O'Connor R - Search Results

1

Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines.

Neben CL, Zimmer AD, Stedden W, van den Akker J, O'Connor R, Chan RC, Chen E, Tan Z, Leon A, Ji J, Topper S, Zhou AY. Neben CL, et al. J Mol Diagn. 2019 Jul;21(4):646-657. doi: 10.1016/j.jmoldx.2019.03.001. Epub 2019 Jun 11. J Mol Diagn. 2019. PMID: 31201024 Free article.

2

Identification of a novel GREM1 duplication in a patient with multiple colon polyps.

McKenna DB, Van Den Akker J, Zhou AY, Ryan L, Leon A, O'Connor R, Shah PD, Rustgi AK, Katona BW. McKenna DB, et al. Fam Cancer. 2019 Jan;18(1):63-66. doi: 10.1007/s10689-018-0090-6. Fam Cancer. 2019. PMID: 29804199 Free PMC article.

3

Characterization of splice-altering mutations in inherited predisposition to cancer.

Casadei S, Gulsuner S, Shirts BH, Mandell JB, Kortbawi HM, Norquist BS, Swisher EM, Lee MK, Goldberg Y, O'Connor R, Tan Z, Pritchard CC, King MC, Walsh T. Casadei S, et al. Proc Natl Acad Sci U S A. 2019 Dec 26;116(52):26798-26807. doi: 10.1073/pnas.1915608116. Epub 2019 Dec 16. Proc Natl Acad Sci U S A. 2019. PMID: 31843900 Free PMC article.

4

LEAP: Using machine learning to support variant classification in a clinical setting.

Lai C, Zimmer AD, O'Connor R, Kim S, Chan R, van den Akker J, Zhou AY, Topper S, Mishne G. Lai C, et al. Hum Mutat. 2020 Jun;41(6):1079-1090. doi: 10.1002/humu.24011. Epub 2020 Apr 1. Hum Mutat. 2020. PMID: 32176384 Free PMC article.

5

Intronic Breakpoint Signatures Enhance Detection and Characterization of Clinically Relevant Germline Structural Variants.

van den Akker J, Hon L, Ondov A, Mahkovec Z, O'Connor R, Chan RC, Lock J, Zimmer AD, Rostamianfar A, Ginsberg J, Leon A, Topper S. van den Akker J, et al. J Mol Diagn. 2021 May;23(5):612-629. doi: 10.1016/j.jmoldx.2021.01.015. Epub 2021 Feb 20. J Mol Diagn. 2021. PMID: 33621668 Free article.

6

Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.

Fortuno C, Michailidou K, Parsons M, Dolinsky JS, Pesaran T, Yussuf A, Mester JL, Hruska KS, Hiraki S, O'Connor R, Chan RC, Kim S, Tavtigian SV, Goldgar D, James PA, Spurdle AB. Fortuno C, et al. Hum Mol Genet. 2024 Apr 8;33(8):724-732. doi: 10.1093/hmg/ddae009. Hum Mol Genet. 2024. PMID: 38271184

7

CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods.

Critical Assessment of Genome Interpretation Consortium. Critical Assessment of Genome Interpretation Consortium. Genome Biol. 2024 Feb 22;25(1):53. doi: 10.1186/s13059-023-03113-6. Genome Biol. 2024. PMID: 38389099 Free PMC article.

8

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.

Parsons MT, de la Hoya M, Richardson ME, Tudini E, Anderson M, Berkofsky-Fessler W, Caputo SM, Chan RC, Cline MS, Feng BJ, Fortuno C, Gomez-Garcia E, Hadler J, Hiraki S, Holdren M, Houdayer C, Hruska K, James P, Karam R, Leong HS, Martins A, Mensenkamp AR, Monteiro AN, Nathan V, O'Connor R, Pedersen IS, Pesaran T, Radice P, Schmidt G, Southey M, Tavtigian S, Thompson BA, Toland AE, Turnbull C, Vogel MJ, Weyandt J, Wiggins GAR, Zec L, Couch FJ, Walker LC, Vreeswijk MPG, Goldgar DE, Spurdle AB. Parsons MT, et al. Am J Hum Genet. 2024 Sep 5;111(9):2044-2058. doi: 10.1016/j.ajhg.2024.07.013. Epub 2024 Aug 13. Am J Hum Genet. 2024. PMID: 39142283

9

ClinVar database of global familial hypercholesterolemia-associated DNA variants.

Iacocca MA, Chora JR, Carrié A, Freiberger T, Leigh SE, Defesche JC, Kurtz CL, DiStefano MT, Santos RD, Humphries SE, Mata P, Jannes CE, Hooper AJ, Wilemon KA, Benlian P, O'Connor R, Garcia J, Wand H, Tichy L, Sijbrands EJ, Hegele RA, Bourbon M, Knowles JW; ClinGen FH Variant Curation Expert Panel. Iacocca MA, et al. Hum Mutat. 2018 Nov;39(11):1631-1640. doi: 10.1002/humu.23634. Hum Mutat. 2018. PMID: 30311388 Free PMC article.

10

Variation in reproductive photosynthetic compensation of distinct germplasm varieties of a native rangeland grass, Pseudoroegneria spicata, following floral defoliation.

Quigley KM, O'Connor RC, Monaco TA, Hamerlynck EP. Quigley KM, et al. Among authors: o connor rc. Conserv Physiol. 2024 Nov 19;12(1):coae078. doi: 10.1093/conphys/coae078. eCollection 2024. Conserv Physiol. 2024. PMID: 39563864 Free PMC article.

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