Published Research

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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

B73-Mo17 near-isogenic lines demonstrate dispersed structural variation in maize.

Eichten SR
, Foerster JM, de Leon N, Kai Y, Yeh C, Liu S, Jeddeloh JA, Schnable PS, Kaeppler SM, and Springer NM.
Plant physiology
 156 (4), 1679-1690.
Aug 2011
CGH/CNV

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

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.

Norton N
, Li D, Rieder MJ, Siegfried JD, Rampersaud E, Züchner S, Mangos S, Gonzalez-Quintana J, Wang L, McGee S, Reiser J, Martin E, Nickerson DA, and Hershberger RE.
American journal of human genetics
 88 (3), 273-282.
11 Mar 2011
Sequence Capture

CGH/CNV

Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia.

Vacic V
, McCarthy S, Malhotra D, Murray F, Chou H, Peoples A, Makarov V, Yoon S, Bhandari A, Corominas R, Iakoucheva L, Krastoshevsky O, Krause V, Larach-Walters V, Welsh D, Craig D, Kelsoe J, Gershon E, Leal S, Aquila MD, Morris D, Gill M, Corvin A, Insel P, McClellan J, King M, Karayiorgou M, Levy D, DeLisi L, and Sebat J.
Nature
 advance online publication (7339), 499-503.
23 Feb 2011
CGH/CNV

The composition and origins of genomic variation among individuals of the soybean reference cultivar Williams 82.

Haun WJ
, Hyten DL, Xu WW, Gerhardt DJ, Albert TJ, Richmond T, Jeddeloh JA, Jia G, Springer NM, Vance CP, and Stupar RM.
Plant physiology
 155 (2), 645-655.
Feb 2011
Sequence Capture

CGH/CNV

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.

Bachmann-Gagescu R
, Mefford HC, Cowan C, Glew GM, Hing AV, Wallace S, Bader PI, Hamati A, Reitnauer PJ, Smith R, Stockton DW, Muhle H, Helbig I, Eichler EE, Ballif BC, Rosenfeld J, and Tsuchiya KD.
Genetics in medicine : official journal of the American College of Medical Genetics
 12 (10), 641-647.
Oct 2010
CGH/CNV

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