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Sergouniotis, Panagiotis I; Black, Graeme CM

In Taylor and Hoyt's Pediatric Ophthalmology and Strabismus Edition: Sixth Edition. 2023:107-113

Ellingford, Jamie M. ; Telford, Nick ; Urquhart, Jill ; Will, Andrew M ; Bonney, Denise ; Adams, Ben ; Dixon, Rachel ; Kerr, Bronwyn ; Black, Graeme CM ; Wynn, Robert F ; Meyer, Stefan

In Cancer Genetics August 2021 256-257:77-80

Vincent, Andrea L; Abeysekera, Nandoun; Bysterveldt, Katherine A; Oliver, Verity F; Ellingford, Jamie M; Barton, Stephanie; Black, Graeme CM

Clinical & Experimental Ophthalmology. Dec2017, Vol. 45 Issue 9, p901-910. 10p.

Edwards, Thomas L; Burt, Benjamin O; Black, Graeme CM; Perveen, Rahat; Kearns, Lisa S; Staffieri, Sandra E; Toomes, Carmel; Buttery, Robert G; Mackey, David A

Clinical & Experimental Ophthalmology. Jul2012, Vol. 40 Issue 5, p476-483. 8p. 2 Color Photographs, 2 Diagrams, 3 Charts, 1 Graph.

Ellingford, Jamie M; George, Ryan; McDermott, John H; Ahmad, Shazaad; Edgerley, Jonathan J; Gokhale, David; Newman, William G; Ball, Stephen; Machin, Nicholas; Black, Graeme CM

eLife. March 17, 2021, Vol. 10

Ellingford, Jamie M; Horn, Bradley; Campbell, Christopher; Arno, Gavin; Barton, Stephanie; Tate, Catriona; Bhaskar, Sanjeev; Sergouniotis, Panagiotis I; Taylor, Rachel L; Carss, Keren J; Raymond, Lucy FL; Michaelides, Michel; Ramsden, Simon C; Webster, Andrew R; Black, Graeme CM

J Med Genet
Ellingford, J, Horn, B, Campbell, C, Arno, G, Barton, S, Tate, C, Bhaskar, S, Sergouniotis, P, Taylor, R L, Carss, K J, Raymond, F L, Michaelides, M, Ramsden, S C, Webster, A R & Black, G 2018, 'Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.', Journal of Medical Genetics, vol. 55, no. 2, pp. 114-121. https://doi.org/10.1136/jmedgenet-2017-104791

Harrison, Mark; Birch, Stephen; Eden, Martin; Ramsden, Simon; Farragher, Tracey; Payne, Katherine; Hall, Georgina; Black, Graeme CM

Journal of Community Genetics; Apr2015, Vol. 6 Issue 2, p157-165, 9p

Vincent, Andrea L; Abeysekera, Nandoun; Black, Graeme CM

Clinical & Experimental Ophthalmology. Nov 01, 2014 42 Suppl 1:42-42

Ellingford, Jamie M; Thomas, Huw B; Rowlands, Charlie; Arno, Gavin; Beaman, Glenda; Gomes-Silva, Beatriz; Campbell, Christopher; Gossan, Nicole; Hardcastle, Claire; Webb, Kevin; OCallaghan, Christopher; Hirst, Robert A; Ramsden, Simon; Jones, Elizabeth; Clayton-Smith, Jill; Webster, Andrew R; OKeefe, Raymond T; Newman, William G; Black, Graeme CM

Ellingford, JM, Thomas, HB, Rowlands, C, Arno, G, Beaman, G, Gomes-Silva, B, Campbell, C, Gossan, N, Hardcastle, C, Webb, K, O'Callaghan, C, Hirst, RA & Consortium, G E R 2019, 'Functional and in-silico interrogation of rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders', bioRxiv. https://doi.org/10.1101/781088

Ellingford, Jamie M; Beaman, Glenda; Webb, Kevin; O’Callaghan, Christopher; Hirst, Robert A; Black, Graeme CM; Newman, William G

Moosajee, Mariya; Ramsden, Simon C; Black, Graeme CM; Seabra, Miguel C; Webster, Andrew R

European Journal of Human Genetics. Apr2014, Vol. 22 Issue 4, p00. 0p.

Burkitt Wright, Emma MM; Porter, Louise F; Spencer, Helen L; Clayton-Smith, Jill; Au, Leon; Munier, Francis L; Smithson, Sarah; Suri, Mohnish; Rohrbach, Marianne; Manson, Forbes DC; Black, Graeme CM

Orphanet Journal of Rare Diseases. May 4, 2013, Vol. 8

Johnston JJ; National Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland, USA.; Williamson KA; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, UK.; Chou CM; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA.; Department of Emergency Medicine, The Permanente Medical Group (TPMG), Roseville/Sacramento, California, USA.; Sapp JC; National Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland, USA.; Ansari M; MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.; DNA Diagnostic Laboratory, South East Scotland Regional Genetics Services, Western General Hospital, Edinburgh, UK.; Chapman HM; Department of Cell Biology and Human Anatomy, University of California Davis, Davis, California, USA.; Cooper DN; Institute of Medical Genetics, Cardiff University, Cardiff, UK.; Dabir T; Northern Ireland Regional Genetics Service (NIRGS), Belfast City Hospital, Belfast, UK.; Dudley JN; National Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland, USA.; Holt RJ; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.; Ragge NK; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Schäffer AA; Computational Biology Branch, National Center for Biotechnology Information, Bethesda, Maryland, USA.; Cancer Data Science Laboratory, National Cancer Institute, Bethesda, Maryland, USA.; Sen SK; Leidos Biomedical Research, Inc, Basic Science Program, Cancer & Inflammation, Frederick National Laboratory for Cancer Research, Bethesda, Maryland, USA.; Slavotinek AM; Department of Pediatrics and Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.; FitzPatrick DR; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, UK.; Glaser TM; Department of Cell Biology and Human Anatomy, University of California Davis, Davis, California, USA.; Stewart F; Northern Ireland Regional Genetics Service (NIRGS), Belfast City Hospital, Belfast, UK.; Black GC; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; St Mary's Hospital, Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, Manchester, UK.; Biesecker LG; National Institutes of Health, National Human Genome Research Institute, Bethesda, Maryland, USA.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Ansar M; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland.; Chung HL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Taylor RL; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St. Mary's Hospital, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester M13 9PL, UK.; Nazir A; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan.; Imtiaz S; Department of Genetics, University of Karachi, Karachi 75270, Pakistan.; Sarwar MT; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan.; Manousopoulou A; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St. Mary's Hospital, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester M13 9PL, UK.; Makrythanasis P; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland; Biomedical Research Foundation of the Academy of Athens, Athens 115 27, Greece.; Saeed S; Department of Genetics, University of Karachi, Karachi 75270, Pakistan.; Falconnet E; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland.; Guipponi M; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland.; Pournaras CJ; Hirslanden Clinique La Colline, Geneva 1206, Switzerland.; Ansari MA; Department of Genetics, University of Karachi, Karachi 75270, Pakistan.; Ranza E; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland.; Santoni FA; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland; Department of Endocrinology Diabetes and Metabolism, University hospital of Lausanne, Lausanne 1011, Switzerland.; Ahmed J; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan.; Shah I; Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25100, Pakistan.; Gul K; Department of Genetics, University of Karachi, Karachi 75270, Pakistan; Department of Bio Sciences, Faculty of Life Science, Mohammad Ali Jinnah University, Karachi 75400, Pakistan.; Black GC; Manchester Centre for Genomic Medicine, Manchester Academic Health Sciences Centre, Manchester University NHS Foundation Trust, St. Mary's Hospital, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester M13 9PL, UK.; Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Houston TX 77030, USA; Department of Neuroscience and Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: hbellen@bcm.edu.; Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, Geneva 1211, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, Geneva 1205, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, Geneva 1211, Switzerland. Electronic address: stylianos.antonarakis@unige.ch.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Cehajic-Kapetanovic, Jasmina; Xue, Kanmin; de la Camara, Cristina Martinez-Fernandez; Nanda, Anika; Davies, Alexandra; Wood, Laura J; Salvetti, Anna Paola; Fischer, M Dominik; Aylward, James W; Barnard, Alun R; Jolly, Jasleen K; Luo, Edmond; Lujan, Brandon J; Ong, Tuyen; Girach, Aniz; Black, Graeme CM; Gregori, Ninel Z; Davis, Janet L; Rosa, Potyra R; Lotery, Andrew J; Lam, Byron L; Stanga, Paulo E; MacLaren, Robert E

Nat Med

Ellingford JM; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.; Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Health Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Campbell C; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.; Barton S; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.; Bhaskar S; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.; Gupta S; Ganit Labs, Bio-IT Centre, Institute of Bioinformatics and Applied Biotechnology, Bangalore, India.; Taylor RL; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.; Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Health Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Sergouniotis PI; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.; Horn B; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.; Lamb JA; Division of Population Health, Health Services Research and Primary Care, School of Health Sciences, Faculty of Medicine, Biology and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Michaelides M; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; UCL Institute of Ophthalmology, Department of Genetics, London, UK.; Webster AR; Moorfields Eye Hospital NHS Foundation Trust, London, UK.; UCL Institute of Ophthalmology, Department of Genetics, London, UK.; Newman WG; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.; Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Health Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Panda B; Ganit Labs, Bio-IT Centre, Institute of Bioinformatics and Applied Biotechnology, Bangalore, India.; Ramsden SC; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.; Black GC; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.; Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Health Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE