucoma Service, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.
  • Papadopoulos M; Glaucoma Service, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.
  • Khaw PT; NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust, and UCL Institute of Ophthalmology, London, United Kingdom; Glaucoma Service, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.
  • Cullup T; North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom.
  • Jenkins L; UCL Great Ormond Street Institute of Child Health, and NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London, London, United Kingdom; North East Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NH
  • Dahlmann-Noor A; NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust, and UCL Institute of Ophthalmology, London, United Kingdom.
  • Sowden JC; UCL Great Ormond Street Institute of Child Health, and NIHR Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London, London, United Kingdom. Electronic address: j.sowden@ucl.ac.uk.
Ophthalmology ; 126(6): 888-907, 2019 06.
Article en En | MEDLINE | ID: mdl-30653986
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías del Ojo / Proteoma / Técnicas de Diagnóstico Molecular / Variaciones en el Número de Copia de ADN / Secuenciación de Nucleótidos de Alto Rendimiento / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Ophthalmology Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Anomalías del Ojo / Proteoma / Técnicas de Diagnóstico Molecular / Variaciones en el Número de Copia de ADN / Secuenciación de Nucleótidos de Alto Rendimiento / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Ophthalmology Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido