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Items: 1 to 20 of 27

1.

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Fang Q, George AS, Brinkmeier ML, Mortensen AH, Gergics P, Cheung LY, Daly AZ, Ajmal A, Pérez Millán MI, Ozel AB, Kitzman JO, Mills RE, Li JZ, Camper SA.

Endocr Rev. 2016 Dec;37(6):636-675.

PMID:
27828722
2.

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.

3.

Haplotypes drop by drop.

Kitzman JO.

Nat Biotechnol. 2016 Mar;34(3):296-8. doi: 10.1038/nbt.3500. No abstract available.

PMID:
26963554
4.

An essential cell cycle regulation gene causes hybrid inviability in Drosophila.

Phadnis N, Baker EP, Cooper JC, Frizzell KA, Hsieh E, de la Cruz AF, Shendure J, Kitzman JO, Malik HS.

Science. 2015 Dec 18;350(6267):1552-5. doi: 10.1126/science.aac7504.

5.
6.

Whole genome prediction for preimplantation genetic diagnosis.

Kumar A, Ryan A, Kitzman JO, Wemmer N, Snyder MW, Sigurjonsson S, Lee C, Banjevic M, Zarutskie PW, Lewis AP, Shendure J, Rabinowitz M.

Genome Med. 2015 Apr 8;7(1):35. doi: 10.1186/s13073-015-0160-4.

7.

Haplotype-resolved genome sequencing: experimental methods and applications.

Snyder MW, Adey A, Kitzman JO, Shendure J.

Nat Rev Genet. 2015 Jun;16(6):344-58. doi: 10.1038/nrg3903. Review.

PMID:
25948246
8.

Copy-number variation and false positive prenatal aneuploidy screening results.

Snyder MW, Simmons LE, Kitzman JO, Coe BP, Henson JM, Daza RM, Eichler EE, Shendure J, Gammill HS.

N Engl J Med. 2015 Apr 23;372(17):1639-45. doi: 10.1056/NEJMoa1408408.

9.

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.

Starita LM, Young DL, Islam M, Kitzman JO, Gullingsrud J, Hause RJ, Fowler DM, Parvin JD, Shendure J, Fields S.

Genetics. 2015 Jun;200(2):413-22. doi: 10.1534/genetics.115.175802.

10.

Deep sequencing of multiple regions of glial tumors reveals spatial heterogeneity for mutations in clinically relevant genes.

Kumar A, Boyle EA, Tokita M, Mikheev AM, Sanger MC, Girard E, Silber JR, Gonzalez-Cuyar LF, Hiatt JB, Adey A, Lee C, Kitzman JO, Born DE, Silbergeld DL, Olson JM, Rostomily RC, Shendure J.

Genome Biol. 2014 Dec 3;15(12):530. doi: 10.1186/s13059-014-0530-z.

11.

Massively parallel single-amino-acid mutagenesis.

Kitzman JO, Starita LM, Lo RS, Fields S, Shendure J.

Nat Methods. 2015 Mar;12(3):203-6, 4 p following 206. doi: 10.1038/nmeth.3223.

12.

Large-scale genomic sequencing of extraintestinal pathogenic Escherichia coli strains.

Salipante SJ, Roach DJ, Kitzman JO, Snyder MW, Stackhouse B, Butler-Wu SM, Lee C, Cookson BT, Shendure J.

Genome Res. 2015 Jan;25(1):119-28. doi: 10.1101/gr.180190.114.

13.

In vitro, long-range sequence information for de novo genome assembly via transposase contiguity.

Adey A, Kitzman JO, Burton JN, Daza R, Kumar A, Christiansen L, Ronaghi M, Amini S, Gunderson KL, Steemers FJ, Shendure J.

Genome Res. 2014 Dec;24(12):2041-9. doi: 10.1101/gr.178319.114.

14.

Haplotype-resolved whole-genome sequencing by contiguity-preserving transposition and combinatorial indexing.

Amini S, Pushkarev D, Christiansen L, Kostem E, Royce T, Turk C, Pignatelli N, Adey A, Kitzman JO, Vijayan K, Ronaghi M, Shendure J, Gunderson KL, Steemers FJ.

Nat Genet. 2014 Dec;46(12):1343-9. doi: 10.1038/ng.3119.

15.

Adaptive gene amplification as an intermediate step in the expansion of virus host range.

Brennan G, Kitzman JO, Rothenburg S, Shendure J, Geballe AP.

PLoS Pathog. 2014 Mar 13;10(3):e1004002. doi: 10.1371/journal.ppat.1004002.

16.

The complete genome sequence of a Neanderthal from the Altai Mountains.

Prüfer K, Racimo F, Patterson N, Jay F, Sankararaman S, Sawyer S, Heinze A, Renaud G, Sudmant PH, de Filippo C, Li H, Mallick S, Dannemann M, Fu Q, Kircher M, Kuhlwilm M, Lachmann M, Meyer M, Ongyerth M, Siebauer M, Theunert C, Tandon A, Moorjani P, Pickrell J, Mullikin JC, Vohr SH, Green RE, Hellmann I, Johnson PL, Blanche H, Cann H, Kitzman JO, Shendure J, Eichler EE, Lein ES, Bakken TE, Golovanova LV, Doronichev VB, Shunkov MV, Derevianko AP, Viola B, Slatkin M, Reich D, Kelso J, Pääbo S.

Nature. 2014 Jan 2;505(7481):43-9. doi: 10.1038/nature12886.

17.

Chromosome-scale scaffolding of de novo genome assemblies based on chromatin interactions.

Burton JN, Adey A, Patwardhan RP, Qiu R, Kitzman JO, Shendure J.

Nat Biotechnol. 2013 Dec;31(12):1119-25. doi: 10.1038/nbt.2727.

18.

The haplotype-resolved genome and epigenome of the aneuploid HeLa cancer cell line.

Adey A, Burton JN, Kitzman JO, Hiatt JB, Lewis AP, Martin BK, Qiu R, Lee C, Shendure J.

Nature. 2013 Aug 8;500(7461):207-11. doi: 10.1038/nature12064.

19.

Assemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species.

Bradnam KR, Fass JN, Alexandrov A, Baranay P, Bechner M, Birol I, Boisvert S, Chapman JA, Chapuis G, Chikhi R, Chitsaz H, Chou WC, Corbeil J, Del Fabbro C, Docking TR, Durbin R, Earl D, Emrich S, Fedotov P, Fonseca NA, Ganapathy G, Gibbs RA, Gnerre S, Godzaridis E, Goldstein S, Haimel M, Hall G, Haussler D, Hiatt JB, Ho IY, Howard J, Hunt M, Jackman SD, Jaffe DB, Jarvis ED, Jiang H, Kazakov S, Kersey PJ, Kitzman JO, Knight JR, Koren S, Lam TW, Lavenier D, Laviolette F, Li Y, Li Z, Liu B, Liu Y, Luo R, Maccallum I, Macmanes MD, Maillet N, Melnikov S, Naquin D, Ning Z, Otto TD, Paten B, Paulo OS, Phillippy AM, Pina-Martins F, Place M, Przybylski D, Qin X, Qu C, Ribeiro FJ, Richards S, Rokhsar DS, Ruby JG, Scalabrin S, Schatz MC, Schwartz DC, Sergushichev A, Sharpe T, Shaw TI, Shendure J, Shi Y, Simpson JT, Song H, Tsarev F, Vezzi F, Vicedomini R, Vieira BM, Wang J, Worley KC, Yin S, Yiu SM, Yuan J, Zhang G, Zhang H, Zhou S, Korf IF.

Gigascience. 2013 Jul 22;2(1):10. doi: 10.1186/2047-217X-2-10.

20.

Noninvasive fetal genome sequencing: a primer.

Snyder MW, Simmons LE, Kitzman JO, Santillan DA, Santillan MK, Gammill HS, Shendure J.

Prenat Diagn. 2013 Jun;33(6):547-54. doi: 10.1002/pd.4097. Review.

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