Graeme C. M. Black
AuthID: R-00G-HRK
1
TITLE: EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
AUTHORS: Lenassi, Eva; Carvalho, Ana; Thormann, Anja; Abrahams, Liam; Arno, Gavin; Fletcher, Tracy; Hardcastle, Claire; Lopez, Javier; Hunt, Sarah E.; Short, Patrick; Sergouniotis, Panagiotis, I; Michaelides, Michel; Webster, Andrew; Cunningham, Fiona; Ramsden, Simon C.; Kasperaviciute, Dalia; Fitzpatrick, David R.; Genomics England Res Consortium, Graeme C.; Black, Graeme C.; Ellingford, Jamie M.;
PUBLISHED: 2023, SOURCE: JOURNAL OF MEDICAL GENETICS
AUTHORS: Lenassi, Eva; Carvalho, Ana; Thormann, Anja; Abrahams, Liam; Arno, Gavin; Fletcher, Tracy; Hardcastle, Claire; Lopez, Javier; Hunt, Sarah E.; Short, Patrick; Sergouniotis, Panagiotis, I; Michaelides, Michel; Webster, Andrew; Cunningham, Fiona; Ramsden, Simon C.; Kasperaviciute, Dalia; Fitzpatrick, David R.; Genomics England Res Consortium, Graeme C.; Black, Graeme C.; Ellingford, Jamie M.;
PUBLISHED: 2023, SOURCE: JOURNAL OF MEDICAL GENETICS
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement Full Text
AUTHORS: Black, GC; Sergouniotis, P; Sodi, A; Leroy, BP; Van Cauwenbergh, C; Liskova, P; Gronskov, K; Klett, A; Kohl, S; Taurina, G; Sukys, M; Haer Wigman, L; Nowomiejska, K; Marques, JP; Leroux, D; Cremers, FPM; De Baere, E; Dollfus, H;
PUBLISHED: 2021, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 16, ISSUE: 1
AUTHORS: Black, GC; Sergouniotis, P; Sodi, A; Leroy, BP; Van Cauwenbergh, C; Liskova, P; Gronskov, K; Klett, A; Kohl, S; Taurina, G; Sukys, M; Haer Wigman, L; Nowomiejska, K; Marques, JP; Leroux, D; Cremers, FPM; De Baere, E; Dollfus, H;
PUBLISHED: 2021, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 16, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS3
TITLE: Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
AUTHORS: Suzanne E de Bruijn; Alessia Fiorentino; Daniele Ottaviani; Stephanie Fanucchi; Uira S Melo; Julio C Corral Serrano; Timo Mulders; Michalis Georgiou; Carlo Rivolta; Nikolas Pontikos; Gavin Arno; Lisa Roberts; Jacquie Greenberg; Silvia Albert; Christian Gilissen; Marco Aben; George Rebello; Simon Mead; Lucy L Raymond; Jordi Corominas; ...More
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 107, ISSUE: 5
AUTHORS: Suzanne E de Bruijn; Alessia Fiorentino; Daniele Ottaviani; Stephanie Fanucchi; Uira S Melo; Julio C Corral Serrano; Timo Mulders; Michalis Georgiou; Carlo Rivolta; Nikolas Pontikos; Gavin Arno; Lisa Roberts; Jacquie Greenberg; Silvia Albert; Christian Gilissen; Marco Aben; George Rebello; Simon Mead; Lucy L Raymond; Jordi Corominas; ...More
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 107, ISSUE: 5
INDEXED IN: Scopus WOS
Scopus WOS4
TITLE: An ontological foundation for ocular phenotypes and rare eye diseases Full Text
AUTHORS: Panagiotis I Sergouniotis; Emmanuel Maxime; Dorothee Leroux; Annie Olry; Rachel Thompson; Ana Rath; Peter N Robinson; Helene Dollfus; Jane L Ashworth; Isabelle Audo; Vilma Jurate Balciuniene; Eyal Banin; Graeme C Black; Daniel Boehringer; Camiel J F Boon; Dominique Bremond Gignac; Patrick Calvas; Guilherme Castela; Gislin Dagnelie; Helene Dollfus; ...More
PUBLISHED: 2019, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 14
AUTHORS: Panagiotis I Sergouniotis; Emmanuel Maxime; Dorothee Leroux; Annie Olry; Rachel Thompson; Ana Rath; Peter N Robinson; Helene Dollfus; Jane L Ashworth; Isabelle Audo; Vilma Jurate Balciuniene; Eyal Banin; Graeme C Black; Daniel Boehringer; Camiel J F Boon; Dominique Bremond Gignac; Patrick Calvas; Guilherme Castela; Gislin Dagnelie; Helene Dollfus; ...More
PUBLISHED: 2019, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 14
INDEXED IN: WOS
WOS5
TITLE: Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia
AUTHORS: Kanmin M Xue; Jasleen K Jolly; Alun R Barnard; Anna Rudenko; Anna P Salvetti; Maria I Patricio ; Thomas L Edwards; Markus Groppe; Harry O Orlans; Tanya Tolmachova; Graeme C Black; Andrew R Webster; Andrew J Lotery; Graham E Holder; Susan M Downes; Miguel C Seabra; Robert E MacLaren;
PUBLISHED: 2018, SOURCE: NATURE MEDICINE, VOLUME: 24, ISSUE: 10
AUTHORS: Kanmin M Xue; Jasleen K Jolly; Alun R Barnard; Anna Rudenko; Anna P Salvetti; Maria I Patricio ; Thomas L Edwards; Markus Groppe; Harry O Orlans; Tanya Tolmachova; Graeme C Black; Andrew R Webster; Andrew J Lotery; Graham E Holder; Susan M Downes; Miguel C Seabra; Robert E MacLaren;
PUBLISHED: 2018, SOURCE: NATURE MEDICINE, VOLUME: 24, ISSUE: 10
INDEXED IN: Scopus WOS
Scopus WOS6
TITLE: Clinical utility gene card for: Choroideremia Full Text
AUTHORS: Mariya L. Moosajee; Simon C Ramsden; Graeme C M Black; Miguel C Seabra; Andrew R Webster;
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 22, ISSUE: 4
AUTHORS: Mariya L. Moosajee; Simon C Ramsden; Graeme C M Black; Miguel C Seabra; Andrew R Webster;
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 22, ISSUE: 4
7
TITLE: Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial Full Text
AUTHORS: Robert E MacLaren; Markus Groppe; Alun R Barnard; Charles L Cottriall; Tanya Tolmachova; Len Seymour; Reed R Clark; Matthew J During; Frans P M Cremers; Graeme C M Black; Andrew J Lotery; Susan M Downes; Andrew R Webster; Miguel C Seabra;
PUBLISHED: 2014, SOURCE: LANCET, VOLUME: 383, ISSUE: 9923
AUTHORS: Robert E MacLaren; Markus Groppe; Alun R Barnard; Charles L Cottriall; Tanya Tolmachova; Len Seymour; Reed R Clark; Matthew J During; Frans P M Cremers; Graeme C M Black; Andrew J Lotery; Susan M Downes; Andrew R Webster; Miguel C Seabra;
PUBLISHED: 2014, SOURCE: LANCET, VOLUME: 383, ISSUE: 9923
8
TITLE: Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus Full Text
AUTHORS: Beverley H Anderson; Paul R Kasher; Josephine Mayer; Marcin Szynkiewicz; Emma M Jenkinson; Sanjeev S Bhaskar; Jill E 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 Bonafe; Janice E Brunstom Hernandez; Johannes A Buckard; David Chitayat; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 3
AUTHORS: Beverley H Anderson; Paul R Kasher; Josephine Mayer; Marcin Szynkiewicz; Emma M Jenkinson; Sanjeev S Bhaskar; Jill E 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 Bonafe; Janice E Brunstom Hernandez; Johannes A Buckard; David Chitayat; ...More
PUBLISHED: 2012, SOURCE: NATURE GENETICS, VOLUME: 44, ISSUE: 3
9
TITLE: Identification of mutations in CUL7 in 3-M syndrome Full Text
AUTHORS: Huber, C; Dias Santagata, D; Glaser, A; O'Sullivan, J; Brauner, R; Wu, K; Xu, XS; Pearce, K; Wang, R; Uzielli, MLG; Dagoneau, N; Chemaitilly, W; Superti Furga, A; Dos Santos, H; Megarbane, A; Morin, G; Gillessen Kaesbach, G; Hennekam, R; Van der Burgt, I; Black, GCM; ...More
PUBLISHED: 2005, SOURCE: NATURE GENETICS, VOLUME: 37, ISSUE: 10
AUTHORS: Huber, C; Dias Santagata, D; Glaser, A; O'Sullivan, J; Brauner, R; Wu, K; Xu, XS; Pearce, K; Wang, R; Uzielli, MLG; Dagoneau, N; Chemaitilly, W; Superti Furga, A; Dos Santos, H; Megarbane, A; Morin, G; Gillessen Kaesbach, G; Hennekam, R; Van der Burgt, I; Black, GCM; ...More
PUBLISHED: 2005, SOURCE: NATURE GENETICS, VOLUME: 37, ISSUE: 10
