Published Research

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Performance comparison of exome DNA sequencing technologies.

Clark MJ
, Chen R, Lam HYK, Karczewski KJ, Chen R, Euskirchen G, Butte AJ, and Snyder M.
Nature biotechnology
 , -.
25 Sep 2011
Sequence Capture

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.

Liu P
, Erez A, Nagamani SCS, Dhar SU, Kołodziejska KE, Dharmadhikari AV, Cooper ML, Wiszniewska J, Zhang F, Withers MA, Bacino CA, Campos-Acevedo LD, Delgado MR, Freedenberg D, Garnica A, Grebe TA, Hernández-Almaguer D, Immken L, Lalani SR, McLean SD, Northrup H, Scaglia F, Strathearn L, Trapane P, Kang SL, Patel A, Cheung SW, Hastings PJ, Stankiewicz P, Lupski JR, and Bi W.
Cell
 146 (6), 889-903.
16 Sep 2011
CGH/CNV

STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

van de Veerdonk FL
, Plantinga TS, Hoischen A, Smeekens SP, Joosten LAB, Gilissen C, Arts P, Rosentul DC, Carmichael AJ, Smits-van der Graaf CAA, Kullberg BJ, van der Meer JWM, Lilic D, Veltman JA, and Netea MG.
The New England journal of medicine
 365 (1), 54-61.
7 Jul 2011
Sequence Capture

Exome Sequencing Reveals Comprehensive Genomic Alterations across Eight Cancer Cell Lines.

Chang H
, Jackson D, Kayne P, Ross-MacDonald P, Ryseck R, and Siemers N.
PloS one
 6 (6), e21097.
20 Jun 2011
Sequence Capture

Rare de novo and transmitted copy-number variation in autistic spectrum disorders.

Levy D
, Ronemus M, Yamrom B, Lee Y, Leotta A, Kendall J, Marks S, Lakshmi B, Pai D, Ye K, Buja A, Krieger A, Yoon S, Troge J, Rodgers L, Iossifov I, and Wigler M.
Neuron
 70 (5), 886-897.
9 Jun 2011
CGH/CNV

Comparative genomics of Escherichia coli strains causing urinary tract infections.

Vejborg RM
, Hancock V, Schembri MA, and Klemm P.
Applied and environmental microbiology
 77 (10), 3268-3278.
May 2011
CGH/CNV

Complex X chromosome rearrangement delineated by array comparative genome hybridization in a woman with premature ovarian insufficiency.

Ochalski ME
, Engle N, Wakim A, Ravnan BJ, Hoffner L, Rajkovic A, and Surti U.
Fertility and sterility
 , -.
28 Apr 2011
CGH/CNV

Performance assessment of copy number microarray platforms using a spike-in experiment

Halper-Stromberg E
, Frelin L, Ruczinski I, Scharpf R, Jie C, Carvalho B, Hao H, Hetrick K, Jedlicka A, Dziedzic A, Doheny K, Scott A, Baylin S, Pevsner J, Spencer F, and Irizarry R.
Bioinformatics
 27 (8), -.
15 Apr 2011
CGH/CNV

Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia.

Yan X
, Xu J, Gu Z, Pan C, Lu G, Shen Y, Shi J, Zhu Y, Tang L, Zhang X, Liang W, Mi J, Song H, Li K, Chen Z, and Chen S.
Nature Genetics
 43 (4), 309-315.
13 Mar 2011
Sequence Capture

DNA Methylation

Whole-Exome Re-Sequencing in a Family Quartet Identifies POP1 Mutations As the Cause of a Novel Skeletal Dysplasia.

Glazov EA
, Zankl A, Donskoi M, Kenna TJ, Thomas GP, Clark GR, Duncan EL, and Brown MA.
PLoS genetics
 7 (3), e1002027.
Mar 2011
Sequence Capture

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