Lerner-Ellis J - Search Results

1

A model for the return and referral of all clinically significant secondary findings of genomic sequencing.

Kodida R, Reble E, Clausen M, Shickh S, Mighton C, Sam J, Forster N, Panchal S, Aronson M, Semotiuk K, Graham T, Silberman Y, Randall Armel S, McCuaig JM, Cohn I, Morel CF, Elser C, Eisen A, Carroll JC, Glogowski E, Schrader KA, Di Gioacchino V, Lerner-Ellis J, Kim RH, Bombard Y; Incidental Genomics Study Team. Kodida R, et al. J Med Genet. 2023 Aug;60(8):733-739. doi: 10.1136/jmg-2022-109091. Epub 2023 May 22. J Med Genet. 2023. PMID: 37217257 Review.

2

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

3

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

4

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.

5

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.

6

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

7

Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications.

Gowrisankar S, Lerner-Ellis JP, Cox S, White ET, Manion M, LeVan K, Liu J, Farwell LM, Iartchouk O, Rehm HL, Funke BH. Gowrisankar S, et al. J Mol Diagn. 2010 Nov;12(6):818-27. doi: 10.2353/jmoldx.2010.100014. Epub 2010 Sep 23. J Mol Diagn. 2010. PMID: 20864638 Free PMC article.

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

Identification of a novel MSH6 germline variant in a family with multiple gastro-intestinal malignancies by next generation sequencing.

Connor AA, Katzov-Eckert H, Whelan T, Aronson M, Lau L, Marshall C, Charames GS, Pollett A, Gallinger S, Lerner-Ellis J. Connor AA, et al. Fam Cancer. 2015 Mar;14(1):69-75. doi: 10.1007/s10689-014-9765-9. Fam Cancer. 2015. PMID: 25380764

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