| The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene RE Tanzi, K Petrukhin, I Chernov, JL Pellequer, W Wasco, B Ross, ... Nature genetics 5 (4), 344-350, 1993 | 1671 | 1993 |
| Identification of the gene responsible for Best macular dystrophy K Petrukhin, MJ Koisti, B Bakall, W Li, G Xie, T Marknell, O Sandgren, ... Nature genetics 19 (3), 241-247, 1998 | 792 | 1998 |
| Mapping, cloning and genetic characterization of the region containing the Wilson disease gene K Petrukhin, SG Fischer, M Pirastu, RE Tanzi, I Chernov, M Devoto, ... Nature genetics 5 (4), 338-343, 1993 | 616 | 1993 |
| A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy K Zhang, M Kniazeva, M Han, W Li, Z Yu, Z Yang, Y Li, ML Metzker, ... Nature genetics 27 (1), 89-93, 2001 | 522 | 2001 |
| Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium AD Marmorstein, LY Marmorstein, M Rayborn, X Wang, JG Hollyfield, ... Proceedings of the National Academy of Sciences 97 (23), 12758-12763, 2000 | 520 | 2000 |
| Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses AB Shah, I Chernov, HT Zhang, BM Ross, K Das, S Lutsenko, E Parano, ... The American Journal of Human Genetics 61 (2), 317-328, 1997 | 456 | 1997 |
| Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions K Petrukhin, S Lutsenko, I Chernov, BM Ross, JH Kaplan, TC Gilliam Human Molecular Genetics 3 (9), 1647-1656, 1994 | 424 | 1994 |
| N-terminal domains of human copper-transporting adenosine triphosphatases (the Wilson's and Menkes disease proteins) bind copper selectively in vivo and in vitro with … S Lutsenko, K Petrukhin, MJ Cooper, CT Gilliam, JH Kaplan Journal of Biological Chemistry 272 (30), 18939-18944, 1997 | 316 | 1997 |
| Linkage of Tunisian autosomal recessive Duchenne–like muscular dystrophy to the pericentromeric region of chromosome 13q K Ben Othmane, M Ben Hamida, MA Pericak-Vance, C Ben Hamida, ... Nature genetics 2 (4), 315-317, 1992 | 250 | 1992 |
| Pig kidney Na+, K+-ATPase: primary structure and spatial organization YA Ovchinnikov, NN Modyanov, NE Broude, KE Petrukhin, AV Grishin, ... FEBS letters 201 (2), 237-245, 1986 | 234 | 1986 |
| Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene PS Bernstein, J Tammur, N Singh, A Hutchinson, M Dixon, CM Pappas, ... Investigative Ophthalmology & Visual Science 42 (13), 3331-3336, 2001 | 189 | 2001 |
| Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies R Allikmets, JM Seddon, PS Bernstein, A Hutchinson, A Atkinson, ... Human genetics 104, 449-453, 1999 | 189 | 1999 |
| Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments XL YANG, N MIURA, Y KAWARADA, K TERADA, K PETRUKHIN, ... Biochemical Journal 326 (3), 897-902, 1997 | 130 | 1997 |
| The mutation spectrum of the bestrophin protein–functional implications B Bakall, T Marknell, S Ingvast, MJ Koisti, O Sandgren, W Li, AAB Bergen, ... Human genetics 104, 383-389, 1999 | 124 | 1999 |
| Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull’s-eye … JM Seddon, MA Afshari, S Sharma, PS Bernstein, S Chong, A Hutchinson, ... Ophthalmology 108 (11), 2060-2067, 2001 | 122 | 2001 |
| New therapeutic targets in atrophic age-related macular degeneration K Petrukhin Expert Opinion on Therapeutic Targets 11 (5), 625-639, 2007 | 106 | 2007 |
| The family of human Na+, K+‐ATPase genes No less than five genes and/or pseudogenes related to the α‐subunit ED Sverdlov, GS Monastyrskaya, NE Broude, YA Ushkaryov, RL Allikmets, ... FEBS letters 217 (2), 275-278, 1987 | 101 | 1987 |
| A1120, a nonretinoid RBP4 antagonist, inhibits formation of cytotoxic bisretinoids in the animal model of enhanced retinal lipofuscinogenesis N Dobri, Q Qin, J Kong, K Yamamoto, Z Liu, G Moiseyev, J Ma, ... Investigative ophthalmology & visual science 54 (1), 85-95, 2013 | 90 | 2013 |
| A microsatellite genetic linkage map of human chromosome 13 KE Petrukhin, MC Speer, E Cayanis, M de Fátima Bonaldo, U Tantravahi, ... Genomics 15 (1), 76-85, 1993 | 75 | 1993 |
| 4-phenylpiperidines, their preparation and use K Petrukhin, C Cioffi, G Johnson, N Dobri, E Freeman, P Chen, M Conlon, ... US Patent 10,273,243, 2019 | 73 | 2019 |
