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Optical Coherence Tomography Combined With Videokeratography to Differentiate Mild Keratoconus Subtypes.
Published in:
Journal of Refractive Surgery, 2014, v. 30, n. 2, p. 80, doi. 10.3928/1081597X-20140120-02
By:
- Rabinowitz, Yaron S.;
- Xiaohui Li;
- Caiado Canedo, Ana Laura;
- Ambrósio Jr., Renato;
- Bykhovskaya, Yelena
Publication type:
Article
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
Published in:
Nature Genetics, 2013, v. 45, n. 2, p. 155, doi. 10.1038/ng.2506
By:
- Lu, Yi;
- Vitart, Veronique;
- Burdon, Kathryn P;
- Khor, Chiea Chuen;
- Bykhovskaya, Yelena;
- Mirshahi, Alireza;
- Hewitt, Alex W;
- Koehn, Demelza;
- Hysi, Pirro G;
- Ramdas, Wishal D;
- Zeller, Tanja;
- Vithana, Eranga N;
- Cornes, Belinda K;
- Tay, Wan-Ting;
- Tai, E Shyong;
- Cheng, Ching-Yu;
- Liu, Jianjun;
- Foo, Jia-Nee;
- Saw, Seang Mei;
- Thorleifsson, Gudmar
Publication type:
Article
A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice.
Published in:
Nature Genetics, 2001, v. 27, n. 2, p. 191, doi. 10.1038/84831
By:
- Johnson, Kenneth R.;
- Y Zheng, Qing;
- Bykhovskaya, Yelena;
- Spirina, Olga;
- Fischel-Ghodsian, Nathan
Publication type:
Article
Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations.
Published in:
Scientific Reports, 2016, p. 26202, doi. 10.1038/srep26202
By:
- Mangum, Joshua E.;
- Hardee, Justin P.;
- Fix, Dennis K.;
- Puppa, Melissa J.;
- Elkes, Johnathon;
- Altomare, Diego;
- Bykhovskaya, Yelena;
- Campagna, Dean R.;
- Schmidt, Paul J.;
- Sendamarai, Anoop K.;
- Lidov, Hart G. W.;
- Barlow, Shayne C.;
- Fischel-Ghodsian, Nathan;
- Fleming, Mark D.;
- Carson, James A.;
- Patton, Jeffrey R.
Publication type:
Article
Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
Published in:
Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-018-07819-1
By:
- Iglesias, Adriana I.;
- Mishra, Aniket;
- Vitart, Veronique;
- Bykhovskaya, Yelena;
- Höhn, René;
- Springelkamp, Henriët;
- Cuellar-Partida, Gabriel;
- Gharahkhani, Puya;
- Bailey, Jessica N. Cooke;
- Willoughby, Colin E.;
- Li, Xiaohui;
- Yazar, Seyhan;
- Nag, Abhishek;
- Khawaja, Anthony P.;
- Polašek, Ozren;
- Siscovick, David;
- Mitchell, Paul;
- Tham, Yih Chung;
- Haines, Jonathan L.;
- Kearns, Lisa S.
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
Association of Genetic Variation With Keratoconus.
Published in:
2020
By:
- McComish, Bennet J.;
- Sahebjada, Srujana;
- Bykhovskaya, Yelena;
- Willoughby, Colin E.;
- Richardson, Andrea J.;
- Tenen, Abi;
- Charlesworth, Jac C.;
- MacGregor, Stuart;
- Mitchell, Paul;
- Lucas, Sionne E. M.;
- Mills, Richard A.;
- Mackey, David A.;
- Li, Xiaohui;
- Wang, Jie Jin;
- Jensen, Richard A.;
- Rotter, Jerome I.;
- Taylor, Kent D.;
- Hewitt, Alex W.;
- Rabinowitz, Yaron S.;
- Baird, Paul N.
Publication type:
journal article
PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-55866-5
By:
- Khaled, Mariam Lofty;
- Bykhovskaya, Yelena;
- Gu, Chunfang;
- Liu, Alice;
- Drewry, Michelle D.;
- Chen, Zhong;
- Mysona, Barbara A.;
- Parker, Emily;
- McNabb, Ryan P.;
- Yu, Hongfang;
- Lu, Xiaowen;
- Wang, Jing;
- Li, Xiaohui;
- Al-Muammar, Abdulrahman;
- Rotter, Jerome I.;
- Porter, Louise F.;
- Estes, Amy;
- Watsky, Mitchell A.;
- Smith, Sylvia B.;
- Xu, Hongyan
Publication type:
Article
A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.
Published in:
Human Molecular Genetics, 2012, v. 21, n. 2, p. 421, doi. 10.1093/hmg/ddr460
By:
- Li, Xiaohui;
- Bykhovskaya, Yelena;
- Haritunians, Talin;
- Siscovick, David;
- Aldave, Anthony;
- Szczotka-Flynn, Loretta;
- Iyengar, Sudha K.;
- Rotter, Jerome I.;
- Taylor, Kent D.;
- Rabinowitz, Yaron S.
Publication type:
Article
Mitochondrial Myopathy, Sideroblastic Anemia, and Lactic Acidosis: An Autosomal Recessive Syndrome in Persian Jews Caused by a Mutation in the PUS1 Gene.
Published in:
Journal of Child Neurology, 2005, v. 20, n. 5, p. 449, doi. 10.1177/08830738050200051301
By:
- Zeharia, Avraham;
- Fischel-Ghodsian, Nathan;
- Casas, Kari;
- Bykhovskaya, Yelena;
- Tamari, Hana;
- Lev, Dorit;
- Mimouni, Marc;
- Lerman-Sagie, Tally
Publication type:
Article
Genetics in Keratoconus: where are we?
Published in:
Eye & Vision, 2016, v. 3, p. 1, doi. 10.1186/s40662-016-0047-5
By:
- Bykhovskaya, Yelena;
- Margines, Benjamin;
- Rabinowitz, Yaron S.
Publication type:
Article

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