Panagiotis Sergouniotis
Panagiotis Sergouniotis
NIHR Clinical Lecturer in Ophthalmology, University of Manchester, Manchester, UK
Verified email at - Homepage
Cited by
Cited by
The human phenotype ontology in 2017
S Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ...
Nucleic acids research 45 (D1), D865-D876, 2017
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
S Köhler, L Carmody, N Vasilevsky, JOB Jacobsen, D Danis, JP Gourdine, ...
Nucleic acids research 47 (D1), D1018-D1027, 2019
The human phenotype ontology in 2017
S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ...
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans
Z Li, PI Sergouniotis, M Michaelides, DS Mackay, GA Wright, S Devery, ...
The American Journal of Human Genetics 85 (5), 711-719, 2009
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ...
Nature cell biology 17 (8), 1074-1087, 2015
Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause Leber congenital amaurosis
PI Sergouniotis, AE Davidson, DS Mackay, Z Li, X Yang, V Plagnol, ...
The American Journal of Human Genetics 89 (1), 183-190, 2011
Retinal structure and function in achromatopsia: Implications for gene therapy
V Sundaram, C Wilde, J Aboshiha, J Cowing, C Han, CS Langlo, ...
Ophthalmology, 2013
Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1
RH Henderson, DS Mackay, Z Li, P Moradi, PI Sergouniotis, ...
British Journal of Ophthalmology 95 (6), 811-817, 2011
Novel mutations in MERTK associated with childhood onset rod-cone dystrophy
DS Mackay, RH Henderson, PI Sergouniotis, Z Li, P Moradi, GE Holder, ...
Molecular vision 16, 369, 2010
Molecular findings from 537 individuals with inherited retinal disease
JM Ellingford, S Barton, S Bhaskar, J O'Sullivan, SG Williams, JA Lamb, ...
Journal of medical genetics 53 (11), 761-767, 2016
Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function
K Fujinami, PI Sergouniotis, AE Davidson, G Wright, RK Chana, ...
American journal of ophthalmology 156 (3), 487-501. e1, 2013
Retinal structure, function, and molecular pathologic features in gyrate atrophy
PI Sergouniotis, AE Davidson, E Lenassi, SR Devery, AT Moore, ...
Ophthalmology, 2011
Mutations in REEP6 cause autosomal-recessive retinitis pigmentosa
G Arno, SA Agrawal, A Eblimit, J Bellingham, M Xu, F Wang, C Chakarova, ...
The American Journal of Human Genetics 99 (6), 1305-1315, 2016
Whole genome sequencing increases molecular diagnostic yield compared with current diagnostic testing for inherited retinal disease
JM Ellingford, S Barton, S Bhaskar, SG Williams, PI Sergouniotis, ...
Ophthalmology 123 (5), 1143-1150, 2016
Recessive mutations in TSPAN12 cause retinal dysplasia and severe Familial Exudative Vitreoretinopathy (FEVR)
JA Poulter, AE Davidson, M Ali, DF Gilmour, DA Parry, HA Mintz-Hittner, ...
Investigative ophthalmology & visual science 53 (6), 2873-2879, 2012
RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy
PI Sergouniotis, AE Davidson, DS Mackay, GA Wright, NH Waseem, ...
Human Mutation, 2012
Phenotypic variability in RDH5 retinopathy (fundus albipunctatus)
PI Sergouniotis, EH Sohn, Z Li, VA McBain, GA Wright, AT Moore, ...
Ophthalmology, 2011
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa
AE Davidson, N Schwarz, L Zelinger, G Stern-Schneider, A Shoemark, ...
The American Journal of Human Genetics, 2013
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy
PI Sergouniotis, C Chakarova, C Murphy, M Becker, E Lenassi, G Arno, ...
The American Journal of Human Genetics 94 (5), 760-769, 2014
Detailed phenotypic and genotypic characterization of Bietti crystalline dystrophy
S Halford, G Liew, DS Mackay, PI Sergouniotis, R Holt, S Broadgate, ...
Ophthalmology, 2014
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