Contribution of common PCSK1 genetic variants to obesity in 8,359 subjects from multi-ethnic American population.

por Hélène Choquet, Jay Kasberger, Ajna Hamidovic, Eric Jorgenson
Publicado 2013

New and sex-specific migraine susceptibility loci identified from a multiethnic genome-wide meta-analysis

por Hélène Choquet, Jie Yin, Alice S. Jacobson, Brandon H. Horton, Thomas J. Hoffmann, Eric Jorgenson, Andrew L. Avins, Alice R. Pressman
Publicado 2021

Genetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations

por Eric Jorgenson, Hélène Choquet, Jie Yin, Thomas J. Hoffmann, Yambazi Banda, Mark N. Kvale, Neil Risch, Catherine Schaefer, Maryam M. Asgari
Publicado 2020

A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure

por Hélène Choquet, Khanh K. Thai, Jie Yin, Thomas J. Hoffmann, Mark N. Kvale, Yambazi Banda, Catherine Schaefer, Neil Risch, K. Saidas Nair, Ronald Melles, Eric Jorgenson
Publicado 2017

A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects

por Hélène Choquet, Ronald B. Melles, Deepti Anand, Jie Yin, Gabriel Cuellar-Partida, Wei Wang, 23andMe Research Team, Thomas J. Hoffmann, K. Saidas Nair, Pirro G. Hysi, Salil A. Lachke, Eric Jorgenson
Publicado 2021

A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci

por Hélène Choquet, Seyyedhassan Paylakhi, Stephen C. Kneeland, Khanh K. Thai, Thomas J. Hoffmann, Jie Yin, Mark N. Kvale, Yambazi Banda, Nicholas G. Tolman, Pete A. Williams, Catherine Schaefer, Ronald B. Melles, Neil Risch, Simon W. M. John, K. Saidas Nair, Eric Jorgenson
Publicado 2018

GLIS1 regulates trabecular meshwork function and intraocular pressure and is associated with glaucoma in humans

por K. Saidas Nair, Chitrangda Srivastava, Robert V. Brown, Swanand Koli, Hélène Choquet, Hong Soon Kang, Yien-Ming Kuo, Sara A. Grimm, Caleb Sutherland, Alexandra Badea, G. Allan Johnson, Yin Zhao, Jie Yin, Kyoko Okamoto, Graham Clark, Terete Borrás, Gulab Zode, Krishnakumar Kizhatil, Subhabrata Chakrabarti, Simon W. M. John, Eric Jorgenson, Anton M. Jetten
Publicado 2021

Correction: Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.

por Hannah Currant, Pirro Hysi, Tomas W Fitzgerald, Puya Gharahkhani, Pieter W M Bonnemaijer, Anne Senabouth, Alex W Hewitt, UK Biobank Eye and Vision Consortium, International Glaucoma Genetics Consortium, Denize Atan, Tin Aung, Jason Charng, Hélène Choquet, Jamie Craig, Peng T Khaw, Caroline C W Klaver, Michiaki Kubo, Jue-Sheng Ong, Louis R Pasquale, Charles A Reisman, Maciej Daniszewski, Joseph E Powell, Alice Pébay, Mark J Simcoe, Alberta A H J Thiadens, Cornelia M van Duijn, Seyhan Yazar, Eric Jorgenson, Stuart MacGregor, Chris J Hammond, David A Mackey, Janey L Wiggs, Paul J Foster, Praveen J Patel, Ewan Birney, Anthony P Khawaja
Publicado 2021

Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.

por Hannah Currant, Pirro Hysi, Tomas W Fitzgerald, Puya Gharahkhani, Pieter W M Bonnemaijer, Anne Senabouth, Alex W Hewitt, UK Biobank Eye and Vision Consortium, International Glaucoma Genetics Consortium, Denize Atan, Tin Aung, Jason Charng, Hélène Choquet, Jamie Craig, Peng T Khaw, Caroline C W Klaver, Michiaki Kubo, Jue-Sheng Ong, Louis R Pasquale, Charles A Reisman, Maciej Daniszewski, Joseph E Powell, Alice Pébay, Mark J Simcoe, Alberta A H J Thiadens, Cornelia M van Duijn, Seyhan Yazar, Eric Jorgenson, Stuart MacGregor, Chris J Hammond, David A Mackey, Janey L Wiggs, Paul J Foster, Praveen J Patel, Ewan Birney, Anthony P Khawaja
Publicado 2021

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

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixe...

por Madeline H Kowalski, Huijun Qian, Ziyi Hou, Jonathan D Rosen, Amanda L Tapia, Yue Shan, Deepti Jain, Maria Argos, Donna K Arnett, Christy Avery, Kathleen C Barnes, Lewis C Becker, Stephanie A Bien, Joshua C Bis, John Blangero, Eric Boerwinkle, Donald W Bowden, Steve Buyske, Jianwen Cai, Michael H Cho, Seung Hoan Choi, Hélène Choquet, L Adrienne Cupples, Mary Cushman, Michelle Daya, Paul S de Vries, Patrick T Ellinor, Nauder Faraday, Myriam Fornage, Stacey Gabriel, Santhi K Ganesh, Misa Graff, Namrata Gupta, Jiang He, Susan R Heckbert, Bertha Hidalgo, Chani J Hodonsky, Marguerite R Irvin, Andrew D Johnson, Eric Jorgenson, Robert Kaplan, Sharon L R Kardia, Tanika N Kelly, Charles Kooperberg, Jessica A Lasky-Su, Ruth J F Loos, Steven A Lubitz, Rasika A Mathias, Caitlin P McHugh, Courtney Montgomery, Jee-Young Moon, Alanna C Morrison, Nicholette D Palmer, Nathan Pankratz, George J Papanicolaou, Juan M Peralta, Patricia A Peyser, Stephen S Rich, Jerome I Rotter, Edwin K Silverman, Jennifer A Smith, Nicholas L Smith, Kent D Taylor, Timothy A Thornton, Hemant K Tiwari, Russell P Tracy, Tao Wang, Scott T Weiss, Lu-Chen Weng, Kerri L Wiggins, James G Wilson, Lisa R Yanek, Sebastian Zöllner, Kari E North, Paul L Auer, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, TOPMed Hematology & Hemostasis Working Group, Laura M Raffield, Alexander P Reiner, Yun Li
Publicado 2019

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

por Puya Gharahkhani, Eric Jorgenson, Pirro Hysi, Anthony P. Khawaja, Sarah Pendergrass, Xikun Han, Jue Sheng Ong, Alex W. Hewitt, Ayellet V. Segrè, John M. Rouhana, Andrew R. Hamel, Robert P. Igo, Helene Choquet, Ayub Qassim, Navya S. Josyula, Jessica N. Cooke Bailey, Pieter W. M. Bonnemaijer, Adriana Iglesias, Owen M. Siggs, Terri L. Young, Veronique Vitart, Alberta A. H. J. Thiadens, Juha Karjalainen, Steffen Uebe, Ronald B. Melles, K. Saidas Nair, Robert Luben, Mark Simcoe, Nishani Amersinghe, Angela J. Cree, Rene Hohn, Alicia Poplawski, Li Jia Chen, Shi-Song Rong, Tin Aung, Eranga Nishanthie Vithana, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, 23 and Me Research Team, Gen Tamiya, Yukihiro Shiga, Masayuki Yamamoto, Toru Nakazawa, Hannah Currant, Ewan Birney, Xin Wang, Adam Auton, Michelle K. Lupton, Nicholas G. Martin, Adeyinka Ashaye, Olusola Olawoye, Susan E. Williams, Stephen Akafo, Michele Ramsay, Kazuki Hashimoto, Yoichiro Kamatani, Masato Akiyama, Yukihide Momozawa, Paul J. Foster, Peng T. Khaw, James E. Morgan, Nicholas G. Strouthidis, Peter Kraft, Jae H. Kang, Chi Pui Pang, Francesca Pasutto, Paul Mitchell, Andrew J. Lotery, Aarno Palotie, Cornelia van Duijn, Jonathan L. Haines, Chris Hammond, Louis R. Pasquale, Caroline C. W. Klaver, Michael Hauser, Chiea Chuen Khor, David A. Mackey, Michiaki Kubo, Ching-Yu Cheng, Jamie E. Craig, Stuart MacGregor, Janey L. Wiggs
Publicado 2021