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Items: 1 to 50 of 69

1.

Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection.

Wolford BN, Hornsby WE, Guo D, Zhou W, Lin M, Farhat L, McNamara J, Driscoll A, Wu X, Schmidt EM, Norton EL, Mathis MR, Ganesh SK, Douville NJ, Brummett CM, Kitzman J, Chen YE, Kim K, Deeb GM, Patel H, Eagle KA, Milewicz DM, J Willer C, Yang B.

Circ Genom Precis Med. 2019 Jun;12(6):e002476. doi: 10.1161/CIRCGEN.118.002476. Epub 2019 Jun 18.

PMID:
31211624
2.

Genomic annotation of disease-associated variants reveals shared functional contexts.

Kyono Y, Kitzman JO, Parker SCJ.

Diabetologia. 2019 May;62(5):735-743. doi: 10.1007/s00125-019-4823-3. Epub 2019 Feb 12. Review.

PMID:
30756131
3.

Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

Nielsen JB, Thorolfsdottir RB, Fritsche LG, Zhou W, Skov MW, Graham SE, Herron TJ, McCarthy S, Schmidt EM, Sveinbjornsson G, Surakka I, Mathis MR, Yamazaki M, Crawford RD, Gabrielsen ME, Skogholt AH, Holmen OL, Lin M, Wolford BN, Dey R, Dalen H, Sulem P, Chung JH, Backman JD, Arnar DO, Thorsteinsdottir U, Baras A, O'Dushlaine C, Holst AG, Wen X, Hornsby W, Dewey FE, Boehnke M, Kheterpal S, Mukherjee B, Lee S, Kang HM, Holm H, Kitzman J, Shavit JA, Jalife J, Brummett CM, Teslovich TM, Carey DJ, Gudbjartsson DF, Stefansson K, Abecasis GR, Hveem K, Willer CJ.

Nat Genet. 2018 Sep;50(9):1234-1239. doi: 10.1038/s41588-018-0171-3. Epub 2018 Jul 30.

4.

Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism.

Pérez Millán MI, Vishnopolska SA, Daly AZ, Bustamante JP, Seilicovich A, Bergadá I, Braslavsky D, Keselman AC, Lemons RM, Mortensen AH, Marti MA, Camper SA, Kitzman JO.

Mol Genet Genomic Med. 2018 May 8. doi: 10.1002/mgg3.395. [Epub ahead of print]

5.

Global dynamics of stage-specific transcription factor binding during thymocyte development.

Hosoya T, D'Oliveira Albanus R, Hensley J, Myers G, Kyono Y, Kitzman J, Parker SCJ, Engel JD.

Sci Rep. 2018 Apr 4;8(1):5605. doi: 10.1038/s41598-018-23774-9.

6.

Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development.

Nielsen JB, Fritsche LG, Zhou W, Teslovich TM, Holmen OL, Gustafsson S, Gabrielsen ME, Schmidt EM, Beaumont R, Wolford BN, Lin M, Brummett CM, Preuss MH, Refsgaard L, Bottinger EP, Graham SE, Surakka I, Chu Y, Skogholt AH, Dalen H, Boyle AP, Oral H, Herron TJ, Kitzman J, Jalife J, Svendsen JH, Olesen MS, Njølstad I, Løchen ML, Baras A, Gottesman O, Marcketta A, O'Dushlaine C, Ritchie MD, Wilsgaard T, Loos RJF, Frayling TM, Boehnke M, Ingelsson E, Carey DJ, Dewey FE, Kang HM, Abecasis GR, Hveem K, Willer CJ.

Am J Hum Genet. 2018 Jan 4;102(1):103-115. doi: 10.1016/j.ajhg.2017.12.003. Epub 2017 Dec 28.

7.

Evidence for increased use of the Society of Pediatric Anesthesia Critical Events Checklist in resource-limited environments: A retrospective observational study of app data.

O'Reilly-Shah VN, Kitzman J, Jabaley CS, Lynde GC.

Paediatr Anaesth. 2018 Feb;28(2):167-173. doi: 10.1111/pan.13305. Epub 2017 Dec 28.

PMID:
29285834
8.

Variant Interpretation: Functional Assays to the Rescue.

Starita LM, Ahituv N, Dunham MJ, Kitzman JO, Roth FP, Seelig G, Shendure J, Fowler DM.

Am J Hum Genet. 2017 Sep 7;101(3):315-325. doi: 10.1016/j.ajhg.2017.07.014.

9.

Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve.

Yang B, Zhou W, Jiao J, Nielsen JB, Mathis MR, Heydarpour M, Lettre G, Folkersen L, Prakash S, Schurmann C, Fritsche L, Farnum GA, Lin M, Othman M, Hornsby W, Driscoll A, Levasseur A, Thomas M, Farhat L, Dubé MP, Isselbacher EM, Franco-Cereceda A, Guo DC, Bottinger EP, Deeb GM, Booher A, Kheterpal S, Chen YE, Kang HM, Kitzman J, Cordell HJ, Keavney BD, Goodship JA, Ganesh SK, Abecasis G, Eagle KA, Boyle AP, Loos RJF, Eriksson P, Tardif JC, Brummett CM, Milewicz DM, Body SC, Willer CJ.

Nat Commun. 2017 May 25;8:15481. doi: 10.1038/ncomms15481.

10.

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. Epub 2016 Nov 9. Review.

11.

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.

12.

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. eCollection 2016 Jul.

13.

Symptomatic endotracheal tube obstruction in infants intubated with Microcuff(®) endotracheal tubes.

Lam H, Kitzman J, Matthews R, Young L, Austin TM.

Paediatr Anaesth. 2016 Jul;26(7):767-8. doi: 10.1111/pan.12913. No abstract available.

PMID:
27277651
14.

Haplotypes drop by drop.

Kitzman JO.

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

PMID:
26963554
15.

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.

16.

Regional Isolation Drives Bacterial Diversification within Cystic Fibrosis Lungs.

Jorth P, Staudinger BJ, Wu X, Hisert KB, Hayden H, Garudathri J, Harding CL, Radey MC, Rezayat A, Bautista G, Berrington WR, Goddard AF, Zheng C, Angermeyer A, Brittnacher MJ, Kitzman J, Shendure J, Fligner CL, Mittler J, Aitken ML, Manoil C, Bruce JE, Yahr TL, Singh PK.

Cell Host Microbe. 2015 Sep 9;18(3):307-19. doi: 10.1016/j.chom.2015.07.006. Epub 2015 Aug 20.

17.
18.

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. eCollection 2015.

19.

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. Epub 2015 May 7. Review.

PMID:
25948246
20.

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. Epub 2015 Apr 1.

21.

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. Epub 2015 Mar 30. Erratum in: Genetics. 2017 Dec;207 (4):1713.

22.

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.

23.

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. Epub 2015 Jan 5.

24.

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. Epub 2014 Nov 4.

25.

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. Epub 2014 Oct 19.

26.

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. Epub 2014 Oct 19.

27.

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. eCollection 2014 Mar.

28.

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. Epub 2013 Dec 18.

29.

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. Epub 2013 Nov 3.

30.

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.

31.

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.

32.

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. Epub 2013 Apr 1. Review.

33.

A high-coverage genome sequence from an archaic Denisovan individual.

Meyer M, Kircher M, Gansauge MT, Li H, Racimo F, Mallick S, Schraiber JG, Jay F, Prüfer K, de Filippo C, Sudmant PH, Alkan C, Fu Q, Do R, Rohland N, Tandon A, Siebauer M, Green RE, Bryc K, Briggs AW, Stenzel U, Dabney J, Shendure J, Kitzman J, Hammer MF, Shunkov MV, Derevianko AP, Patterson N, Andrés AM, Eichler EE, Slatkin M, Reich D, Kelso J, Pääbo S.

Science. 2012 Oct 12;338(6104):222-6. doi: 10.1126/science.1224344. Epub 2012 Aug 30.

34.

Poxviruses deploy genomic accordions to adapt rapidly against host antiviral defenses.

Elde NC, Child SJ, Eickbush MT, Kitzman JO, Rogers KS, Shendure J, Geballe AP, Malik HS.

Cell. 2012 Aug 17;150(4):831-41. doi: 10.1016/j.cell.2012.05.049.

35.

Non-invasive fetal genome sequencing: opportunities and challenges.

Tabor HK, Murray JC, Gammill HS, Kitzman JO, Snyder MW, Ventura M, Lewis AP, Qiu R, Simmons LE, Rubens CE, Santillan MK, Eichler EE, Cheng EY, Bamshad MJ, Shendure J.

Am J Med Genet A. 2012 Oct;158A(10):2382-4. doi: 10.1002/ajmg.a.35545. Epub 2012 Aug 10. No abstract available.

36.

Noninvasive whole-genome sequencing of a human fetus.

Kitzman JO, Snyder MW, Ventura M, Lewis AP, Qiu R, Simmons LE, Gammill HS, Rubens CE, Santillan DA, Murray JC, Tabor HK, Bamshad MJ, Eichler EE, Shendure J.

Sci Transl Med. 2012 Jun 6;4(137):137ra76. doi: 10.1126/scitranslmed.3004323.

37.

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.

Nat Biotechnol. 2011 Jan;29(1):59-63. doi: 10.1038/nbt.1740. Epub 2010 Dec 19. Erratum in: Nat Biotechnol. 2011 May;29(5):459.

38.

Rapid, low-input, low-bias construction of shotgun fragment libraries by high-density in vitro transposition.

Adey A, Morrison HG, Asan, Xun X, Kitzman JO, Turner EH, Stackhouse B, MacKenzie AP, Caruccio NC, Zhang X, Shendure J.

Genome Biol. 2010;11(12):R119. doi: 10.1186/gb-2010-11-12-r119. Epub 2010 Dec 8.

39.

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.

Science. 2010 Oct 29;330(6004):641-6. doi: 10.1126/science.1197005.

40.

Whole exome capture in solution with 3 Gbp of data.

Bainbridge MN, Wang M, Burgess DL, Kovar C, Rodesch MJ, D'Ascenzo M, Kitzman J, Wu YQ, Newsham I, Richmond TA, Jeddeloh JA, Muzny D, Albert TJ, Gibbs RA.

Genome Biol. 2010;11(6):R62. doi: 10.1186/gb-2010-11-6-r62. Epub 2010 Jun 17.

41.

Repeat subtraction-mediated sequence capture from a complex genome.

Fu Y, Springer NM, Gerhardt DJ, Ying K, Yeh CT, Wu W, Swanson-Wagner R, D'Ascenzo M, Millard T, Freeberg L, Aoyama N, Kitzman J, Burgess D, Richmond T, Albert TJ, Barbazuk WB, Jeddeloh JA, Schnable PS.

Plant J. 2010 Jun 1;62(5):898-909. doi: 10.1111/j.1365-313X.2010.04196.x. Epub 2010 Mar 4.

42.

Maize inbreds exhibit high levels of copy number variation (CNV) and presence/absence variation (PAV) in genome content.

Springer NM, Ying K, Fu Y, Ji T, Yeh CT, Jia Y, Wu W, Richmond T, Kitzman J, Rosenbaum H, Iniguez AL, Barbazuk WB, Jeddeloh JA, Nettleton D, Schnable PS.

PLoS Genet. 2009 Nov;5(11):e1000734. doi: 10.1371/journal.pgen.1000734. Epub 2009 Nov 20.

43.

Personalized copy number and segmental duplication maps using next-generation sequencing.

Alkan C, Kidd JM, Marques-Bonet T, Aksay G, Antonacci F, Hormozdiari F, Kitzman JO, Baker C, Malig M, Mutlu O, Sahinalp SC, Gibbs RA, Eichler EE.

Nat Genet. 2009 Oct;41(10):1061-7. doi: 10.1038/ng.437. Epub 2009 Aug 30.

44.

Acquired copy number alterations in adult acute myeloid leukemia genomes.

Walter MJ, Payton JE, Ries RE, Shannon WD, Deshmukh H, Zhao Y, Baty J, Heath S, Westervelt P, Watson MA, Tomasson MH, Nagarajan R, O'Gara BP, Bloomfield CD, Mrózek K, Selzer RR, Richmond TA, Kitzman J, Geoghegan J, Eis PS, Maupin R, Fulton RS, McLellan M, Wilson RK, Mardis ER, Link DC, Graubert TA, DiPersio JF, Ley TJ.

Proc Natl Acad Sci U S A. 2009 Aug 4;106(31):12950-5. doi: 10.1073/pnas.0903091106. Epub 2009 Jul 27.

45.

Mutation discovery in the mouse using genetically guided array capture and resequencing.

D'Ascenzo M, Meacham C, Kitzman J, Middle C, Knight J, Winer R, Kukricar M, Richmond T, Albert TJ, Czechanski A, Donahue LR, Affourtit J, Jeddeloh JA, Reinholdt L.

Mamm Genome. 2009 Jul;20(7):424-36. doi: 10.1007/s00335-009-9200-y. Epub 2009 Jul 21.

46.

Determinants of targeting by endogenous and exogenous microRNAs and siRNAs.

Nielsen CB, Shomron N, Sandberg R, Hornstein E, Kitzman J, Burge CB.

RNA. 2007 Nov;13(11):1894-910. Epub 2007 Sep 13.

47.
48.

Pharmacokinetics and metabolism of fenbendazole in channel catfish.

Kitzman JV, Holley JH, Huber WG, Koritz GD, Davis LE, Neff-Davis CA, Bevill RF, Short CR, Barker SA, Hsieh LC.

Vet Res Commun. 1990;14(3):217-26.

PMID:
2382406
49.

Determination of antipyrine in catfish plasma by high-performance liquid chromatography.

Kitzman JV, Martin JF, Holley JH, Huber WG.

J Chromatogr. 1988 Mar 11;437(1):306-10. No abstract available.

PMID:
3372671
50.

Pharmacokinetics of doxycycline in dogs.

Wilson RC, Kemp DT, Kitzman JV, Goetsch DD.

Can J Vet Res. 1988 Jan;52(1):12-4.

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