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Abdalla, Y |
Ahmed, M |
Almagren, B |
Arshad, M |
Ashraf, T |
Bayer, S |
Bhat, L |
Bonnemaijer, P |
Bourne, R |
Bradshaw, J |
Carter, P |
Ceroni, F |
Chua, S |
Clark, R |
Dunn, M |
Ennis, S |
Evans, M |
Fan, Q |
Fasham, J |
Fliege, J |
Gazdagh, G |
Gharahkhani, P |
Goverdhan, S |
Gummer, S |
Hogg, H |
Keeling, E |
Khan, S |
Khawaja, A |
Kolaczkowski, T |
Kruper, J |
Lee, H |
Lee, R |
Li, L |
Lin, S |
Lloyd, I |
Lynn, S |
Macdonald, S |
Macken, W |
Madjedi, K |
Mourgela, A |
Nagy, E |
Norman, C |
O'Gorman, L |
Osborne, D |
Paterson, E |
Petzold, A |
Pozarickij, A |
Pringle, A |
Proudlock, F |
Rajesh, A |
Ratnayaka, J |
Reijnders, M |
Rennie, K |
Rufai, S |
Salman, A |
Salter, C |
Sanchez-Bretano Sanchez, A |
Sanchez-Bretano, A |
Scott, J |
Self, J |
Sergouniotis, P |
Shakil, M |
Shalaby, A |
Solebo, A |
Stuart, K |
Tchuisseu-Kwangoua, L |
Tyers, A |
Warwick, A |
Williams, C |
Williamson, K |
Zhang, B |
Zhou, YAbdalla, Y
Ahmed, M
Mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis -
Mustafa Y. Ahmed,
Aisha Al-Khayat,
Fathiya Al-Murshedi,
Amna Al-Futaisi,
Barry A. Chioza,
J. Pedro Fernandez-Murray,
Jay E. Self,
Claire G. Salter,
Gaurav V. Harlalka,
Lettie E. Rawlins,
Sana Al-Zuhaibi,
Faisal Al-Azri,
Fatma Al-Rashdi,
Amaury Cazenave-Gassiot,
Marcus R. Wenk,
Fatema Al-Salmi,
Michael A. Patton,
David L. Silver,
Emma L. Baple,
Christopher R. McMaster and
Andrew H. Crosby
Type: Article
| 2017
Almagren, B
Arshad, M
Mutations in TYR and OCA2 associated with oculocutaneous albinism in Pakistani families -
Muhammad Waqar Arshad,
Gaurav V. Harlalka,
Siying Lin,
Ilaria D'Atri,
Sarmad Mehmood,
Muhammad Shakil,
Muhammad Jawad Hassan,
Barry A. Chioza,
Jay E. Self,
Sarah Ennis,
Luke O'Gorman,
Chelsea Norman,
Tahir Aman,
Shaheer Sabz Ali,
Haiba Kaul,
Emma L. Baple,
Andrew H. Crosby,
Muhammad Ikram Ullah and
Muhammad Imran Shabbir
Type: Article
| 2018
Ashraf, T
Bayer, S
Bhat, L
Bonnemaijer, P
Bourne, R
Bradshaw, J
Type: Article
| 2024
| Item availability restricted.
Carter, P
Type: Conference or Workshop Item
| 2023
Type: Article
| 2023
| Item not available on this server.
Ceroni, F
Chua, S
Cohort profile: Design and methods in the eye and vision consortium of UK Biobank -
Sharon Yu Lin Chua,
Dhanes Thomas,
Naomi Allen,
Andrew Lotery,
Parul Desai,
Praveen Patel,
Zaynah Muthy,
Cathie Sudlow,
Tunde Peto,
Peng Tee Khaw,
Paul J. Foster,
Yalin Zheng,
Tariq Aslam,
Sarah A. Barman,
Jenny H. Barrett,
Paul Bishop,
Peter Blows,
Catey Bunce,
Roxana O. Carare,
Usha Chakravarthy,
Michelle Chan,
David P. Crabb,
Philippa M. Cumberland,
Alexander Day,
Bal Dhillon,
Andrew D. Dick,
Cathy Egan,
Sarah Ennis,
Marcus Fruttiger,
John E.J. Gallacher,
David F. Garway-Heath,
Jane Gibson,
Dan Gore,
Jeremy A. Guggenheim,
Chris J. Hammond,
Alison Hardcastle,
Simon P. Harding,
Ruth E. Hogg,
Pirro Hysi,
Pearse A. Keane,
Anthony P. Khawaja,
Gerassimos Lascaratos,
Tom MacGillivray,
Sarah Mackie,
Keith Martin,
Michelle McGaughey,
Bernadette McGuinness,
Gareth J. McKay,
James E. Morgan and
Jay Self
Type: Review
| 2019
Clark, R
The potential and value of objective eye tracking in the ophthalmology clinic -
Rosie Clark,
James Blundell,
Matt Dunn,
Jonathan Erichsen,
Mario Giardini,
Irene Gottlob,
Chris Harris,
Helena Lee,
Lee Mcilreavy,
Andrew Olsen,
James Self,
Valldeflors Vinuela-Navarro,
Jonathan Waddington,
J. Margaret Woodhouse,
Iain D. Gilchrist and
Cathy Williams
Type: Article
| 2019
Dunn, M
Ennis, S
Type: Article
| 2010
| Item not available on this server.
Evans, M
Fan, Q
Fasham, J
Delineating the expanding phenotype associated with SCAPER gene mutation -
James Fasham,
Gavin Arno,
Siying Lin,
Mingchu Xu,
Keren J Carss,
Sarah Huli,
Amelia Lane,
Anthony Robson,
Olivia Wenger,
James Self,
Gaurav V. Harlalka,
Claire Salter,
Lyn Schema,
Timothy Moss,
Michael E Cheetham,
Anthony Moore,
F Lucy Raymond,
Rui Chen,
Andrew Webster and
Andrew Crosby
Type: Article
| 2019
Fliege, J
Type: Conference or Workshop Item
| 2025
| IEEE
| Item not available on this server.
Gazdagh, G
Gharahkhani, P
Type: Article
| 2021
| Item not available on this server.
Goverdhan, S
Type: Article
| 2005
| Item not available on this server.
Type: Article
| 2005
| Item not available on this server.
Gummer, S
Hogg, H
Keeling, E
Type: Meeting abstract
| 2023
| Item not available on this server.
Type: Conference or Workshop Item
| 2023
| Item not available on this server.
Khan, S
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan -
Shazia Khan,
Siying Lin,
Gaurav V. Harlalka,
Asmat Ullah,
Khadim Shah,
Sumbul Khalid,
Sarmad Mehmood,
Muhammad Jawad Hassan,
Raja Wasim Ahmad,
James Self,
Andrew H. Crosby,
Emma L. Baple and
Asma Gul
Type: Article
| 2019
| Item not available on this server.
Khawaja, A
Type: Article
| 2019
| Item not available on this server.
Kolaczkowski, T
Kruper, J
Lee, H
Type: Conference or Workshop Item
| 2019
| Item not available on this server.
Type: Meeting abstract
| 2017
| Item not available on this server.
Lee, R
Type: Article
| 2024
| Item not available on this server.
Li, L
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa -
Lin Li,
Xiaodong Jiao,
Ilaria D’Atri,
Fumihito Ono,
Ralph Nelson,
Chi Chao Chan,
Naoki Nakaya,
Zhiwei Ma,
Yan Ma,
Xiaoying Cai,
Longhua Zhang,
Siying Lin,
Abdul Hameed,
Barry A. Chioza,
Holly Hardy,
Gavin Arno,
Sarah Hull,
Muhammad Imran Khan,
James Fasham,
Gaurav V. Harlalka,
Michel Michaelides,
Anthony T. Moore,
Zeynep Hande Coban Akdemir,
Shalini Jhangiani,
James R. Lupski,
Frans P.M. Cremers,
Raheel Qamar,
Ahmed Salman,
John Chilton,
Jay Self,
Radha Ayyagari,
Firoz Kabir,
Muhammad Asif Naeem,
Muhammad Ali,
Javed Akram,
Paul A. Sieving,
Sheikh Riazuddin,
Emma L. Baple,
S. Amer Riazuddin,
Andrew H. Crosby and
J. Fielding Hejtmancik
Type: Article
| 2018
Type: Dataset
| 2019
| DRYAD
| Item not available on this server.
Lin, S
Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B) -
Siying Lin,
Aida Sanchez-Bretano,
Joseph S Leslie,
Katie B Williams,
Helena Lee,
Nicholas Thomas,
Jonathan L Callaway,
James Deline,
J. Arjuna Ratnayaka,
Diana Baralle,
Melanie A Schmitt,
Chelsea S Norman,
Sheri Hammond,
V. Gaurav Harlalka,
Sarah Ennis,
Harold E. Cross,
Olivia Wenger,
Andrew H. Crosby,
Emma L. Baple and
James Self
Type: Article
| 2022
Lloyd, I
Update on pediatric cataract surgery -
I. Christopher Lloyd,
M. Edward Wilson,
Rupal H. Trivedi,
Susmito Biswas,
Jane L. Ashworth,
Elspeth Green,
Jay Self,
Kelly Voltz,
Cyril Archambault,
Thaddeus S. McClatchey,
Scott K. McClatchey,
Joanne Randeree,
Jessica Gowing,
Sophie Cowen,
Lucy Barker,
Ramesh Kekunnaya and
Scott R. Lambert
Type: Review
| 2025
Lynn, S
A longitudinal study of the 5xFAD mouse retina delineates Amyloid beta (Ab)-mediated retinal pathology from age-related changes -
Savannah A. Lynn,
Sudha Priya Soundara Pandi,
Aida Sanchez‑Bretano,
Anna Marie Muir,
Lidia Parker,
David S. Chatelet,
Tutte Newall,
Jennifer A. Scott,
Eloise Keeling,
Neil R. Smyth,
Jay E. Self,
Andrew J. Lotery,
Helena Lee and
J. Arjuna Ratnayaka
Type: Article
| 2025
Macdonald, S
Type: Meeting abstract
| 2024
| Item not available on this server.
Macken, W
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly -
William Macken,
Annie Godwin,
Gabrielle Wheway,
Karen Stals,
Liliya Nazlamova,
Sian Ellard,
Ahmed Alfares,
Taghrid Aloraini,
Lamia AlSubaie,
Majid Alfadhel,
Sulaiman Alajaji,
Htoo Wai,
James Self,
Andrew Douglas,
Alexander Kao,
Matthew Guille and
Diana Baralle
Type: Article
| 2021
Madjedi, K
Mourgela, A
Type: Conference or Workshop Item
| 2019
| Item not available on this server.
Nagy, E
Norman, C
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B) -
Chelsea S. Norman,
Luke O'Gorman,
Jane Gibson,
Reuben J. Pengelly,
Diana Baralle,
J. Arjuna Ratnayaka,
Helen Griffiths,
Matthew Rose-Zerilli,
Megan Ranger,
David Bunyan,
Helena Lee,
Rhiannon Page,
Tutte Newall,
Fatima Shawkat,
Christopher Mattocks,
Daniel Ward,
Sarah Ennis and
Jay E. Self
Type: Article
| 2017
Type: Meeting abstract
| 2018
| Item not available on this server.
O'Gorman, L
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping -
Luke O'Gorman,
Chelsea Norman,
Luke Michaels,
Tutte Newall,
Andrew H. Crosby,
Christopher Mattocks,
Angela Cree,
Andrew Lotery,
Emma L. Baple,
Arjuna Ratnayaka,
Diana Baralle,
Helena Lee,
Daniel Osborne,
Fatima Shawkat,
Jane Gibson,
Sarah Ennis and
Jay E. Self
Type: Article
| 2019
Osborne, D
Paterson, E
Petzold, A
Type: Article
| 2021
| Item not available on this server.
Pozarickij, A
Pringle, A
Type: Book Section
| 2000
| Springer
| Item not available on this server.
Type: Article
| 2000
| Item not available on this server.
Proudlock, F
Rajesh, A
Machine learning derived retinal pigment score from ophthalmic imaging shows ethnicity is not biology -
Anand E. Rajesh,
Abraham Olvera-Barrios,
Alasdair N. Warwick,
Yue Wu,
Kelsey V. Stuart,
Mahantesh I. Biradar,
Chuin Ying Ung,
Anthony P. Khawaja,
Robert Luben,
Paul J. Foster,
Charles R. Cleland,
William U. Makupa,
Alastair K. Denniston,
Matthew J. Burton,
Andrew Bastawrous,
Pearse A. Keane,
Mark A. Chia,
Angus W. Turner,
Cecilia S. Lee,
Adnan Tufail,
Aaron Y. Lee and
Catherine Egan
Type: Article
| 2025
Ratnayaka, J
Studies in the 5xFAD mouse retina reveal chronic Amyloid-beta mediated effects, providing new insights into complex retinopathies -
J. Arjuna Ratnayaka,
Savannah A. Lynn,
Sudha Priya Soundara Pandi,
Aida Sanchez-Bretano,
Anna Marie Muir,
Lidia Parker,
David S. Chatelet,
Tutte Newall,
Eloise Keeling,
Neil R. Smyth,
James E. Self,
Helena Lee,
Andrew J. Lotery and
Jenny A. Scott
Type: Meeting abstract
| 2025
| Item not available on this server.
Reijnders, M
PURA Syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature -
Margot R.F. Reijnders,
Robert Janowski,
Mohsan Alvi,
James Self,
Ton J. van Essen,
Maaike Vreeburg,
Rob P.W. Rouhl,
Servi J.C. Stevens,
Alexander P.A. Stegmann,
Jolanda Schieving,
Rolph Pfundt,
Katinke van Dijk,
Eric Smeets,
Connie T.R.M. Stumpel,
Levinus A. Bok,
Jan Maarten Cobben,
Marc Engelen,
Sahar Mansour,
Margot Whiteford,
Kate E. Chandler,
Sofia Douzgou,
Nicola S. Cooper,
Ene-Choo Tan,
Roger Foo,
Angeline H.M. Lai,
Julia Rankin,
Andrew Green,
Tuula Lonnqvist,
Pirjo Isohanni,
Sheeley Williams,
Ilene Ruhoy,
Karen S. Carvalho,
James J. Dowling,
Dorit L. Lev,
Katalin Sterbova,
Petra Lassuthova,
Jana Neupauerova,
Jeff L. Waugh,
Sotirios Keros,
Jull Clayton-Smith,
Sarah F. Smithson,
Han G. Brunner,
Ceciel van Hoeckel,
Mel Anderson,
Virginia E. Clowes,
Victoria Mok Siu,
Paulo Selber,
Richard J. Leventer,
Christoffer Nellaker,
Dierk Niessing,
David Hunt and
Diana Baralle
Type: Article
| 2018
Rennie, K
Rufai, S
Salman, A
Type: Article
| 2020
| Item availability restricted.
Salter, C
Type: Article
| 2016
| Item availability restricted.
Sanchez-Bretano Sanchez, A
Type: Conference or Workshop Item
| 2019
| Item not available on this server.
Sanchez-Bretano, A
Human equivalent doses of l-DOPA rescues retinal morphology and visual function in a murine model of albinism -
Aida Sanchez-Bretano,
Eloise Keeling,
Jennifer A. Scott,
Savannah A. Lynn,
Sudha Priya Soundara-Pandi,
Sarah L. Macdonald,
Tutte Newall,
Helen Griffiths,
Andrew J. Lotery,
J. Arjuna Ratnayaka,
Jay E. Self and
Helena Lee
Type: Article
| 2023
Type: Meeting abstract
| 2019
| Item not available on this server.
Scott, J
Type: Conference or Workshop Item
| 2019
| Item not available on this server.
Self, J
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2010
| Item not available on this server.
Type: Article
| 2009
| Item not available on this server.
Type: Letter
| 2020
| Item not available on this server.
Type: Conference or Workshop Item
| 2008
| Item not available on this server.
Cataract management in children: a review of the literature and current practice across five large UK centres -
J. E. Self,
R. Taylor,
A. L. Solebo,
S. Biswas,
M. Parulekar,
A. Dev Borman,
J. Ashworth,
R. McClenaghan,
J. Abbott,
E. O’Flynn,
D. Hildebrand and
I. C. Lloyd
Type: Review
| 2020
Type: Article
| 2006
| Item not available on this server.
Type: Other
| 2017
| Item not available on this server.
Type: Book Section
| 2017
| Springer Cham
| Item not available on this server.
Type: Article
| 2018
| Item not available on this server.
Type: Conference or Workshop Item
| 2020
| Item not available on this server.
Type: Book Section
| 2022
| Academic Press
| Item not available on this server.
Type: Book Section
| 2022
| Elsevier
| Item not available on this server.
The lens -
James Self and
Christopher Lloyd
Type: Book Section
| 2017
| Elsevier
| Item not available on this server.
Type: Article
| 2006
| Item not available on this server.
Type: Book Section
| 2012
| Nystagmus Network
| Item not available on this server.
Type: Monograph
| 2020
| Royal College of Ophthalmologists
| Item not available on this server.
Type: Conference or Workshop Item
| 2020
Type: Other
| 2018
| Item not available on this server.
Type: Article
| 2007
| Item not available on this server.
Type: Article
| 2006
| Item not available on this server.
Type: Conference or Workshop Item
| 2015
| Item not available on this server.
Type: Letter
| 2019
| Item not available on this server.
The lens -
Jay Self and
Christopher Lloyd
Type: Book Section
| 2013
| Elsevier
| Item not available on this server.
Type: Conference or Workshop Item
| 2012
| Nystagmus Network
| Item not available on this server.
Sergouniotis, P
Shakil, M
Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families -
Muhammad Shakil,
Gaurav V. Harlalka,
Shamshad Ali,
Siying Lin,
Ilaria D'Atri,
Shabbir Hussain,
Abdul Nasir,
Muhammad Aiman Shahzad,
Muhammad Ikram Ullah,
Jay E. Self,
Emma L. Baple,
Andrew H. Crosby and
Saqib Mahmood
Type: Article
| 2019
Shalaby, A
Solebo, A
Stuart, K
The association of urinary sodium excretion with glaucoma and related traits in a large United Kingdom population -
Kelsey V. Stuart,
Mahantesh I. Biradar,
Robert N. Luben,
Neeraj Dhaun,
Siegfried K. Wagner,
Alasdair N. Warwick,
Zihan Sun,
Kian M. Madjedi,
Louis R. Pasquale,
Janey L. Wiggs,
Jae H. Kang,
Marleen A.H. Lentjes,
Hugues Aschard,
Jihye Kim,
Paul J. Foster and
Anthony P. Khawaja
Type: Article
| 2024
Tchuisseu-Kwangoua, L
Tyers, A
Type: Article
| 2005
| Item not available on this server.
Warwick, A
UK Biobank retinal imaging grading: methodology, baseline characteristics and findings for common ocular diseases -
Alasdair N. Warwick,
Katie Curran,
Barbra Hamill,
Kelsey Stuart,
Anthony P. Khawaja,
Paul J. Foster,
Andrew J. Lotery,
Michael Quinn,
Savita Madhusudhan,
Konstantinos Balaskas and
Tunde Peto
Type: Article
| 2023
Williams, C
Williamson, K
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction -
Kathleen A. Williamson,
H. Nikki Hall,
Liusaidh J. Owen,
Benjamin J. Livesey,
Isabel M. Hanson,
G. G.W. Adams,
Simon Bodek,
Patrick Calvas,
Bruce Castle,
Michael Clarke,
Alexander T. Deng,
Patrick Edery,
Richard Fisher,
Gabriele Gillessen-Kaesbach,
Elise Heon,
Jane Hurst,
Dragana Josifova,
Birgit Lorenz,
Shane McKee,
Francoise Meire,
Anthony T. Moore,
Michael Parker,
Charlotte M. Reiff,
Jay Self,
Edward S. Tobias,
Joke B.G.M. Verheij,
Marjolaine Willems,
Denise Williams,
Veronica van Heyningen,
Joseph A. Marsh and
David R. FitzPatrick
Type: Article
| 2019
Zhang, B
Type: Article
| 2019
| Item not available on this server.
Zhou, Y
This list was generated on Mon Jan 12 11:45:48 2026 GMT.