Zhou AY - 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. Among authors: zhou ay. 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

Inherited predisposition to breast and ovarian cancer in non-Jewish populations in Israel.

Zidan J, Zhou AY, van den Akker J, Laitman Y, Schayek H, Schnaider J, Friedman E. Zidan J, et al. Among authors: zhou ay. Breast Cancer Res Treat. 2017 Dec;166(3):881-885. doi: 10.1007/s10549-017-4474-3. Epub 2017 Aug 21. Breast Cancer Res Treat. 2017. PMID: 28828701

3

A machine learning model to determine the accuracy of variant calls in capture-based next generation sequencing.

van den Akker J, Mishne G, Zimmer AD, Zhou AY. van den Akker J, et al. Among authors: zhou ay. BMC Genomics. 2018 Apr 17;19(1):263. doi: 10.1186/s12864-018-4659-0. BMC Genomics. 2018. PMID: 29665779 Free PMC article.

4

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. Among authors: zhou ay. Fam Cancer. 2019 Jan;18(1):63-66. doi: 10.1007/s10689-018-0090-6. Fam Cancer. 2019. PMID: 29804199 Free PMC article.

5

Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative.

Caswell-Jin JL, Zimmer AD, Stedden W, Kingham KE, Zhou AY, Kurian AW. Caswell-Jin JL, et al. Among authors: zhou ay. J Natl Cancer Inst. 2019 Jan 1;111(1):95-98. doi: 10.1093/jnci/djy147. J Natl Cancer Inst. 2019. PMID: 30239769 Free PMC article.

6

Rare TP53 variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi family.

AlHarbi M, Mubarak N, AlMubarak L, Aljelaify R, AlSaeed M, Almutairi A, AlJabarat W, Alqubaishi F, Al-Subaie L, AlTassan N, Neben CL, Zhou AY, Abedalthagafi M. AlHarbi M, et al. Among authors: zhou ay. NPJ Genom Med. 2018 Dec 19;3:35. doi: 10.1038/s41525-018-0074-3. eCollection 2018. NPJ Genom Med. 2018. PMID: 30588330 Free PMC article.

7

A scalable, aggregated genotypic-phenotypic database for human disease variation.

Barrett R, Neben CL, Zimmer AD, Mishne G, McKennon W, Zhou AY, Ginsberg J. Barrett R, et al. Among authors: zhou ay. Database (Oxford). 2019 Jan 1;2019:baz013. doi: 10.1093/database/baz013. Database (Oxford). 2019. PMID: 30759220 Free PMC article.

8

Low coverage whole genome sequencing enables accurate assessment of common variants and calculation of genome-wide polygenic scores.

Homburger JR, Neben CL, Mishne G, Zhou AY, Kathiresan S, Khera AV. Homburger JR, et al. Among authors: zhou ay. Genome Med. 2019 Nov 26;11(1):74. doi: 10.1186/s13073-019-0682-2. Genome Med. 2019. PMID: 31771638 Free PMC article.

9

Patient acceptance of genetic testing for familial hypercholesterolemia in the CASCADE FH Registry.

Gidding SS, Sheldon A, Neben CL, Williams HE, Law S, Zhou AY, Wilemon K, Ahmed CD, Kindt I. Gidding SS, et al. Among authors: zhou ay. J Clin Lipidol. 2020 Mar-Apr;14(2):218-223.e2. doi: 10.1016/j.jacl.2020.02.001. Epub 2020 Feb 11. J Clin Lipidol. 2020. PMID: 32143996

10

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. Among authors: zhou ay. 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.

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