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

por Liam Shaw, Andre L. R. Ribeiro, Adam P. Levine, Nikolas Pontikos, Francois Balloux, Anthony W. Segal, Adam P. Roberts, Andrew M. Smith
Publicado 2017

Predicting sex from retinal fundus photographs using automated deep learning

por Edward Korot, Nikolas Pontikos, Xiaoxuan Liu, Siegfried K. Wagner, Livia Faes, Josef Huemer, Konstantinos Balaskas, Alastair K. Denniston, Anthony Khawaja, Pearse A. Keane
Publicado 2021

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

por Valentina Cipriani, Raquel S. Silva, Gavin Arno, Nikolas Pontikos, Ambreen Kalhoro, Sandra Valeina, Inna Inashkina, Mareta Audere, Katrina Rutka, Bernard Puech, Michel Michaelides, Veronica van Heyningen, Baiba Lace, Andrew R. Webster, Anthony T. Moore
Publicado 2017

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

por Roberto Bonelli, Victoria E. Jackson, Aravind Prasad, Jacob E. Munro, Samaneh Farashi, Tjebo F. C. Heeren, Nikolas Pontikos, Lea Scheppke, Martin Friedlander, MacTel Consortium, Catherine A. Egan, Rando Allikmets, Brendan R. E. Ansell, Melanie Bahlo
Publicado 2021

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

por Roberto Bonelli, Victoria E. Jackson, Aravind Prasad, Jacob E. Munro, Samaneh Farashi, Tjebo F. C. Heeren, Nikolas Pontikos, Lea Scheppke, Martin Friedlander, MacTel Consortium, Catherine A. Egan, Rando Allikmets, Brendan R. E. Ansell, Melanie Bahlo
Publicado 2021

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

por Ana Rio-Machin, Tom Vulliamy, Nele Hug, Amanda Walne, Kiran Tawana, Shirleny Cardoso, Alicia Ellison, Nikolas Pontikos, Jun Wang, Hemanth Tummala, Ahad Fahad H. Al Seraihi, Jenna Alnajar, Findlay Bewicke-Copley, Hannah Armes, Michael Barnett, Adrian Bloor, Csaba Bödör, David Bowen, Pierre Fenaux, Andrew Green, Andrew Hallahan, Henrik Hjorth-Hansen, Upal Hossain, Sally Killick, Sarah Lawson, Mark Layton, Alison M. Male, Judith Marsh, Priyanka Mehta, Rogier Mous, Josep F. Nomdedéu, Carolyn Owen, Jiri Pavlu, Elspeth M. Payne, Rachel E. Protheroe, Claude Preudhomme, Nuria Pujol-Moix, Aline Renneville, Nigel Russell, Anand Saggar, Gabriela Sciuccati, David Taussig, Cynthia L. Toze, Anne Uyttebroeck, Peter Vandenberghe, Brigitte Schlegelberger, Tim Ripperger, Doris Steinemann, John Wu, Joanne Mason, Paula Page, Susanna Akiki, Kim Reay, Jamie D. Cavenagh, Vincent Plagnol, Javier F. Caceres, Jude Fitzgibbon, Inderjeet Dokal
Publicado 2020

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

por Alison J. Hardcastle, Petra Liskova, Yelena Bykhovskaya, Bennet J. McComish, Alice E. Davidson, Chris F. Inglehearn, Xiaohui Li, Hélène 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 W. 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 Jin 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 Jorgenson, Paul N. Baird, Yaron S. Rabinowitz, Kathryn P. Burdon, Chris J. Hammond, Stephen J. Tuft, Pirro G. Hysi
Publicado 2021