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Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.
Van de Sompele, Stijn; Small, Kent W; Cicekdal, Munevver Burcu; Soriano, Víctor López; D'haene, Eva; Shaya, Fadi S; Agemy, Steven; Van der Snickt, Thijs; Rey, Alfredo Dueñas; Rosseel, Toon; Van Heetvelde, Mattias; Vergult, Sarah; Balikova, Irina; Bergen, Arthur A; Boon, Camiel J F; De Zaeytijd, Julie; Inglehearn, Chris F; Kousal, Bohdan; Leroy, Bart P; Rivolta, Carlo; Vaclavik, Veronika; van den Ende, Jenneke; van Schooneveld, Mary J; Gómez-Skarmeta, José Luis; Tena, Juan J; Martinez-Morales, Juan R; Liskova, Petra; Vleminckx, Kris; De Baere, Elfride.
Afiliación
  • Van de Sompele S; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Small KW; Macula and Retina Institute, Los Angeles and Glendale, California, USA.
  • Cicekdal MB; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium; Department of Biomedical Molecular Biology, Ghent University, Ghent, Belgium.
  • Soriano VL; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • D'haene E; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Shaya FS; Macula and Retina Institute, Los Angeles and Glendale, California, USA.
  • Agemy S; Department of Ophthalmology, SUNY Downstate Medical Center University, Brooklyn, New York, USA.
  • Van der Snickt T; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Rey AD; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Rosseel T; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Van Heetvelde M; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Vergult S; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Balikova I; Department of Ophthalmology, University Hospitals Leuven, Leuven, Belgium.
  • Bergen AA; Department of Human Genetics, Amsterdam UMC, Academic Medical Center, 1105 AZ Amsterdam, The Netherlands; Queen Emma Centre of Precision Medicine, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • Boon CJF; Department of Ophthalmology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.
  • De Zaeytijd J; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.
  • Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
  • Kousal B; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
  • Leroy BP; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium; Department of Head & Skin, Ghent University, Ghent, Belgium; Division of Ophthalmology & Center for Cellular & Molecular Therapeutics, Children'
  • Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland; Department of Ophthalmology, University of Basel, Basel, Switzerland; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
  • Vaclavik V; University of Lausanne, Jules-Gonin Eye Hospital, Lausanne, Switzerland.
  • van den Ende J; Center for Medical Genetics, Antwerp University Hospital, Antwerp, Belgium.
  • van Schooneveld MJ; Department of Ophthalmology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands; Bartiméus, Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands.
  • Gómez-Skarmeta JL; Centro Andaluz de Biología del Desarrollo, Consejo Superior de Investigaciones Científicas and Universidad Pablo de Olavide, Sevilla, Spain.
  • Tena JJ; Centro Andaluz de Biología del Desarrollo, Consejo Superior de Investigaciones Científicas and Universidad Pablo de Olavide, Sevilla, Spain.
  • Martinez-Morales JR; Centro Andaluz de Biología del Desarrollo, Consejo Superior de Investigaciones Científicas and Universidad Pablo de Olavide, Sevilla, Spain.
  • Liskova P; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague,
  • Vleminckx K; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium; Department of Biomedical Molecular Biology, Ghent University, Ghent, Belgium.
  • De Baere E; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium. Electronic address: elfride.debaere@ugent.be.
Am J Hum Genet ; 109(11): 2029-2048, 2022 11 03.
Article en En | MEDLINE | ID: mdl-36243009
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Distrofias Hereditarias de la Córnea / Tomografía de Coherencia Óptica Límite: Adult / Animals / Humans Idioma: En Revista: Am J Hum Genet Año: 2022 Tipo del documento: Article País de afiliación: Bélgica
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Distrofias Hereditarias de la Córnea / Tomografía de Coherencia Óptica Límite: Adult / Animals / Humans Idioma: En Revista: Am J Hum Genet Año: 2022 Tipo del documento: Article País de afiliación: Bélgica