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Page 1
Retrotransposons Are the Major Contributors to the Expansion of the Drosophila ananassae Muller F Element.
Leung W, Shaffer CD, Chen EJ, Quisenberry TJ, Ko K, Braverman JM, Giarla TC, Mortimer NT, Reed LK, Smith ST, Robic S, McCartha SR, Perry DR, Prescod LM, Sheppard ZA, Saville KJ, McClish A, Morlock EA, Sochor VR, Stanton B, Veysey-White IC, Revie D, Jimenez LA, Palomino JJ, Patao MD, Patao SM, Himelblau ET, Campbell JD, Hertz AL, McEvilly MF, Wagner AR, Youngblom J, Bedi B, Bettincourt J, Duso E, Her M, Hilton W, House S, Karimi M, Kumimoto K, Lee R, Lopez D, Odisho G, Prasad R, Robbins HL, Sandhu T, Selfridge T, Tsukashima K, Yosif H, Kokan NP, Britt L, Zoellner A, Spana EP, Chlebina BT, Chong I, Friedman H, Mammo DA, Ng CL, Nikam VS, Schwartz NU, Xu TQ, Burg MG, Batten SM, Corbeill LM, Enoch E, Ensign JJ, Franks ME, Haiker B, Ingles JA, Kirkland LD, Lorenz-Guertin JM, Matthews J, Mittig CM, Monsma N, Olson KJ, Perez-Aragon G, Ramic A, Ramirez JR, Scheiber C, Schneider PA, Schultz DE, Simon M, Spencer E, Wernette AC, Wykle ME, Zavala-Arellano E, McDonald MJ, Ostby K, Wendland P, DiAngelo JR, Ceasrine AM, Cox AH, Docherty JEB, Gingras RM, Grieb SM, Pavia MJ, Personius CL, Polak GL, Beach DL, Cerritos HL, Horansky EA, Sharif KA, Moran R, Parrish S, Bickford K, Bland J, Broussard J, … See abstract for full author list ➔ Leung W, et al. Among authors: vives lt. G3 (Bethesda). 2017 Aug 7;7(8):2439-2460. doi: 10.1534/g3.117.040907. G3 (Bethesda). 2017. PMID: 28667019 Free PMC article.
A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk.
Antonacci F, Kidd JM, Marques-Bonet T, Teague B, Ventura M, Girirajan S, Alkan C, Campbell CD, Vives L, Malig M, Rosenfeld JA, Ballif BC, Shaffer LG, Graves TA, Wilson RK, Schwartz DC, Eichler EE. Antonacci F, et al. Nat Genet. 2010 Sep;42(9):745-50. doi: 10.1038/ng.643. Epub 2010 Aug 22. Nat Genet. 2010. PMID: 20729854 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. Nat Genet. 2012 Jul 1;44(8):872-80. doi: 10.1038/ng.2335. Nat Genet. 2012. PMID: 22751100 Free PMC article.
Excess of rare, inherited truncating mutations in autism.
Krumm N, Turner TN, Baker C, Vives L, Mohajeri K, Witherspoon K, Raja A, Coe BP, Stessman HA, He ZX, Leal SM, Bernier R, Eichler EE. Krumm N, et al. Nat Genet. 2015 Jun;47(6):582-8. doi: 10.1038/ng.3303. Epub 2015 May 11. Nat Genet. 2015. PMID: 25961944 Free PMC article.
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE. O'Roak BJ, et al. Nature. 2012 Apr 4;485(7397):246-50. doi: 10.1038/nature10989. Nature. 2012. PMID: 22495309 Free PMC article.
Palindromic GOLGA8 core duplicons promote chromosome 15q13.3 microdeletion and evolutionary instability.
Antonacci F, Dennis MY, Huddleston J, Sudmant PH, Steinberg KM, Rosenfeld JA, Miroballo M, Graves TA, Vives L, Malig M, Denman L, Raja A, Stuart A, Tang J, Munson B, Shaffer LG, Amemiya CT, Wilson RK, Eichler EE. Antonacci F, et al. Nat Genet. 2014 Dec;46(12):1293-302. doi: 10.1038/ng.3120. Epub 2014 Oct 19. Nat Genet. 2014. PMID: 25326701 Free PMC article.
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Girirajan S, Brkanac Z, Coe BP, Baker C, Vives L, Vu TH, Shafer N, Bernier R, Ferrero GB, Silengo M, Warren ST, Moreno CS, Fichera M, Romano C, Raskind WH, Eichler EE. Girirajan S, et al. PLoS Genet. 2011 Nov;7(11):e1002334. doi: 10.1371/journal.pgen.1002334. Epub 2011 Nov 10. PLoS Genet. 2011. PMID: 22102821 Free PMC article.
27 results