Panagiotis I Sergouniotis

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 28

Top Venues

European journal of human genetics : EJHG

Genes

eLife

Orphanet journal of rare diseases

University Of Manchester

University College London (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University Of Manchester Aug 02 2017

United Kingdom

NIHR Clinical Lecturer in Ophthalmology

Royal Bolton Hospital Feb 01 2017 - Aug 01 2017

United Kingdom

Ophthalmology Registrar

Manchester Royal Eye Hospital Feb 05 2014 - Jan 31 2017

United Kingdom

Academic Clinical Fellow in Ophthalmology

Addenbrooke's Hospital

United Kingdom

Ophthalmology Registrar

UCL Institute of Ophthalmology & Moorfields Eye Hospital

United Kingdom

PhD Student & Clinical Research Fellow in Ophthalmic Genetics

Education History

University College London

United Kingdom

PHD

Publications

Nadya S Andhika, Susmito Biswas, Claire Hardcastle, David J Green, Simon C Ramsden, Ewan Birney, Graeme C M Black, Panagiotis I Sergouniotis
Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene. European journal of human genetics : EJHG 32 (8) (2024)
Nadya S Andhika, Susmito Biswas, Claire Hardcastle, David J Green, Simon C Ramsden, Ewan Birney, Graeme C M Black, Panagiotis I Sergouniotis
Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene. European journal of human genetics : EJHG 32 (8) (2024)
Nadya S Andhika, Susmito Biswas, Claire Hardcastle, David J Green, Simon C Ramsden, Ewan Birney, Graeme C M Black, Panagiotis I Sergouniotis
Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene. European journal of human genetics : EJHG (2024)
Nadya S Andhika, Susmito Biswas, Claire Hardcastle, David J Green, Simon C Ramsden, Ewan Birney, Graeme C M Black, Panagiotis I Sergouniotis
Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene. European journal of human genetics : EJHG 32 (8) (2024)
Nadya S Andhika, Susmito Biswas, Claire Hardcastle, David J Green, Simon C Ramsden, Ewan Birney, Graeme C M Black, Panagiotis I Sergouniotis
Using computational approaches to enhance the interpretation of missense variants in the PAX6 gene. European journal of human genetics : EJHG 32 (8) (2024)
Panagiotis I Sergouniotis, Tomas Fitzgerald, Ewan Birney
From genetic variation to precision medicine. Cambridge prisms. Precision medicine 1 (2023)
Eva Lenassi, Ana Carvalho, Anja Thormann, Liam Abrahams, Gavin Arno, Tracy Fletcher, Claire Hardcastle, Javier Lopez, Sarah E Hunt, Patrick Short, Panagiotis I Sergouniotis, Michel Michaelides, Andrew Webster, Fiona Cunningham, Simon C Ramsden, Dalia Kasperaviciute, David R Fitzpatrick, null null, Graeme C Black, Jamie M Ellingford
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders. Journal of medical genetics (2023)
Thomas Henry Julian, Johnathan Cooper-Knock, Stuart MacGregor, Hui Guo, Tariq Aslam, Eleanor Sanderson, Graeme C M Black, Panagiotis I Sergouniotis
Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration. eLife 12 (2023)
Panagiotis I Sergouniotis, Vincent Michaud, Eulalie Lasseaux, Christopher Campbell, Claudio Plaisant, Sophie Javerzat, Ewan Birney, Simon C Ramsden, Graeme C Black, Benoit Arveiler
A multilayered approach to the analysis of genetic data from individuals with suspected albinism. Journal of medical genetics (2023)
Mohammud Musleh, Adam Bull, Emma Linton, Jingshu Liu, Sarah Waller, Claire Hardcastle, Jill Clayton-Smith, Vinod Sharma, Graeme C Black, Susmito Biswas, Jane L Ashworth, Panagiotis I Sergouniotis
The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis. Genes 14 (4) (2023)
Panagiotis I Sergouniotis, Tomas Fitzgerald, Ewan Birney
From genetic variation to precision medicine. Cambridge prisms. Precision medicine 1 (2023)
Thomas Henry Julian, Johnathan Cooper-Knock, Stuart MacGregor, Hui Guo, Tariq Aslam, Eleanor Sanderson, Graeme C M Black, Panagiotis I Sergouniotis
Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration. eLife 12 (2023)
Eleanor Palmer, Karolina M Stepien, Christopher Campbell, Stephanie Barton, Christos Iosifidis, Arunabha Ghosh, Alexander Broomfield, Alison Woodall, Gisela Wilcox, Panagiotis I Sergouniotis, Graeme C Black
Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy. Orphanet journal of rare diseases 18 (1) (2023)
Mohammud Musleh, Adam Bull, Emma Linton, Jingshu Liu, Sarah Waller, Claire Hardcastle, Jill Clayton-Smith, Vinod Sharma, Graeme C Black, Susmito Biswas, Jane L Ashworth, Panagiotis I Sergouniotis
The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis. Genes 14 (4) (2023)
Mohammud Musleh, Adam Bull, Emma Linton, Jingshu Liu, Sarah Waller, Claire Hardcastle, Jill Clayton-Smith, Vinod Sharma, Graeme C Black, Susmito Biswas, Jane L Ashworth, Panagiotis I Sergouniotis
The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis. Genes 14 (4) (2023)
Eleanor Palmer, Karolina M Stepien, Christopher Campbell, Stephanie Barton, Christos Iosifidis, Arunabha Ghosh, Alexander Broomfield, Alison Woodall, Gisela Wilcox, Panagiotis I Sergouniotis, Graeme C Black
Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy. Orphanet journal of rare diseases 18 (1) (2023)
Thomas Henry Julian, Johnathan Cooper-Knock, Stuart MacGregor, Hui Guo, Tariq Aslam, Eleanor Sanderson, Graeme C M Black, Panagiotis I Sergouniotis
Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration. eLife 12 (2023)
Mohammud Musleh, Adam Bull, Emma Linton, Jingshu Liu, Sarah Waller, Claire Hardcastle, Jill Clayton-Smith, Vinod Sharma, Graeme C Black, Susmito Biswas, Jane L Ashworth, Panagiotis I Sergouniotis
The Role of Genetic Testing in Children Requiring Surgery for Ectopia Lentis. Genes 14 (4) (2023)
Thomas Henry Julian, Johnathan Cooper-Knock, Stuart MacGregor, Hui Guo, Tariq Aslam, Eleanor Sanderson, Graeme C M Black, Panagiotis I Sergouniotis
Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration. eLife 12 (2023)
Thomas Henry Julian, Johnathan Cooper-Knock, Stuart MacGregor, Hui Guo, Tariq Aslam, Eleanor Sanderson, Graeme C M Black, Panagiotis I Sergouniotis
Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration. eLife 12 (2023)
Vincent Michaud, Eulalie Lasseaux, David J Green, Dave T Gerrard, Claudio Plaisant, null null, Tomas W Fitzgerald, Ewan Birney, Benoit Arveiler, Graeme C M Black, Panagiotis I Sergouniotis
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism. Nature communications 13 (1) (2022)
Christos Iosifidis, Jingshu Liu, Theodora Gale, Jamie M Ellingford, Christopher Campbell, Stuart Ingram, Kate Chandler, Neil R A Parry, Graeme C Black, Panagiotis I Sergouniotis
Clinical and genetic findings in TRPM1-related congenital stationary night blindness. Acta ophthalmologica 100 (6) (2022)
David J Green, Shalaw R Sallah, Jamie M Ellingford, Simon C Lovell, Panagiotis I Sergouniotis
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders. Genes 11 (2) (2020)
Valentina Cipriani, Nikolas Pontikos, Gavin Arno, Panagiotis I Sergouniotis, Eva Lenassi, Penpitcha Thawong, Daniel Danis, Michel Michaelides, Andrew R Webster, Anthony T Moore, Peter Nick Robinson, Julius O B Jacobsen, Damian Smedley
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data. Genes 11 (4) (2020)
Shalaw Rassul Sallah, Panagiotis I Sergouniotis, Stephanie Barton, Simon Ramsden, Rachel L Taylor, Amro Safadi, Mitra Kabir, Jamie M Ellingford, Nick Lench, Simon C Lovell, Graeme C M Black
Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar. European journal of human genetics : EJHG 28 (9) (2020)
Eva Lenassi, Jill Clayton-Smith, Sofia Douzgou, Simon C Ramsden, Stuart Ingram, Georgina Hall, Claire L Hardcastle, Tracy A Fletcher, Rachel L Taylor, Jamie M Ellingford, William D Newman, Cecilia Fenerty, Vinod Sharma, I Chris Lloyd, Susmito Biswas, Jane L Ashworth, Graeme C Black, Panagiotis I Sergouniotis
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders. Genetics in medicine : official journal of the American College of Medical Genetics 22 (4) (2019)
Patrick Campbell, Jamie M Ellingford, Neil R A Parry, Tracy Fletcher, Simon C Ramsden, Theodora Gale, Georgina Hall, Katherine Smith, Dalia Kasperaviciute, Ellen Thomas, I Chris Lloyd, Sofia Douzgou, Jill Clayton-Smith, Susmito Biswas, Jane L Ashworth, Graeme C M Black, Panagiotis I Sergouniotis
Clinical and genetic variability in children with partial albinism. Scientific reports 9 (1) (2019)
Panagiotis I Sergouniotis, Emmanuel Maxime, Dorothée Leroux, Annie Olry, Rachel Thompson, Ana Rath, Peter N Robinson, Hélène Dollfus, null null
An ontological foundation for ocular phenotypes and rare eye diseases. Orphanet journal of rare diseases 14 (1) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Panagiotis I Sergouniotis