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Items: 8

1.

Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.

Kaseniit KE, Collins E, Lo C, Moyer K, Mar-Heyming R, Kang HP, Muzzey D.

Clin Genet. 2019 Sep;96(3):236-245. doi: 10.1111/cge.13582. Epub 2019 Jul 1.

PMID:
31170325
2.

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group.

Genet Med. 2019 Jun 4. doi: 10.1038/s41436-019-0535-9. [Epub ahead of print]

PMID:
31160754
3.

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.

Harrison SM, Dolinksy JS, Chen W, Collins CD, Das S, Deignan JL, Garber KB, Garcia J, Jarinova O, Knight Johnson AE, Koskenvuo JW, Lee H, Mao R, Mar-Heyming R, McFaddin AS, Moyer K, Nagan N, Rentas S, Santani AB, Seppälä EH, Shirts BH, Tidwell T, Topper S, Vincent LM, Vinette K, Rehm HL; ClinGen Sequence Variant Inter-Laboratory Discrepancy Resolution Working Group.

Hum Mutat. 2018 Nov;39(11):1641-1649. doi: 10.1002/humu.23643.

PMID:
30311378
4.

Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification.

Hogan GJ, Vysotskaia VS, Beauchamp KA, Seisenberger S, Grauman PV, Haas KR, Hong SH, Jeon D, Kash S, Lai HH, Melroy LM, Theilmann MR, Chu CS, Iori K, Maguire JR, Evans EA, Haque IS, Mar-Heyming R, Kang HP, Muzzey D.

Clin Chem. 2018 Jul;64(7):1063-1073. doi: 10.1373/clinchem.2018.286823. Epub 2018 May 14.

5.

Systematic design and comparison of expanded carrier screening panels.

Beauchamp KA, Muzzey D, Wong KK, Hogan GJ, Karimi K, Candille SI, Mehta N, Mar-Heyming R, Kaseniit KE, Kang HP, Evans EA, Goldberg JD, Lazarin GA, Haque IS.

Genet Med. 2018 Jan;20(1):55-63. doi: 10.1038/gim.2017.69. Epub 2017 Jun 22.

6.

Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing.

Kang HP, Maguire JR, Chu CS, Haque IS, Lai H, Mar-Heyming R, Ready K, Vysotskaia VS, Evans EA.

PeerJ. 2016 Jun 28;4:e2162. doi: 10.7717/peerj.2162. eCollection 2016.

7.

Upstream transcription factor 1 influences plasma lipid and metabolic traits in mice.

Wu S, Mar-Heyming R, Dugum EZ, Kolaitis NA, Qi H, Pajukanta P, Castellani LW, Lusis AJ, Drake TA.

Hum Mol Genet. 2010 Feb 15;19(4):597-608. doi: 10.1093/hmg/ddp526. Epub 2009 Dec 8.

8.

Association of stearoyl-CoA desaturase 1 activity with familial combined hyperlipidemia.

Mar-Heyming R, Miyazaki M, Weissglas-Volkov D, Kolaitis NA, Sadaat N, Plaisier C, Pajukanta P, Cantor RM, de Bruin TW, Ntambi JM, Lusis AJ.

Arterioscler Thromb Vasc Biol. 2008 Jun;28(6):1193-9. doi: 10.1161/ATVBAHA.107.160150. Epub 2008 Mar 13.

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