Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue RB Wilson, DM Roof Nature genetics 16 (4), 352-357, 1997 | 414 | 1997 |
Measuring Friedreich ataxia: interrater reliability of a neurologic rating scale SH Subramony, W May, D Lynch, C Gomez, K Fischbeck, M Hallett, ... Neurology 64 (7), 1261-1262, 2005 | 379 | 2005 |
Localization of BRCA1 and a splice variant identifies the nuclear localization signal S Thakur, HB Zhang, Y Peng, H Le, B Carroll, T Ward, J Yao, LM Farid, ... Molecular and cellular biology 17 (1), 444-452, 1997 | 331 | 1997 |
Genetic testing and risk assessment for spinal muscular atrophy (SMA) S Ogino, RB Wilson Human genetics 111, 477-500, 2002 | 262 | 2002 |
Genetic risk assessment in carrier testing for spinal muscular atrophy S Ogino, DGB Leonard, H Rennert, WJ Ewens, RB Wilson American journal of medical genetics 110 (4), 301-307, 2002 | 238 | 2002 |
Ethylene glycol poisoning: toxicokinetic and analytical factors affecting laboratory diagnosis AF Eder, CM McGrath, YG Dowdy, JE Tomaszewski, FM Rosenberg, ... Clinical Chemistry 44 (1), 168-177, 1998 | 226 | 1998 |
Spinal muscular atrophy: molecular genetics and diagnostics S Ogino, RB Wilson Expert review of molecular diagnostics 4 (1), 15-29, 2004 | 218 | 2004 |
Measuring Friedreich ataxia: complementary features of examination and performance measures DR Lynch, JM Farmer, AY Tsou, S Perlman, SH Subramony, CM Gomez, ... Neurology 66 (11), 1711-1716, 2006 | 211 | 2006 |
α-Synuclein–induced Aggregation of Cytoplasmic Vesicles in Saccharomyces cerevisiae JH Soper, S Roy, A Stieber, E Lee, RB Wilson, JQ Trojanowski, CG Burd, ... Molecular biology of the cell 19 (3), 1093-1103, 2008 | 191 | 2008 |
Genotype and haplotype distributions of MTHFR 677C> T and 1298A> C single nucleotide polymorphisms: a meta-analysis S Ogino, RB Wilson Journal of human genetics 48 (1), 1-7, 2003 | 187 | 2003 |
Repression of immunoglobulin enhancers by the helix-loop-helix protein Id: implications for B-lymphoid-cell development RB Wilson, M Kiledjian, CP Shen, R Benezra, P Zwollo, SM Dymecki, ... Molecular and cellular biology 11 (12), 6185-6191, 1991 | 185 | 1991 |
New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations S Ogino, RB Wilson, B Gold European journal of human genetics 12 (12), 1015-1023, 2004 | 180 | 2004 |
Standard mutation nomenclature in molecular diagnostics: practical and educational challenges S Ogino, ML Gulley, JT den Dunnen, RB Wilson, ... The Journal of molecular diagnostics 9 (1), 1-6, 2007 | 170 | 2007 |
Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy DR Lynch, JM Farmer, LJ Balcer, RB Wilson Archives of neurology 59 (5), 743-747, 2002 | 156 | 2002 |
Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design LS Friedman, JM Farmer, S Perlman, G Wilmot, CM Gomez, KO Bushara, ... Movement disorders 25 (4), 426-432, 2010 | 129 | 2010 |
Ferroptosis as a novel therapeutic target for Friedreich’s ataxia MG Cotticelli, S Xia, D Lin, T Lee, L Terrab, P Wipf, DM Huryn, RB Wilson Journal of Pharmacology and Experimental Therapeutics 369 (1), 47-54, 2019 | 125 | 2019 |
Detection of leukemia-associated MLL-GAS7 translocation early during chemotherapy with DNA topoisomerase II inhibitors MD Megonigal, NKV Cheung, EF Rappaport, PC Nowell, RB Wilson, ... Proceedings of the National Academy of Sciences 97 (6), 2814-2819, 2000 | 122 | 2000 |
Bayesian analysis and risk assessment in genetic counseling and testing S Ogino, RB Wilson The Journal of Molecular Diagnostics 6 (1), 1-9, 2004 | 119 | 2004 |
Insights into the role of oxidative stress in the pathology of Friedreich ataxia using peroxidation resistant polyunsaturated fatty acids MG Cotticelli, AM Crabbe, RB Wilson, MS Shchepinov Redox biology 1 (1), 398-404, 2013 | 96 | 2013 |
SRA5 encodes the low-Km cyclic AMP phosphodiesterase of Saccharomyces cerevisiae RB Wilson, K Tatchell Molecular and cellular biology, 1988 | 96 | 1988 |