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Akademický článek

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

Autor: Xu M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Xie YA; Department of Ophthalmology, Columbia University, New York, NY 10032, USA., Abouzeid H; Institute for Research in Ophthalmology, 1950 Sion, Switzerland., Gordon CT; Laboratory of embryology and genetics of congenital malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France., Fiorentino A; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Sun Z; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China., Lehman A; Department of Medical Genetics, The University of British Columbia, Vancouver, BC V6H 3N1, Canada., Osman IS; Department of Ophthalmology, Cairo University, Cairo 11562, Egypt., Dharmat R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Riveiro-Alvarez R; Department of Genetics, Instituto de Investigación Sanitaria - Fundacion Jimenez Diaz (IIS-FJD), 28040 Madrid, Spain; Centros de Investigación Biomédica en Red Enfermedades Raras, Instituto de Salud Carlos III (CIBERER-ISCIII), 28029 Madrid, Spain., Bapst-Wicht L; Institute for Research in Ophthalmology, 1950 Sion, Switzerland., Babino D; Department of Pharmacology, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA., Arno G; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK., Busetto V; Laboratory of embryology and genetics of congenital malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, 75015 Paris, France; Institut de Biologie de l'ENS (IBENS), CNRS UMR 8197, INSERM U1024, Ecole Normale Supérieure, PSL Research University, 75005 Paris, France., Zhao L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Genomic Medicine, The University of Texas MD Anderson Cancer Center, Houston, TX 77054, USA., Li H; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China., Lopez-Martinez MA; Department of Genetics, Instituto de Investigación Sanitaria - Fundacion Jimenez Diaz (IIS-FJD), 28040 Madrid, Spain; Centros de Investigación Biomédica en Red Enfermedades Raras, Instituto de Salud Carlos III (CIBERER-ISCIII), 28029 Madrid, Spain., Azevedo LF; Institute for Research in Ophthalmology, 1950 Sion, Switzerland., Hubert L; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Translational Genetics, INSERM UMR 1163, Institut Imagine, 75015 Paris, France., Pontikos N; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Genetics Institute, University College London, London WC1E 6BT, UK., Eblimit A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Lorda-Sanchez I; Department of Genetics, Instituto de Investigación Sanitaria - Fundacion Jimenez Diaz (IIS-FJD), 28040 Madrid, Spain; Centros de Investigación Biomédica en Red Enfermedades Raras, Instituto de Salud Carlos III (CIBERER-ISCIII), 28029 Madrid, Spain., Kheir V; Institute for Research in Ophthalmology, 1950 Sion, Switzerland., Plagnol V; Genetics Institute, University College London, London WC1E 6BT, UK., Oufadem M; Laboratory of embryology and genetics of congenital malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France., Soens ZT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Yang L; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China., Bole-Feysot C; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Genomic Platform, INSERM UMR 1163, Institut Imagine, 75015 Paris, France., Pfundt R; Department of Human Genetics, Radboud University Nijmegen Medical Centre, 6525 Nijmegen, the Netherlands., Allaman-Pillet N; Institute for Research in Ophthalmology, 1950 Sion, Switzerland., Nitschké P; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Bioinformatic Platform, INSERM UMR 1163, Institut Imagine, 75015 Paris, France., Cheetham ME; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Lyonnet S; Laboratory of embryology and genetics of congenital malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France., Agrawal SA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Li H; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China., Pinton G; Institute for Research in Ophthalmology, 1950 Sion, Switzerland., Michaelides M; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK., Besmond C; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Translational Genetics, INSERM UMR 1163, Institut Imagine, 75015 Paris, France., Li Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA., Yuan Z; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China., von Lintig J; Department of Pharmacology, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA., Webster AR; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK., Le Hir H; Institut de Biologie de l'ENS (IBENS), CNRS UMR 8197, INSERM U1024, Ecole Normale Supérieure, PSL Research University, 75005 Paris, France., Stoilov P; Department of Biochemistry and Cancer Institute, Robert C. Byrd Health Sciences Center, West Virginia University, Morgantown, WV 26506, USA., Amiel J; Laboratory of embryology and genetics of congenital malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique - Hôpitaux de Paris, 75015 Paris, France., Hardcastle AJ; UCL Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Ayuso C; Department of Genetics, Instituto de Investigación Sanitaria - Fundacion Jimenez Diaz (IIS-FJD), 28040 Madrid, Spain; Centros de Investigación Biomédica en Red Enfermedades Raras, Instituto de Salud Carlos III (CIBERER-ISCIII), 28029 Madrid, Spain., Sui R; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China., Chen R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: ruichen@bcm.edu., Allikmets R; Department of Ophthalmology, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA. Electronic address: rla22@cumc.columbia.edu., Schorderet DF; Institute for Research in Ophthalmology, 1950 Sion, Switzerland; University of Lausanne and Swiss Federal Institute of Technology, 1015 Lausanne, Switzerland.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2017 Apr 06; Vol. 100 (4), pp. 592-604. Date of Electronic Publication: 2017 Mar 09.

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