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2006 3
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2008 1
2011 3
2024 0

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Page 1
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.
Pinto D, Darvishi K, Shi X, Rajan D, Rigler D, Fitzgerald T, Lionel AC, Thiruvahindrapuram B, Macdonald JR, Mills R, Prasad A, Noonan K, Gribble S, Prigmore E, Donahoe PK, Smith RS, Park JH, Hurles ME, Carter NP, Lee C, Scherer SW, Feuk L. Pinto D, et al. Nat Biotechnol. 2011 May 8;29(6):512-20. doi: 10.1038/nbt.1852. Nat Biotechnol. 2011. PMID: 21552272 Free PMC article.
FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation.
Koumbaris G, Hatzisevastou-Loukidou H, Alexandrou A, Ioannides M, Christodoulou C, Fitzgerald T, Rajan D, Clayton S, Kitsiou-Tzeli S, Vermeesch JR, Skordis N, Antoniou P, Kurg A, Georgiou I, Carter NP, Patsalis PC. Koumbaris G, et al. Hum Mol Genet. 2011 May 15;20(10):1925-36. doi: 10.1093/hmg/ddr074. Epub 2011 Feb 24. Hum Mol Genet. 2011. PMID: 21349920 Free PMC article.
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia.
Nik-Zainal S, Strick R, Storer M, Huang N, Rad R, Willatt L, Fitzgerald T, Martin V, Sandford R, Carter NP, Janecke AR, Renner SP, Oppelt PG, Oppelt P, Schulze C, Brucker S, Hurles M, Beckmann MW, Strissel PL, Shaw-Smith C. Nik-Zainal S, et al. J Med Genet. 2011 Mar;48(3):197-204. doi: 10.1136/jmg.2010.082412. Epub 2011 Jan 28. J Med Genet. 2011. PMID: 21278390 Free PMC article.
Completing the map of human genetic variation.
Human Genome Structural Variation Working Group; Eichler EE, Nickerson DA, Altshuler D, Bowcock AM, Brooks LD, Carter NP, Church DM, Felsenfeld A, Guyer M, Lee C, Lupski JR, Mullikin JC, Pritchard JK, Sebat J, Sherry ST, Smith D, Valle D, Waterston RH. Human Genome Structural Variation Working Group, et al. Nature. 2007 May 10;447(7141):161-5. doi: 10.1038/447161a. Nature. 2007. PMID: 17495918 Free PMC article. No abstract available.
13 results