Personal information

Emails & domains

Verified email domains

Websites & social links

The Pontikos Lab website
The Reading Centre website

Other IDs

Loop profile: 308858
Scopus Author ID: 37665820900
ResearcherID: U-3642-2018
ResearcherID: U-3642-2018

Keywords

bioinformatician, computer scientist, data scientist

Activities

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Employment (8)

UCL Institute of Ophthalmology, University College London: London, GB

2023-10-01 to present | Principal Research Fellow (Associate Professor)
Employment
Source: Self-asserted source
Nikolas Pontikos

Moorfields Eye Hospital: London, GB

2023-01-01 to present | Deputy Director, Data Science (Moorfields Ophthalmic Reading Centre and Clinical AI Lab)
Employment
Source: Self-asserted source
Nikolas Pontikos

University College London: London, GB

2022-01-01 to present | Senior Research Fellow (Institute of Ophthalmology)
Employment
Source: Self-asserted source
Nikolas Pontikos

University College London: London, GB

2019-04-01 to 2022-01-01 | Research Fellow (Institute of Ophthalmology)
Employment
Source: Self-asserted source
Nikolas Pontikos

University College London: London, GB

2016 to 2019-04 | Postdoc (Institute of Ophthalmology)
Employment
Source: Self-asserted source
Nikolas Pontikos

University College London: London, GB

2014-10 to 2016 | Postdoc (Internal Medicine)
Employment
Source: Self-asserted source
Nikolas Pontikos

European Bioinformatics Institute: Cambridge, Cambridgeshire, GB

2009 to 2011 | Production Engineer (Uniprot)
Employment
Source: Self-asserted source
Nikolas Pontikos

Gambit Research: London, London, GB

2007 to 2008 | Software Developer (Sport betting)
Employment
Source: Self-asserted source
Nikolas Pontikos

Education and qualifications (3)

University of Cambridge: Cambridge, Cambridgeshire, GB

2011-10 to 2014-10 | PhD (Medical Genetics)
Education
Source: Self-asserted source
Nikolas Pontikos

Imperial College London: London, London, GB

2008 to 2009 | MSci (Bioinformatics)
Education
Source: Self-asserted source
Nikolas Pontikos

University College London: London, GB

2003 to 2007 | MEng Computer Science (Computer Science)
Education
Source: Self-asserted source
Nikolas Pontikos

Professional activities (2)

ERN-EYE: Strasbourg, FR

2020-07-27 to present
Membership
Source: Self-asserted source
Nikolas Pontikos

National Institute of Sensory Organs: Tokyo, JP

2017-01-01 to present | Visiting PI
Invited position
Source: Self-asserted source
Nikolas Pontikos

Funding (7)

Eye2Gene: accelerating the diagnosis of inherited retinal diseases

2022-01 to 2025-01 | Award
National Institute for Health and Care Research (Leeds, GB)
URL: https://www.eye2gene.com/
GRANT_NUMBER: AI_AWARD02488
Source: Self-asserted source
Nikolas Pontikos

Gene regulation, genetic mechanisms and development of potential therapies for corneal endothelial dystrophies

2020-02-01 to 2024-07-30 | Grant
UK Research and Innovation (Swindon, GB)
URL: https://app.dimensions.ai/details/grant/grant.9289399
GRANT_NUMBER: MR/S031820/1
Source: Self-asserted source
Nikolas Pontikos via DimensionsWizard

Moorfields Eye Charity Career Development Award

2019-04 to 2020-10 | Award
Moorfields Eye Charity (London, GB)
Source: Self-asserted source
Nikolas Pontikos

ISCF HDRUK DIH Sprint Exemplar: MyEyeSite: a feasibility study and prototype for a patient-owned repository of rare-disease clinical and genetic data using inherited retinal disease as a paradigm

2019-02-11 to 2020-03-30 | Grant
Medical Research Council (London, GB)
URL: https://app.dimensions.ai/details/grant/grant.8101368
GRANT_NUMBER: MC_PC_18036
Source: Self-asserted source
Nikolas Pontikos via DimensionsWizard

Eye2Gene: assisting genetic diagnosis of inherited eye disease with artificial intelligence

2018-07-01 to 2020-09-30 | Grant
Moorfields Eye Charity (London, GB)
URL: https://app.dimensions.ai/details/grant/grant.8527734
GRANT_NUMBER:

R190012A
Source: Self-asserted source
Nikolas Pontikos via DimensionsWizard

Establishment of an intercontinental cohort database for ABCA4-associated retinal disorder, aiming for clinical trial of treatment

2016-04-01 to 2019-03-31 | Grant
Japan Society for the Promotion of Science (Tokyo, JP)
URL: https://app.dimensions.ai/details/grant/grant.5913293
GRANT_NUMBER: 16H06269
Source: Self-asserted source
Nikolas Pontikos via DimensionsWizard

Establishment of an intercontinental cohort database for ABCA4-associated retinal disorder in global eye genetic consortium, including 7 countries from Europe, America, and Asia(Fostering Joint International Research)

2016-01-01 to 2018-12-31 | Grant
Japan Society for the Promotion of Science (Tokyo, JP)
URL: https://app.dimensions.ai/details/grant/grant.6844091
GRANT_NUMBER: 16KK0193
Source: Self-asserted source
Nikolas Pontikos via DimensionsWizard

Works (50 of 108)

Items per page:
Page 1 of 3

Enhancing Patient Outcome Prediction Through Deep Learning With Sequential Diagnosis Codes From Structured Electronic Health Record Data: Systematic Review

Journal of Medical Internet Research
2025-03-18 | Journal article
DOI: 10.2196/57358
Contributors: Tuankasfee Hama; Mohanad M Alsaleh; Freya Allery; Jung Won Choi; Christopher Tomlinson; Honghan Wu; Alvina Lai; Nikolas Pontikos; Johan H Thygesen
Source: check_circle
Crossref

GIMMEcpg: Global Imputation of Mean CpG MEthylation in Real-time

2025-03-18 | Preprint
DOI: 10.1101/2025.03.17.643746
Contributors: Ismail Moghul; Niuzheng Chai; Nikolas Pontikos; Alison Hardcastle; Javier Herrero; Stephan Beck
Source: check_circle
Crossref

Macular, choroidal and disc associations across women’s reproductive life stages: a scoping review from menarche to post-menopause

Eye
2025-02 | Journal article
DOI: 10.1038/s41433-025-03592-w
Contributors: Ana Paula Ribeiro Reis; Estelle Ioannidou; Kelsey V. Stuart; Siegfried K. Wagner; Paul J. Foster; Anthony P. Khawaja; Axel Petzold; Sobha Sivaprasad; Nikolas Pontikos; Pearse A. Keane et al.
Source: check_circle
Crossref

A novel frameshift variant in BCOR causes congenital nuclear cataract

Ophthalmic Genetics
2024-11 | Journal article
DOI: 10.1080/13816810.2024.2373248
Contributors: Vanita Berry; Manav B. Ponnekanti; Nikolas Pontikos; Roy A. Quinlan; Michel Michaelides
Source: check_circle
Crossref

KCNV2-associated retinopathy: genotype–phenotype correlations –KCNV2study group report 3

British Journal of Ophthalmology
2024-08 | Journal article
DOI: 10.1136/bjo-2023-323640
Contributors: Thales A C de Guimaraes; Michalis Georgiou; Anthony G Robson; Kaoru Fujinami; Ajoy Vincent; Fadi Nasser; Samer Khateb; Omar A Mahroo; Nikolas Pontikos; Maurício E Vargas et al.
Source: check_circle
Crossref

Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort

Ophthalmology Retina
2024-07 | Journal article
DOI: 10.1016/j.oret.2024.01.012
Contributors: Siying Lin; Sandra Vermeirsch; Nikolas Pontikos; Maria Pilar Martin-Gutierrez; Malena Daich Varela; Samantha Malka; Elena Schiff; Hannah Knight; Genevieve Wright; Neringa Jurkute et al.
Source: check_circle
Crossref

A comparison of keratoconus progression following collagen cross-linkage using standard or personalised keratometry thresholds

Eye
2024-06 | Journal article
DOI: 10.1038/s41433-024-02994-6
Contributors: Ji-Peng Olivia Li; Howard P. Maile; Catey Bunce; Lynn Kandakji; Marcello T. Leucci; Bruce D. Allan; Stephen J. Tuft; Nikolas Pontikos; Daniel M. Gore
Source: check_circle
Crossref

RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers

American Journal of Ophthalmology
2024-05 | Journal article
DOI: 10.1016/j.ajo.2023.11.005
Contributors: Michalis Georgiou; Anthony G. Robson; Sami H. Uwaydat; Marco H. Ji; Ahmed F. Shakarchi; Nikolas Pontikos; Omar A. Mahroo; Michael E. Cheetham; Andrew R. Webster; Alison J. Hardcastle et al.
Source: check_circle
Crossref

Enhancing Patient Outcome Prediction Through Deep Learning With Sequential Diagnosis Codes From Structured Electronic Health Record Data: Systematic Review (Preprint)

2024-02-19 | Preprint
DOI: 10.2196/preprints.57358
Contributors: Tuankasfee Hama; Mohanad M Alsaleh; Freya Allery; Jung Won Choi; Christopher Tomlinson; Honghan Wu; Alvina Lai; Nikolas Pontikos; Johan H Thygesen
Source: check_circle
Crossref

A comparison of keratoconus progression following collagen cross-linkage using standard or personalised keratometry thresholds

2023-09-22 | Preprint
DOI: 10.21203/rs.3.rs-3242456/v1
Contributors: Stephen Tuft; Ji-Peng Li; Howard Maile; Catey Bunce; Lynn Kandakji; Marcello Leucci; Bruce Allan; Nikolas Pontikos; Daniel Gore
Source: check_circle
Crossref

Towards mitigating health inequity via machine learning: a nationwide cohort study to develop and validate ethnicity-specific models for prediction of cardiovascular disease risk in COVID-19 patients

2023-09-13 | Preprint
DOI: 10.1101/2023.09.13.23295489
Contributors: Freya Allery; Marta Pineda-Moncusí; Christopher Tomlinson; Nikolas Pontikos; Johan H Thygesen; Sara Khalid
Source: check_circle
Crossref

Classification of Lapses in Smokers Attempting to Stop: A Supervised Machine Learning Approach Using Data From a Popular Smoking Cessation Smartphone App

Nicotine and Tobacco Research
2023-06-09 | Journal article
DOI: 10.1093/ntr/ntad051
Contributors: Olga Perski; Kezhi Li; Nikolas Pontikos; David Simons; Stephanie P Goldstein; Felix Naughton; Jamie Brown
Source: check_circle
Crossref

RP2-Associated X-linked Retinopathy

Ophthalmology
2023-04 | Journal article
DOI: 10.1016/j.ophtha.2022.11.015
Contributors: Michalis Georgiou; Anthony G. Robson; Katarina Jovanovic; Thales A. C. de Guimarães; Naser Ali; Nikolas Pontikos; Sami H. Uwaydat; Omar A. Mahroo; Michael E. Cheetham; Andrew R. Webster et al.
Source: check_circle
Crossref

Eye2Gene: prediction of causal inherited retinal disease gene from multimodal imaging using deep-learning

2022-10-25 | Preprint
DOI: 10.21203/rs.3.rs-2110140/v1
Contributors: Nikolas Pontikos; William Woof; Advaith Veturi; Behnam Javanmardi; Miguel Ibarra-Arellano; Alexander Hustinx; Ismail Moghul; Yichen Liu; Kristina Heß; Michalis Georgiou et al.
Source: check_circle
Crossref

A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family

Ophthalmic Genetics
2022-09-03 | Journal article
DOI: 10.1080/13816810.2022.2090010
Contributors: Vanita Berry; Kaoru Fujinami; Kiyofumi Mochizuki; Takeshi Iwata; Nikolas Pontikos; Roy A. Quinlan; Michel Michaelides
Source: check_circle
Crossref

Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts

Eye
2022-08 | Journal article
DOI: 10.1038/s41433-021-01711-x
Contributors: Vanita Berry; Alex Ionides; Nikolas Pontikos; Anthony T. Moore; Roy A. Quinlan; Michel Michaelides
Source: check_circle
Crossref

AlzEye: longitudinal record-level linkage of ophthalmic imaging and hospital admissions of 353 157 patients in London, UK

BMJ Open
2022-03 | Journal article
DOI: 10.1136/bmjopen-2021-058552
Contributors: Siegfried Karl Wagner; Fintan Hughes; Mario Cortina-Borja; Nikolas Pontikos; Robbert Struyven; Xiaoxuan Liu; Hugh Montgomery; Daniel C Alexander; Eric Topol; Steffen Erhard Petersen et al.
Source: check_circle
Crossref

Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts

Ophthalmic Genetics
2022-03-04 | Journal article
DOI: 10.1080/13816810.2021.1998556
Contributors: Vanita Berry; Nikolas Pontikos; Alex Ionides; Angelos Kalitzeos; Roy A. Quinlan; Michel Michaelides
Source: check_circle
Crossref

Collaborative Research and Development of a Novel, Patient-Centered Digital Platform (MyEyeSite) for Rare Inherited Retinal Disease Data: Acceptability and Feasibility Study

JMIR Formative Research
2022-01-31 | Journal article
DOI: 10.2196/21341
Contributors: Rose M Gilbert; Dayyanah Sumodhee; Nikolas Pontikos; Catherine Hollyhead; Angus Patrick; Samuel Scarles; Sabrina Van Der Smissen; Rodrigo M Young; Nick Nettleton; Andrew R Webster et al.
Source: check_circle
Crossref

Panel‐based genetic testing for inherited retinal disease screening 176 genes

Molecular Genetics & Genomic Medicine
2021-12 | Journal article
DOI: 10.1002/mgg3.1663
Contributors: Leo H. N. Sheck; Simona D. Esposti; Omar A. Mahroo; Gavin Arno; Nikolas Pontikos; Genevieve Wright; Andrew R. Webster; Kamron N. Khan; Michel Michaelides
Source: check_circle
Crossref

Exploring the potential for acute anterior uveitis (AAU) patients to self-manage recurrences via a mobile application: qualitative analysis of a Moorfields Patient Experience focus group

Eye
2021-10-23 | Journal article
DOI: 10.1038/s41433-020-01190-6
Contributors: Shweta Lahiri; Dayyanah Sumodhee; Khaled Alkarmi; Nikolas Pontikos; Harry Petrushkin; Rose Gilbert
Source: check_circle
Crossref

SVRare: discovering disease-causing structural variants in the 100K Genomes Project

2021-10-18 | Preprint
DOI: 10.1101/2021.10.15.21265069
Contributors: Jing Yu; Anita Szabo; Alistair T Pagnamenta; Ahmed Shalaby; Edoardo Giacopuzzi; Jenny Taylor; Deborah Shears; Nikolas Pontikos; Genevieve Wright; Michel Michaelides et al.
Source: check_circle
Crossref

Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques

British Journal of Ophthalmology
2021-09 | Journal article
DOI: 10.1136/bjophthalmol-2020-318544
Contributors: Yu Fujinami-Yokokawa; Hideki Ninomiya; Xiao Liu; Lizhu Yang; Nikolas Pontikos; Kazutoshi Yoshitake; Takeshi Iwata; Yasunori Sato; Takeshi Hashimoto; Kazushige Tsunoda et al.
Source: check_circle
Crossref

Cloud-based genomics pipelines for ophthalmology: reviewed from research to clinical practice

Modeling and Artificial Intelligence in Ophthalmology
2021-09-17 | Journal article
DOI: 10.35119/maio.v3i1.115
Contributors: David C.S. Wong; Maximiliano Olivera; Jing Yu; Anita Szabo; Ismail Moghul; Konstantinos Balaskas; Robert Luben; Anthony P. Khawaja; Nikolas Pontikos; Pearse A. Keane
Source: check_circle
Crossref

Autosomal Recessive Bestrophinopathy

Ophthalmology
2021-05 | Journal article
DOI: 10.1016/j.ophtha.2020.10.006
Contributors: Giuseppe Casalino; Kamron N. Khan; Monica Armengol; Genevieve Wright; Nikolas Pontikos; Michalis Georgiou; Andrew R. Webster; Anthony G. Robson; Parampal S. Grewal; Michel Michaelides
Source: check_circle
Crossref

KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1

American Journal of Ophthalmology
2021-05 | Journal article
DOI: 10.1016/j.ajo.2020.11.022
Contributors: Michalis Georgiou; Anthony G. Robson; Kaoru Fujinami; Shaun M. Leo; Ajoy Vincent; Fadi Nasser; Thales Antônio Cabral De Guimarães; Samer Khateb; Nikolas Pontikos; Yu Fujinami-Yokokawa et al.
Source: check_circle
Crossref

The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies

Progress in Retinal and Eye Research
2021-05 | Journal article
DOI: 10.1016/j.preteyeres.2020.100898
Contributors: Samantha R. De Silva; Gavin Arno; Anthony G. Robson; Ana Fakin; Nikolas Pontikos; Moin D. Mohamed; Alan C. Bird; Anthony T. Moore; Michel Michaelides; Andrew R. Webster et al.
Source: check_circle
Crossref

Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles

Genes
2021-04-30 | Journal article
DOI: 10.3390/genes12050677
Contributors: Lubica Dudakova; Viktor Stranecky; Lenka Piherova; Tomas Palecek; Nikolas Pontikos; Stanislav Kmoch; Pavlina Skalicka; Manuela Vaneckova; Alice E. Davidson; Petra Liskova
Source: check_circle
Crossref
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Author Correction: Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder

Communications Biology
2021-04-09 | Journal article
DOI: 10.1038/s42003-021-01972-y
Contributors: Roberto Bonelli; Victoria E. Jackson; Aravind Prasad; Jacob E. Munro; Samaneh Farashi; Tjebo F. C. Heeren; Nikolas Pontikos; Lea Scheppke; Martin Friedlander; Catherine A. Egan et al.
Source: check_circle
Crossref

Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder

Communications Biology
2021-03-02 | Journal article
DOI: 10.1038/s42003-021-01788-w
Contributors: Roberto Bonelli; Victoria E. Jackson; Aravind Prasad; Jacob E. Munro; Samaneh Farashi; Tjebo F. C. Heeren; Nikolas Pontikos; Lea Scheppke; Martin Friedlander; Catherine A. Egan et al.
Source: check_circle
Crossref

Code-free deep learning for multi-modality medical image classification

Nature Machine Intelligence
2021-03-01 | Journal article
DOI: 10.1038/s42256-021-00305-2
Contributors: Edward Korot; Zeyu Guan; Daniel Ferraz; Siegfried K. Wagner; Gongyu Zhang; Xiaoxuan Liu; Livia Faes; Nikolas Pontikos; Samuel G. Finlayson; Hagar Khalid et al.
Source: check_circle
Crossref

Spatial Functional Characteristics of East Asian Patients With Occult Macular Dystrophy (Miyake Disease); EAOMD Report No. 2

American Journal of Ophthalmology
2021-01 | Journal article
DOI: 10.1016/j.ajo.2020.07.025
Contributors: Lizhu Yang; Kwangsic Joo; Kazushige Tsunoda; Mineo Kondo; Yu Fujinami-Yokokawa; Gavin Arno; Nikolas Pontikos; Xiao Liu; Natsuko Nakamura; Toshihide Kurihara et al.
Source: check_circle
Crossref

Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom

Ophthalmology
2020-10 | Journal article
DOI: 10.1016/j.ophtha.2020.04.008
Contributors: Nikolas Pontikos; Gavin Arno; Neringa Jurkute; Elena Schiff; Rola Ba-Abbad; Samantha Malka; Ainoa Gimenez; Michalis Georgiou; Genevieve Wright; Monica Armengol et al.
Source: check_circle
Crossref

Clinical and genetic characteristics of 10 Japanese patients with PROM1‐associated retinal disorder: A report of the phenotype spectrum and a literature review in the Japanese population

American Journal of Medical Genetics Part C: Seminars in Medical Genetics
2020-09 | Journal article
DOI: 10.1002/ajmg.c.31826
Contributors: Kaoru Fujinami; Akio Oishi; Lizhu Yang; Gavin Arno; Nikolas Pontikos; Kazutoshi Yoshitake; Yu Fujinami‐Yokokawa; Xiao Liu; Takaaki Hayashi; Satoshi Katagiri et al.
Source: check_circle
Crossref

RP2‐associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype–phenotype association

American Journal of Medical Genetics Part C: Seminars in Medical Genetics
2020-09 | Journal article
DOI: 10.1002/ajmg.c.31830
Contributors: Kaoru Fujinami; Xiao Liu; Shinji Ueno; Atsushi Mizota; Kei Shinoda; Kazuki Kuniyoshi; Yu Fujinami‐Yokokawa; Lizhu Yang; Gavin Arno; Nikolas Pontikos et al.
Source: check_circle
Crossref

Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder

2020-08-04 | Other
DOI: 10.1101/2020.08.02.20161117
Contributors: R Bonelli; VE Jackson; A Prasad; JE Munro; TFC Heeren; N Pontikos; L Scheppke; M Friedlander; CA Egan; R Allikmets et al.
Source: check_circle
Crossref

Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association

Scientific Reports
2020-06-12 | Journal article
DOI: 10.1038/s41598-020-65737-z
Contributors: Yu Fujinami-Yokokawa; Kaoru Fujinami; Kazuki Kuniyoshi; Takaaki Hayashi; Shinji Ueno; Atsushi Mizota; Kei Shinoda; Gavin Arno; Nikolas Pontikos; Lizhu Yang et al.
Source: check_circle
Crossref

Collaborative Research and Development of a Novel, Patient-Centered Digital Platform (MyEyeSite) for Rare Inherited Retinal Disease Data: Acceptability and Feasibility Study (Preprint)

2020-06-11 | Preprint
DOI: 10.2196/preprints.21341
Contributors: Rose M Gilbert; Dayyanah Sumodhee; Nikolas Pontikos; Catherine Hollyhead; Angus Patrick; Samuel Scarles; Sabrina Van Der Smissen; Rodrigo M Young; Nick Nettleton; Andrew R Webster et al.
Source: check_circle
Crossref

Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract

Genes
2020-05-06 | Journal article
DOI: 10.3390/genes11050512
Contributors: Vanita Berry; Alex Ionides; Nikolas Pontikos; Ismail Moghul; Anthony T. Moore; Roy A. Quinlan; Michel Michaelides
Source: check_circle
Crossref
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Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy

Ophthalmology Retina
2020-04 | Journal article
DOI: 10.1016/j.oret.2019.11.005
Contributors: Genevieve A. Wright; Michalis Georgiou; Anthony G. Robson; Naser Ali; Ambreen Kalhoro; SM Kleine Holthaus; Nikolas Pontikos; Ngozi Oluonye; Emanuel R. de Carvalho; Magella M. Neveu et al.
Source: check_circle
Crossref

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

Genes
2020-04-23 | Journal article
DOI: 10.3390/genes11040460
Contributors: Valentina Cipriani; Nikolas Pontikos; Gavin Arno; Panagiotis I. Sergouniotis; Eva Lenassi; Penpitcha Thawong; Daniel Danis; Michel Michaelides; Andrew R. Webster; Anthony T. Moore et al.
Source: check_circle
Crossref
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Phenogenon: Gene to phenotype associations for rare genetic diseases

PLOS ONE
2020-04-09 | Journal article
DOI: 10.1371/journal.pone.0230587
Contributors: Nikolas Pontikos; Obul Reddy Bandapalli; Cian Murphy; Ismail Moghul; Gavin Arno; Kaoru Fujinami; Yu Fujinami; Dayyanah Sumodhee; Susan Downes; Andrew Webster et al.
Source: check_circle
Crossref

Comment on: Trends in Retina Specialist Imaging Utilization From 2012 to 2016 in the United States Medicare Fee-for-Service Population

American Journal of Ophthalmology
2020-03 | Journal article
DOI: 10.1016/j.ajo.2019.09.021
Contributors: Nikolas Pontikos; Siegfried Karl Wagner; Konstantinos Balaskas; Livia Faes; Karsten Kortuem; Katrin Fasler; Pearse Andrew Keane
Source: check_circle
Crossref

‘It's a bit of a grey area’: challenges faced by stop smoking practitioners when advising on e-cigarettes

Journal of Smoking Cessation
2020-03-16 | Journal article
DOI: 10.1017/jsc.2019.25
Contributors: Dayyanah Sumodhee; Rachel Povey; Nikolas Pontikos
Source: check_circle
Crossref
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A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract

Ophthalmic Genetics
2020-03-03 | Journal article
DOI: 10.1080/13816810.2020.1737950
Contributors: Vanita Berry; Nikolas Pontikos; Lubica Dudakova; Anthony T. Moore; Roy Quinlan; Petra Liskova; Michel Michaelides
Source: check_circle
Crossref

ADDO: a comprehensive toolkit to detect, classify and visualize additive and non-additive quantitative trait loci

Bioinformatics
2020-03-01 | Journal article
DOI: 10.1093/bioinformatics/btz786
Contributors: Leilei Cui; Bin Yang; Nikolas Pontikos; Richard Mott; Lusheng Huang; Alfonso Valencia
Source: check_circle
Crossref

GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies

American Journal of Ophthalmology
2020-02 | Journal article
DOI: 10.1016/j.ajo.2019.10.019
Contributors: Zaina Bouzia; Michalis Georgiou; Sarah Hull; Anthony G. Robson; Kaoru Fujinami; Tryfon Rotsos; Nikolas Pontikos; Gavin Arno; Andrew R. Webster; Alison J. Hardcastle et al.
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phenogenon pipeline v1

2020-02-25 | Preprint
DOI: 10.17504/protocols.io.bcxiixke
Contributors: Nikolas Pontikos; Cian Murphy; Ismail Moghul; Jing Yu
Source: check_circle
Crossref

CUGC for posterior polymorphous corneal dystrophy (PPCD)

European Journal of Human Genetics
2020-01-14 | Journal article
DOI: 10.1038/s41431-019-0448-8
Contributors: Alice E. Davidson; Nathaniel J. Hafford-Tear; Lubica Dudakova; Amanda N. Sadan; Nikolas Pontikos; Alison J. Hardcastle; Stephen J. Tuft; Petra Liskova
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Deep Phenotyping of PDE6C-Associated Achromatopsia.

Investigative ophthalmology & visual science
2019-12 | Journal article
DOI: 10.1167/iovs.19-27761
PMID: 31826238
PMC: PMC6905659
Contributors: Georgiou M; Robson AG; Singh N; Pontikos N; Kane T; Hirji N; Ripamonti C; Rotsos T; Dubra A; Kalitzeos A et al.
Source: Self-asserted source
Nikolas Pontikos via Europe PubMed Central
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Items per page:
Page 1 of 3

Peer review (47 reviews for 21 publications/grants)

Review activity for American journal of human genetics. (1)
Review activity for Asia-Pacific journal of ophthalmology. (1)
Review activity for BMC medical informatics and decision making (3)
Review activity for British journal of ophthalmology (4)
Review activity for Cornea : (4)
Review activity for Diagnostics. (2)
Review activity for Eye (1)
Review activity for Genes. (1)
Review activity for Heliyon. (1)
Review activity for Human mutation. (2)
Review activity for IEEE transactions on medical imaging. (1)
Review activity for NAR genomics and bioinformatics. (3)
Review activity for Ophthalmology science. (7)
Review activity for Ophthalmology. (1)
Review activity for PLOS genetics (2)
Review activity for PLOS genetics. (1)
Review activity for Scientific reports. (3)
Review activity for Sensors. (5)
Review activity for Survey of ophthalmology. (2)
Review activity for The Lancet Healthy Longevity (1)
Review activity for Translational vision science & technology (1)
How many people are using ORCID?