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Results: 1 to 20 of 171

1.

Exonuclease mutations In DNA Polymerase Epsilon reveal replication strand specific mutation patterns and human origins of replication.

Shinbrot E, Henninger EE, Weinhold N, Covington KR, Göksenin AY, Schultz N, Chao H, Doddapaneni H, Muzny DM, Gibbs RA, Sander C, Pursell ZF, Wheeler DA.

Genome Res. 2014 Sep 16. pii: gr.174789.114. [Epub ahead of print]

PMID:
25228659
[PubMed - as supplied by publisher]
2.

Gibbon genome and the fast karyotype evolution of small apes.

Carbone L, Harris RA, Gnerre S, Veeramah KR, Lorente-Galdos B, Huddleston J, Meyer TJ, Herrero J, Roos C, Aken B, Anaclerio F, Archidiacono N, Baker C, Barrell D, Batzer MA, Beal K, Blancher A, Bohrson CL, Brameier M, Campbell MS, Capozzi O, Casola C, Chiatante G, Cree A, Damert A, de Jong PJ, Dumas L, Fernandez-Callejo M, Flicek P, Fuchs NV, Gut I, Gut M, Hahn MW, Hernandez-Rodriguez J, Hillier LW, Hubley R, Ianc B, Izsvák Z, Jablonski NG, Johnstone LM, Karimpour-Fard A, Konkel MK, Kostka D, Lazar NH, Lee SL, Lewis LR, Liu Y, Locke DP, Mallick S, Mendez FL, Muffato M, Nazareth LV, Nevonen KA, O'Bleness M, Ochis C, Odom DT, Pollard KS, Quilez J, Reich D, Rocchi M, Schumann GG, Searle S, Sikela JM, Skollar G, Smit A, Sonmez K, ten Hallers B, Terhune E, Thomas GW, Ullmer B, Ventura M, Walker JA, Wall JD, Walter L, Ward MC, Wheelan SJ, Whelan CW, White S, Wilhelm LJ, Woerner AE, Yandell M, Zhu B, Hammer MF, Marques-Bonet T, Eichler EE, Fulton L, Fronick C, Muzny DM, Warren WC, Worley KC, Rogers J, Wilson RK, Gibbs RA.

Nature. 2014 Sep 11;513(7517):195-201. doi: 10.1038/nature13679.

PMID:
25209798
[PubMed - in process]
3.

Mutually exclusive recurrent somatic mutations in MAP2K1 and BRAF support a central role for ERK activation in LCH pathogenesis.

Chakraborty R, Hampton OA, Shen X, Simko S, Shih A, Abhyankar H, Lim KP, Covington K, Trevino L, Dewal N, Muzny DM, Doddapaneni H, Hu J, Wang L, Lupo PJ, Hicks MJ, Bonilla DL, Dwyer KC, Berres ML, Poulikakos PI, Merad M, McClain KL, Wheeler DA, Allen CE, Parsons DW.

Blood. 2014 Sep 8. pii: blood-2014-05-577825. [Epub ahead of print]

PMID:
25202140
[PubMed - as supplied by publisher]
4.

Draft genome sequences and description of Lactobacillus rhamnosus strains L31, L34, and L35.

Boonma P, Spinler JK, Qin X, Jittaprasatsin C, Muzny DM, Doddapaneni H, Gibbs R, Petrosino J, Tumwasorn S, Versalovic J.

Stand Genomic Sci. 2014 Feb 15;9(3):744-54. doi: 10.4056/sigs.5048907. eCollection 2014 Jun 15.

PMID:
25197459
[PubMed]
Free PMC Article
5.

The somatic genomic landscape of chromophobe renal cell carcinoma.

Davis CF, Ricketts CJ, Wang M, Yang L, Cherniack AD, Shen H, Buhay C, Kang H, Kim SC, Fahey CC, Hacker KE, Bhanot G, Gordenin DA, Chu A, Gunaratne PH, Biehl M, Seth S, Kaipparettu BA, Bristow CA, Donehower LA, Wallen EM, Smith AB, Tickoo SK, Tamboli P, Reuter V, Schmidt LS, Hsieh JJ, Choueiri TK, Hakimi AA; The Cancer Genome Atlas Research Network, Chin L, Meyerson M, Kucherlapati R, Park WY, Robertson AG, Laird PW, Henske EP, Kwiatkowski DJ, Park PJ, Morgan M, Shuch B, Muzny D, Wheeler DA, Linehan WM, Gibbs RA, Rathmell WK, Creighton CJ; Cancer Genome Atlas Research Network.

Cancer Cell. 2014 Sep 8;26(3):319-30. doi: 10.1016/j.ccr.2014.07.014. Epub 2014 Aug 21.

PMID:
25155756
[PubMed - in process]
6.

Compound Heterozygous CORO1A Mutations in Siblings with a Mucocutaneous-Immunodeficiency Syndrome of Epidermodysplasia Verruciformis-HPV, Molluscum Contagiosum and Granulomatous Tuberculoid Leprosy.

Stray-Pedersen A, Jouanguy E, Crequer A, Bertuch AA, Brown BS, Jhangiani SN, Muzny DM, Gambin T, Sorte H, Sasa G, Metry D, Campbell J, Sockrider MM, Dishop MK, Scollard DM, Gibbs RA, Mace EM, Orange JS, Lupski JR, Casanova JL, Noroski LM.

J Clin Immunol. 2014 Oct;34(7):871-90. doi: 10.1007/s10875-014-0074-8. Epub 2014 Jul 30.

PMID:
25073507
[PubMed - in process]
7.

Next-generation sequencing identifies rare variants associated with Noonan syndrome.

Chen PC, Yin J, Yu HW, Yuan T, Fernandez M, Yung CK, Trinh QM, Peltekova VD, Reid JG, Tworog-Dube E, Morgan MB, Muzny DM, Stein L, McPherson JD, Roberts AE, Gibbs RA, Neel BG, Kucherlapati R.

Proc Natl Acad Sci U S A. 2014 Aug 5;111(31):11473-8. doi: 10.1073/pnas.1324128111. Epub 2014 Jul 21.

PMID:
25049390
[PubMed - in process]
Free PMC Article
8.

Vaccine-Associated Varicella and Rubella Infections In Severe Combined Immunodeficiency with Isolated CD4 Lymphocytopenia and Mutations in IL7R Detected by Tandem Whole Exome Sequencing and Chromosomal Microarray.

Bayer D, Martinez C, Sorte H, Forbes L, Demmler-Harrison G, Hanson I, Pearson N, Noroski L, Bellini W, Leduc M, Yang Y, Eng C, Patel A, Rodningen O, Muzny D, Gibbs R, Campell I, Baker M, Zhang V, Lupski J, Orange J, Seeborg F, Stray-Pedersen A.

Clin Exp Immunol. 2014 Jul 21. doi: 10.1111/cei.12421. [Epub ahead of print]

PMID:
25046553
[PubMed - as supplied by publisher]
9.

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.

Bayram Y, Pehlivan D, Karaca E, Gambin T, Jhangiani SN, Erdin S, Gonzaga-Jauregui C, Wiszniewski W, Muzny D; Baylor-Hopkins Center for Mendelian Genomics, Elcioglu NH, Yildirim MS, Bozkurt B, Zamani AG, Boerwinkle E, Gibbs RA, Lupski JR.

Am J Med Genet A. 2014 Sep;164(9):2328-34. doi: 10.1002/ajmg.a.36678. Epub 2014 Jul 14.

PMID:
25045128
[PubMed - in process]
10.

Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.

Gonzaga-Jauregui C, Gamble CN, Yuan B, Penney S, Jhangiani S, Muzny DM, Gibbs RA, Lupski JR, Hecht JT.

Eur J Hum Genet. 2014 Jul 2. doi: 10.1038/ejhg.2014.107. [Epub ahead of print]

PMID:
24986830
[PubMed - as supplied by publisher]
11.

Comparative validation of the D. melanogaster modENCODE transcriptome annotation.

Chen ZX, Sturgill D, Qu J, Jiang H, Park S, Boley N, Suzuki AM, Fletcher AR, Plachetzki DC, FitzGerald PC, Artieri CG, Atallah J, Barmina O, Brown JB, Blankenburg KP, Clough E, Dasgupta A, Gubbala S, Han Y, Jayaseelan JC, Kalra D, Kim YA, Kovar CL, Lee SL, Li M, Malley JD, Malone JH, Mathew T, Mattiuzzo NR, Munidasa M, Muzny DM, Ongeri F, Perales L, Przytycka TM, Pu LL, Robinson G, Thornton RL, Saada N, Scherer SE, Smith HE, Vinson C, Warner CB, Worley KC, Wu YQ, Zou X, Cherbas P, Kellis M, Eisen MB, Piano F, Kionte K, Fitch DH, Sternberg PW, Cutter AD, Duff MO, Hoskins RA, Graveley BR, Gibbs RA, Bickel PJ, Kopp A, Carninci P, Celniker SE, Oliver B, Richards S.

Genome Res. 2014 Jul;24(7):1209-23. doi: 10.1101/gr.159384.113.

PMID:
24985915
[PubMed - in process]
Free PMC Article
12.

Associations of NINJ2 sequence variants with incident ischemic stroke in the Cohorts for Heart and Aging in Genomic Epidemiology (CHARGE) consortium.

Bis JC, DeStefano A, Liu X, Brody JA, Choi SH, Verhaaren BF, Debette S, Ikram MA, Shahar E, Butler KR Jr, Gottesman RF, Muzny D, Kovar CL, Psaty BM, Hofman A, Lumley T, Gupta M, Wolf PA, van Duijn C, Gibbs RA, Mosley TH, Longstreth WT Jr, Boerwinkle E, Seshadri S, Fornage M.

PLoS One. 2014 Jun 24;9(6):e99798. doi: 10.1371/journal.pone.0099798. eCollection 2014.

PMID:
24959832
[PubMed - in process]
Free PMC Article
13.

Association of levels of fasting glucose and insulin with rare variants at the chromosome 11p11.2-MADD locus: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.

Cornes BK, Brody JA, Nikpoor N, Morrison AC, Dang HC, Ahn BS, Wang S, Dauriz M, Barzilay JI, Dupuis J, Florez JC, Coresh J, Gibbs RA, Kao WH, Liu CT, McKnight B, Muzny D, Pankow JS, Reid JG, White CC, Johnson AD, Wong TY, Psaty BM, Boerwinkle E, Rotter JI, Siscovick DS, Sladek R, Meigs JB.

Circ Cardiovasc Genet. 2014 Jun;7(3):374-82. doi: 10.1161/CIRCGENETICS.113.000169.

PMID:
24951664
[PubMed - in process]
Free PMC Article
14.

Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.

Magnani JW, Brody JA, Prins BP, Arking DE, Lin H, Yin X, Liu CT, Morrison AC, Zhang F, Spector TD, Alonso A, Bis JC, Heckbert SR, Lumley T, Sitlani CM, Cupples LA, Lubitz SA, Soliman EZ, Pulit SL, Newton-Cheh C, O'Donnell CJ, Ellinor PT, Benjamin EJ, Muzny DM, Gibbs RA, Santibanez J, Taylor HA, Rotter JI, Lange LA, Psaty BM, Jackson R, Rich SS, Boerwinkle E, Jamshidi Y, Sotoodehnia N; CHARGE Consortium; NHLBI Exome Sequencing Project (ESP); UK10K.

Circ Cardiovasc Genet. 2014 Jun;7(3):365-73. doi: 10.1161/CIRCGENETICS.113.000098.

PMID:
24951663
[PubMed - in process]
15.

Sequencing of 2 subclinical atherosclerosis candidate regions in 3669 individuals: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.

Bis JC, White CC, Franceschini N, Brody J, Zhang X, Muzny D, Santibanez J, Gibbs R, Liu X, Lin H, Boerwinkle E, Psaty BM, North KE, Cupples LA, O'Donnell CJ; CHARGE Subclinical Atherosclerosis Working Group.

Circ Cardiovasc Genet. 2014 Jun;7(3):359-64. doi: 10.1161/CIRCGENETICS.113.000116.

PMID:
24951662
[PubMed - in process]
16.

ADAM19 and HTR4 variants and pulmonary function: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.

London SJ, Gao W, Gharib SA, Hancock DB, Wilk JB, House JS, Gibbs RA, Muzny DM, Lumley T, Franceschini N, North KE, Psaty BM, Kovar CL, Coresh J, Zhou Y, Heckbert SR, Brody JA, Morrison AC, Dupuis J.

Circ Cardiovasc Genet. 2014 Jun;7(3):350-8. doi: 10.1161/CIRCGENETICS.113.000066.

PMID:
24951661
[PubMed - in process]
17.

Sequence variation in TMEM18 in association with body mass index: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.

Liu CT, Young KL, Brody JA, Olden M, Wojczynski MK, Heard-Costa N, Li G, Morrison AC, Muzny D, Gibbs RA, Reid JG, Shao Y, Zhou Y, Boerwinkle E, Heiss G, Wagenknecht L, McKnight B, Borecki IB, Fox CS, North KE, Cupples LA.

Circ Cardiovasc Genet. 2014 Jun;7(3):344-9. doi: 10.1161/CIRCGENETICS.13.000067.

PMID:
24951660
[PubMed - in process]
18.

Strategies to design and analyze targeted sequencing data: cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study.

Lin H, Wang M, Brody JA, Bis JC, Dupuis J, Lumley T, McKnight B, Rice KM, Sitlani CM, Reid JG, Bressler J, Liu X, Davis BC, Johnson AD, O'Donnell CJ, Kovar CL, Dinh H, Wu Y, Newsham I, Chen H, Broka A, DeStefano AL, Gupta M, Lunetta KL, Liu CT, White CC, Xing C, Zhou Y, Benjamin EJ, Schnabel RB, Heckbert SR, Psaty BM, Muzny DM, Cupples LA, Morrison AC, Boerwinkle E.

Circ Cardiovasc Genet. 2014 Jun;7(3):335-43. doi: 10.1161/CIRCGENETICS.113.000350.

PMID:
24951659
[PubMed - in process]
19.

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.

Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J, Nishimura G, Rustad CF, Abrahamsen TG, Rønnestad A, Osnes LT, Egeland T, Rødningen OK, Beck CR; Baylor-Johns Hopkins Center for Mendelian Genomics, Boerwinkle EA, Gibbs RA, Lupski JR, Orange JS, Lausch E, Hanson IC.

Am J Hum Genet. 2014 Jul 3;95(1):96-107. doi: 10.1016/j.ajhg.2014.05.007. Epub 2014 Jun 12.

PMID:
24931394
[PubMed - indexed for MEDLINE]
20.

New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.

Xie YA, Lee W, Cai C, Gambin T, Nõupuu K, Sujirakul T, Ayuso C, Jhangiani S, Muzny D, Boerwinkle E, Gibbs R, Greenstein VC, Lupski JR, Tsang SH, Allikmets R.

Hum Mol Genet. 2014 Jun 10. pii: ddu291. [Epub ahead of print]

PMID:
24916380
[PubMed - as supplied by publisher]

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