| Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus Y Lu, V Vitart, KP Burdon, CC Khor, Y Bykhovskaya, A Mirshahi, ... Nature genetics 45 (2), 155-163, 2013 | 356 | 2013 |
| Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA) Y Bykhovskaya, K Casas, E Mengesha, A Inbal, N Fischel-Ghodsian The American Journal of Human Genetics 74 (6), 1303-1308, 2004 | 344 | 2004 |
| Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations MX Guan, Q Yan, X Li, Y Bykhovskaya, J Gallo-Teran, P Hajek, N Umeda, ... The American Journal of Human Genetics 79 (2), 291-302, 2006 | 267 | 2006 |
| Inherited susceptibility to aminoglycoside ototoxicity: genetic heterogeneity and clinical implications RAMS Casano, DF Johnson, Y Bykhovskaya, F Torricelli, M Bigozzi, ... American journal of otolaryngology 20 (3), 151-156, 1999 | 199 | 1999 |
| Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness KB Sevior, A Hatamochi, IA Stewart, Y Bykhovskaya, DR Allen‐Powell, ... American journal of medical genetics 75 (2), 179-185, 1998 | 197 | 1998 |
| A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice KR Johnson, Q Y Zheng, Y Bykhovskaya, O Spirina, N Fischel-Ghodsian Nature genetics 27 (2), 191-194, 2001 | 180 | 2001 |
| Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation JR Patton, Y Bykhovskaya, E Mengesha, C Bertolotto, ... Journal of Biological Chemistry 280 (20), 19823-19828, 2005 | 161 | 2005 |
| Variation in the lysyl oxidase (LOX) gene is associated with keratoconus in family-based and case-control studies Y Bykhovskaya, X Li, I Epifantseva, T Haritunians, D Siscovick, A Aldave, ... Investigative ophthalmology & visual science 53 (7), 4152-4157, 2012 | 156 | 2012 |
| Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus KP Burdon, S Macgregor, Y Bykhovskaya, S Javadiyan, X Li, KJ Laurie, ... Investigative ophthalmology & visual science 52 (11), 8514-8519, 2011 | 151 | 2011 |
| Candidate locus for a nuclear modifier gene for maternally inherited deafness Y Bykhovskaya, X Estivill, K Taylor, T Hang, M Hamon, RAMS Casano, ... The American Journal of Human Genetics 66 (6), 1905-1910, 2000 | 135 | 2000 |
| A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries X Li, Y Bykhovskaya, T Haritunians, D Siscovick, A Aldave, ... Human molecular genetics 21 (2), 421-429, 2012 | 134 | 2012 |
| Temporal bone analysis of patients with presbycusis reveals high frequency of mitochondrial mutations N Fischel-Ghodsian, Y Bykhovskaya, K Taylor, T Kahen, R Cantor, ... Hearing research 110 (1-2), 147-154, 1997 | 133 | 1997 |
| Genetics in Keratoconus: where are we? Y Bykhovskaya, B Margines, YS Rabinowitz Eye and Vision 3, 1-10, 2016 | 121 | 2016 |
| Hearing loss due to the mitochondrial A1555G mutation in Italian families RAMS Casano, Y Bykhovskaya, DF Johnson, M Hamon, F Torricelli, ... American journal of medical genetics 79 (5), 388-391, 1998 | 112 | 1998 |
| Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation Y Bykhovskaya, M Shohat, K Ehrenman, D Johnson, M Hamon, ... American journal of medical genetics 77 (5), 421-426, 1998 | 110 | 1998 |
| Genetic association of COL5A1 variants in keratoconus patients suggests a complex connection between corneal thinning and keratoconus X Li, Y Bykhovskaya, ALC Canedo, T Haritunians, D Siscovick, AJ Aldave, ... Investigative ophthalmology & visual science 54 (4), 2696-2704, 2013 | 106 | 2013 |
| Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation Y Bykhovskaya, E Mengesha, D Wang, H Yang, X Estivill, M Shohat, ... Molecular Genetics and Metabolism 82 (1), 27-32, 2004 | 103 | 2004 |
| Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases AI Iglesias, A Mishra, V Vitart, Y Bykhovskaya, R Höhn, H Springelkamp, ... Nature communications 9 (1), 1864, 2018 | 88 | 2018 |
| Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene A Zeharia, N Fischel-Ghodsian, K Casas, Y Bykhovskaya, H Tamari, ... Journal of child neurology 20 (5), 449-452, 2005 | 88 | 2005 |
| Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3 Y Bykhovskaya, E Mengesha, D Wang, H Yang, X Estivill, M Shohat, ... Molecular genetics and metabolism 83 (3), 199-206, 2004 | 86 | 2004 |
