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Items: 5

1.

Noninvasive Detection of Microsatellite Instability and High Tumor Mutation Burden in Cancer Patients Treated with PD-1 Blockade.

Georgiadis A, Durham JN, Keefer LA, Bartlett BR, Zielonka M, Murphy D, White JR, Lu S, Verner EL, Ruan F, Riley D, Anders RA, Gedvilaite E, Angiuoli S, Jones S, Velculescu VE, Le DT, Diaz LA Jr, Sausen M.

Clin Cancer Res. 2019 Sep 10. doi: 10.1158/1078-0432.CCR-19-1372. [Epub ahead of print]

PMID:
31506389
2.

Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.

Wang N, Zhang Y, Gedvilaite E, Loh JW, Lin T, Liu X, Liu CG, Kumar D, Donnelly R, Raymond K, Schuchman EH, Sleat DE, Lobel P, Xing J.

Hum Mutat. 2017 Nov;38(11):1491-1499. doi: 10.1002/humu.23291. Epub 2017 Jul 25.

PMID:
28703315
3.

Extremely low-coverage whole genome sequencing in South Asians captures population genomics information.

Rustagi N, Zhou A, Watkins WS, Gedvilaite E, Wang S, Ramesh N, Muzny D, Gibbs RA, Jorde LB, Yu F, Xing J.

BMC Genomics. 2017 May 22;18(1):396. doi: 10.1186/s12864-017-3767-6.

4.

A Rare Variant in CACNA1D Segregates with 7 Bipolar I Disorder Cases in a Large Pedigree.

Ross J, Gedvilaite E, Badner JA, Erdman C, Baird L, Matsunami N, Leppert M, Xing J, Byerley W.

Mol Neuropsychiatry. 2016 Oct;2(3):145-150. Epub 2016 Aug 3.

5.

Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis.

Sleat DE, Gedvilaite E, Zhang Y, Lobel P, Xing J.

Gene. 2016 Nov 30;593(2):284-91. doi: 10.1016/j.gene.2016.08.031. Epub 2016 Aug 20.

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