Lerner-Ellis J - Search Results

1

Genome screening, reporting, and genetic counseling for healthy populations.

Casalino S, Frangione E, Chung M, MacDonald G, Chowdhary S, Mighton C, Faghfoury H, Bombard Y, Strug L, Pugh TJ, Simpson J, Arnoldo S, Aujla N, Bearss E, Binnie A, Borgundvaag B, Chertkow H, Clausen M, Dagher M, Devine L, Di Iorio D, Friedman SM, Fung CYJ, Gingras AC, Goneau LW, Kaushik D, Khan Z, Lapadula E, Lu T, Mazzulli T, McGeer A, McLeod SL, Morgan G, Richardson D, Singh H, Stern S, Taher A, Wong I, Zarei N, Greenfeld E, Hao L, Lebo M, Lane W, Noor A, Taher J, Lerner-Ellis J. Casalino S, et al. Hum Genet. 2023 Feb;142(2):181-192. doi: 10.1007/s00439-022-02480-7. Epub 2022 Nov 4. Hum Genet. 2023. PMID: 36331656 Free PMC article.

2

Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase.

Demirbas D, Harris DJ, Arn PH, Huang X, Waisbren SE, Anselm I, Lerner-Ellis JP, Wong LJ, Levy HL, Berry GT. Demirbas D, et al. JIMD Rep. 2019 Mar 14;46(1):63-69. doi: 10.1002/jmd2.12018. eCollection 2019 Mar. JIMD Rep. 2019. PMID: 31240156 Free PMC article.

3

Epigenetic modification of the gene for the vitamin B(12) chaperone MMACHC can result in increased tumorigenicity and methionine dependence.

Loewy AD, Niles KM, Anastasio N, Watkins D, Lavoie J, Lerner-Ellis JP, Pastinen T, Trasler JM, Rosenblatt DS. Loewy AD, et al. Mol Genet Metab. 2009 Apr;96(4):261-7. doi: 10.1016/j.ymgme.2008.12.011. Epub 2009 Feb 5. Mol Genet Metab. 2009. PMID: 19200761

4

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

5

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.

6

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

7

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

8

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

9

BCOR Internal Tandem Duplication Associated Uterine Sarcoma: Expanding the Clinicopathologic Spectrum.

Thiryayi SA, Ettler H, Goebel EA, Prefontaine M, Paton TA, Wong A, Yee D, Agro E, Mayers J, Lerner-Ellis J, Turashvili G. Thiryayi SA, et al. Int J Gynecol Pathol. 2022 Sep 1;41(5):503-507. doi: 10.1097/PGP.0000000000000822. Epub 2021 Aug 30. Int J Gynecol Pathol. 2022. PMID: 34456278

10

Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations.

Lerner-Ellis J, Wang M, White S, Lebo MS; Canadian Open Genetics Repository Group. Lerner-Ellis J, et al. J Med Genet. 2015 Jul;52(7):438-45. doi: 10.1136/jmedgenet-2014-102933. Epub 2015 Apr 22. J Med Genet. 2015. PMID: 25904639 Free PMC article.

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