Panagiotis Sergouniotis
Panagiotis Sergouniotis
Senior Lecturer & Honorary Consultant, University of Manchester, Manchester, UK
Verified email at - Homepage
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Cited by
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 Köhler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Aymé, ...
Nucleic acids research 45 (D1), D865-D876, 2017
The human phenotype ontology in 2017
S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ...
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 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
Retinal structure and function in achromatopsia: Implications for gene therapy
V Sundaram, C Wilde, J Aboshiha, J Cowing, C Han, CS Langlo, ...
Ophthalmology, 2013
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
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
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
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
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
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
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
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
Phenotypic variability in RDH5 retinopathy (fundus albipunctatus)
PI Sergouniotis, EH Sohn, Z Li, VA McBain, GA Wright, AT Moore, ...
Ophthalmology, 2011
Detailed phenotypic and genotypic characterization of Bietti crystalline dystrophy
S Halford, G Liew, DS Mackay, PI Sergouniotis, R Holt, S Broadgate, ...
Ophthalmology, 2014
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism
JA Poulter, M Al-Araimi, I Conte, MM van Genderen, E Sheridan, IM Carr, ...
The American Journal of Human Genetics, 2013
Validation of copy number variation analysis for next-generation sequencing diagnostics
JM Ellingford, C Campbell, S Barton, S Bhaskar, S Gupta, RL Taylor, ...
European Journal of Human Genetics 25 (6), 719-724, 2017
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
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