Lerner-Ellis J - Search Results

1

Great expectations: patients' preferences for clinically significant results from genomic sequencing.

Shickh S, Sebastian A, Clausen M, Mighton C, Elser C, Eisen A, Waldman L, Panchal S, Ward T, Carroll JC, Glogowski E, Schrader KA, Lerner-Ellis J, Kim RH, Thorpe KE, Bombard Y; Incidental Genomics Team members to be indexed in PubMed. Shickh S, et al. Hum Genet. 2023 Apr;142(4):553-562. doi: 10.1007/s00439-023-02543-3. Epub 2023 Mar 21. Hum Genet. 2023. PMID: 36943453

2

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.

3

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.

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

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

6

Tumor BRCA Testing in High Grade Serous Carcinoma: Mutation Rates and Optimal Tissue Requirements.

Turashvili G, Lazaro C, Ying S, Charames G, Wong A, Hamilton K, Yee D, Agro E, Chang M, Pollett A, Lerner-Ellis J. Turashvili G, et al. Cancers (Basel). 2020 Nov 21;12(11):3468. doi: 10.3390/cancers12113468. Cancers (Basel). 2020. PMID: 33233347 Free PMC article.

7

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

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

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

10

Genetic testing for BRCA1 and BRCA2 in the Province of Ontario.

Finch A, Wang M, Fine A, Atri L, Khalouei S, Pupavac M, Rosen B, Eisen A, Elser C, Charames G, Metcalfe K, Chang MC, Narod SA, Lerner-Ellis J. Finch A, et al. Clin Genet. 2016 Mar;89(3):304-11. doi: 10.1111/cge.12647. Epub 2015 Aug 31. Clin Genet. 2016. PMID: 26219728

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