Lebo M - Search Results

1

Genome Reporting for Healthy Populations-Pipeline for Genomic Screening from the GENCOV COVID-19 Study.

Frangione E, Chung M, Casalino S, MacDonald G, Chowdhary S, Mighton C, Faghfoury H, Bombard Y, Strug L, Pugh T, Simpson J, Hao L, Lebo M, Lane WJ, Taher J, Lerner-Ellis J; GENCOV Study Workgroup. Frangione E, et al. Among authors: lebo m. Curr Protoc. 2022 Oct;2(10):e534. doi: 10.1002/cpz1.534. Curr Protoc. 2022. PMID: 36205462 Free PMC article.

2

Distinct rates of VUS reclassification are observed when subclassifying VUS by evidence level.

Bennett G, Karbassi I, Chen W, Harrison SM, Lebo MS, Meng L, Nagan N, Rigobello R, Rehm HL. Bennett G, et al. Among authors: lebo ms. medRxiv [Preprint]. 2024 Nov 13:2024.11.13.24317242. doi: 10.1101/2024.11.13.24317242. medRxiv. 2024. PMID: 39606344 Free PMC article. Preprint.

3

Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.

Jordan DM, Kiezun A, Baxter SM, Agarwala V, Green RC, Murray MF, Pugh T, Lebo MS, Rehm HL, Funke BH, Sunyaev SR. Jordan DM, et al. Among authors: lebo ms. Am J Hum Genet. 2011 Feb 11;88(2):183-92. doi: 10.1016/j.ajhg.2011.01.011. Am J Hum Genet. 2011. PMID: 21310275 Free PMC article.

4

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS. Duzkale H, et al. Among authors: lebo ms. Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257. Clin Genet. 2013. PMID: 24033266 Free PMC article.

5

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH. Pugh TJ, et al. Among authors: lebo m. Genet Med. 2014 Aug;16(8):601-8. doi: 10.1038/gim.2013.204. Epub 2014 Feb 6. Genet Med. 2014. PMID: 24503780 Free article.

6

Summarizing polygenic risks for complex diseases in a clinical whole-genome report.

Kong SW, Lee IH, Leshchiner I, Krier J, Kraft P, Rehm HL, Green RC, Kohane IS, MacRae CA; MedSeq Project. Kong SW, et al. Genet Med. 2015 Jul;17(7):536-44. doi: 10.1038/gim.2014.143. Epub 2014 Oct 23. Genet Med. 2015. PMID: 25341114 Free PMC article.

7

A systematic approach to the reporting of medically relevant findings from whole genome sequencing.

McLaughlin HM, Ceyhan-Birsoy O, Christensen KD, Kohane IS, Krier J, Lane WJ, Lautenbach D, Lebo MS, Machini K, MacRae CA, Azzariti DR, Murray MF, Seidman CE, Vassy JL, Green RC, Rehm HL; MedSeq Project. McLaughlin HM, et al. Among authors: lebo ms. BMC Med Genet. 2014 Dec 14;15:134. doi: 10.1186/s12881-014-0134-1. BMC Med Genet. 2014. PMID: 25714468 Free PMC article.

8

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. Among authors: lebo ms. 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.

9

Comprehensive red blood cell and platelet antigen prediction from whole genome sequencing: proof of principle.

Lane WJ, Westhoff CM, Uy JM, Aguad M, Smeland-Wagman R, Kaufman RM, Rehm HL, Green RC, Silberstein LE; MedSeq Project. Lane WJ, et al. Transfusion. 2016 Mar;56(3):743-54. doi: 10.1111/trf.13416. Epub 2015 Dec 3. Transfusion. 2016. PMID: 26634332 Free PMC article.

10

VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.

Pugh TJ, Amr SS, Bowser MJ, Gowrisankar S, Hynes E, Mahanta LM, Rehm HL, Funke B, Lebo MS. Pugh TJ, et al. Among authors: lebo ms. Genet Med. 2016 Jul;18(7):712-9. doi: 10.1038/gim.2015.156. Epub 2015 Dec 17. Genet Med. 2016. PMID: 26681316 Free PMC article.

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