Graeme C. Black
1957–2025 年に発表
- 123
- 論文数
- 19,988
- 被引用数
- 76
- h 指数
- 119
- i10 指数
被引用数
引用元
国・地域
機関
- University College London1.2%
- Harvard University1%
- Inserm0.8%
- University of Oxford0.6%
- University of Manchester0.6%
- University of Cambridge0.5%
- その他95.3%
分野
- Biochemistry, Genetics and Molecular Biology56.5%
- Medicine32.8%
- Neuroscience3%
- Immunology and Microbiology2.6%
- Computer Science2.5%
- Engineering0.5%
- その他2.1%
トピック
- Retinal Development and Disorders4.8%
- Genomics and Rare Diseases3.3%
- Retinal Diseases and Treatments3.1%
- Wnt/β-catenin signaling in development and cancer2.9%
- Retinal Imaging and Analysis1.9%
- Bone Metabolism and Diseases1.7%
- その他82.3%
共著者
- Panagiotis I. Sergouniotis19
- Jill Urquhart17
- Andrew R. Webster16
- Jill Clayton‐Smith16
- Forbes Manson15
- Jamie M. Ellingford14
- James O’Sullivan13
- Sanjeev S. Bhaskar13
- Simon Ramsden13
- Tariq Aslam12
- Gavin Arno11
- Naomi E. Allen11
- Sarah Barman11
- William G. Newman11
- Denize Atan10
- Paul Bishop10
- Paul J. Foster10
- Rahat Perveen10
- Andrew Lotery9
- Kate Chandler9
- Roxana O. Carare9
- Sarah B. Daly9
- Anthony T. Moore8
- Michel Michaelides8
全論文
- A foundation model for generalizable disease detection from retinal images
著者: Yukun Zhou, Mark A. Chia, Siegfried K. Wagner, Murat Seçkin Ayhan, Dominic J. Williamson, Robbert Struyven, Timing Liu, Moucheng Xu, Mateo G. Lozano, Peter Woodward-Court, Yuka Kihara, Naomi E. Allen, John Gallacher, Thomas J. Littlejohns, Tariq Aslam, Paul Bishop, Graeme C. Black, Panagiotis I. Sergouniotis, Denize Atan, Andrew D. Dick, Cathy Williams, Sarah Barman, Jenny H. Barrett, Sarah Mackie, Tasanee Braithwaite, Roxana O. Carare, Sarah Ennis, Jane Whitney Gibson, Andrew Lotery, Jay Self, Usha Chakravarthy, Ruth Hogg, Euan Paterson, Jayne V. Woodside, Tünde Pető, Gareth J. McKay, Bernadette McGuinness, Paul J. Foster, Konstantinos Balaskas, Anthony P. Khawaja, Nikolas Pontikos, Jugnoo S. Rahi, Gerassimos Lascaratos, Praveen J. Patel, Michelle Chan, Sharon Chua, Alexander Day, Parul Desai, Cathy Egan, Marcus Fruttiger, David F. Garway‐Heath, Alison J. Hardcastle, Peng T. Khaw, Tony Moore, Sobha Sivaprasad, Nicholas G. Strouthidis, Dhanes Thomas, Adnan Tufail, Ananth C. Viswanathan, Bal Dhillon, Tom MacGillivray, Cathie Sudlow, Véronique Vitart, Alex S. F. Doney, Emanuele Trucco, Jeremy A. Guggeinheim, James E. Morgan, Christopher J. Hammond, Katie Williams, Pirro G. Hysi, Simon Harding, Yalin Zheng, Robert Luben, Philip J. Luthert, Zihan Sun, Martin McKibbin, Eoin O’Sullivan, Richard A. Oram, Mike Weedon, Christopher G. Owen, Alicja R. Rudnicka, Naveed Sattar, David Steel, Irene Stratton, Robyn J. Tapp, Max Yates, Axel Petzold, Savita Madhusudhan, André Altmann, Aaron Lee, Eric J. Topol, Alastair K. Denniston, Daniel C. Alexander, Pearse A. Keane - Nature 2023 被引用: 925
- Global birth prevalence of congenital heart defects 1970–2017: updated systematic review and meta-analysis of 260 studies
著者: Yingjuan Liu, Sen Chen, Liesl Zühlke, Graeme C. Black, Mun‐Kit Choy, Ningxiu Li, Bernard Keavney - International Journal of Epidemiology 2019 被引用: 1,400
- Whole-genome sequencing of patients with rare diseases in a national health system
著者: Ernest Turro, William J. Astle, Karyn Mégy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis‐Juan, Mattia Frontini, Chantal Thys, Jonathan Stephens, Rutendo Mapeta, Oliver S. Burren, Kate Downes, Matthias Haimel, Salih Tuna, Sri V. V. Deevi, Timothy J. Aitman, David Bennett, Paul Calleja, Keren Carss, Mark J. Caulfield, Patrick F. Chinnery, Peter Dixon, Daniel P. Gale, Roger James, Ania Koziell, Michael A. Laffan, Adam P. Levine, Eamonn R. Maher, Hugh S. Markus, Joannella Morales, Nicholas W. Morrell, Andrew Mumford, Elizabeth Ormondroyd, Stuart Rankin, Augusto Rendon, Sylvia Richardson, Irene Roberts, Noémi Roy, Moin A. Saleem, Kenneth G. C. Smith, Hannah Stark, Rhea Tan, Andreas C. Themistocleous, Adrian J. Thrasher, Hugh Watkins, Andrew R. Webster, Martin R. Wilkins, Catherine Williamson, James Whitworth, Sean Humphray, David R. Bentley, NIHR BioResource for the 100,000 Genomes Project, Stephen Abbs, Lara Abulhoul, Julian Adlard, Munaza Ahmed, Timothy J. Aitman, Hana Alachkar, David Allsup, J. P. Almeida, Philip Ancliff, Richard Antrobus, Ruth Armstrong, Gavin Arno, Sofie Ashford, William J. Astle, Anthony Attwood, Paul Aurora, Christian Babbs, Chiara Bacchelli, Tamam Bakchoul, Siddharth Banka, Tadbir K. Bariana, Julian Barwell, Joana Batista, Helen Baxendale, Phil Beales, David Bennett, David R. Bentley, Agnieszka Bierżyńska, Tina Biss, Maria Bitner‐Glindzicz, Graeme C. Black, Marta Bleda, Iulia Blesneac, Detlef Böckenhauer, Harm Jan Bogaard, Christian Bourne, Sara Boyce, John R. Bradley, Eugene Bragin, Gerome Breen, Paul Brennan, Carole Brewer, Matthew A. Brown, Andrew C. Browning, Michael J. Browning, Rachel Buchan ほか 412 名 - Nature, Nat. 2020 被引用: 582
- Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR
著者: Jasmina Cehajic‐Kapetanovic, Kanmin Xue, Cristina Martínez-Fernández de la Cámara, Anika Nanda, Alexandra Davies, Laura J. Taylor, Anna Paola Salvetti, M. Dominik Fischer, James Aylward, Alun R. Barnard, Jasleen K. Jolly, Edmond Luo, Brandon J. Lujan, Tuyen Ong, Aniz Girach, Graeme C. Black, Ninel Z. Gregori, Janet L. Davis, Potyra R. Rosa, Andrew Lotery, Byron L. Lam, Paulo Stanga, Robert E. MacLaren - Nature Medicine 2020 被引用: 363
- Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis
著者: Axel Petzold, Laura J. Balcer, Peter A. Calabresi, Fiona Costello, Teresa C. Frohman, Elliot M. Frohman, Elena H. Martínez‐Lapiscina, Ari Green, Randy H. Kardon, Olivier Outteryck, Friedemann Paul, Sven Schippling, P. Vermersch, Pablo Villoslada, Lisanne J. Balk, Orhan Aktaş, Philipp Albrecht, Jane Ashworth, Nasrin Asgari, Laura J. Balcer, Lisanne J. Balk, Graeme C. Black, Daniel Boehringer, Raed Behbehani, Leslie Benson, Robert Bermel, Jacqueline Bernard, Alexander U. Brandt, Jodie Burton, Peter A. Calabresi, Jonathan Calkwood, Christian Cordano, Fiona Costello, Ardith Courtney, Andrés Cruz-Herranz, Ricarda Diem, Avril Daly, Hélène Dollfus, Christina Fasser, Carsten Finke, Jette Lautrup Frederiksen, Elliot M. Frohman, Teresa C. Frohman, Elena García‐Martín, Inés González‐Suarez, Gorm Pihl-Jensen, Jennifer Graves, Ari Green, Joachim Havla, Bernhard Hemmer, Su‐Chun Huang, Jaime Imitola, Hong Jiang, David Keegan, Eric Kildebeck, Alexander Klistorner, Benjamin Knier, Scott Kolbe, Thomas Korn, Bart P. Leroy, Letizia Leocani, Dorothée Leroux, Netta Levin, Petra Lišková, Birgit Lorenz, Jana Lízrová Preiningerová, Elena H. Martínez‐Lapiscina, Janine Mikolajczak, Xavier Montalbán, Mark J. Morrow, Rachel Nolan, Timm Oberwahrenbrock, Frederike Cosima Oertel, Celia Oreja‐Guevara, Benjamin Osborne, Olivier Outteryck, Athina Papadopoulou, Friedemann Paul, Axel Petzold, Marius Ringelstein, Shiv Saidha, Bernardo Sánchez‐Dalmau, Jaume Sastre‐Garriga, Sven Schippling, Robert K. Shin, Neil Shuey, Kerstin Soelberg, Ahmed Toosy, R. Martinez Torres, Ángela Vidal‐Jordana, Pablo Villoslada, Amy Waldman, Owen White, Ann Ming Yeh, Sui H. Wong, Hanna Zimmermann - The Lancet Neurology 2017 被引用: 568
- Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial
著者: Robert E. MacLaren, Markus Groppe, Alun R. Barnard, Charles L. Cottriall, Tanya Tolmachova, Len Seymour, K. Reed Clark, Matthew J. During, Frans P.M. Cremers, Graeme C. Black, Andrew Lotery, Susan M. Downes, Andrew R. Webster, Miguel C. Seabra - The Lancet 2014 被引用: 781
- LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
著者: Yaoqin Gong, Roger B. Slee, Naomi Fukai, Georges Rawadi, Sergio Roman‐Roman, Anthony M. Reginato, Hongwei Wang, Tim Cundy, F. H. Glorieux, Dorit Lev, Margaret Zacharin, Konrad Oexle, J. R. Marcelino, W. Suwairi, Shauna Heeger, G. Sabatakos, Suneel Apte, William N. Adkins, Jeremy Allgrove, Mine Arslan‐Kirchner, Jennifer Batch, Peter Beighton, Graeme C. Black, Richard G. Boles, Laurence M. Boon, C Borrone, HG Brunner, Georges F. Carle, Bruno Dallapiccola, Anne De Paepe, B. Floege, M. L. Halfhide, Bryan Hall, Raoul C. M. Hennekam, Tatsuo Hirose, Anneke Jans, Harald Jüppner, Chong Ae Kim, Kim M. Keppler‐Noreuil, A. Kohlschuetter, Didier Lacombe, Marie Lambert, Emmanuelle Lemyre, Tom G.W. Letteboer, Leena Peltonen, Raj Ramesar, Marta Romanengo, Hannu Somer, Elisabeth Steichen‐Gersdorf, B Steinmann, Beth Sullivan, Andrea Superti‐Furga, Walter Swoboda, M. J. van den Boogaard, Wim Van Hul, Miikka Vikkula, Marcela Votruba, Bernhard Zabel, Teresa García, Roland Baron, Bjørn R. Olsen, Matthew L. Warman - Cell 2001 被引用: 2,248
- Germline selection shapes human mitochondrial DNA diversity
著者: Wei Wei, Salih Tuna, Michael J. Keogh, Katherine R. Smith, Katherine R. Smith, Timothy J. Aitman, Phil L. Beales, David Bennett, Daniel P. Gale, Maria A. K. Bitner-Glindzicz, Graeme C. Black, Paul Brennan, Perry Elliott, Frances Flinter, R. Andrés Floto, Henry Houlden, Melita Irving, Ania Koziell, Eamonn R. Maher, Hugh S. Markus, Nicholas W. Morrell, William G. Newman, Irene Roberts, John A. Sayer, Kenneth G. C. Smith, Kenneth G. C. Smith, Jenny C. Taylor, Hugh Watkins, Andrew R. Webster, Andrew O.M. Wilkie, Catherine Williamson, NIHR BioResource–Rare Diseases, 100,000 Genomes Project–Rare Diseases Pilot, Sofie Ashford, Christopher J. Penkett, Kathleen Stirrups, Augusto Rendon, Willem H. Ouwehand, John R. Bradley, F. Lucy Raymond, Mark Caulfield, Ernest Turro, Patrick F. Chinnery, Aarnoud Huissoon, Abigail Crisp-Hihn, Adam Shaw, Adam J. Mead, Adam P. Levine, Adrian J. Thrasher, Agnieszka Bierżyńska, Ahamad Hassan, Ajith Kumar, Alba Sanchis‐Juan, Alex Richter, Allan Lawrie, Amy Frary, Andrea H. Németh, Andrea Olschewski, Andreas C. Themistocleous, Andrew C. Browning, Andrew Mumford, Andrew M. Schaefer, Andrew Marshall, Andrew O.M. Wilkie, Andrew Peacock, Andrew R. Harper, Andrew R. Webster, Andrew S.C. Rice, Angela Pyle, Ania Koziell, Anna M. Drazyk, Anne M. Kelly, Annette Wagner, Anthony Attwood, Anthony De Soyza, Anthony M. Vandersteen, Anthony T. Moore, Anton Vonk Noordegraaf, Anupama Rao, Archana Herwadkar, Arjan C. Houweling, Arjune Sen, Augusto Rendon, Austen Worth, Barbara Girerd, Bella Madan, Brian T. Wilson, Carmen Bugarin Diz, Carmen Treacy, Carole Brewer, Carolyn Campbell, Carolyn M. Millar, Catherine Roughley, Catherine Titterton, Catherine Williamson, Cecilia Compton, Cesare Danesino, Chantal Thys, Charaka Hadinnapola, Charu Deshpande ほか 305 名 - Science 2019 被引用: 251
- Retinal Optical Coherence Tomography Features Associated With Incident and Prevalent Parkinson Disease
著者: Siegfried K. Wagner, David Romero-Bascones, Mario Cortina‐Borja, Dominic J. Williamson, Robbert Struyven, Yukun Zhou, Salil Patel, Rimona S. Weil, Chrystalina A. Antoniades, Eric J. Topol, Edward Korot, Paul J. Foster, Konstantinos Balaskas, Unai Ayala, Maitane Barrenechea, Iñigo Gabilondo, Anthony H.V. Schapira, Anthony P. Khawaja, Praveen J. Patel, Jugnoo S. Rahi, Alastair K. Denniston, Axel Petzold, Pearse A. Keane, Naomi E. Allen, Tariq Aslam, Denize Atan, Sarah Barman, Jenny H Barrett, Paul Bishop, Graeme C. Black, Tasanee Braithwaite, Roxana O. Carare, Usha Chakravarthy, Michelle Chan, Sharon Chua, Alexander Day, Parul Desai, Bal Dhillon, Andrew D. Dick, Alex S. F. Doney, Cathy Egan, Sarah Ennis, Marcus Fruttiger, John EJ Gallacher, David F. Garway‐Heath, Jane Whitney Gibson, Jeremy A. Guggeinheim, Christopher J. Hammond, Alison J. Hardcastle, Simon Harding, Ruth Hogg, Pirro G. Hysi, Peng T. Khaw, Gerassimos Lascaratos, Thomas J. Littlejohns, Andrew Lotery, Robert Luben, Philip J. Luthert, Tom MacGillivray, Sarah Mackie, Bernadette McGuiness, Gareth J. McKay, Marin McKibbin, Tony Moore, James E Morgan, Eoin O’Sullivan, Richard A. Oram, Christopher G. Owen, Euan Paterson, Tünde Pető, Alicja R. Rudnicka, Naveed Sattar, Jay Self, Panagiotis I. Sergouniotis, Sobha Sivaprasad, David Steel, Irene Stratton, Nicholas G. Strouthidis, Cathie Sudlow, Zihan Sun, Robyn J. Tapp, Dhanes Thomas, Emanuele Trucco, Adnan Tufail, Véronique Vitart, Ananth C. Viswanathan, Mike Weedon, Cathy Williams, Katie Williams, Jayne V. Woodside, MaxM. Yates, Jennifer Yip, Yalin Zheng - Neurology 2023 被引用: 86
- Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease
著者: Emma M. Jenkinson, Atteeq U. Rehman, Tom Walsh, Jill Clayton‐Smith, Kwanghyuk Lee, Robert J. Morell, Meghan C. Drummond, Shaheen N. Khan, Muhammad Asif Naeem, Bushra Rauf, Neil Billington, Julie M. Schultz, Jill Urquhart, Ming K. Lee, Andrew Berry, Neil A. Hanley, Sarju Mehta, Deirdre Cilliers, Peter Clayton, Helen Kingston, Miriam J. Smith, Thomas T. Warner, Graeme C. Black, Dorothy Trump, J.R. Davis, Wasim Ahmad, Suzanne M. Leal, Sheikh Riazuddin, Mary‐Claire King, Thomas B. Friedman, William G. Newman - The American Journal of Human Genetics 2013 被引用: 245
- Changes in Retinal Sensitivity Associated With Cotoretigene Toliparvovec in X-Linked Retinitis Pigmentosa With RPGR Gene Variations
著者: Lenore von Krusenstiern, Jiajun Liu, Eileen Liao, James A. Gow, Guo Chen, Tuyen Ong, Andrew Lotery, Assad Jalil, Byron L. Lam, Robert E. MacLaren, XIRIUS Part 1 Study GroupXOLARIS Study Group, Imran H. Yusuf, Jasmina Cehajic‐Kapetanovic, Amandeep S. Josan, Cristina Martínez-Fernández de la Cámara, Salwah Rehman, Laura J. Taylor, Jasleen K. Jolly, Kanmin Xue, Anika Nanda, Kirti Jasani, Moreno Menghini, Thomas M. W. Buckley, Anna Paola Salvetti, Suresh Thulasidharan, Miguel Kurc, Samir Khandhadia, Karla Orsine Murtas Dias, Abeir Baltmr, Nakul Mandal, Georgios Tsokolas, Paulo Stanga, Tsveta Ivanova, Muhannd El-Faouri, Sherif Shaarawy, Graeme C. Black, Janet L. Davis, Ninel Z. Gregori, Carlos E. Mendoza‐Santiesteban, Potyra R. Rosa, Kevin G. Evans, Rob Koenekoop, Dominik Fischer, Frank G. Holz, Kamron N. Khan, Jason Horowitz, Mark E. Pennesi, David G. Birch, Michael B. Gorin, Kim Stepien, Jacque Duncan, Tim Stout, Benjamin Bakall, Paul S. Bernstein, E.‐M. Sankila, Carel B. Hoyng, Camiel J.F. Boon, Isabelle Meunier - JAMA Ophthalmology 2023 被引用: 62
- Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
著者: Suzanne E. de Bruijn, Alessia Fiorentino, Daniele Ottaviani, Stephanie Fanucchi, Uirá Souto Melo, Julio C. Corral-Serrano, Timo Mulders, Michalis Georgiou, Carlo Rivolta, Nikolas Pontikos, Gavin Arno, Lisa Roberts, Jacquie Greenberg, Sílvia Albert, Christian Gilissen, Marco Aben, George Rebello, Simon Mead, F. Lucy Raymond, Jordi Corominas, Claire E. L. Smith, Hannie Kremer, Susan M. Downes, Graeme C. Black, Andrew R. Webster, Chris F. Inglehearn, L. Ingeborgh van den Born, Robert K. Koenekoop, Michel Michaelides, Raj Ramesar, Carel B. Hoyng, Stefan Mundlos, Musa M. Mhlanga, Frans P.M. Cremers, Michael E. Cheetham, Susanne Roosing, Alison J. Hardcastle - The American Journal of Human Genetics 2020 被引用: 122
- Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy
著者: Claudia B. Catarino, Bettina von Livonius, Claudia Priglinger, Rudrani Banik, Selma Matloob, Madhura A. Tamhankar, L. Castillo, Christoph Friedburg, Christopher Halfpenny, John A. Lincoln, Ghislaine L. Traber, Gölge Acaroğlu, Graeme C. Black, Carlos Doncel, Clare L. Fraser, J Jakubaszko, Klara Landau, Stefan Langenegger, Francisco J. Muñoz‐Negrete, Nancy J. Newman, Joanna Poulton, Elisabetta Scoppettuolo, Prem S. Subramanian, Ahmed Toosy, Mariona Vidal, Andrea L. Vincent, Marcela Votruba, Marcin Żarowski, Adam Zermansky, Felice Lob, Günther Rudolph, Oskars Mikazans, Magda Joana Silva, Xavier Llòria, Günther Metz, Thomas Klopstock - Journal of Neuro-Ophthalmology 2020 被引用: 114
- The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
著者: Sebastian Köhler, Sandra C. Doelken, Chris Mungall, Sebastian Bauer, Helen V. Firth, Isabelle Bailleul‐Forestier, Graeme C. Black, Danielle L. Brown, Michael Brudno, Jennifer Campbell, David Fitzpatrick, Janan T. Eppig, Andrew P. Jackson, Kathleen Freson, Marta Gîrdea, Ingo Helbig, Jane A. Hurst, Johanna Jähn, Laird G. Jackson, Anne M. Kelly, David H. Ledbetter, Sahar Mansour, Christa Lese Martin, Celia Moss, Andrew Mumford, Willem H. Ouwehand, Soo-Mi Park, Erin Rooney Riggs, Richard H. Scott, Sanjay M. Sisodiya, Steven Van Vooren, Ronald J. Wapner, Andrew O.M. Wilkie, Caroline F. Wright, Anneke T. Vulto‐van Silfhout, Nicole de Leeuw, Bert B.A. de Vries, Nicole L. Washingthon, Cynthia L. Smith, Monte Westerfield, Paul N. Schofield, Barbara J. Ruef, Georgios V. Gkoutos, Melissa Haendel, Damian Smedley, Suzanna Lewis, Peter N. Robinson - Nucleic Acids Research, Nucleic Acids Res. 2013 被引用: 837
- Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot
著者: Donna J. Page, Matthieu J. Miossec, Simon G. Williams, Richard M. Monaghan, Elisavet Fotiou, Heather J. Cordell, Louise Sutcliffe, Ana Töpf, Mathieu Bourgey, Guillaume Bourque, Robert Eveleigh, Sally L. Dunwoodie, David S. Winlaw, Shoumo Bhattacharya, Jeroen Breckpot, Koenraad Devriendt, Marc Gewillig, J. David Brook, Kerry Setchfield, Frances Bu’Lock, John O’Sullivan, Graham Stuart, Connie R. Bezzina, Barbara J.M. Mulder, Alex V. Postma, James R. Bentham, Martín Baron, Sanjeev S. Bhaskar, Graeme C. Black, William G. Newman, Kathryn E. Hentges, G.M. Lathrop, Mauro Santibanez‐Koref, Bernard Keavney - Circulation Research 2019 被引用: 198
- Genetic testing and diagnosis of inherited retinal diseases
著者: Byron L. Lam, Bart P. Leroy, Graeme C. Black, Tuyen Ong, Dan Yoon, Karmen M Trzupek - Orphanet Journal of Rare Diseases 2021 被引用: 75
- Protein Kinase Cδ Deficiency Causes Mendelian Systemic Lupus Erythematosus With B Cell‐Defective Apoptosis and Hyperproliferation
著者: Alexandre Bélot, Paul R. Kasher, Eleanor W. Trotter, Anne‐Perrine Foray, Anne‐Laure Debaud, Gillian Rice, Marcin Szynkiewicz, M. T. Zabot, Isabelle Rouvet, Sanjeev S. Bhaskar, Sarah B. Daly, Jonathan E. Dickerson, Joséphine Mayer, James O’Sullivan, Laurent Juillard, Jill Urquhart, Shameem Fawdar, Anna A. Marusiak, Natalie L. Stephenson, Bohdan Waszkowycz, Michael W. Beresford, Leslie G. Biesecker, Graeme C. Black, Céline René, Jean‐François Eliaou, Nicole Fabien, Bruno Ranchin, Pierre Cochat, Patrick M. Gaffney, Flore Rozenberg, Pierre Lebon, Christophe Malcus, Yanick J. Crow, John Brognard, Nathalie Bonnefoy - Arthritis & Rheumatism 2013 被引用: 198
- Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia
著者: Kanmin Xue, Jasleen K. Jolly, Alun R. Barnard, A Rudenko, Anna Paola Salvetti, Maria I. Patrício, Thomas L. Edwards, Markus Groppe, Harry O. Orlans, Tanya Tolmachova, Graeme C. Black, Andrew R. Webster, Andrew Lotery, Graham E. Holder, Susan M. Downes, Miguel C. Seabra, Robert E. MacLaren - Nature Medicine 2018 被引用: 186
- Molecular findings from 537 individuals with inherited retinal disease
著者: Jamie M. Ellingford, Stephanie Barton, Sanjeev S. Bhaskar, James O’Sullivan, Simon G. Williams, Janine A. Lamb, Binay Panda, Panagiotis I. Sergouniotis, Rachel Gillespie, Stephen P. Daiger, Georgina Hall, Theodora Gale, I. Christopher Lloyd, Paul N Bishop, Simon Ramsden, Graeme C. Black - Journal of Medical Genetics 2016 被引用: 168
- Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
著者: Beverley Anderson, Paul R. Kasher, Joséphine Mayer, Marcin Szynkiewicz, Emma M. Jenkinson, Sanjeev S. Bhaskar, Jill Urquhart, Sarah B. Daly, Jonathan E. Dickerson, James O’Sullivan, Elisabeth Oppliger Leibundgut, Joanne Muter, Ghada M H Abdel-Salem, Riyana Babul‐Hirji, Peter Baxter, Andrea Berger, Luisa Bonafé, Janice E Brunstom-Hernandez, Johannes Buckard, David Chitayat, W.K. Chong, Duccio Maria Cordelli, Patrick Ferreira, Joël Fluss, Ewan Forrest, Emilio Franzonı, Caterina Garone, Simon Hammans, Gunnar Houge, Imelda Hughes, Sébastien Jacquemont, Pierre‐Yves Jeannet, Rosalind J Jefferson, Ram Kumar, G Kutschke, Staffan Lundberg, Charles Marques Lourenço, Ramesh Mehta, Sakkubai Naidu, Ken K. Nischal, Luís Nunes, Katrin Õunap, Michel Philippart, Prab Prabhakar, Sarah Risen, Raphael Schiffmann, Calvin Soh, John B.P. Stephenson, Helen Stewart, Jon Stone, John Tolmie, Marjo S. van der Knaap, José Pedro Vieira, Catheline Vilain, Emma Wakeling, Vanessa Wermenbol, Andrea Whitney, Simon C. Lovell, Stefan Meyer, John H. Livingston, Gabriela M. Baerlocher, Graeme C. Black, Gillian Rice, Yanick J. Crow - Nature Genetics 2012 被引用: 291
- UK Biobank retinal imaging grading: methodology, baseline characteristics and findings for common ocular diseases
著者: Alasdair Warwick, Katie Curran, Barbra Hamill, Kelsey V. Stuart, Anthony P. Khawaja, Paul J. Foster, Andrew Lotery, Michael Quinn, Savita Madhusudhan, Konstantinos Balaskas, Tünde Pető, Naomi E. Allen, Tariq Aslam, D. Atan, Sarah Barman, Jessica Barrett, J. Barrett, Graeme C. Black, Tasanee Braithwaite, Roxana O. Carare, Usha Chakravarthy, Michelle Chan, Sharon Chua, Alexander Day, Parul Desai, Baljean Dhillon, Andrew D. Dick, Alex S. F. Doney, Catherine Egan, Sarah Ennis, Paul J. Foster, Marcus Fruttiger, J. Gallacher, David F. Garway‐Heath, Jane Whitney Gibson, Jeremy A. Guggenheim, Christopher J. Hammond, Alison J. Hardcastle, Simon Harding, Ruth Hogg, Pirro G. Hysi, Pearse A. Keane, Peng T. Khaw, Anthony P. Khawaja, Gerassimos Lascaratos, Thomas J. Littlejohns, Andrew Lotery, Philip J. Luthert, Tom MacGillivray, Sarah Mackie, Bernadette McGuinness, Gareth J. McKay, Martin McKibbin, T. Moore, John Morgan, R. Oram, E. O'Sullivan, Christopher G. Owen, Prem N. Patel, Euan Paterson, Tünde Pető, Axel Petzold, Nikolas Pontikos, Jugnoo S. Rahi, Alicja R. Rudnicka, N. Sattar, Jay Self, P. Sergouniotis, Sobha Sivaprasad, David Steel, Irene Stratton, Nicholas G. Strouthidis, Cathie Sudlow, Zihan Sun, Robyn J. Tapp, Dhanes Thomas, Emanuele Trucco, Adnan Tufail, A. C. Viswanathan, V. Vitart, M. Weedon, Cathy Williams, C. H. Williams, Jayne V. Woodside, Max Yates, Jennifer Yip, Yingfeng Zheng, Jennifer Yip, Yingfeng Zheng - Eye 2022 被引用: 35
- Mast cell infiltration of the choroid and protease release are early events in age-related macular degeneration associated with genetic risk at both chromosomes 1q32 and 10q26
著者: Selina McHarg, Laura Booth, Rahat Perveen, Isabel Riba Garcia, Nicole Brace, Nadhim Bayatti, Panagiotis I. Sergouniotis, Alexander M. Phillips, Anthony J. Day, Graeme C. Black, Simon J. Clark, Andrew W. Dowsey, Richard D. Unwin, Paul N. Bishop - National Academy of Sciences, Proceedings of the National Academy of Sciences 2022 被引用: 29
- Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature
著者: Tracy A. Briggs, Gillian Rice, Sarah B. Daly, Jill Urquhart, Hannah Gornall, Brigitte Bader‐Meunier, Kannan Baskar, Shankar Baskar, Véronique Baudouin, Michael W. Beresford, Graeme C. Black, Rebecca J. Dearman, Francis de Zegher, Emily Foster, Camille Françès, Alison R. Hayman, Emma Hilton, C Job-Deslandre, Muralidhar L. Kulkarni, Martine Le Merrer, Agnès Linglart, Simon C. Lovell, Kathrin Maurer, Lucile Musset, Vincent Navarro, Capucine Pïcard, Anne Puel, Frédéric Rieux‐Laucat, Chaim M. Roifman, Sabine Scholl‐Bürgi, Nigel Smith, Marcin Szynkiewicz, Alice Wiedeman, Carine Wouters, Leo Zeef, Jean‐Laurent Casanova, Keith B. Elkon, Anthony J. Janckila, Pierre Lebon, Yanick J. Crow - Nature Genetics 2011 被引用: 259
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