| Year |
Citation |
Score |
| 2013 |
Padmanabhan N, Jia D, Geary-Joo C, Wu X, Ferguson-Smith AC, Fung E, Bieda MC, Snyder FF, Gravel RA, Cross JC, Watson ED. Mutation in folate metabolism causes epigenetic instability and transgenerational effects on development. Cell. 155: 81-93. PMID 24074862 DOI: 10.1016/j.cell.2013.09.002 |
0.349 |
|
| 2010 |
Froese DS, Gravel RA. Genetic disorders of vitamin B₁₂ metabolism: eight complementation groups--eight genes. Expert Reviews in Molecular Medicine. 12: e37. PMID 21114891 DOI: 10.1017/S1462399410001651 |
0.315 |
|
| 2010 |
Lehotay D, Fitterer B, Antonishyn N, Gravel R, Casey R. 80. A novel mutation in the HEX B gene causing infantile Sandhoff disease: A high throughput semi-automated method for genetic screening of newborns Molecular Genetics and Metabolism. 99. DOI: 10.1016/J.Ymgme.2009.10.097 |
0.42 |
|
| 2009 |
Froese DS, Dobson CM, White AP, Wu X, Padovani D, Banerjee R, Haller T, Gerlt JA, Surette MG, Gravel RA. Sleeping beauty mutase (sbm) is expressed and interacts with ygfd in Escherichia coli Microbiological Research. 164: 1-8. PMID 18950999 DOI: 10.1016/J.Micres.2008.08.006 |
0.373 |
|
| 2008 |
Pérez-Monjaras A, Cervantes-Roldán R, Meneses-Morales I, Gravel RA, Reyes-Carmona S, Solórzano-Vargas S, González-Noriega A, León-Del-Río A. Impaired biotinidase activity disrupts holocarboxylase synthetase expression in late onset multiple carboxylase deficiency. The Journal of Biological Chemistry. 283: 34150-8. PMID 18845537 DOI: 10.1074/jbc.M806985200 |
0.316 |
|
| 2006 |
Dobson CM, Gradinger A, Longo N, Wu X, Leclerc D, Lerner-Ellis J, Lemieux M, Belair C, Watkins D, Rosenblatt DS, Gravel RA. Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. Molecular Genetics and Metabolism. 88: 327-33. PMID 16697227 DOI: 10.1016/j.ymgme.2006.03.009 |
0.541 |
|
| 2006 |
Zhang J, Dobson CM, Wu X, Lerner-Ellis J, Rosenblatt DS, Gravel RA. Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism. Molecular Genetics and Metabolism. 87: 315-22. PMID 16439175 DOI: 10.1016/j.ymgme.2005.12.003 |
0.523 |
|
| 2006 |
Lerner-Ellis JP, Gradinger AB, Watkins D, Tirone JC, Villeneuve A, Dobson CM, Montpetit A, Lepage P, Gravel RA, Rosenblatt DS. Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria. Molecular Genetics and Metabolism. 87: 219-25. PMID 16410054 DOI: 10.1016/J.Ymgme.2005.11.011 |
0.542 |
|
| 2006 |
Lerner-Ellis JP, Tirone JC, Pawelek PD, Doré C, Atkinson JL, Watkins D, Morel CF, Fujiwara TM, Moras E, Hosack AR, Dunbar GV, Antonicka H, Forgetta V, Dobson CM, Leclerc D, ... Gravel RA, et al. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. Nature Genetics. 38: 93-100. PMID 16311595 DOI: 10.1038/Ng1683 |
0.493 |
|
| 2004 |
Lerner-Ellis JP, Dobson CM, Wai T, Watkins D, Tirone JC, Leclerc D, Doré C, Lepage P, Gravel RA, Rosenblatt DS. Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. Human Mutation. 24: 509-16. PMID 15523652 DOI: 10.1002/humu.20104 |
0.54 |
|
| 2003 |
Jacques PF, Bostom AG, Selhub J, Rich S, Ellison RC, Eckfeldt JH, Gravel RA, Rozen R. Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study. Atherosclerosis. 166: 49-55. PMID 12482550 DOI: 10.1016/S0021-9150(02)00204-6 |
0.326 |
|
| 2002 |
Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA. Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. Human Molecular Genetics. 11: 3361-9. PMID 12471062 DOI: 10.1093/hmg/11.26.3361 |
0.566 |
|
| 2002 |
Dobson CM, Wai T, Leclerc D, Wilson A, Wu X, Doré C, Hudson T, Rosenblatt DS, Gravel RA. Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. Proceedings of the National Academy of Sciences of the United States of America. 99: 15554-9. PMID 12438653 DOI: 10.1073/Pnas.242614799 |
0.513 |
|
| 2002 |
Watkins D, Ru M, Hwang HY, Kim CD, Murray A, Philip NS, Kim W, Legakis H, Wai T, Hilton JF, Ge B, Doré C, Hosack A, Wilson A, Gravel RA, et al. Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. American Journal of Human Genetics. 71: 143-53. PMID 12068375 DOI: 10.1086/341354 |
0.48 |
|
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