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Panagiotis Sergouniotis
Panagiotis Sergouniotis
Senior Lecturer & Honorary Consultant, University of Manchester, Manchester, UK
Verified email at manchester.ac.uk - Homepage
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Year
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
6872019
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
6232017
The human phenotype ontology in 2017
S Kohler, NA Vasilevsky, M Engelstad, E Foster, J McMurry, S Ayme, ...
3502017
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
2522015
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
2132009
Retinal structure and function in achromatopsia: Implications for gene therapy
V Sundaram, C Wilde, J Aboshiha, J Cowing, C Han, CS Langlo, ...
Ophthalmology, 2013
1872013
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
1712011
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
1622016
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
1502016
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
1322016
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
1282011
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
1222013
Retinal structure, function, and molecular pathologic features in gyrate atrophy
PI Sergouniotis, AE Davidson, E Lenassi, SR Devery, AT Moore, ...
Ophthalmology, 2011
1152011
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
107*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
1042010
Phenotypic variability in RDH5 retinopathy (fundus albipunctatus)
PI Sergouniotis, EH Sohn, Z Li, VA McBain, GA Wright, AT Moore, ...
Ophthalmology, 2011
1012011
Detailed phenotypic and genotypic characterization of Bietti crystalline dystrophy
S Halford, G Liew, DS Mackay, PI Sergouniotis, R Holt, S Broadgate, ...
Ophthalmology, 2014
1002014
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
912013
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
902017
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
882014
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