List of works - Nikolas Pontikos

A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF.

scientific article published on July 2016

A hybrid qPCR/SNP array approach allows cost efficient assessment of KIR gene copy numbers in large samples

scientific article

A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family.

scientific article published on 15 December 2017

A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract

scientific article published on 23 March 2020

A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract

scientific article

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

scientific article published on 01 March 2020

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

scientific article published on 16 March 2022

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

scientific article published on 23 April 2020

Automated deep learning design for medical image classification by health-care professionals with no coding experience: a feasibility study

scientific article published on 05 September 2019

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

scientific article

CUGC for posterior polymorphous corneal dystrophy (PPCD)

scientific article published on 14 June 2019

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

scientific article published on 12 June 2020

Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly

scientific article published on 08 May 2019

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

scientific article published on 20 August 2020

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

scientific article published in 2021

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

scientific article published on 08 October 2021

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

scientific article published on 15 November 2019

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

correction of a scientific article; published on 30 May 2019

Deep Phenotyping of PDE6C-Associated Achromatopsia

scientific article published on 01 December 2019

Dissection of a Complex Disease Susceptibility Region Using a Bayesian Stochastic Search Approach to Fine Mapping

scientific article

Dissection of a complex disease susceptibility region using a Bayesian stochastic search approach to fine mapping

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.

scientific article published on 08 August 2017

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.

scientific article published in March 2018

Elevation in Cell Cycle and Protein Metabolism Gene Transcription in Inactive Colonic Tissue From Icelandic Patients With Ulcerative Colitis

article

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

scientific article published on 23 September 2020

Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization.

scientific article

Frequency and distribution of corneal astigmatism and keratometry features in adult life: Methodology and findings of the UK Biobank study

scientific article published on 19 September 2019

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease

scientific article published in January 2018

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

scientific article published on 05 November 2019

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

scientific article published on 16 April 2020

Genetic Complexity of Crohn's Disease in Two Large Ashkenazi Jewish Families

scientific article

Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study

scientific article published on 27 June 2019

Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic variants

article published in the Proceedings of the National Academy of Sciences of the United States of America

Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.

scientific article

Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes

scientific article published on 31 July 2018

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

scientific article published on 02 March 2021

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

preprint published 25 September 2016

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

scientific article

Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy

scientific article published on 13 November 2019

Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females

scientific article published on 2 October 2017

Moorfields AMD database report 2: fellow eye involvement with neovascular age-related macular degeneration

scientific article published on 14 October 2019

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

scientific journal article

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa ⬇️

scientific journal article

Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies

scientific article published on 11 May 2017

Novel homozygous splicing mutations in cause autosomal recessive retinitis pigmentosa

scientific article published on 31 August 2018

One- and two-year visual outcomes from the Moorfields age-related macular degeneration database: a retrospective cohort study and an open science resource

scientific article published on 21 June 2019

Ongoing and future developments at the Universal Protein Resource

scientific article

Pheno4J: A Gene To Phenotype Graph Database

article

Pheno4J: a gene to phenotype graph database.

scientific article

Phenogenon: Gene to phenotype associations for rare genetic diseases

scientific article published on 09 April 2020

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

scientific article

Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data

Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

scientific article published on 01 August 2019

Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques

article

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

scientific article published on 01 September 2020

Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease

scientific article published on 22 August 2018

ReLayer: a Free, Online Tool for Extracting Retinal Thickness From Cross-Platform OCT Images

scientific article published on 29 May 2019

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

scientific article published on 9 June 2016

Reorganizing the protein space at the Universal Protein Resource (UniProt)

scientific article (publication date: 2012)

Seqfam: A python package for analysis of Next Generation Sequencing DNA data in families

Standardizing Flow Cytometry Immunophenotyping Analysis from the Human ImmunoPhenotyping Consortium

scientific article

The Human Salivary Microbiome Is Shaped by Shared Environment Rather than Genetics: Evidence from a Large Family of Closely Related Individuals.

scientific article published on 12 September 2017

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

scientific article published on 26 August 2020

The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis

scientific article published on 07 March 2019

Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy

scientific article published on 14 February 2019

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

scientific article published on 06 May 2020

List of works by Nikolas Pontikos

A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF.

A hybrid qPCR/SNP array approach allows cost efficient assessment of KIR gene copy numbers in large samples

A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family.

A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract

A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract

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

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

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

Automated deep learning design for medical image classification by health-care professionals with no coding experience: a feasibility study

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2

CUGC for posterior polymorphous corneal dystrophy (PPCD)

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

Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly

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

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

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

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

Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

Deep Phenotyping of PDE6C-Associated Achromatopsia

Dissection of a Complex Disease Susceptibility Region Using a Bayesian Stochastic Search Approach to Fine Mapping

Dissection of a complex disease susceptibility region using a Bayesian stochastic search approach to fine mapping

Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus.

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.

Elevation in Cell Cycle and Protein Metabolism Gene Transcription in Inactive Colonic Tissue From Icelandic Patients With Ulcerative Colitis

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

Familial Limbal Stem Cell Deficiency: Clinical, Cytological and Genetic Characterization.

Frequency and distribution of corneal astigmatism and keratometry features in adult life: Methodology and findings of the UK Biobank study

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease

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

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

Genetic Complexity of Crohn's Disease in Two Large Ashkenazi Jewish Families

Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study

Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic variants

Genome-wide linkage and haplotype sharing analysis implicates the MCDR3 locus as a candidate region for a developmental macular disorder in association with digit abnormalities.

Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes

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

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy

Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females

Moorfields AMD database report 2: fellow eye involvement with neovascular age-related macular degeneration

Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa ⬇️

Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies

Novel homozygous splicing mutations in cause autosomal recessive retinitis pigmentosa

One- and two-year visual outcomes from the Moorfields age-related macular degeneration database: a retrospective cohort study and an open science resource

Ongoing and future developments at the Universal Protein Resource

Pheno4J: A Gene To Phenotype Graph Database

Pheno4J: a gene to phenotype graph database.

Phenogenon: Gene to phenotype associations for rare genetic diseases

Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.

Phenopolis: an open platform for harmonization and analysis of sequencing and phenotype data

Phenotypical Characteristics of POC1B-Associated Retinopathy in Japanese Cohort: Cone Dystrophy With Normal Funduscopic Appearance

Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques

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

Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease

ReLayer: a Free, Online Tool for Extracting Retinal Thickness From Cross-Platform OCT Images

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

Reorganizing the protein space at the Universal Protein Resource (UniProt)

Seqfam: A python package for analysis of Next Generation Sequencing DNA data in families

Standardizing Flow Cytometry Immunophenotyping Analysis from the Human ImmunoPhenotyping Consortium

The Human Salivary Microbiome Is Shaped by Shared Environment Rather than Genetics: Evidence from a Large Family of Closely Related Individuals.

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

The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis

Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy

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

Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract