Lerner-Ellis J - Search Results

1

Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.

Mighton C, Smith AC, Mayers J, Tomaszewski R, Taylor S, Hume S, Agatep R, Spriggs E, Feilotter HE, Semenuk L, Wong H, Lazo de la Vega L, Marshall CR, Axford MM, Silver T, Charames GS, Di Gioacchino V, Watkins N, Foulkes WD, Clavier M, Hamel N, Chong G, Lamont RE, Parboosingh J, Karsan A, Bosdet I, Young SS, Tucker T, Akbari MR, Speevak MD, Vaags AK, Lebo MS, Lerner-Ellis J; Canadian Open Genetics Repository Working Group. Mighton C, et al. J Med Genet. 2022 Jun;59(6):571-578. doi: 10.1136/jmedgenet-2021-107738. Epub 2021 Apr 19. J Med Genet. 2022. PMID: 33875564 Free PMC article.

2

Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria.

Dobson CM, Wai T, Leclerc D, Kadir H, Narang M, Lerner-Ellis JP, Hudson TJ, Rosenblatt DS, Gravel RA. Dobson CM, et al. Hum Mol Genet. 2002 Dec 15;11(26):3361-9. doi: 10.1093/hmg/11.26.3361. Hum Mol Genet. 2002. PMID: 12471062

3

Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

Lerner-Ellis JP, Dobson CM, Wai T, Watkins D, Tirone JC, Leclerc D, Doré C, Lepage P, Gravel RA, Rosenblatt DS. Lerner-Ellis JP, et al. Hum Mutat. 2004 Dec;24(6):509-16. doi: 10.1002/humu.20104. Hum Mutat. 2004. PMID: 15523652

4

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.

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, Shoubridge EA, Coulton JW, Lepage P, Rommens JM, Morgan K, Rosenblatt DS. Lerner-Ellis JP, et al. Nat Genet. 2006 Jan;38(1):93-100. doi: 10.1038/ng1683. Epub 2005 Nov 27. Nat Genet. 2006. PMID: 16311595

5

Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria.

Lerner-Ellis JP, Gradinger AB, Watkins D, Tirone JC, Villeneuve A, Dobson CM, Montpetit A, Lepage P, Gravel RA, Rosenblatt DS. Lerner-Ellis JP, et al. Mol Genet Metab. 2006 Mar;87(3):219-25. doi: 10.1016/j.ymgme.2005.11.011. Epub 2006 Jan 10. Mol Genet Metab. 2006. PMID: 16410054

6

Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism.

Zhang J, Dobson CM, Wu X, Lerner-Ellis J, Rosenblatt DS, Gravel RA. Zhang J, et al. Mol Genet Metab. 2006 Apr;87(4):315-22. doi: 10.1016/j.ymgme.2005.12.003. Epub 2006 Jan 24. Mol Genet Metab. 2006. PMID: 16439175

7

Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria.

Dobson CM, Gradinger A, Longo N, Wu X, Leclerc D, Lerner-Ellis J, Lemieux M, Belair C, Watkins D, Rosenblatt DS, Gravel RA. Dobson CM, et al. Mol Genet Metab. 2006 Aug;88(4):327-33. doi: 10.1016/j.ymgme.2006.03.009. Epub 2006 May 11. Mol Genet Metab. 2006. PMID: 16697227

8

Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.

Morel CF, Lerner-Ellis JP, Rosenblatt DS. Morel CF, et al. Mol Genet Metab. 2006 Aug;88(4):315-21. doi: 10.1016/j.ymgme.2006.04.001. Epub 2006 May 22. Mol Genet Metab. 2006. PMID: 16714133

9

Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.

Tsai AC, Morel CF, Scharer G, Yang M, Lerner-Ellis JP, Rosenblatt DS, Thomas JA. Tsai AC, et al. Am J Med Genet A. 2007 Oct 15;143A(20):2430-4. doi: 10.1002/ajmg.a.31932. Am J Med Genet A. 2007. PMID: 17853453

10

Gene identification for the cblD defect of vitamin B12 metabolism.

Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B. Coelho D, et al. N Engl J Med. 2008 Apr 3;358(14):1454-64. doi: 10.1056/NEJMoa072200. N Engl J Med. 2008. PMID: 18385497 Free article.

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