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Published Research

Roche NimbleGen array technology has helped power the research behind 100+ peer-reviewed publications. Search our publication list to learn more about our technology and the science it supports.

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Telomere dysfunction and fusion during the progression of chronic lymphocytic leukaemia

Lin TT
, Letsolo BT, Jones RE, Rowson J, Pratt G, Hewamana S, Fegan C, Pepper C, and Baird DM.
Blood
 , -.
10 Jun 2010
CGH/CNV

Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements

Whibley A
, Urquhart J, Dore J, Willatt L, Parkin G, Gaunt L, Black G, Donnai D, and Raymond FL.
Eur J Hum Genet
 , -.
19 May 2010
CGH/CNV

Copy number variation in the bovine genome.

Fadista J
, Thomsen B, Holm L, and Bendixen C.
BMC Genomics
 11 (1), 284.
6 May 2010
CGH/CNV

Distinct high resolution genome profiles of early onset and late onset colorectal cancer integrated with gene expression data identify candidate susceptibility loci.

Berg M
, Agesen TH, Thiis-Evensen E, Infac IG, Merok MA, Teixeira MR, Vatn MH, Nesbakken A, Skotheim RI, and Lothe RA.
Molecular cancer
 9 (1), 100.
6 May 2010
CGH/CNV

Analysis of copy number variations among diverse cattle breeds

Liu G
, Hou Y, Zhu B, Cardone M, Jiang L, Cellamare A, Mitra A, Alexander L, Coutinho L, Dell'Aquila M, Gasbarre L, Lacalandra G, Li R, Matukumalli L, Nonneman D, Regitano LCdA, Smith T, Song J, Sonstegard T, van Tassell C, Ventura M, Eichler E, McDaneld T, and Keele J.
Genome Res.
 20 (5), 693-703.
May 2010
CGH/CNV

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs

Conrad D
, Bird C, Blackburne B, Lindsay S, Mamanova L, Lee C, Turner D, and Hurles M.
Nat Genet
 advance online publication (5), 385-391.
4 Apr 2010
CGH/CNV

Initial Genomics of the Human Nucleolus

Németh A
, Conesa A, Santoyo-Lopez J, Medina I, Montaner D, Péterfia B, Solovei I, Cremer T, Dopazo J, and Längs G.
PLoS Genet
 6 (3), e1000889.
26 Mar 2010
CGH/CNV

Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79.

Rehman AU
, Morell RJ, Belyantseva IA, Khan SY, Boger ET, Shahzad M, Ahmed ZM, Riazuddin S, Khan SN, Riazuddin S, and Friedman TB.
American journal of human genetics
 86 (3), 378-388.
12 Mar 2010
Sequence Capture

Repeat subtraction-mediated sequence capture from a complex genome.

Fu Y
, Springer NM, Gerhardt DJ, Ying K, Yeh C, Wu W, Swanson-Wagner R, D'Ascenzo M, Millard T, Freeberg L, Aoyama N, Kitzman J, Burgess D, Richmond T, Albert TJ, Barbazuk WB, Jeddeloh JA, and Schnable PS.
The Plant journal : for cell and molecular biology
 , -.
4 Mar 2010
Sequence Capture

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

Nikopoulos K
, Gilissen C, Hoischen A, van Nouhuys CE, Boonstra FN, Blokland EAW, Arts P, Wieskamp N, Strom TM, Ayuso C, Tilanus MAD, Bouwhuis S, Mukhopadhyay A, Scheffer H, Hoefsloot LH, Veltman JA, Cremers FPM, and Collin RWJ.
American journal of human genetics
 86 (2), 240-247.
12 Feb 2010
Sequence Capture