Format
Sort by

Send to

Choose Destination

Search results

Items: 1 to 20 of 235

1.

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

Simon MT, Ng BG, Friederich MW, Wang RY, Boyer M, Kircher M, Collard R, Buckingham KJ, Chang R, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics., Van Hove JL, Freeze HH, Abdenur JE.

Mitochondrion. 2017 Feb 12. pii: S1567-7249(16)30190-8. doi: 10.1016/j.mito.2017.02.004. [Epub ahead of print]

PMID:
28216230
2.

Massively multiplex single-cell Hi-C.

Ramani V, Deng X, Qiu R, Gunderson KL, Steemers FJ, Disteche CM, Noble WS, Duan Z, Shendure J.

Nat Methods. 2017 Jan 30. doi: 10.1038/nmeth.4155. [Epub ahead of print]

PMID:
28135255
3.

BRCA Testing by Single-Molecule Molecular Inversion Probes.

Neveling K, Mensenkamp AR, Derks R, Kwint M, Ouchene H, Steehouwer M, van Lier B, Bosgoed E, Rikken A, Tychon M, Zafeiropoulou D, Castelein S, Hehir-Kwa J, Tjwan Thung D, Hofste T, Lelieveld SH, Bertens SM, Adan IB, Eijkelenboom A, Tops BB, Yntema H, Stokowy T, Knappskog PM, Høberg-Vetti H, Steen VM, Boyle E, Martin B, Ligtenberg MJ, Shendure J, Nelen MR, Hoischen A.

Clin Chem. 2017 Feb;63(2):503-512. doi: 10.1373/clinchem.2016.263897.

PMID:
27974384
4.

Genome sequencing in a case of Niemann-Pick type C.

Dougherty M, Lazar J, Klein JC, Diaz K, Gobillot T, Grunblatt E, Hasle N, Lawrence D, Maurano M, Nelson M, Olson G, Srivatsan S, Shendure J, Keene CD, Bird T, Horwitz MS, Marshall DA.

Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001222.

5.

A systematic comparison reveals substantial differences in chromosomal versus episomal encoding of enhancer activity.

Inoue F, Kircher M, Martin B, Cooper GM, Witten DM, McManus MT, Ahituv N, Shendure J.

Genome Res. 2017 Jan;27(1):38-52. doi: 10.1101/gr.212092.116.

PMID:
27831498
6.

Targeted Capture and High-Throughput Sequencing Using Molecular Inversion Probes (MIPs).

Cantsilieris S, Stessman HA, Shendure J, Eichler EE.

Methods Mol Biol. 2017;1492:95-106.

PMID:
27822858
7.

Classification and characterization of microsatellite instability across 18 cancer types.

Hause RJ, Pritchard CC, Shendure J, Salipante SJ.

Nat Med. 2016 Nov;22(11):1342-1350. doi: 10.1038/nm.4191.

PMID:
27694933
8.

Genome evolution in the allotetraploid frog Xenopus laevis.

Session AM, Uno Y, Kwon T, Chapman JA, Toyoda A, Takahashi S, Fukui A, Hikosaka A, Suzuki A, Kondo M, van Heeringen SJ, Quigley I, Heinz S, Ogino H, Ochi H, Hellsten U, Lyons JB, Simakov O, Putnam N, Stites J, Kuroki Y, Tanaka T, Michiue T, Watanabe M, Bogdanovic O, Lister R, Georgiou G, Paranjpe SS, van Kruijsbergen I, Shu S, Carlson J, Kinoshita T, Ohta Y, Mawaribuchi S, Jenkins J, Grimwood J, Schmutz J, Mitros T, Mozaffari SV, Suzuki Y, Haramoto Y, Yamamoto TS, Takagi C, Heald R, Miller K, Haudenschild C, Kitzman J, Nakayama T, Izutsu Y, Robert J, Fortriede J, Burns K, Lotay V, Karimi K, Yasuoka Y, Dichmann DS, Flajnik MF, Houston DW, Shendure J, DuPasquier L, Vize PD, Zorn AM, Ito M, Marcotte EM, Wallingford JB, Ito Y, Asashima M, Ueno N, Matsuda Y, Veenstra GJ, Fujiyama A, Harland RM, Taira M, Rokhsar DS.

Nature. 2016 Oct 20;538(7625):336-343. doi: 10.1038/nature19840.

PMID:
27762356
9.

Mapping 3D genome architecture through in situ DNase Hi-C.

Ramani V, Cusanovich DA, Hause RJ, Ma W, Qiu R, Deng X, Blau CA, Disteche CM, Noble WS, Shendure J, Duan Z.

Nat Protoc. 2016 Nov;11(11):2104-21. doi: 10.1038/nprot.2016.126.

PMID:
27685100
10.

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O'Connor BC, Keegan CE, Yin LJ, Lai AH, Martin N, McKinnon M, Addor MC, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Worgan L, Reggin J, Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Esch HV, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J Jr, Guerrini R, Dobyns WB.

JCI Insight. 2016 Jun 16;1(9). pii: e87623.

11.

The power of multiplexed functional analysis of genetic variants.

Gasperini M, Starita L, Shendure J.

Nat Protoc. 2016 Oct;11(10):1782-7. doi: 10.1038/nprot.2016.135.

PMID:
27583640
12.

Human genomics: A deep dive into genetic variation.

Shendure J.

Nature. 2016 Aug 18;536(7616):277-8. doi: 10.1038/536277a. No abstract available.

PMID:
27535530
13.

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.

Wheeler PG, Ng BG, Sanford L, Sutton VR, Bartholomew DW, Pastore MT, Bamshad MJ, Kircher M, Buckingham KJ, Nickerson DA, Shendure J, Freeze HH.

Am J Med Genet A. 2016 Dec;170(12):3165-3171. doi: 10.1002/ajmg.a.37875.

14.

Fragment Length of Circulating Tumor DNA.

Underhill HR, Kitzman JO, Hellwig S, Welker NC, Daza R, Baker DN, Gligorich KM, Rostomily RC, Bronner MP, Shendure J.

PLoS Genet. 2016 Jul 18;12(7):e1006162. doi: 10.1371/journal.pgen.1006162.

15.

Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.

Burnicka-Turek O, Steimle JD, Huang W, Felker L, Kamp A, Kweon J, Peterson M, Reeves RH, Maslen CL, Gruber PJ, Yang XH, Shendure J, Moskowitz IP.

Hum Mol Genet. 2016 Jul 15;25(14):3011-3028.

PMID:
27340223
16.

Massively Parallel Genetics.

Shendure J, Fields S.

Genetics. 2016 Jun;203(2):617-9. doi: 10.1534/genetics.115.180562.

PMID:
27270695
17.

Whole-organism lineage tracing by combinatorial and cumulative genome editing.

McKenna A, Findlay GM, Gagnon JA, Horwitz MS, Schier AF, Shendure J.

Science. 2016 Jul 29;353(6298):aaf7907. doi: 10.1126/science.aaf7907.

18.

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

Mirzaa GM, Campbell CD, Solovieff N, Goold CP, Jansen LA, Menon S, Timms AE, Conti V, Biag JD, Olds C, Boyle EA, Collins S, Ishak G, Poliachik SL, Girisha KM, Yeung KS, Chung BH, Rahikkala E, Gunter SA, McDaniel SS, Macmurdo CF, Bernstein JA, Martin B, Leary RJ, Mahan S, Liu S, Weaver M, Dorschner MO, Jhangiani S, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Shendure J, Saneto RP, Novotny EJ, Wilson CJ, Sellers WR, Morrissey MP, Hevner RF, Ojemann JG, Guerrini R, Murphy LO, Winckler W, Dobyns WB.

JAMA Neurol. 2016 Jul 1;73(7):836-45. doi: 10.1001/jamaneurol.2016.0363.

19.

Complex Minigene Library Vaccination for Discovery of Pre-Erythrocytic Plasmodium T Cell Antigens.

Stone BC, Kas A, Billman ZP, Fuller DH, Fuller JT, Shendure J, Murphy SC.

PLoS One. 2016 Apr 12;11(4):e0153449. doi: 10.1371/journal.pone.0153449.

20.

Long-read sequence assembly of the gorilla genome.

Gordon D, Huddleston J, Chaisson MJ, Hill CM, Kronenberg ZN, Munson KM, Malig M, Raja A, Fiddes I, Hillier LW, Dunn C, Baker C, Armstrong J, Diekhans M, Paten B, Shendure J, Wilson RK, Haussler D, Chin CS, Eichler EE.

Science. 2016 Apr 1;352(6281):aae0344. doi: 10.1126/science.aae0344.

Items per page

Supplemental Content

Support Center