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The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Published in:
EMBO Molecular Medicine, 2024, v. 16, n. 10, p. 2560, doi. 10.1038/s44321-024-00118-x
By:
- Tummala, Hemanth;
- Walne, Amanda J;
- Badat, Mohsin;
- Patel, Manthan;
- Walne, Abigail M;
- Alnajar, Jenna;
- Chow, Chi Ching;
- Albursan, Ibtehal;
- Frost, Jennifer M;
- Ballard, David;
- Killick, Sally;
- Szitányi, Peter;
- Kelly, Anne M;
- Raghavan, Manoj;
- Powell, Corrina;
- Raymakers, Reinier;
- Todd, Tony;
- Mantadakis, Elpis;
- Polychronopoulou, Sophia;
- Pontikos, Nikolas
Publication type:
Article
Correction: Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Published in:
2019
By:
- Rivas, Manuel A.;
- Avila, Brandon E.;
- Koskela, Jukka;
- Huang, Hailiang;
- Stevens, Christine;
- Pirinen, Matti;
- Haritunians, Talin;
- Neale, Benjamin M.;
- Kurki, Mitja;
- Ganna, Andrea;
- Graham, Daniel;
- Glaser, Benjamin;
- Peter, Inga;
- Atzmon, Gil;
- Barzilai, Nir;
- Levine, Adam P.;
- Schiff, Elena;
- Pontikos, Nikolas;
- Weisburd, Ben;
- Lek, Monkol
Publication type:
Correction Notice
Author Correction: Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder.
Published in:
2021
By:
- Bonelli, Roberto;
- Jackson, Victoria E.;
- Prasad, Aravind;
- Munro, Jacob E.;
- Farashi, Samaneh;
- Heeren, Tjebo F. C.;
- Pontikos, Nikolas;
- Scheppke, Lea;
- Friedlander, Martin;
- MacTel Consortium;
- Egan, Catherine A.;
- Allikmets, Rando;
- Ansell, Brendan R. E.;
- Bahlo, Melanie
Publication type:
Correction Notice
Panel‐based genetic testing for inherited retinal disease screening 176 genes.
Published in:
Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 12, p. 1, doi. 10.1002/mgg3.1663
By:
- Sheck, Leo H. N.;
- Esposti, Simona D.;
- Mahroo, Omar A.;
- Arno, Gavin;
- Pontikos, Nikolas;
- Wright, Genevieve;
- Webster, Andrew R.;
- Khan, Kamron N.;
- Michaelides, Michel
Publication type:
Article
Association Between Retinal Features From Multimodal Imaging and Schizophrenia.
Published in:
JAMA Psychiatry, 2023, v. 80, n. 5, p. 478, doi. 10.1001/jamapsychiatry.2023.0171
By:
- Wagner, Siegfried K.;
- Cortina-Borja, Mario;
- Silverstein, Steven M.;
- Zhou, Yukun;
- Romero-Bascones, David;
- Struyven, Robbert R.;
- Trucco, Emanuele;
- Mookiah, Muthu R. K.;
- MacGillivray, Tom;
- Hogg, Stephen;
- Liu, Timing;
- Williamson, Dominic J.;
- Pontikos, Nikolas;
- Patel, Praveen J.;
- Balaskas, Konstantinos;
- Alexander, Daniel C.;
- Stuart, Kelsey V.;
- Khawaja, Anthony P.;
- Denniston, Alastair K.;
- Rahi, Jugnoo S.
Publication type:
Article
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.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 656, doi. 10.1002/ajmg.c.31826
By:
- Fujinami, Kaoru;
- Oishi, Akio;
- Yang, Lizhu;
- Arno, Gavin;
- Pontikos, Nikolas;
- Yoshitake, Kazutoshi;
- Fujinami‐Yokokawa, Yu;
- Liu, Xiao;
- Hayashi, Takaaki;
- Katagiri, Satoshi;
- Mizobuchi, Kei;
- Mizota, Atsushi;
- Shinoda, Kei;
- Nakamura, Natsuko;
- Kurihara, Toshihide;
- Tsubota, Kazuo;
- Miyake, Yozo;
- Iwata, Takeshi;
- Tsujikawa, Akitaka;
- Tsunoda, Kazushige
Publication type:
Article
RP2‐associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype–phenotype association.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 675, doi. 10.1002/ajmg.c.31830
By:
- Fujinami, Kaoru;
- Liu, Xiao;
- Ueno, Shinji;
- Mizota, Atsushi;
- Shinoda, Kei;
- Kuniyoshi, Kazuki;
- Fujinami‐Yokokawa, Yu;
- Yang, Lizhu;
- Arno, Gavin;
- Pontikos, Nikolas;
- Kameya, Shuhei;
- Kominami, Taro;
- Terasaki, Hiroko;
- Sakuramoto, Hiroyuki;
- Nakamura, Natsuko;
- Kurihara, Toshihide;
- Tsubota, Kazuo;
- Miyake, Yozo;
- Yoshiake, Kazutoshi;
- Iwata, Takeshi
Publication type:
Article
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Published in:
PLoS Genetics, 2018, v. 14, n. 5, p. 1, doi. 10.1371/journal.pgen.1007329
By:
- Rivas, Manuel A.;
- Avila, Brandon E.;
- Koskela, Jukka;
- Huang, Hailiang;
- Stevens, Christine;
- Pirinen, Matti;
- Haritunians, Talin;
- Neale, Benjamin M.;
- Kurki, Mitja;
- Ganna, Andrea;
- Graham, Daniel;
- Glaser, Benjamin;
- Peter, Inga;
- Atzmon, Gil;
- Barzilai, Nir;
- Levine, Adam P.;
- Schiff, Elena;
- Pontikos, Nikolas;
- Weisburd, Ben;
- Lek, Monkol
Publication type:
Article
Standardizing Flow Cytometry Immunophenotyping Analysis from the Human ImmunoPhenotyping Consortium.
Published in:
Scientific Reports, 2016, p. 20686, doi. 10.1038/srep20686
By:
- Finak, Greg;
- Langweiler, Marc;
- Jaimes, Maria;
- Malek, Mehrnoush;
- Taghiyar, Jafar;
- Korin, Yael;
- Raddassi, Khadir;
- Devine, Lesley;
- Obermoser, Gerlinde;
- Pekalski, Marcin L.;
- Pontikos, Nikolas;
- Diaz, Alain;
- Heck, Susanne;
- Villanova, Federica;
- Terrazzini, Nadia;
- Kern, Florian;
- Qian, Yu;
- Stanton, Rick;
- Wang, Kui;
- Brandes, Aaron
Publication type:
Article
Classification of Lapses in Smokers Attempting to Stop: A Supervised Machine Learning Approach Using Data From a Popular Smoking Cessation Smartphone App.
Published in:
Nicotine & Tobacco Research, 2023, v. 25, n. 7, p. 1330, doi. 10.1093/ntr/ntad051
By:
- Perski, Olga;
- Li, Kezhi;
- Pontikos, Nikolas;
- Simons, David;
- Goldstein, Stephanie P;
- Naughton, Felix;
- Brown, Jamie
Publication type:
Article
'It's a bit of a grey area': challenges faced by stop smoking practitioners when advising on e-cigarettes.
Published in:
Journal of Smoking Cessation, 2020, v. 15, n. 1, p. 44, doi. 10.1017/jsc.2019.25
By:
- Sumodhee, Dayyanah;
- Povey, Rachel;
- Pontikos, Nikolas
Publication type:
Article
Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder.
Published in:
Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-01788-w
By:
- Bonelli, Roberto;
- Jackson, Victoria E.;
- Prasad, Aravind;
- Munro, Jacob E.;
- Farashi, Samaneh;
- Heeren, Tjebo F. C.;
- Pontikos, Nikolas;
- Scheppke, Lea;
- Friedlander, Martin;
- MacTel Consortium;
- Egan, Catherine A.;
- Allikmets, Rando;
- Ansell, Brendan R. E.;
- Bahlo, Melanie
Publication type:
Article
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.
Published in:
Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-01784-0
By:
- Hardcastle, Alison J.;
- Liskova, Petra;
- Bykhovskaya, Yelena;
- McComish, Bennet J.;
- Davidson, Alice E.;
- Inglehearn, Chris F.;
- Li, Xiaohui;
- Choquet, Hélène;
- Habeeb, Mahmoud;
- Lucas, Sionne E. M.;
- Sahebjada, Srujana;
- Pontikos, Nikolas;
- Lopez, Karla E. Rojas;
- Khawaja, Anthony P.;
- Ali, Manir;
- Dudakova, Lubica;
- Skalicka, Pavlina;
- Van Dooren, Bart T. H.;
- Geerards, Annette J. M.;
- Haudum, Christoph W.
Publication type:
Article
Pegcetacoplan Treatment and Consensus Features of Geographic Atrophy Over 24 Months.
Published in:
JAMA Ophthalmology, 2024, v. 142, n. 6, p. 548, doi. 10.1001/jamaophthalmol.2024.1269
By:
- Fu, Dun Jack;
- Bagga, Pallavi;
- Naik, Gunjan;
- Glinton, Sophie;
- Faes, Livia;
- Liefers, Bart;
- Lima, Rosana;
- Wignall, Georgina;
- Keane, Pearse A.;
- Ioannidou, Estelle;
- Ribeiro Reis, Ana Paula;
- McKeown, Alex;
- Scheibler, Lukas;
- Patel, Praveen J.;
- Moghul, Ismail;
- Pontikos, Nikolas;
- Balaskas, Konstantinos
Publication type:
Article
Enablers and Barriers to Deployment of Smartphone-Based Home Vision Monitoring in Clinical Practice Settings.
Published in:
2022
By:
- Korot, Edward;
- Pontikos, Nikolas;
- Drawnel, Faye M.;
- Jaber, Aljazy;
- Fu, Dun Jack;
- Zhang, Gongyu;
- Miranda, Marco A.;
- Liefers, Bart;
- Glinton, Sophie;
- Wagner, Siegfried K.;
- Struyven, Robbert;
- Kilduff, Caroline;
- Moshfeghi, Darius M.;
- Keane, Pearse A.;
- Sim, Dawn A.;
- Thomas, Peter B. M.;
- Balaskas, Konstantinos
Publication type:
journal article
Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study.
Published in:
2019
By:
- Khawaja, Anthony P.;
- Rojas Lopez, Karla E.;
- Hardcastle, Alison J.;
- Hammond, Chris J.;
- Liskova, Petra;
- Davidson, Alice E.;
- Gore, Daniel M.;
- Hafford Tear, Nathan J.;
- Pontikos, Nikolas;
- Hayat, Shabina;
- Wareham, Nick;
- Khaw, Kay-Tee;
- Tuft, Stephen J.;
- Foster, Paul J.;
- Hysi, Pirro G.
Publication type:
journal article
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.
Published in:
2017
By:
- Taylor, Rachel L.;
- Arno, Gavin;
- Poulter, James A.;
- Khan, Kamron N.;
- Morarji, Jiten;
- Hull, Sarah;
- Pontikos, Nikolas;
- Martin, Antonio Rueda;
- Smith, Katherine R.;
- Ali, Manir;
- Toomes, Carmel;
- McKibbin, Martin;
- Clayton-Smith, Jill;
- Grunewald, Stephanie;
- Michaelides, Michel;
- Moore, Anthony T.;
- Hardcastle, Alison J.;
- Inglehearn, Chris F.;
- Webster, Andrew R.;
- Black, Graeme C.
Publication type:
journal article
Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).
Published in:
2016
By:
- Arno, Gavin;
- Holder, Graham E.;
- Chakarova, Christina;
- Kohl, Susanne;
- Pontikos, Nikolas;
- Fiorentino, Alessia;
- Plagnol, Vincent;
- Cheetham, Michael E.;
- Hardcastle, Alison J.;
- Webster, Andrew R.;
- Michaelides, Michel;
- UK Inherited Retinal Disease Consortium
Publication type:
journal article
Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-65737-z
By:
- Fujinami-Yokokawa, Yu;
- Fujinami, Kaoru;
- Kuniyoshi, Kazuki;
- Hayashi, Takaaki;
- Ueno, Shinji;
- Mizota, Atsushi;
- Shinoda, Kei;
- Arno, Gavin;
- Pontikos, Nikolas;
- Yang, Lizhu;
- Liu, Xiao;
- Sakuramoto, Hiroyuki;
- Katagiri, Satoshi;
- Mizobuchi, Kei;
- Kominami, Taro;
- Terasaki, Hiroko;
- Nakamura, Natsuko;
- Kameya, Shuhei;
- Yoshitake, Kazutoshi;
- Miyake, Yozo
Publication type:
Article
Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-62119-3
By:
- Yang, Lizhu;
- Fujinami, Kaoru;
- Ueno, Shinji;
- Kuniyoshi, Kazuki;
- Hayashi, Takaaki;
- Kondo, Mineo;
- Mizota, Atsushi;
- Naoi, Nobuhisa;
- Shinoda, Kei;
- Kameya, Shuhei;
- Fujinami-Yokokawa, Yu;
- Liu, Xiao;
- Arno, Gavin;
- Pontikos, Nikolas;
- Kominami, Taro;
- Terasaki, Hiroko;
- Sakuramoto, Hiroyuki;
- Katagiri, Satoshi;
- Mizobuchi, Kei;
- Nakamura, Natsuko
Publication type:
Article
Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques.
Published in:
Journal of Ophthalmology, 2019, p. 1, doi. 10.1155/2019/1691064
By:
- Fujinami-Yokokawa, Yu;
- Pontikos, Nikolas;
- Yang, Lizhu;
- Tsunoda, Kazushige;
- Yoshitake, Kazutoshi;
- Iwata, Takeshi;
- Miyata, Hiroaki;
- Fujinami, Kaoru;
- Japan Eye Genetics Consortium, on behalf of
Publication type:
Article
Phenogenon: Gene to phenotype associations for rare genetic diseases.
Published in:
PLoS ONE, 2020, v. 15, n. 4, p. 1, doi. 10.1371/journal.pone.0230587
By:
- Pontikos, Nikolas;
- Murphy, Cian;
- Moghul, Ismail;
- Arno, Gavin;
- Fujinami, Kaoru;
- Fujinami, Yu;
- Sumodhee, Dayyanah;
- Downes, Susan;
- Webster, Andrew;
- Yu, Jing
Publication type:
Article
Frequency and distribution of corneal astigmatism and keratometry features in adult life: Methodology and findings of the UK Biobank study.
Published in:
PLoS ONE, 2019, v. 14, n. 9, p. 1, doi. 10.1371/journal.pone.0218144
By:
- Pontikos, Nikolas;
- Chua, Sharon;
- Foster, Paul J.;
- Tuft, Stephen J.;
- Day, Alexander C.;
- null, null
Publication type:
Article
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.
Published in:
PLoS Genetics, 2024, v. 20, n. 5, p. 1, doi. 10.1371/journal.pgen.1011230
By:
- Bhattacharyya, Nihar;
- Chai, Niuzheng;
- Hafford-Tear, Nathaniel J.;
- Sadan, Amanda N.;
- Szabo, Anita;
- Zarouchlioti, Christina;
- Jedlickova, Jana;
- Leung, Szi Kay;
- Liao, Tianyi;
- Dudakova, Lubica;
- Skalicka, Pavlina;
- Parekh, Mohit;
- Moghul, Ismail;
- Jeffries, Aaron R.;
- Cheetham, Michael E.;
- Muthusamy, Kirithika;
- Hardcastle, Alison J.;
- Pontikos, Nikolas;
- Liskova, Petra;
- Tuft, Stephen J.
Publication type:
Article
Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy.
Published in:
2021
By:
- Georgiou, Michalis;
- Ali, Naser;
- Yang, Elizabeth;
- Grewal, Parampal S.;
- Rotsos, Tryfon;
- Pontikos, Nikolas;
- Robson, Anthony G.;
- Michaelides, Michel
Publication type:
journal article
The genetic landscape of crystallins in congenital cataract.
Published in:
2020
By:
- Berry, Vanita;
- Ionides, Alex;
- Pontikos, Nikolas;
- Georgiou, Michalis;
- Yu, Jing;
- Ocaka, Louise A.;
- Moore, Anthony T.;
- Quinlan, Roy A.;
- Michaelides, Michel
Publication type:
journal article
Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model.
Published in:
Brain Communications, 2021, v. 3, n. 3, p. 1, doi. 10.1093/braincomms/fcab162
By:
- Jurkute, Neringa;
- Bertacchi, Michele;
- Arno, Gavin;
- Tocco, Chiara;
- Kim, Ungsoo Samuel;
- Kruszewski, Adam M.;
- Avery, Robert A.;
- Bedoukian, Emma C.;
- Jinu Han;
- Sung Jun Ahn;
- Pontikos, Nikolas;
- Acheson, James;
- Davagnanam, Indran;
- Bowman, Richard;
- Kaliakatsos, Marios;
- Gardham, Alice;
- Wakeling, Emma;
- Oluonye, Ngozi;
- Reddy, Maddy Ashwin;
- Clark, Elaine
Publication type:
Article
Predicting sex from retinal fundus photographs using automated deep learning.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-89743-x
By:
- Korot, Edward;
- Pontikos, Nikolas;
- Liu, Xiaoxuan;
- Wagner, Siegfried K.;
- Faes, Livia;
- Huemer, Josef;
- Balaskas, Konstantinos;
- Denniston, Alastair K.;
- Khawaja, Anthony;
- Keane, Pearse A.
Publication type:
Article
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy.
Published in:
Acta Ophthalmologica (1755375X), 2023, v. 101, n. 6, p. 679, doi. 10.1111/aos.15654
By:
- Liu, Siyin;
- Sadan, Amanda N.;
- Muthusamy, Kirithika;
- Zarouchlioti, Christina;
- Jedlickova, Jana;
- Pontikos, Nikolas;
- Thaung, Caroline;
- Hardcastle, Alison J.;
- Netukova, Magdalena;
- Skalicka, Pavlina;
- Dudakova, Lubica;
- Bunce, Catey;
- Tuft, Stephen J.;
- Davidson, Alice E.;
- Liskova, Petra
Publication type:
Article
Eye2Gene.
Published in:
2022
By:
- Pontikos, Nikolas;
- Woof, William;
- de Guimarães, Thales Antonio Cabral;
- Varela, Malena Daich;
- Al‐Khuzaei, Saoud;
- Sen, Sagnik;
- Liu, Yichen;
- Liefers, Bart;
- Furman, Jennifer;
- Balaskas, Konstantinos;
- Michaelides, Michel
Publication type:
Abstract
Posterior corneal vesicles are not associated with the genetic variants that cause posterior polymorphous corneal dystrophy.
Published in:
Acta Ophthalmologica (1755375X), 2022, v. 100, n. 7, p. e1426, doi. 10.1111/aos.15114
By:
- Liskova, Petra;
- Hafford‐Tear, Nathaniel J.;
- Skalicka, Pavlina;
- Malinka, Frantisek;
- Jedlickova, Jana;
- Ďuďáková, Ľubica;
- Pontikos, Nikolas;
- Davidson, Alice E;
- Tuft, Stephen
Publication type:
Article
Integrating exome and whole genome analysis with the Human Phenotype Ontology for discovery of new genes in rare eye diseases.
Published in:
Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.5001
By:
- Pontikos, Nikolas
Publication type:
Article
Dissection of a Complex Disease Susceptibility Region Using a Bayesian Stochastic Search Approach to Fine Mapping.
Published in:
PLoS Genetics, 2015, v. 11, n. 6, p. 1, doi. 10.1371/journal.pgen.1005272
By:
- Wallace, Chris;
- Cutler, Antony J;
- Pontikos, Nikolas;
- Pekalski, Marcin L;
- Burren, Oliver S;
- Cooper, Jason D;
- García, Arcadio Rubio;
- Ferreira, Ricardo C;
- Guo, Hui;
- Walker, Neil M;
- Smyth, Deborah J;
- Rich, Stephen S;
- Onengut-Gumuscu, Suna;
- Sawcer, Stephen J;
- Ban, Maria;
- Richardson, Sylvia;
- Todd, John A;
- Wicker, Linda S
Publication type:
Article
Dissection of a Complex Disease Susceptibility Region Using a Bayesian Stochastic Search Approach to Fine Mapping.
Published in:
PLoS Genetics, 2015, v. 11, n. 5, p. 1, doi. 10.1371/journal.pgen.1005272
By:
- Wallace, Chris;
- Cutler, Antony J;
- Pontikos, Nikolas;
- Pekalski, Marcin L;
- Burren, Oliver S;
- Cooper, Jason D;
- García, Arcadio Rubio;
- Ferreira, Ricardo C;
- Guo, Hui;
- Walker, Neil M;
- Smyth, Deborah J;
- Rich, Stephen S;
- Onengut-Gumuscu, Suna;
- Sawcer, Stephen J;
- Ban, Maria;
- Richardson, Sylvia;
- Todd, John A;
- Wicker, Linda S
Publication type:
Article
Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.
Published in:
Human Mutation, 2019, v. 40, n. 5, p. 578, doi. 10.1002/humu.23715
By:
- Silva, Raquel S.;
- Arno, Gavin;
- Cipriani, Valentina;
- Pontikos, Nikolas;
- Defoort‐Dhellemmes, Sabine;
- Kalhoro, Ambreen;
- Carss, Keren J.;
- Raymond, F. Lucy;
- Dhaenens, Claire Marie;
- Jensen, Hanne;
- Rosenberg, Thomas;
- Heyningen, Veronica;
- Moore, Anthony T.;
- Puech, Bernard;
- Webster, Andrew R.
Publication type:
Article
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Published in:
Human Mutation, 2018, v. 39, n. 1, p. 80, doi. 10.1002/humu.23349
By:
- Fiorentino, Alessia;
- Fujinami, Kaoru;
- Arno, Gavin;
- Robson, Anthony G.;
- Pontikos, Nikolas;
- Arasanz Armengol, Monica;
- Plagnol, Vincent;
- Hayashi, Takaaki;
- Iwata, Takeshi;
- Parker, Matthew;
- Fowler, Tom;
- Rendon, Augusto;
- Gardner, Jessica C.;
- Henderson, Robert H.;
- Cheetham, Michael E.;
- Webster, Andrew R.;
- Michaelides, Michel;
- Hardcastle, Alison J.;
- for the 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium
Publication type:
Article
Evaluating the Effects of C3 Inhibition on Geographic Atrophy Progression from Deep-Learning OCT Quantification: A Split-Person Study.
Published in:
Ophthalmology & Therapy, 2023, v. 12, n. 6, p. 3143, doi. 10.1007/s40123-023-00798-7
By:
- Fu, Dun Jack;
- Lipkova, Veronika;
- Liefers, Bart;
- Glinton, Sophie;
- Faes, Livia;
- McKeown, Alex;
- Scheibler, Lukas;
- Pontikos, Nikolas;
- Patel, Praveen J.;
- Zhang, Gongyu;
- Keane, Pearse A.;
- Balaskas, Konstantinos
Publication type:
Article
Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles.
Published in:
Genes, 2021, v. 12, n. 5, p. 677, doi. 10.3390/genes12050677
By:
- Dudakova, Lubica;
- Stranecky, Viktor;
- Piherova, Lenka;
- Palecek, Tomas;
- Pontikos, Nikolas;
- Kmoch, Stanislav;
- Skalicka, Pavlina;
- Vaneckova, Manuela;
- Davidson, Alice E.;
- Liskova, Petra
Publication type:
Article
Whole Exome Sequencing Reveals Novel and Recurrent Disease-Causing Variants in Lens Specific Gap Junctional Protein Encoding Genes Causing Congenital Cataract.
Published in:
Genes, 2020, v. 11, n. 5, p. 512, doi. 10.3390/genes11050512
By:
- Berry, Vanita;
- Ionides, Alex;
- Pontikos, Nikolas;
- Moghul, Ismail;
- Moore, Anthony T.;
- Quinlan, Roy A.;
- Michaelides, Michel
Publication type:
Article
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Published in:
Genes, 2020, v. 11, n. 4, p. 1, doi. 10.3390/genes11040460
By:
- Cipriani, Valentina;
- Pontikos, Nikolas;
- Arno, Gavin;
- Sergouniotis, Panagiotis I.;
- Lenassi, Eva;
- Penpitcha Thawong;
- Danis, Daniel;
- Michaelides, Michel;
- Webster, Andrew R.;
- Moore, Anthony T.;
- Robinson, Peter N.;
- Jacobsen, Julius O. B.;
- Smedley, Damian
Publication type:
Article
A hybrid qPCR/SNP array approach allows cost efficient assessment of KIR gene copy numbers in large samples.
Published in:
BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-274
By:
- Pontikos, Nikolas;
- Smyth, Deborah J.;
- Schuilenburg, Helen;
- Howson, Joanna M. M.;
- Walker, Neil M.;
- Burren, Oliver S.;
- Hui Guo;
- Onengut-Gumuscu, Suna;
- Wei-Min Chen;
- Concannon, Patrick;
- Rich, Stephen S.;
- Jayaraman, Jyothi;
- Wei Jiang;
- Traherne, James A.;
- Trowsdale, John;
- Todd, John A.;
- Wallace, Chris
Publication type:
Article
Artificial intelligence in retinal disease: clinical application, challenges, and future directions.
Published in:
Graefe's Archive of Clinical & Experimental Ophthalmology, 2023, v. 261, n. 11, p. 3283, doi. 10.1007/s00417-023-06052-x
By:
- Daich Varela, Malena;
- Sen, Sagnik;
- De Guimaraes, Thales Antonio Cabral;
- Kabiri, Nathaniel;
- Pontikos, Nikolas;
- Balaskas, Konstantinos;
- Michaelides, Michel
Publication type:
Article
ADDO: a comprehensive toolkit to detect, classify and visualize additive and non-additive quantitative trait loci.
Published in:
Bioinformatics, 2020, v. 36, n. 5, p. 1517, doi. 10.1093/bioinformatics/btz786
By:
- Cui, Leilei;
- Yang, Bin;
- Pontikos, Nikolas;
- Mott, Richard;
- Huang, Lusheng
Publication type:
Article
Pheno4J: a gene to phenotype graph database.
Published in:
Bioinformatics, 2017, v. 33, n. 20, p. 3317, doi. 10.1093/bioinformatics/btx397
By:
- Mughal, Sajid;
- Moghul, Ismail;
- Jing Yu;
- Clark, Tristan;
- Gregory, David S.;
- Pontikos, Nikolas
Publication type:
Article
Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data.
Published in:
Bioinformatics, 2017, v. 33, n. 15, p. 2421, doi. 10.1093/bioinformatics/btx147
By:
- Pontikos, Nikolas;
- Jing Yu;
- Moghul, Ismail;
- Withington, Lucy;
- Blanco-Kelly, Fiona;
- Vulliamy, Tom;
- Wong, Tsz Lun Ernest;
- Murphy, Cian;
- Cipriani, Valentina;
- Fiorentino, Alessia;
- Arno, Gavin;
- Greene, Daniel;
- Jacobsen, Julius O. B.;
- Clark, Tristan;
- Gregory, David S.;
- Nemeth, Andrea M.;
- Halford, Stephanie;
- Inglehearn, Chris F.;
- Downes, Susan;
- Black, Graeme C.
Publication type:
Article
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-14829-5
By:
- Rio-Machin, Ana;
- Vulliamy, Tom;
- Hug, Nele;
- Walne, Amanda;
- Tawana, Kiran;
- Cardoso, Shirleny;
- Ellison, Alicia;
- Pontikos, Nikolas;
- Wang, Jun;
- Tummala, Hemanth;
- Al Seraihi, Ahad Fahad H.;
- Alnajar, Jenna;
- Bewicke-Copley, Findlay;
- Armes, Hannah;
- Barnett, Michael;
- Bloor, Adrian;
- Bödör, Csaba;
- Bowen, David;
- Fenaux, Pierre;
- Green, Andrew
Publication type:
Article

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