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A novel GUSB mutation in Brazilian terriers with severe skeletal abnormalities defines the disease as mucopolysaccharidosis VII.
Hytönen MK , et al., Arumilli M, Lappalainen AK, Kallio H, Snellman M, Sainio K, and Lohi H. hide all 
PloS one 7 (7), e40281. | 2012 | Sequence Capture
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Exome sequencing generates high quality data in non-target regions.
Guo Y , et al., Long J, He J, Cai Q, Shu X, Zheng W, and Li C. hide all
BMC Genomics 13 (1), 194. | 2012 | Sequence Capture
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Identification of genetic risk variants for deep vein thrombosis by multiplexed next-generation sequencing of 186 hemostatic/pro-inflammatory genes.
Lotta LA , et al., Wang M, Yu J, Martinelli I, Yu F, Passamonti SM, Consonni D, Pappalardo E, Menegatti M, Scherer SE, Lewis LL, Akbar H, Wu Y, Bainbridge MN, Muzny DM, Mannucci PM, Gibbs RA, and Peyvandi F. hide all
BMC medical genomics 5, 7. | 2012 | Sequence Capture
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Library preparation and multiplex capture for massive parallel sequencing applications made efficient and easy.
Neiman M , et al., Sundling S, Grönberg H, Hall P, Czene K, Lindberg J, and Klevebring D. hide all
PloS one 7 (11), e48616. | 2012 | Sequence Capture
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Validation of genome-wide intervertebral disk calcification associations in dachshund and further investigation of the chromosome 12 susceptibility locus.
Mogensen MS , et al., Scheibye-Alsing K, Karlskov-Mortensen P, Proschowsky HF, Jensen VF, Bak M, Tommerup N, Kadarmideen HN, and Fredholm M. hide all
Frontiers in genetics 3, 225. | 2012 | Sequence Capture
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Genome-wide association study identified three major QTL for carcass weight including the PLAG1-CHCHD7 QTN for stature in Japanese Black cattle.
Nishimura S , et al., Watanabe T, Mizoshita K, Tatsuda K, Fujita T, Watanabe N, Sugimoto Y, and Takasuga A. hide all
BMC genetics 13, 40. | 2012 | Sequence Capture
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A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family.
Liu T , et al., Jin X, Zhang X, Yuan H, Cheng J, Lee J, Zhang B, Zhang M, Wu J, Wang L, Tian G, and Wang W. hide all
PloS one 7 (9), e45464. | 2012 | Sequence Capture
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Molecular evidence for the bi-clonal origin of neuroendocrine tumor derived metastases.
Rinner B , et al., Gallè B, Trajanoski S, Fischer C, Hatz M, Maierhofer T, Michelitsch G, Moinfar F, Stelzer I, Pfragner R, and Guelly C. hide all
BMC genomics 13, 594. | 2012 | Sequence Capture
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Nubp1 is required for lung branching morphogenesis and distal progenitor cell survival in mice.
Schnatwinkel C , and Niswander L.
PloS one 7 (9), e44871. | 2012 | Sequence Capture
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Multiple regression methods show great potential for rare variant association tests.
Xu C , et al., Ladouceur M, Dastani Z, Richards JB, Ciampi A, and Greenwood CMT. hide all
PloS one 7 (8), e41694. | 2012 | Sequence Capture
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