Dr Nikolas, MEng, MSci, PhD - University College London

Dr Nikolas

MEng, MSci, PhD

University College London

London, London | United Kingdom

ORCID logohttps://orcid.org/0000-0003-1782-4711

Dr Nikolas, MEng, MSci, PhD - University College London

Dr Nikolas

MEng, MSci, PhD

Introduction

Primary Affiliation: University College London - London, London , United Kingdom

Education

Oct 2011 - Oct 2014
University of Cambridge
PhD
Medical Genetics
Jan 2008 - Jan 2009
Imperial College London
MSci
Bioinformatics
Jan 2003 - Jan 2007
University College London
MEng Computer Science
Computer Science

Experience

Jan 2009 - Jan 2011
European Bioinformatics Institute
Production Engineer
Uniprot
Jan 2007 - Jan 2008
Gambit Research
Software Developer
Sport betting
Oct 2014
University College London
Postdoc
Internal Medicine
Moorfields Eye Hospital
Data scientist
Moorfields Eye Hospital
Data scientist
University College London
Postdoc
Ophthalmology
University College London
Postdoc
Ophthalmology
University College London
Postdoc
Ophthalmology
University College London
Postdoc
Ophthalmology

Publications

57Publications

1212Reads

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

Am J Ophthalmol 2020 Feb 5;210:59-70. Epub 2019 Nov 5.

Moorfields Eye Hospital, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom; UK Inherited Retinal Dystrophy Consortium, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2019.10.019DOI Listing
February 2020
3.871 Impact Factor

CUGC for posterior polymorphous corneal dystrophy (PPCD).

Eur J Hum Genet 2020 Jan 14;28(1):126-131. Epub 2019 Jun 14.

First Faculty of Medicine, Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08, Prague 2, Czech Republic.

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http://dx.doi.org/10.1038/s41431-019-0448-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6906511PMC
January 2020
9 Reads
4.349 Impact Factor

Deep Phenotyping of PDE6C-Associated Achromatopsia.

Invest Ophthalmol Vis Sci 2019 12;60(15):5112-5123

UCL Institute of Ophthalmology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1167/iovs.19-27761DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6905659PMC
December 2019
5 Reads
3.404 Impact Factor

ADDO: a comprehensive toolkit to detect, classify and visualise additive and non-additive Quantitative Trait Loci.

Bioinformatics 2019 Nov 25. Epub 2019 Nov 25.

State Key Laboratory for Pig Genetic Improvement and Production Technology, Jiangxi Agricultural University, Nanchang, P. R. China.

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http://dx.doi.org/10.1093/bioinformatics/btz786DOI Listing
November 2019
4.981 Impact Factor

Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly.

Am J Ophthalmol 2019 Nov 8;207:87-98. Epub 2019 May 8.

UCL Institute of Ophthalmology, University College London, London, United Kingdom; Moorfields Eye Hospital, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2019.05.001DOI Listing
November 2019
2 Reads
3.871 Impact Factor

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

Br J Ophthalmol 2019 Oct 14. Epub 2019 Oct 14.

NIHR Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK

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http://bjo.bmj.com/lookup/doi/10.1136/bjophthalmol-2019-3144
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http://dx.doi.org/10.1136/bjophthalmol-2019-314446DOI Listing
October 2019
11 Reads
2.976 Impact Factor

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

Invest Ophthalmol Vis Sci 2019 08;60(10):3432-3446

Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.

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http://dx.doi.org/10.1167/iovs.19-26650DOI Listing
August 2019
1 Read
3.404 Impact Factor

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

Exp Eye Res 2019 05 7;182:160-166. Epub 2019 Mar 7.

Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08, Prague 2, Czech Republic; UCL Institute of Ophthalmology, 11-43 Bath Street, EC1V 9EL, London, United Kingdom; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, U Nemocnice 2, 128 08, Prague, Czech Republic. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00144835183078
Publisher Site
http://dx.doi.org/10.1016/j.exer.2019.03.002DOI Listing
May 2019
48 Reads
2.709 Impact Factor

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

Transl Vis Sci Technol 2019 May 29;8(3):25. Epub 2019 May 29.

Division of Optometry and Visual Science, School of Health Sciences, City, University of London, London, UK.

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http://dx.doi.org/10.1167/tvst.8.3.25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6543924PMC
May 2019
6 Reads

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

J Ophthalmol 2019 9;2019:1691064. Epub 2019 Apr 9.

Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo 152-8902, Japan.

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http://dx.doi.org/10.1155/2019/1691064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481010PMC
April 2019
7 Reads
1.935 Impact Factor

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

Blood 2018 09 31;132(12):1349-1353. Epub 2018 Jul 31.

Centre for Genomics and Child Health, Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.

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http://dx.doi.org/10.1182/blood-2018-03-837799DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293869PMC
September 2018
14 Reads
10.452 Impact Factor

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

Ophthalmic Genet 2018 04 17;39(2):236-241. Epub 2017 Oct 17.

a Genetics, UCL Institute of Ophthalmology , London , UK.

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http://dx.doi.org/10.1080/13816810.2017.1381977DOI Listing
April 2018
25 Reads
1.233 Impact Factor

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

Am J Hum Genet 2016 Dec 10;99(6):1338-1352. Epub 2016 Nov 10.

Institute of Ophthalmology, University College London, London EC1V 9EL, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.09.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142107PMC
December 2016
40 Reads
10.931 Impact Factor

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.

Am J Hum Genet 2016 Dec 23;99(6):1305-1315. Epub 2016 Nov 23.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030-3411, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030-3411, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142109PMC
December 2016
71 Reads
10.931 Impact Factor

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

Gastroenterology 2016 10 1;151(4):710-723.e2. Epub 2016 Jul 1.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York; Division of Gastroenterology, Icahn School of Medicine at Mount Sinai, New York, New York; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2016.06.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037012PMC
October 2016
189 Reads
16.716 Impact Factor

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

Gastroenterology 2016 10 1;151(4):698-709. Epub 2016 Jul 1.

Division of Medicine, University College London (UCL), London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2016.06.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643259PMC
October 2016
63 Reads
16.716 Impact Factor

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

JAMA Ophthalmol 2016 Aug;134(8):924-7

University College London Institute of Ophthalmology, London, England2Moorfields Eye Hospital, London, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2016.1543DOI Listing
August 2016
53 Reads

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

PLoS Genet 2015 Jun 24;11(6):e1005272. Epub 2015 Jun 24.

JDRF/Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, NIHR Biomedical Research Centre, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.

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http://dx.doi.org/10.1371/journal.pgen.1005272DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4481316PMC
June 2015
30 Reads

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

BMC Genomics 2014 Apr 11;15:274. Epub 2014 Apr 11.

JDRF/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Wellcome Trust/MRC Building, CB2 0XY, Cambridge, UK.

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http://dx.doi.org/10.1186/1471-2164-15-274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4029094PMC
April 2014
19 Reads
3.986 Impact Factor

Top co-authors

Alison J Hardcastle
Alison J Hardcastle

Institute of Ophthalmology

10
Vincent Plagnol
Vincent Plagnol

UCL Genetics Institute

9
Michel Michaelides
Michel Michaelides

University College London

9
Gavin Arno
Gavin Arno

St George's Hospital Medical School

8
Andrew R Webster
Andrew R Webster

UCL Institute of Ophthalmology

7
Stephen J Tuft
Stephen J Tuft

Moorfields Eye Hospital

7
Michael E Cheetham
Michael E Cheetham

UCL Institute of Ophthalmology

7
Anthony T Moore
Anthony T Moore

UCL Institute of Ophthalmology

6
Alice E Davidson
Alice E Davidson

University College London

6
Petra Liskova
Petra Liskova

Laboratory of the Biology and Pathology of the Eye

5