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Bioinformatics (Oxford, England)|November 26, 2019
ADDO: a comprehensive toolkit to detect, classify and visualize additive and non-additive quantitative trait lociLeilei Cui, Bin Yang, Nikolas Pontikos, et al.
AMIA ... Annual Symposium Proceedings. AMIA Symposium|February 23, 2026
Addressing Generalizability in Clinical Named Entity Recognition: Federated Learning or Large Language Models?: A Case Study on Visual Acuity Extraction from US and UK Eye InstitutesQuang N Nguyen, Honghan Wu, Nikolas Pontikos, et al.
Ophthalmic Genetics|July 3, 2024
A novel frameshift variant in <i>BCOR</i> causes congenital nuclear cataractVanita Berry, Manav B Ponnekanti, Nikolas Pontikos, et al.
Plos One|September 20, 2019
Frequency and distribution of corneal astigmatism and keratometry features in adult life: Methodology and findings of the UK Biobank studyNikolas Pontikos, Sharon Chua, Paul J Foster, et al.
Bioinformatics (Oxford, England)|June 22, 2017
Pheno4J: a gene to phenotype graph databaseSajid Mughal, Ismail Moghul, Jing Yu, et al.
Ophthalmic Genetics|November 8, 2021
Pathogenic variants in the <i>CYP21A2</i> gene cause isolated autosomal dominant congenital posterior polar cataractsVanita Berry, Nikolas Pontikos, Alex Ionides, et al.
Graefe'S Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie|September 19, 2024
Digital health and wearable devices for retinal disease monitoringMalena Daich Varela, Alejandro Sanders Villa, Nikolas Pontikos, et al.
Eye (London, England)|August 4, 2021
Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataractsVanita Berry, Alex Ionides, Nikolas Pontikos, et al.
Ophthalmic Genetics|March 24, 2020
A novel missense mutation in <i>LIM2</i> causing isolated autosomal dominant congenital cataractVanita Berry, Nikolas Pontikos, Lubica Dudakova, et al.
Ophthalmic Genetics|June 23, 2022
A recurrent variant in <i>LIM2</i> causes an isolated congenital sutural/lamellar cataract in a Japanese familyVanita Berry, Kaoru Fujinami, Kiyofumi Mochizuki, et al.
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