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Items: 8

1.

Longitudinal report of child with de novo 16p11.2 triplication.

Wallace AS, Hudac CM, Steinman KJ, Peterson JL, DesChamps TD, Duyzend MH, Nuttle X, Eichler EE, Bernier RA.

Clin Case Rep. 2017 Dec 6;6(1):147-154. doi: 10.1002/ccr3.1236. eCollection 2018 Jan.

2.

The evolution and population diversity of human-specific segmental duplications.

Dennis MY, Harshman L, Nelson BJ, Penn O, Cantsilieris S, Huddleston J, Antonacci F, Penewit K, Denman L, Raja A, Baker C, Mark K, Malig M, Janke N, Espinoza C, Stessman HAF, Nuttle X, Hoekzema K, Lindsay-Graves TA, Wilson RK, Eichler EE.

Nat Ecol Evol. 2017;1(3):69. doi: 10.1038/s41559-016-0069. Epub 2017 Feb 17.

3.

The birth of a human-specific neural gene by incomplete duplication and gene fusion.

Dougherty ML, Nuttle X, Penn O, Nelson BJ, Huddleston J, Baker C, Harshman L, Duyzend MH, Ventura M, Antonacci F, Sandstrom R, Dennis MY, Eichler EE.

Genome Biol. 2017 Mar 9;18(1):49. doi: 10.1186/s13059-017-1163-9.

4.

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.

Nature. 2016 Aug 11;536(7615):205-9. Epub 2016 Aug 3.

5.

Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.

Duyzend MH, Nuttle X, Coe BP, Baker C, Nickerson DA, Bernier R, Eichler EE.

Am J Hum Genet. 2016 Jan 7;98(1):45-57. doi: 10.1016/j.ajhg.2015.11.017. Epub 2015 Dec 31.

6.

Resolving genomic disorder-associated breakpoints within segmental DNA duplications using massively parallel sequencing.

Nuttle X, Itsara A, Shendure J, Eichler EE.

Nat Protoc. 2014;9(6):1496-513. doi: 10.1038/nprot.2014.096. Epub 2014 May 29.

7.

Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions.

Nuttle X, Huddleston J, O'Roak BJ, Antonacci F, Fichera M, Romano C, Shendure J, Eichler EE.

Nat Methods. 2013 Sep;10(9):903-9. doi: 10.1038/nmeth.2572. Epub 2013 Jul 28.

8.

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.

Cell. 2012 May 11;149(4):912-22. doi: 10.1016/j.cell.2012.03.033. Epub 2012 May 3.

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