Nikolas Pontikos (N Pontikos)

Loop profile Scopus Author ID ResearcherID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 51

Top Venues

Eye (London, England)

Ophthalmic genetics

PLoS genetics

BMJ open

University College London

University of Cambridge (PHD)

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

Affiliation History

University College London Apr 01 2019

United Kingdom

Research Fellow :: Institute of Ophthalmology

University College London

United Kingdom

Postdoc :: Institute of Ophthalmology

University College London

United Kingdom

Postdoc :: Internal Medicine

European Bioinformatics Institute

United Kingdom

Production Engineer :: Uniprot

Gambit Research

United Kingdom

Software Developer :: Sport betting

Education History

University of Cambridge

United Kingdom

PHD :: Medical Genetics

Publications

Vanita Berry, Manav B Ponnekanti, Nikolas Pontikos, Roy A Quinlan, Michel Michaelides
A novel frameshift variant in BCOR causes congenital nuclear cataract. Ophthalmic genetics (2024)
William Woof, Thales Antonio Cabral de Guimaraes, Saoud Al-Khuzaei, Malena Daich Varela, Sagnik Sen, Pallavi Bagga, Bernardo Mendes, Mital Shah, Paula Burke, David Parry, Siying Lin, Gunjan Naik, Biraja Ghoshal, Bart Liefers, Dun Jack Fu, Michalis Georgiou, Quang Nguyen, Alan Sousa da Silva, Yichen Liu, Yu Fujinami-Yokokawa, Nathaniel Kabiri, Dayyanah Sumodhee, Praveen J Patel, Jennifer Furman, Ismail Moghul, Juliana Maria Ferraz Sallum, Samantha Roshani De Silva, Birgit Lorenz, Frank G Holz, Kaoru Fujinami, Andrew R Webster, Omar A Mahroo, Susan M Downes, Savita Madhusudhan, Konstantinos Balaskas, Michel Michaelides, Nikolas Pontikos
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3000 Inherited Retinal Disease Patients from the United Kingdom. medRxiv : the preprint server for health sciences (2024)
Nihar Bhattacharyya, Niuzheng Chai, Nathaniel J Hafford-Tear, Amanda N Sadan, Anita Szabo, Christina Zarouchlioti, Jana Jedlickova, Szi Kay Leung, Tianyi Liao, Lubica Dudakova, Pavlina Skalicka, Mohit Parekh, Ismail Moghul, Aaron R Jeffries, Michael E Cheetham, Kirithika Muthusamy, Alison J Hardcastle, Nikolas Pontikos, Petra Liskova, Stephen J Tuft, Alice E Davidson
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease. PLoS genetics 20 (5) (2024)
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
A comparison of keratoconus progression following collagen cross-linkage using standard or personalised keratometry thresholds. Eye (London, England) (2024)
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
A comparison of keratoconus progression following collagen cross-linkage using standard or personalised keratometry thresholds. Eye (London, England) 38 (9) (2024)
Nihar Bhattacharyya, Niuzheng Chai, Nathaniel J Hafford-Tear, Amanda N Sadan, Anita Szabo, Christina Zarouchlioti, Jana Jedlickova, Szi Kay Leung, Tianyi Liao, Lubica Dudakova, Pavlina Skalicka, Mohit Parekh, Ismail Moghul, Aaron R Jeffries, Michael E Cheetham, Kirithika Muthusamy, Alison J Hardcastle, Nikolas Pontikos, Petra Liskova, Stephen J Tuft, Alice E Davidson
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease. PLoS genetics 20 (5) (2024)
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
A comparison of keratoconus progression following collagen cross-linkage using standard or personalised keratometry thresholds. Eye (London, England) 38 (9) (2024)
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
A comparison of keratoconus progression following collagen cross-linkage using standard or personalised keratometry thresholds. Eye (London, England) 38 (9) (2024)
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
A comparison of keratoconus progression following collagen cross-linkage using standard or personalised keratometry thresholds. Eye (London, England) 38 (9) (2024)
Nihar Bhattacharyya, Niuzheng Chai, Nathaniel J Hafford-Tear, Amanda N Sadan, Anita Szabo, Christina Zarouchlioti, Jana Jedlickova, Szi Kay Leung, Tianyi Liao, Lubica Dudakova, Pavlina Skalicka, Mohit Parekh, Ismail Moghul, Aaron R Jeffries, Michael E Cheetham, Kirithika Muthusamy, Alison J Hardcastle, Nikolas Pontikos, Petra Liskova, Stephen J Tuft, Alice E Davidson
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease. PLoS genetics 20 (5) (2024)
Nihar Bhattacharyya, Niuzheng Chai, Nathaniel J Hafford-Tear, Amanda N Sadan, Anita Szabo, Christina Zarouchlioti, Jana Jedlickova, Szi Kay Leung, Tianyi Liao, Lubica Dudakova, Pavlina Skalicka, Mohit Parekh, Ismail Moghul, Aaron R Jeffries, Michael E Cheetham, Kirithika Muthusamy, Alison J Hardcastle, Nikolas Pontikos, Petra Liskova, Stephen J Tuft, Alice E Davidson
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease. PLoS genetics 20 (5) (2024)
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
A comparison of keratoconus progression following collagen cross-linkage using standard or personalised keratometry thresholds. Eye (London, England) 38 (9) (2024)
Quang Nguyen, William Woof, Nathaniel Kabiri, Sagnik Sen, Malena Daich Varela, Thales Antonio Cabral de Guimaraes, Mital Shah, Dayyanah Sumodhee, Ismail Moghul, Saoud Al-Khuzaei, Yichen Liu, Catherine Hollyhead, Bhavna Tailor, Loy Lobo, Carl Veal, Stephen Archer, Jennifer Furman, Gavin Arno, Manuel Gomes, Kaoru Fujinami, Savita Madhusudhan, Omar A Mahroo, Andrew R Webster, Konstantinos Balaskas, Susan M Downes, Michel Michaelides, Nikolas Pontikos, null null
Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene). BMJ open 13 (3) (2023)
Olga Perski, Kezhi Li, Nikolas Pontikos, David Simons, Stephanie P Goldstein, Rupert Harwood, Jamie Brown
Classification of lapses in smokers attempting to stop: A supervised machine learning approach using data from a popular smoking cessation smartphone app. Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco (2023)
Thales Antonio Cabral de Guimaraes, Michalis Georgiou, Anthony G Robson, Kaoru Fujinami, Ajoy Vincent, Fadi Nasser, Samer Khateb, Omar A Mahroo, Nikolas Pontikos, Maurício E Vargas, Alberta A H J Thiadens, Emanuel R de Carvalho, Xuan-Than-An Nguyen, Gavin Arno, Yu Fujinami-Yokokawa, Xiao Liu, Kazushige Tsunoda, Takaaki Hayashi, Belén Jiménez-Rolando, Maria Inmaculada Martin-Merida, Almudena Avila-Fernandez, Ester Carreño Salas, Blanca Garcia-Sandoval, Carmen Ayuso, Dror Sharon, Susanne Kohl, Rachel M Huckfeldt, Eyal Banin, Mark E Pennesi, Arif O Khan, Bernd Wissinger, Andrew R Webster, Elise Heon, Camiel J F Boon, Eberhard Zrenner, Michel Michaelides
KCNV2 -associated retinopathy: genotype-phenotype correlations - KCNV2 study group report 3. The British journal of ophthalmology (2023)
Quang Nguyen, William Woof, Nathaniel Kabiri, Sagnik Sen, Malena Daich Varela, Thales Antonio Cabral de Guimaraes, Mital Shah, Dayyanah Sumodhee, Ismail Moghul, Saoud Al-Khuzaei, Yichen Liu, Catherine Hollyhead, Bhavna Tailor, Loy Lobo, Carl Veal, Stephen Archer, Jennifer Furman, Gavin Arno, Manuel Gomes, Kaoru Fujinami, Savita Madhusudhan, Omar A Mahroo, Andrew R Webster, Konstantinos Balaskas, Susan M Downes, Michel Michaelides, Nikolas Pontikos, null null
Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene). BMJ open 13 (3) (2023)
Quang Nguyen, William Woof, Nathaniel Kabiri, Sagnik Sen, Malena Daich Varela, Thales Antonio Cabral de Guimaraes, Mital Shah, Dayyanah Sumodhee, Ismail Moghul, Saoud Al-Khuzaei, Yichen Liu, Catherine Hollyhead, Bhavna Tailor, Loy Lobo, Carl Veal, Stephen Archer, Jennifer Furman, Gavin Arno, Manuel Gomes, Kaoru Fujinami, Savita Madhusudhan, Omar A Mahroo, Andrew R Webster, Konstantinos Balaskas, Susan M Downes, Michel Michaelides, Nikolas Pontikos, null null
Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene). BMJ open 13 (3) (2023)
Quang Nguyen, William Woof, Nathaniel Kabiri, Sagnik Sen, Malena Daich Varela, Thales Antonio Cabral de Guimaraes, Mital Shah, Dayyanah Sumodhee, Ismail Moghul, Saoud Al-Khuzaei, Yichen Liu, Catherine Hollyhead, Bhavna Tailor, Loy Lobo, Carl Veal, Stephen Archer, Jennifer Furman, Gavin Arno, Manuel Gomes, Kaoru Fujinami, Savita Madhusudhan, Omar A Mahroo, Andrew R Webster, Konstantinos Balaskas, Susan M Downes, Michel Michaelides, Nikolas Pontikos, null null
Can artificial intelligence accelerate the diagnosis of inherited retinal diseases? Protocol for a data-only retrospective cohort study (Eye2Gene). BMJ open 13 (3) (2023)
Vanita Berry, Kaoru Fujinami, Kiyofumi Mochizuki, Takeshi Iwata, Nikolas Pontikos, Roy A Quinlan, Michel Michaelides
A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family. Ophthalmic genetics 43 (5) (2022)
Siegfried Karl Wagner, Fintan Hughes, Mario Cortina-Borja, Nikolas Pontikos, Robbert Struyven, Xiaoxuan Liu, Hugh Montgomery, Daniel C Alexander, Eric J Topol, Steffen Erhard Petersen, Konstantinos Balaskas, Jack Hindley, Axel Petzold, Jugnoo Sangeeta Rahi, Alastair K Denniston, Pearse Andrew Keane
AlzEye: longitudinal record-level linkage of ophthalmic imaging and hospital admissions of 353 157 patients in London, UK. BMJ open 12 (3) (2022)
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, Jocelyn Cammack
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 6 (1) (2022)
Vanita Berry, Nikolas Pontikos, Alex Ionides, Angelos Kalitzeos, Roy A Quinlan, Michel Michaelides
Pathogenic variants in the CYP21A2 gene cause isolated autosomal dominant congenital posterior polar cataracts. Ophthalmic genetics (2021)
Roberto Bonelli, Victoria E Jackson, Aravind Prasad, Jacob E Munro, Samaneh Farashi, Tjebo F C Heeren, Nikolas Pontikos, Lea Scheppke, Martin Friedlander, null null, Catherine A Egan, Rando Allikmets, Brendan Robert E Ansell, Melanie Bahlo
Author Correction: Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder. Communications biology 4 (1) (2021)
Leo H N Sheck, Simona D Esposti, Omar A Mahroo, Gavin Arno, Nikolas Pontikos, Genevieve Wright, Andrew R Webster, Kamron N Khan, Michel Michaelides
Panel-based genetic testing for inherited retinal disease screening 176 genes. Molecular genetics & genomic medicine (2021)
Lubica Dudakova, Viktor Stranecky, Lenka Piherová, Tomas Palecek, Nikolas Pontikos, Stanislav Kmoch, Pavlina Skalicka, Manuela Vaneckova, Alice E Davidson, Petra Liskova
Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles. Genes 12 (5) (2021)
Yu Fujinami-Yokokawa, Hideki Ninomiya, Xiao Liu, Lizhu Yang, Nikolas Pontikos, Kazutoshi Yoshitake, Takeshi Iwata, Yasunori Sato, Takeshi Hashimoto, Kazushige Tsunoda, Hiroaki Miyata, Kaoru Fujinami, null null
Prediction of causative genes in inherited retinal disorder from fundus photography and autofluorescence imaging using deep learning techniques. The British journal of ophthalmology 105 (9) (2021)
Roberto Bonelli, Victoria E Jackson, Aravind Prasad, Jacob E Munro, Samaneh Farashi, Tjebo F C Heeren, Nikolas Pontikos, Lea Scheppke, Martin Friedlander, null null, Catherine A Egan, Rando Allikmets, Brendan Robert E Ansell, Melanie Bahlo
Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder. Communications biology 4 (1) (2021)
Howard Maile, Ji-Peng Olivia Li, Daniel Gore, Marcello Leucci, Pádraig J Mulholland, Scott C Hau, Anita Szabo, Ismail Moghul, Konstantinos Balaskas, Kaoru Fujinami, Pirro G Hysi, Alice E Davidson, Petra Liskova, Alison J Hardcastle, Stephen J Tuft, Nikolas Pontikos
Machine Learning Algorithms to Detect Subclinical Keratoconus: Systematic Review. JMIR medical informatics 9 (12) (2021)
null null, Damian Smedley, Katherine R Smith, Antonio Martin, Ellen A Thomas, Ellen M McDonagh, Valentina Cipriani, Jamie M Ellingford, Gavin Arno, Arianna Tucci, Jana Vandrovcova, Georgia Chan, Hywel J Williams, Thiloka Ratnaike, Wei Wei, Kathleen Stirrups, Kristina Ibanez, Loukas Moutsianas, Matthias Wielscher, Anna Need, Michael R Barnes, Letizia Vestito, James Buchanan, Sarah Wordsworth, Sofie Ashford, Karola Rehmström, Emily Li, Gavin Fuller, Philip Twiss, Olivera Spasic-Boskovic, Sally Halsall, R Andres Floto, Kenneth Poole, Annette Wagner, Sarju G Mehta, Mark Gurnell, Nigel Burrows, Roger James, Christopher Penkett, Eleanor Dewhurst, Stefan Gräf, Rutendo Mapeta, Mary Kasanicki, Andrea Haworth, Helen Savage, Melanie Babcock, Martin G Reese, Mark Bale, Emma Baple, Christopher Boustred, Helen Brittain, Anna de Burca, Marta Bleda, Andrew Devereau, Dina Halai, Eik Haraldsdottir, Zerin Hyder, Dalia Kasperaviciute, Christine Patch, Dimitris Polychronopoulos, Angela Matchan, Razvan Sultana, Mina Ryten, Ana L T Tavares, Carolyn Tregidgo, Clare Turnbull, Matthew Welland, Suzanne Wood, Catherine Snow, Eleanor Williams, Sarah Leigh, Rebecca E Foulger, Louise C Daugherty, Olivia Niblock, Ivone U S Leong, Caroline F Wright, Jim Davies, Charles Crichton, James Welch, Kerrie Woods, Lara Abulhoul, Paul Aurora, Detlef Bockenhauer, Alexander Broomfield, Maureen A Cleary, Tanya Lam, Mehul Dattani, Emma Footitt, Vijeya Ganesan, Stephanie Grunewald, Sandrine Compeyrot-Lacassagne, Francesco Muntoni, Clarissa Pilkington, Rosaline Quinlivan, Nikhil Thapar, Colin Wallis, Lucy R Wedderburn, Austen Worth, Teofila Bueser, Cecilia Compton, Charu Deshpande, Hiva Fassihi, Eshika Haque, Louise Izatt, Dragana Josifova, Shehla Mohammed, Leema Robert, Sarah Rose, Deborah Ruddy, Robert Sarkany, Genevieve Say, Adam C Shaw, Agata Wolejko, Bishoy Habib, Gavin Burns, Sarah Hunter, Russell J Grocock, Sean J Humphray, Peter Nick Robinson, Melissa Haendel, Michael A Simpson, Siddharth Banka, Jill Clayton-Smith, Sofia Douzgou, Georgina Hall, Huw B Thomas, Raymond T O'Keefe, Michel Michaelides, Anthony T Moore, Sam Malka, Nikolas Pontikos, Andrew C Browning, Volker Straub, Gráinne Siobhan Gorman, Rita Horvath, Richard Quinton, Andrew M Schaefer, Patrick Yu-Wai-Man, Doug M Turnbull, Robert McFarland, Robert W Taylor, Emer O'Connor, Janice Yip, Katrina Newland, Huw R Morris, James Polke, Nicholas W Wood, Carolyn Campbell, Carme Camps, Kate Gibson, Nils Koelling, Tracy Lester, Andrea H Németh, Claire Palles, Smita Patel, Noemi B A Roy, Arjune Sen, John Taylor, Pilar Cacheiro, Julius O Jacobsen, Eleanor G Seaby, Val Davison, Lyn Chitty, Angela Douglas, Kikkeri Naresh, Dom McMullan, Sian Ellard, I Karen Temple, Andrew D Mumford, Gill Wilson, Phil Beales, Maria Bitner-Glindzicz, Graeme Black, John R Bradley, Paul Brennan, John Burn, Patrick F Chinnery, Perry Mark Elliott, Frances Flinter, Henry Houlden, Melita Irving, William Newman, Shamima Rahman, John A Sayer, Jenny C Taylor, Andrew R Webster, Andrew O M Wilkie, Willem H Ouwehand, F Lucy Raymond, John Chisholm, Sue Hill, David Bentley, Richard H Scott, Tom Fowler, Augusto Rendon, Mark Caulfield
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. The New England journal of medicine 385 (20) (2021)
Vanita Berry, Alex Ionides, Nikolas Pontikos, Anthony T Moore, Roy A Quinlan, Michel Michaelides
Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts. Eye (London, England) (2021)
Neringa Jurkute, Michele Bertacchi, Gavin Arno, Chiara Tocco, Ungsoo Samuel Kim, Adam M Kruszewski, Robert A Avery, Emma C Bedoukian, Jinu Han, Sung Jun Ahn, Nikolas Pontikos, James Acheson, Indran Davagnanam, Richard Bowman, Marios Kaliakatsos, Alice Gardham, Emma Wakeling, Ngozi Oluonye, Maddy Ashwin Reddy, Elaine Clark, Elisabeth Rosser, Patrizia Amati-Bonneau, Majida Charif, Guy Lenaers, Isabelle Meunier, Sabine Defoort, Catherine Vincent-Delorme, Anthony G Robson, Graham E Holder, Luc Jeanjean, Antonio Martinez-Monseny, Mariona Vidal-Santacana, Chloé Dominici, Cedric Gaggioli, Nadia Giordano, Matteo Caleo, Grant T Liu, null null, Andrew R Webster, Michèle Studer, Patrick Yu-Wai-Man
Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model. Brain communications 3 (3) (2021)
Alison J Hardcastle, Petra Liskova, Yelena Bykhovskaya, Bennet J McComish, Alice E Davidson, Chris F Inglehearn, Xiaohui Li, Helene Choquet, Mahmoud Habeeb, Sionne E M Lucas, Srujana Sahebjada, Nikolas Pontikos, Karla E Rojas Lopez, Anthony P Khawaja, Manir Ali, Lubica Dudakova, Pavlina Skalicka, Bart T H Van Dooren, Annette J M Geerards, Christoph Walter Haudum, Valeria Lo Faro, Abi Tenen, Mark J Simcoe, Karina Patasova, Darioush Yarrand, Jie Yin, Salina Siddiqui, Aine Rice, Layal Abi Farraj, Yii-Der Ida Chen, Jugnoo S Rahi, Ronald M Krauss, Elisabeth Theusch, Jac C Charlesworth, Loretta Szczotka-Flynn, Carmel Toomes, Magda A Meester-Smoor, Andrea J Richardson, Paul A Mitchell, Kent D Taylor, Ronald B Melles, Anthony J Aldave, Richard A Mills, Ke Cao, Elsie Chan, Mark D Daniell, Jie Jing Wang, Jerome I Rotter, Alex W Hewitt, Stuart Macgregor, Caroline C W Klaver, Wishal D Ramdas, Jamie E Craig, Sudha K Iyengar, David O'Brart, Eric Jorgensen, Paul N Baird, Yaron S Rabinowitz, Kathryn P Burdon, Christopher J Hammond, Stephen J Tuft, Pirro G Hysi
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus. Communications biology 4 (1) (2021)
Shweta Lahiri, Dayyanah Sumodhee, Khaled Alkarmi, Nikolas Pontikos, Harry Petrushkin, Rose M Gilbert
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 (London, England) 35 (10) (2020)
Kaoru Fujinami, Xiao Liu, Shinji Ueno, Atsushi Mizota, Kei Shinoda, Kazuki Kuniyoshi, Yu Fujinami-Yokokawa, Lizhu Yang, Gavin Arno, Nikolas Pontikos, Shuhei Kameya, Taro Kominami, Hiroko Terasaki, Hiroyuki Sakuramoto, Natsuko Nakamura, Toshihide Kurihara, Kazuo Tsubota, Yozo Miyake, Kazutoshi Yoshiake, Takeshi Iwata, Kazushige Tsunoda, null null
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 184 (3) (2020)
Kaoru Fujinami, Akio Oishi, Lizhu Yang, Gavin Arno, Nikolas Pontikos, Kazutoshi Yoshitake, Yu Fujinami-Yokokawa, Xiao Liu, Takaaki Hayashi, Satoshi Katagiri, Kei Mizobuchi, Atsushi Mizota, Kei Shinoda, Natsuko Nakamura, Toshihide Kurihara, Kazuo Tsubota, Yozo Miyake, Takeshi Iwata, Akitaka Tsujikawa, Kazushige Tsunoda, null null
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 184 (3) (2020)
Nikolas Pontikos, Cian Murphy, Ismail Moghul, Gavin Arno, Kaoru Fujinami, Yu Fujinami, Dayyanah Sumodhee, Susan Downes, Andrew Webster, Jing Yu, null null
Phenogenon: Gene to phenotype associations for rare genetic diseases. PloS one 15 (4) (2020)
Vanita Berry, Nikolas Pontikos, Lubica Dudakova, Anthony T Moore, Roy Quinlan, Petra Liskova, Michel Michaelides
A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract. Ophthalmic genetics 41 (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)
Vanita Berry, Alex Ionides, Nikolas Pontikos, Ismail Moghul, Anthony T Moore, Roy A Quinlan, Michel Michaelides
Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract. Genes 11 (5) (2020)
Yu Fujinami-Yokokawa, Kaoru Fujinami, Kazuki Kuniyoshi, Takaaki Hayashi, Shinji Ueno, Atsushi Mizota, Kei Shinoda, Gavin Arno, Nikolas Pontikos, Lizhu Yang, Xiao Liu, Hiroyuki Sakuramoto, Satoshi Katagiri, Kei Mizobuchi, Taro Kominami, Hiroko Terasaki, Natsuko Nakamura, Shuhei Kameya, Kazutoshi Yoshitake, Yozo Miyake, Toshihide Kurihara, Masayuki Ohta, Hiroaki Miyata, Takeshi Iwata, Kazushige Tsunoda, null null
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association. Scientific reports 10 (1) (2020)
Alice E Davidson, Nathaniel J Hafford-Tear, Lubica Dudakova, Amanda N Sadan, Nikolas Pontikos, Alison J Hardcastle, Stephen J Tuft, Petra Liskova
CUGC for posterior polymorphous corneal dystrophy (PPCD). European journal of human genetics : EJHG 28 (1) (2019)
Nikolas Pontikos, Sharon Chua, Paul J Foster, Stephen J Tuft, Alexander C Day, null null
Frequency and distribution of corneal astigmatism and keratometry features in adult life: Methodology and findings of the UK Biobank study. PloS one 14 (9) (2019)
Yu Fujinami-Yokokawa, Nikolas Pontikos, Lizhu Yang, Kazushige Tsunoda, Kazutoshi Yoshitake, Takeshi Iwata, Hiroaki Miyata, Kaoru Fujinami, On Behalf Of Japan Eye Genetics Consortium
Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques. Journal of ophthalmology 2019 (2019)
Ken Y Hui, Heriberto Fernandez-Hernandez, Jianzhong Hu, Adam Schaffner, Nathan D Pankratz, Nai-Yun Hsu, Ling-Shiang Chuang, Shai Carmi, Nicole Villaverde, Xianting Li, Manuel A Rivas, Adam P Levine, Xiuliang Bao, Philippe Ronel Labrias, Talin Haritunians, Darren Ruane, Kyle Gettler, Ernie Chen, Dalin Li, Elena R Schiff, Nikolas Pontikos, Nir Barzilai, Steven R Brant, Susan B Bressman, Adam S Cheifetz, Lorraine N Clark, Mark J Daly, Robert J Desnick, Richard H Duerr, Seymour Katz, Todd Lencz, Richard H Myers, Harry Ostrer, Laurie J Ozelius, Haydeh Payami, Yakov Peter, John D Rioux, Anthony Walter Segal, William K Scott, Mark S Silverberg, Jeffery M Vance, Iban Ubarretxena-Belandia, Tatiana M Foroud, Gil Atzmon, Itsik Pe'er, Yiannis Ioannou, Dermot P B McGovern, Zhenyu Yue, Eric E Schadt, Judy H Cho, Inga Peter
Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease. Science translational medicine 10 (423) (2019)
Raquel Sofia Silva, Gavin Arno, Valentina Cipriani, Nikolas Pontikos, Sabine Defoort-Dhellemmes, Ambreen Kalhoro, Keren J Carss, F Lucy Raymond, Claire Marie Dhaenens, Hanne Jensen, Thomas Rosenberg, Veronica Van Heyningen, Anthony T Moore, Bernard Puech, Andrew R Webster
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy. Human mutation 40 (5) (2019)
Hemanth Tummala, Laura C Collopy, Amanda J Walne, Alicia Ellison, Shirleny Cardoso, Tekin Aksu, Nese Yarali, Deniz Aslan, Rüştü Fikret Akata, Juliana Teo, Zhou Songyang, Nikolas Pontikos, Jude Fitzgibbon, Kazunori Tomita, Tom Vulliamy, Inderjeet Dokal
Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes. Blood 132 (12) (2018)
Manuel A Rivas, Brandon E Avila, Jukka Koskela, Hailiang Huang, Christine Stevens, Matti Pirinen, Talin Haritunians, Benjamin M Neale, Mitja Kurki, Andrea Ganna, Daniel Graham, Benjamin Glaser, Inga Peter, Gil Atzmon, Nir Barzilai, Adam P Levine, Elena Schiff, Nikolas Pontikos, Ben Weisburd, Monkol Lek, Konrad J Karczewski, Jonathan Bloom, Eric V Minikel, Britt-Sabina Petersen, Laurent Beaugerie, Philippe Seksik, Jacques Cosnes, Stefan Schreiber, Bernd Bokemeyer, Johannes Bethge, null null, null null, null null, Graham A Heap, Tariq Ahmad, Vincent Plagnol, Anthony W Segal, Stephan Targan, Dan Turner, Paivi Saavalainen, Martti Farkkila, Kimmo Kontula, Aarno Palotie, Steven R Brant, Richard H Duerr, Mark S Silverberg, John D Rioux, Rinse K Weersma, Andre Franke, Luke Jostins, Carl A Anderson, Jeffrey C Barrett, Daniel G MacArthur, Chaim Jalas, Harry Sokol, Ramnik J Xavier, Ann Pulver, Judy H Cho, Dermot P B McGovern, Mark J Daly
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. PLoS genetics 14 (5) (2018)
Vanita Berry, Alexander C W Ionides, Nikolas Pontikos, Ismail Moghul, Anthony T Moore, Michael E Cheetham, Michel Michaelides
Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract. Eye (London, England) 32 (2018)
Vanita Berry, Nikolas Pontikos, Monica Albarca-Aguilera, Vincent Plagnol, Andreas Massouras, DeQuincy Prescott, Anthony T Moore, Gavin Arno, Michael E Cheetham, Michel Michaelides
A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract. Ophthalmic genetics 39 (2) (2017)
Valentina Cipriani, Ambreen Kalhoro, Gavin Arno, Raquel Sofia Silva, Nikolas Pontikos, Virginie Puech, Michelle E McClements, David M Hunt, Veronica Van Heyningen, Michel Michaelides, Andrew R Webster, Anthony T Moore, Bernard Puech
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. Ophthalmic genetics 38 (6) (2017)
V Berry, Nikolas Pontikos, A Moore, A C W Ionides, V Plagnol, M E Cheetham, M Michaelides
A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family. Eye (London, England) 32 (4) (2017)

Nikolas Pontikos.css-eqlu8i{font-size:small;padding-left:4px;} (N Pontikos)

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Nikolas Pontikos (N Pontikos)