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Page 1
Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.
Nuttle X, Giannuzzi G, Duyzend MH, Schraiber JG, Narvaiza I, Sudmant PH, Penn O, Chiatante G, Malig M, Huddleston J, Benner C, Camponeschi F, Ciofi-Baffoni S, Stessman HA, Marchetto MC, Denman L, Harshman L, Baker C, Raja A, Penewit K, Janke N, Tang WJ, Ventura M, Banci L, Antonacci F, Akey JM, Amemiya CT, Gage FH, Reymond A, Eichler EE. Nuttle X, et al. Among authors: sudmant ph. Nature. 2016 Aug 11;536(7615):205-9. doi: 10.1038/nature19075. Epub 2016 Aug 3. Nature. 2016. PMID: 27487209 Free PMC article.
Diversity of human copy number variation and multicopy genes.
Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project; Eichler EE. Sudmant PH, et al. Science. 2010 Oct 29;330(6004):641-6. doi: 10.1126/science.1197005. Science. 2010. PMID: 21030649 Free PMC article.
Haplotype-resolved genome sequencing of a Gujarati Indian individual.
Kitzman JO, Mackenzie AP, Adey A, Hiatt JB, Patwardhan RP, Sudmant PH, Ng SB, Alkan C, Qiu R, Eichler EE, Shendure J. Kitzman JO, et al. Among authors: sudmant ph. Nat Biotechnol. 2011 Jan;29(1):59-63. doi: 10.1038/nbt.1740. Epub 2010 Dec 19. Nat Biotechnol. 2011. PMID: 21170042 Free PMC article.
Mapping copy number variation by population-scale genome sequencing.
Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang S, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HY, Leng J, Li R, Li Y, Lin CY, Luo R, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi X, Stromberg MP, Stütz AM, Urban AE, Walker JA, Wu J, Zhang Y, Zhang ZD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Ye K, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, Korbel JO; 1000 Genomes Project. Mills RE, et al. Nature. 2011 Feb 3;470(7332):59-65. doi: 10.1038/nature09708. Nature. 2011. PMID: 21293372 Free PMC article.
Population-genetic properties of differentiated human copy-number polymorphisms.
Campbell CD, Sampas N, Tsalenko A, Sudmant PH, Kidd JM, Malig M, Vu TH, Vives L, Tsang P, Bruhn L, Eichler EE. Campbell CD, et al. Among authors: sudmant ph. Am J Hum Genet. 2011 Mar 11;88(3):317-32. doi: 10.1016/j.ajhg.2011.02.004. Am J Hum Genet. 2011. PMID: 21397061 Free PMC article.
Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication.
Dennis MY, Nuttle X, Sudmant PH, Antonacci F, Graves TA, Nefedov M, Rosenfeld JA, Sajjadian S, Malig M, Kotkiewicz H, Curry CJ, Shafer S, Shaffer LG, de Jong PJ, Wilson RK, Eichler EE. Dennis MY, et al. Among authors: sudmant ph. Cell. 2012 May 11;149(4):912-22. doi: 10.1016/j.cell.2012.03.033. Epub 2012 May 3. Cell. 2012. PMID: 22559943 Free PMC article.
Copy number variation detection and genotyping from exome sequence data.
Krumm N, Sudmant PH, Ko A, O'Roak BJ, Malig M, Coe BP; NHLBI Exome Sequencing Project; Quinlan AR, Nickerson DA, Eichler EE. Krumm N, et al. Among authors: sudmant ph. Genome Res. 2012 Aug;22(8):1525-32. doi: 10.1101/gr.138115.112. Epub 2012 May 14. Genome Res. 2012. PMID: 22585873 Free PMC article.
Structural diversity and African origin of the 17q21.31 inversion polymorphism.
Steinberg KM, Antonacci F, Sudmant PH, Kidd JM, Campbell CD, Vives L, Malig M, Scheinfeldt L, Beggs W, Ibrahim M, Lema G, Nyambo TB, Omar SA, Bodo JM, Froment A, Donnelly MP, Kidd KK, Tishkoff SA, Eichler EE. Steinberg KM, et al. Among authors: sudmant ph. Nat Genet. 2012 Jul 1;44(8):872-80. doi: 10.1038/ng.2335. Nat Genet. 2012. PMID: 22751100 Free PMC article.
Estimating the human mutation rate using autozygosity in a founder population.
Campbell CD, Chong JX, Malig M, Ko A, Dumont BL, Han L, Vives L, O'Roak BJ, Sudmant PH, Shendure J, Abney M, Ober C, Eichler EE. Campbell CD, et al. Among authors: sudmant ph. Nat Genet. 2012 Nov;44(11):1277-81. doi: 10.1038/ng.2418. Epub 2012 Sep 23. Nat Genet. 2012. PMID: 23001126 Free PMC article.
77 results