부산대학교 도서관

Zaman, Shafquat; Akingboye, Akinfemi; Mohamedahmed, Ali Yasen Y; Peterknecht, Elizabeth; Bhattacharya, Pratik; El-Asrag, Mohammed E; Iqbal, Tariq H; Quraishi, Mohammed Nabil; Beggs, Andrew D

Journal of Crohn's & Colitis. Jan2024, Vol. 18 Issue 1, p144-161. 18p.

Zaman, Shafquat; Hajibandeh, Shahin; Hajibandeh, Shahab; Mohamedahmed, Ali Yasen Y; El‐Asrag, Mohammed E; Quraishi, Nabil; Iqbal, Tariq H; Beggs, Andrew D

JGH Open; Oct2022, Vol. 6 Issue 10, p711-722, 12p

Mahmood, Tariq; El-Asrag, Mohammed E; Poulter, James A; Cardno, Alastair G; Tomlinson, Anneka; Ahmed, Sophia; Al-Amri, Ahmed; Nazari, Jamshid; Neill, Joanna; Chamali, Rifka S; Kiwan, Nancy; Ghuloum, Suhaila; Alhaj, Hamid A; Moor, Juliette Randerson; Khan, Shabana; Al-Amin, Hassen; Johnson, Colin A; Woodruff, Peter; Wilkinson, Iain D; Ali, Manir

Schizophrenia Bulletin; May2021, Vol. 47 Issue 3, p796-802, 7p

Sergouniotis, Panagiotis I ; Robson, Anthony G ; El-Asrag, Mohammed E ; Ali, Manir ; Holder, Graham E ; Black, Graeme C ; Webster, Andrew R ; Plagnol, Vincent

In The Lancet 23 February 2017 389 Supplement 1:S14-S14

Wanigasooriya K; Institute of Cancer and Genomic Science, College of Medical and Dental Science, University of Birmingham, Birmingham, United Kingdom.; Department of Surgery, University Hospitals Birmingham National Health Service (NHS) Foundation Trust, Birmingham, United Kingdom.; Barros-Silva JD; Institute of Cancer and Genomic Science, College of Medical and Dental Science, University of Birmingham, Birmingham, United Kingdom.; Tee L; Institute of Cancer and Genomic Science, College of Medical and Dental Science, University of Birmingham, Birmingham, United Kingdom.; El-Asrag ME; Institute of Cancer and Genomic Science, College of Medical and Dental Science, University of Birmingham, Birmingham, United Kingdom.; Stodolna A; Institute of Cancer and Genomic Science, College of Medical and Dental Science, University of Birmingham, Birmingham, United Kingdom.; Pickles OJ; Institute of Cancer and Genomic Science, College of Medical and Dental Science, University of Birmingham, Birmingham, United Kingdom.; Department of Surgery, University Hospitals Birmingham National Health Service (NHS) Foundation Trust, Birmingham, United Kingdom.; Stockton J; Institute of Cancer and Genomic Science, College of Medical and Dental Science, University of Birmingham, Birmingham, United Kingdom.; Bryer C; Institute of Cancer and Genomic Science, College of Medical and Dental Science, University of Birmingham, Birmingham, United Kingdom.; Hoare R; Institute of Cancer and Genomic Science, College of Medical and Dental Science, University of Birmingham, Birmingham, United Kingdom.; Whalley CM; Institute of Cancer and Genomic Science, College of Medical and Dental Science, University of Birmingham, Birmingham, United Kingdom.; Tyler R; Institute of Cancer and Genomic Science, College of Medical and Dental Science, University of Birmingham, Birmingham, United Kingdom.; Department of Surgery, University Hospitals Birmingham National Health Service (NHS) Foundation Trust, Birmingham, United Kingdom.; Sillo T; Institute of Cancer and Genomic Science, College of Medical and Dental Science, University of Birmingham, Birmingham, United Kingdom.; Department of Surgery, University Hospitals Birmingham National Health Service (NHS) Foundation Trust, Birmingham, United Kingdom.; Yau C; Institute of Cancer and Genomic Science, College of Medical and Dental Science, University of Birmingham, Birmingham, United Kingdom.; Ismail T; Department of Surgery, University Hospitals Birmingham National Health Service (NHS) Foundation Trust, Birmingham, United Kingdom.; Beggs AD; Institute of Cancer and Genomic Science, College of Medical and Dental Science, University of Birmingham, Birmingham, United Kingdom.; Department of Surgery, University Hospitals Birmingham National Health Service (NHS) Foundation Trust, Birmingham, United Kingdom.

Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101568867 Publication Model: eCollection Cited Medium: Print ISSN: 2234-943X (Print) Linking ISSN: 2234943X NLM ISO Abbreviation: Front Oncol Subsets: PubMed not MEDLINE

El-Asrag ME; Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds, UK.; Department of Zoology, Faculty of Science, Benha University, Benha, Egypt.; Corton M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital- Universidad Autónoma de Madrid (IIS-FJD, UAM), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; McKibbin M; Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds, UK.; The Eye Department, St. James's University Hospital, Leeds, UK.; Avila-Fernandez A; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital- Universidad Autónoma de Madrid (IIS-FJD, UAM), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Mohamed MD; Ophthalmology Department, St Thomas' Hospital, London, UK.; Blanco-Kelly F; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital- Universidad Autónoma de Madrid (IIS-FJD, UAM), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Toomes C; Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds, UK.; Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds, UK.; Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital- Universidad Autónoma de Madrid (IIS-FJD, UAM), Centre for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain.; Ali M; Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds, UK.

Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: eCollection Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

Nikolopoulos G; Division of Molecular Medicine, Leeds Institute of Medical Research, The University of Leeds, Leeds, UK.; Department of Oral Biology, School of Dentistry, St James's University Hospital, The University of Leeds, Leeds, UK.; Smith CEL; Division of Molecular Medicine, Leeds Institute of Medical Research, The University of Leeds, Leeds, UK.; Brookes SJ; Department of Oral Biology, School of Dentistry, St James's University Hospital, The University of Leeds, Leeds, UK.; El-Asrag ME; Division of Molecular Medicine, Leeds Institute of Medical Research, The University of Leeds, Leeds, UK.; Division of Cardiovascular Sciences, School of Medicine, Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK.; Department of Zoology, Faculty of Science, Benha University, Benha, Egypt.; Brown CJ; Birmingham Dental Hospital, Mill Pool Way, Edgbaston, Birmingham, UK.; Patel A; Birmingham Dental Hospital, Mill Pool Way, Edgbaston, Birmingham, UK.; Murillo G; School of Dentistry, Ciudad Universitaria Rodrigo Facio, Montes De Oca, Universidad de Costa Rica, San Jose, Costa Rica.; O'Connell MJ; School of Biology, Faculty of Biological Sciences, The University of Leeds, Leeds, UK.; School of Life Sciences, Faculty of Medicine and Health Sciences, The University of Nottingham, Nottingham, UK.; Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, The University of Leeds, Leeds, UK.; Mighell AJ; Department of Oral Biology, School of Dentistry, St James's University Hospital, The University of Leeds, Leeds, UK.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Yahya S; Leeds Institute of Medical Research, School of Medicine, University of Leeds, St James's University Hospital, Wellcome Trust Brenner Building, Beckett Street, Leeds, LS9 7TF, UK.; Department of Medical Genetics, School of Medicine, King Abdulaziz University, Rabigh, Kingdom of Saudi Arabia.; Watson CM; Leeds Institute of Medical Research, School of Medicine, University of Leeds, St James's University Hospital, Wellcome Trust Brenner Building, Beckett Street, Leeds, LS9 7TF, UK.; North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds, UK.; Carr I; Leeds Institute of Medical Research, School of Medicine, University of Leeds, St James's University Hospital, Wellcome Trust Brenner Building, Beckett Street, Leeds, LS9 7TF, UK.; McKibbin M; Leeds Institute of Medical Research, School of Medicine, University of Leeds, St James's University Hospital, Wellcome Trust Brenner Building, Beckett Street, Leeds, LS9 7TF, UK.; Department of Ophthalmology, St. James's University Hospital, Leeds, UK.; Crinnion LA; Leeds Institute of Medical Research, School of Medicine, University of Leeds, St James's University Hospital, Wellcome Trust Brenner Building, Beckett Street, Leeds, LS9 7TF, UK.; Taylor M; Leeds Institute of Medical Research, School of Medicine, University of Leeds, St James's University Hospital, Wellcome Trust Brenner Building, Beckett Street, Leeds, LS9 7TF, UK.; Bonin H; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, UK.; Fletcher T; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester, UK.; El-Asrag ME; Leeds Institute of Medical Research, School of Medicine, University of Leeds, St James's University Hospital, Wellcome Trust Brenner Building, Beckett Street, Leeds, LS9 7TF, UK.; Department of Zoology, Faculty of Science, Benha University, Banha, Egypt.; Institute of Cancer and Genomic Science, University of Birmingham, Birmingham, UK.; Ali M; Leeds Institute of Medical Research, School of Medicine, University of Leeds, St James's University Hospital, Wellcome Trust Brenner Building, Beckett Street, Leeds, LS9 7TF, UK.; Toomes C; Leeds Institute of Medical Research, School of Medicine, University of Leeds, St James's University Hospital, Wellcome Trust Brenner Building, Beckett Street, Leeds, LS9 7TF, UK.; Inglehearn CF; Leeds Institute of Medical Research, School of Medicine, University of Leeds, St James's University Hospital, Wellcome Trust Brenner Building, Beckett Street, Leeds, LS9 7TF, UK. c.inglehearn@leeds.ac.uk.

Publisher: Adis, Springer International Country of Publication: New Zealand NLM ID: 101264260 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1179-2000 (Electronic) Linking ISSN: 11771062 NLM ISO Abbreviation: Mol Diagn Ther Subsets: MEDLINE

El-Asrag, Mohammed E; Sergouniotis, Panagiotis; McKibbin, Martin; Plagnol, Vincent; Sheridan, Eamonn; Waseem, Naushin; Abdelhamed, Zakia; McKeefry, Declan; Van Schil, Kristof; Poulter, James A; Johnson, Colin A; Carr, Ian M; Leroy, Bart P; De Baere, Elfride; Inglehearn, Chris F; Webster, Andrew R; Toomes, Carmel; Ali, Manir; Black, Graeme; Hall, Georgina; Ingram, Stuart; Gillespie, Rachel; Ramsden, Simon; Manson, Forbes; Hardcastle, Alison; Michaelides, Michel; Cheetham, Michael; Arno, Gavin; Thomas, Niclas; Bhattacharya, Shomi; Moore, Tony; Nemeth, Andrea; Downes, Susan; Lise, Stefano; Lord, Emma

El-Asrag, M E, Sergouniotis, P, McKibbin, M, Plagnol, V, Sheridan, E, Waseem, N, Abdelhamed, Z, McKeefry, D, Van Schil, K, Poulter, J A, Johnson, C A, Carr, I M, Leroy, B P, De Baere, E, Inglehearn, C F, Webster, A R, Toomes, C, Ali, M, Black, G, Hall, G, Ingram, S, Gillespie, R, Ramsden, S, Manson, F, Hardcastle, A, Michaelides, M, Cheetham, M, Arno, G, Thomas, N, Bhattacharya, S, Moore, T, Nemeth, A, Downes, S, Lise, S & Lord, E 2015, 'Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.', American Journal of Human Genetics, vol. 96, no. 6. https://doi.org/10.1016/j.ajhg.2015.04.006

Fletcher SC; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.; Hall C; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.; Kennedy TJ; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.; Pajusalu S; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Wojcik MH; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Boora U; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.; Li C; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.; Oja KT; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Hendrix E; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.; Westrip CA; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.; Andrijes R; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.; Piasecka SK; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.; Singh M; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.; El-Asrag ME; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.; Faculty of Science, Benha University, Benha, Egypt.; Ptasinska A; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.; Tillmann V; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Higgs MR; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.; Carere DA; GeneDx, Gaithersburg, Maryland, USA.; Beggs AD; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.; Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU Langone Medical Center, New York, New York, USA.; Rabin R; Clinical Genetic Services, Department of Pediatrics, NYU Langone Medical Center, New York, New York, USA.; Smerdon SJ; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.; Stewart GS; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.; Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Coleman ML; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Kumar A; Department of Gastroenterology, The Royal Wolverhampton NHS Trust, Wolverhampton, United Kingdom.; Quraishi MN; Microbiome Treatment Centre, University of Birmingham Microbiome Treatment Centre, Birmingham, United Kingdom.; Department of Gastroenterology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom.; Al-Hassi HO; Faculty of Science and Engineering, University of Wolverhampton, Wolverhampton, United Kingdom.; El-Asrag ME; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.; Faculty of Science, Benha University, Benha, Egypt.; Segal JP; Department of Gastroenterology, Northern Hospital, Melbourne, VIC, Australia.; Department of Medicine, University of Melbourne, Parkville, VIC, Australia.; Jain M; Department of Gastroenterology, The Royal Wolverhampton NHS Trust, Wolverhampton, United Kingdom.; Steed H; Department of Gastroenterology, The Royal Wolverhampton NHS Trust, Wolverhampton, United Kingdom.; School of Medicine and Clinical Practice, Faculty of Sciences and Engineering, University of Wolverhampton, Wolverhampton, United Kingdom.; Butterworth J; Department of Gastroenterology, Shrewsbury and Telford Hospital NHS Trust, Shrewsbury, United Kingdom.; Farmer A; Department of Gastroenterology, University Hospitals of North Midlands, Stoke-on-Trent, United Kingdom.; Mclaughlin J; Division of Diabetes, Endocrinology and Gastroenterology, Faculty of Biology Medicine and Health, The University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom.; Department of Gastroenterology, Salford Royal Foundation Trust, Salford, United Kingdom.; Beggs A; Microbiome Treatment Centre, University of Birmingham Microbiome Treatment Centre, Birmingham, United Kingdom.; Faculty of Science and Engineering, University of Wolverhampton, Wolverhampton, United Kingdom.; Brookes MJ; Department of Gastroenterology, The Royal Wolverhampton NHS Trust, Wolverhampton, United Kingdom.; School of Medicine and Clinical Practice, Faculty of Sciences and Engineering, University of Wolverhampton, Wolverhampton, United Kingdom.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101548977 Publication Model: eCollection Cited Medium: Print ISSN: 1664-302X (Print) Linking ISSN: 1664302X NLM ISO Abbreviation: Front Microbiol Subsets: PubMed not MEDLINE

Yahya S; Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Leeds, United Kingdom; Department of Medical Genetics, School of Medicine, King Abdulaziz University, Rabigh, Saudi Arabia.; Smith CEL; Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Leeds, United Kingdom.; Poulter JA; Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Leeds, United Kingdom.; McKibbin M; Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Leeds, United Kingdom; Department of Ophthalmology, St. James's University Hospital, Leeds, United Kingdom.; Arno G; NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust & UCL Institute of Ophthalmology, London, United Kingdom.; Ellingford J; Manchester Academic Health Science Centre, School of Biological Sciences, University of Manchester, Manchester, United Kingdom.; Kämpjärvi K; Blueprint Genetics Oy, Espoo, Finland.; Khan MI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Hardcastle AJ; NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust & UCL Institute of Ophthalmology, London, United Kingdom.; Castle B; Peninsula Genetics Service, Royal Devon and Exeter Hospitals NHS Trust, Exeter, United Kingdom.; Steel DHW; Sunderland Eye Infirmary, Sunderland, United Kingdom; The Bioscience Institute, Newcastle University, Newcastle upon Tyne, United Kingdom.; Webster AR; NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust & UCL Institute of Ophthalmology, London, United Kingdom.; Black GC; Manchester Academic Health Science Centre, School of Biological Sciences, University of Manchester, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom.; El-Asrag ME; Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Leeds, United Kingdom; Department of Zoology, Faculty of Science, Benha University, Benha, Egypt; Institute of Cancer and Genomic Science, University of Birmingham, Birmingham, United Kingdom.; Ali M; Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Leeds, United Kingdom.; Toomes C; Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Leeds, United Kingdom.; Inglehearn CF; Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Leeds, United Kingdom. Electronic address: c.inglehearn@leeds.ac.uk.

Publisher: Elsevier Country of Publication: United States NLM ID: 7802443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-4713 (Electronic) Linking ISSN: 01616420 NLM ISO Abbreviation: Ophthalmology Subsets: MEDLINE

Al-Amri AH; School of Biomedical Sciences, University of Leeds, Leeds, United Kingdom; Leeds Institute of Medical Research, University of Leeds, Leeds, United Kingdom; National Genetic Centre, Royal Hospital, Muscat, Oman.; Armstrong P; School of Biomedical Sciences, University of Leeds, Leeds, United Kingdom.; Amici M; School of Physiology, Pharmacology & Neuroscience, University of Bristol, Bristol, United Kingdom.; Ligneul C; Wellcome Centre for Integrative Neuroimaging, Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford, United Kingdom.; Rouse J; School of Biology, University of Leeds, Leeds, United Kingdom.; El-Asrag ME; Leeds Institute of Medical Research, University of Leeds, Leeds, United Kingdom; Department of Zoology, Faculty of Science, Benha University, Benha, Egypt; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham.; Pantiru A; School of Biomedical Sciences, University of Leeds, Leeds, United Kingdom.; Vancollie VE; Wellcome Trust Sanger Institute, Hinxton, United Kingdom.; Ng HWY; School of Biomedical Sciences, University of Leeds, Leeds, United Kingdom.; Ogbeta JA; School of Biomedical Sciences, University of Leeds, Leeds, United Kingdom.; Goodchild K; School of Biomedical Sciences, University of Leeds, Leeds, United Kingdom.; Ellegood J; Mouse Imaging Centre, Hospital for Sick Children, Toronto, Ontario, Canada.; Lelliott CJ; Wellcome Trust Sanger Institute, Hinxton, United Kingdom.; Mullins JGL; Institute of Life Science, Swansea University, Swansea, United Kingdom.; Bretman A; School of Biology, University of Leeds, Leeds, United Kingdom.; Al-Ali R; Centogene GmbH, Rostock, Germany.; Beetz C; Centogene GmbH, Rostock, Germany.; Al-Gazali L; Department of Paediatrics, College of Medicine & Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.; Al Shamsi A; Pediatrics Department, Tawam Hospital, Al Ain, United Arab Emirates.; Lerch JP; Wellcome Centre for Integrative Neuroimaging, Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford, United Kingdom.; Mellor JR; School of Physiology, Pharmacology & Neuroscience, University of Bristol, Bristol, United Kingdom.; Al Sayegh A; Genetics Department, Sultan Qaboos University Hospital, Muscat, Oman.; Ali M; Leeds Institute of Medical Research, University of Leeds, Leeds, United Kingdom.; Inglehearn CF; Leeds Institute of Medical Research, University of Leeds, Leeds, United Kingdom.; Clapcote SJ; School of Biomedical Sciences, University of Leeds, Leeds, United Kingdom. Electronic address: s.j.clapcote@leeds.ac.uk.

Publisher: Elsevier Country of Publication: United States NLM ID: 0213264 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2402 (Electronic) Linking ISSN: 00063223 NLM ISO Abbreviation: Biol Psychiatry Subsets: MEDLINE

Astuti GDN; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands. Galuh.Astuti@radboudumc.nl.; Radboud Institute for Molecular Life Sciences, Radboud University, 6525 GA Nijmegen, The Netherlands. Galuh.Astuti@radboudumc.nl.; van den Born LI; The Rotterdam Eye Hospital, 3011 BH Rotterdam, The Netherlands. Born@eyehospital.nl.; Khan MI; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands. MuhammadImran.Khan@radboudumc.nl.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, 6525 EN Nijmegen, The Netherlands. MuhammadImran.Khan@radboudumc.nl.; Hamel CP; Institut National de la Santé et de la Recherche Médicale, Institute for Neurosciences of Montpellier, 34080 Montpellier, France. christian.hamel@inserm.fr.; University of Montpellier, 34090 Montpellier, France. christian.hamel@inserm.fr.; CHRU, Genetics of Sensory Diseases, 34295 Montpellier, France. christian.hamel@inserm.fr.; Bocquet B; Institut National de la Santé et de la Recherche Médicale, Institute for Neurosciences of Montpellier, 34080 Montpellier, France. Beatrice.Bocquet@inserm.fr.; University of Montpellier, 34090 Montpellier, France. Beatrice.Bocquet@inserm.fr.; CHRU, Genetics of Sensory Diseases, 34295 Montpellier, France. Beatrice.Bocquet@inserm.fr.; Manes G; Institut National de la Santé et de la Recherche Médicale, Institute for Neurosciences of Montpellier, 34080 Montpellier, France. Gael.Manes@inserm.fr.; University of Montpellier, 34090 Montpellier, France. Gael.Manes@inserm.fr.; Quinodoz M; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, 1015 Lausanne, Switzerland. Mathieu.Quinodoz@unil.ch.; Ali M; Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, St. James's University Hospital, LS9 7TF Leeds, UK. M.Ali@leeds.ac.uk.; Toomes C; Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, St. James's University Hospital, LS9 7TF Leeds, UK. C.Toomes@leeds.ac.uk.; McKibbin M; Department of Ophthalmology, St. James's University Hospital, LS9 7TF Leeds, UK. Martin.McKibbin@nhs.net.; El-Asrag ME; Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, St. James's University Hospital, LS9 7TF Leeds, UK.; Department of Zoology, Faculty of Science, Benha University, 13511 Benha, Egypt.; Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands. Lonneke.Haer-Wigman@radboudumc.nl.; Inglehearn CF; Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, St. James's University Hospital, LS9 7TF Leeds, UK. C.Inglehearn@leeds.ac.uk.; Black GCM; Centre for Genomic Medicine, St. Mary's Hospital, Manchester Academic Health Science Centre, University of Manchester, M13 9PL Manchester, UK. Graeme.Black@manchester.ac.uk.; Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, 6525 EX Nijmegen, The Netherlands. Carel.Hoyng@radboudumc.nl.; Cremers FPM; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands. Frans.Cremers@radboudumc.nl.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, 6525 EN Nijmegen, The Netherlands. Frans.Cremers@radboudumc.nl.; Roosing S; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands. Susanne.Roosing@radboudumc.nl.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, 6525 EN Nijmegen, The Netherlands. Susanne.Roosing@radboudumc.nl.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Print ISSN: 2073-4425 (Print) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: PubMed not MEDLINE

Bedoni N; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.; Haer-Wigman L; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.; Vaclavik V; Jules Gonin Eye Hospital, Lausanne, Switzerland.; Fertas Andrology Laboratory, Lausanne, Switzerland.; Tran VH; Jules Gonin Eye Hospital, Lausanne, Switzerland.; Farinelli P; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.; Balzano S; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.; Royer-Bertrand B; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.; Institute for Research in Ophtalmology, University of Lausanne and Ecole Polytechnique Federale de Lausanne, Switzerland.; El-Asrag ME; Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, UK.; Bonny O; Service of Nephrology, Lausanne University Hospital (CHUV), Lausanne, Switzerland.; Ikonomidis C; Department of Otorhinolaryngology, Head and Neck Surgery, Lausanne University Hospital (CHUV), Lausanne, Switzerland.; Litzistorf Y; Department of Otorhinolaryngology, Head and Neck Surgery, Lausanne University Hospital (CHUV), Lausanne, Switzerland.; Nikopoulos K; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.; Yioti GG; Department of Ophthalmology, University of Ioannina School of Medicine, Ioannina, Greece.; Stefaniotou MI; Department of Ophthalmology, University of Ioannina School of Medicine, Ioannina, Greece.; McKibbin M; The Eye Department, St. James's University Hospital, Leeds, UK.; Booth AP; Royal Eye Infirmary, Derriford Hospital, Plymouth, UK.; Ellingford JM; Centre for Genomic Medicine, St. Mary's Hospital, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.; Black GC; Centre for Genomic Medicine, St. Mary's Hospital, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.; Toomes C; Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, UK.; Inglehearn CF; Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, UK.; Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Bax N; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Klaver CC; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.; Thiadens AA; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.; Murisier F; Fertas Andrology Laboratory, Lausanne, Switzerland.; Schorderet DF; Institute for Research in Ophtalmology, University of Lausanne and Ecole Polytechnique Federale de Lausanne, Switzerland.; Ali M; Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, UK.; Cremers FP; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.; Andréasson S; Department of Ophthalmology, Lund University, Lund, Sweden.; Munier FL; Jules Gonin Eye Hospital, Lausanne, Switzerland.; Rivolta C; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Al-Amri A; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, United Kingdom.; School of Biomedical Sciences, University of Leeds, United Kingdom.; National Genetic Centre, Directorate General of Royal Hospital, Ministry of Health, Muscat, Oman.; Saegh AA; Genetic and Developmental Medicine Clinic, Genetics Department, Sultan Qaboos University Hospital, Muscat, Oman.; Al-Mamari W; Developmental Pediatric Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman.; El-Asrag ME; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, United Kingdom.; Department of Zoology, Faculty of Science, Benha University, Benha, Egypt.; Ivorra JL; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, United Kingdom.; School of Biomedical Sciences, University of Leeds, United Kingdom.; Cardno AG; Academic Unit of Psychiatry and Behavioural Sciences, Leeds Institute of Health Sciences, University of Leeds, United Kingdom.; Inglehearn CF; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, United Kingdom.; Clapcote SJ; School of Biomedical Sciences, University of Leeds, United Kingdom.; Ali M; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, United Kingdom.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Al-Amri AH; Section of Ophthalmology & Neuroscience, Leeds Institute of Medical Research at St. James's, University of Leeds, United Kingdom; School of Biomedical Sciences, University of Leeds, United Kingdom; National Genetic Centre, Directorate General of Royal Hospital, Ministry of Health, Muscat, Oman.; Al Saegh A; Genetic & Developmental Medicine Clinic, Genetics Department, Sultan Qaboos University Hospital, Muscat, Oman.; Al-Mamari W; Developmental Pediatric Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman.; El-Asrag ME; Section of Ophthalmology & Neuroscience, Leeds Institute of Medical Research at St. James's, University of Leeds, United Kingdom; Department of Zoology, Faculty of Science, Benha University, Benha, Egypt.; Al-Kindi MN; Biochemistry Department, Sultan Qaboos University Hospital, Muscat, Oman.; Al Khabouri M; Department of Ear, Nose & Throat, Al Nahdha Hospital, Ministry of Health, Muscat, Oman.; Al Wardy N; Biochemistry Department, Sultan Qaboos University Hospital, Muscat, Oman.; Al Lamki K; Biochemistry Department, Sultan Qaboos University Hospital, Muscat, Oman.; Gabr A; Developmental Pediatric Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman.; Idris A; Developmental Pediatric Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman.; Inglehearn CF; Section of Ophthalmology & Neuroscience, Leeds Institute of Medical Research at St. James's, University of Leeds, United Kingdom.; Clapcote SJ; School of Biomedical Sciences, University of Leeds, United Kingdom.; Ali M; Section of Ophthalmology & Neuroscience, Leeds Institute of Medical Research at St. James's, University of Leeds, United Kingdom. Electronic address: m.ali@leeds.ac.uk.

Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

Abdelhamed ZA; Divison of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, LS9 7TF, Leeds, UK.; Division of Human Genetics, Cincinnati Children's Hospital, 3333 Burnet Avenue, Cincinnati, OH, 45229-3039, USA.; Abdelmottaleb DI; Divison of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, LS9 7TF, Leeds, UK.; Department of Zoology, Faculty of Science, Benha University, Benha, Egypt.; El-Asrag ME; Divison of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, LS9 7TF, Leeds, UK.; Department of Zoology, Faculty of Science, Benha University, Benha, Egypt.; Natarajan S; Divison of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, LS9 7TF, Leeds, UK.; Wheway G; Human Development and Health, Faculty of Medicine, University of Southampton, SO16 6YD, Southampton, UK.; Inglehearn CF; Divison of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, LS9 7TF, Leeds, UK.; Toomes C; Divison of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, LS9 7TF, Leeds, UK.; Johnson CA; Divison of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, LS9 7TF, Leeds, UK. c.johnson@leeds.ac.uk.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Khan KN; University College London Institute of Ophthalmology, London, United Kingdom 2Inherited Eye Disease Service, Moorfields Eye Hospital, London, United Kingdom 3Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St. James's University Hospital, Leeds, United Kingdom 4Department of Ophthalmology, St. James's University Hospital, Leeds, United Kingdom.; El-Asrag ME; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St. James's University Hospital, Leeds, United Kingdom 5Department of Zoology, Faculty of Science, Benha University, Benha, Egypt.; Ku CA; Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, United States.; Holder GE; University College London Institute of Ophthalmology, London, United Kingdom 2Inherited Eye Disease Service, Moorfields Eye Hospital, London, United Kingdom 7Department of Electrophysiology, Moorfields Eye Hospital, London, United Kingdom.; McKibbin M; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St. James's University Hospital, Leeds, United Kingdom 4Department of Ophthalmology, St. James's University Hospital, Leeds, United Kingdom.; Arno G; University College London Institute of Ophthalmology, London, United Kingdom.; Poulter JA; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St. James's University Hospital, Leeds, United Kingdom.; Carss K; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom 9Department of Haematology, University of Cambridge, Cambridge, United Kingdom.; Bommireddy T; Department of Ophthalmology, St. James's University Hospital, Leeds, United Kingdom.; Bagheri S; Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland, United States.; Bakall B; Associated Retina Consultants, Phoenix, Arizona, United States 12University of Arizona, College of Medicine, Phoenix, Arizona, United States.; Scholl HP; Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland, United States.; Raymond FL; National Institute for Health Research BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom 13Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.; Toomes C; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St. James's University Hospital, Leeds, United Kingdom.; Inglehearn CF; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St. James's University Hospital, Leeds, United Kingdom.; Pennesi ME; Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, United States.; Moore AT; University College London Institute of Ophthalmology, London, United Kingdom 2Inherited Eye Disease Service, Moorfields Eye Hospital, London, United Kingdom 14Department of Ophthalmology, University of California-San Francisco School of Medicine, San Francisco, California, United States.; Michaelides M; University College London Institute of Ophthalmology, London, United Kingdom 2Inherited Eye Disease Service, Moorfields Eye Hospital, London, United Kingdom.; Webster AR; University College London Institute of Ophthalmology, London, United Kingdom 2Inherited Eye Disease Service, Moorfields Eye Hospital, London, United Kingdom.; Ali M; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, St. James's University Hospital, Leeds, United Kingdom.

Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE

Sergouniotis PI; UCL Institute of Ophthalmology, London, United Kingdom 2Manchester Royal Eye Hospital, Manchester, United Kingdom 3Centre for Ophthalmology & Vision Sciences, Institute of Human Development, University of Manchester, Manchester, United Kingdom.; McKibbin M; Department of Ophthalmology, St. James's University Hospital, Leeds, United Kingdom.; Robson AG; UCL Institute of Ophthalmology, London, United Kingdom 5Moorfields Eye Hospital, London, United Kingdom.; Bolz HJ; Institute of Human Genetics, University Hospital Cologne, Cologne, Germany 7Bioscientia Center for Human Genetics, Ingelheim, Germany.; De Baere E; Centre for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.; Müller PL; Department of Ophthalmology, University of Bonn, Bonn, Germany.; Heller R; Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.; El-Asrag ME; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, United Kingdom 11Department of Zoology, Benha University, Benha, Egypt.; Van Schil K; Centre for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium.; Plagnol V; UCL Genetics Institute, London, United Kingdom.; Toomes C; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, United Kingdom.; Ali M; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, United Kingdom.; Holder GE; UCL Institute of Ophthalmology, London, United Kingdom 5Moorfields Eye Hospital, London, United Kingdom.; Charbel Issa P; Department of Ophthalmology, University of Bonn, Bonn, Germany.; Leroy BP; Centre for Medical Genetics, Ghent University and Ghent University Hospital, Ghent, Belgium 13Department of Ophthalmology, Ghent University and Ghent University Hospital, Ghent, Belgium 14Division of Ophthalmology and Centre for Cellular and Molecular The.; Inglehearn CF; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, Leeds, United Kingdom.; Webster AR; UCL Institute of Ophthalmology, London, United Kingdom 5Moorfields Eye Hospital, London, United Kingdom.

Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE