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Results: 1 to 20 of 114

1.

A Defined Zebrafish Line for High-Throughput Genetics and Genomics: NHGRI-1.

LaFave MC, Varshney GK, Vemulapalli M, Mullikin JC, Burgess SM.

Genetics. 2014 Jul 9. pii: genetics.114.166769. [Epub ahead of print]

PMID:
25009150
[PubMed - as supplied by publisher]
Free Article
2.

Integrative DNA, RNA, and Protein Evidence Connects TREML4 to Coronary Artery Calcification.

Sen SK, Boelte KC, Barb JJ, Joehanes R, Zhao X, Cheng Q, Adams L, Teer JK, Accame DS, Chowdhury S, Singh LN; NISC Comparative Sequencing Program; CHARGE Consortium, Kavousi M, Peyser PA, Quigley L, Priel DL, Lau K, Kuhns DB, Yoshimura T, Johnson AD, Hwang SJ, Chen MY, Arai AE, Green ED, Mullikin JC, Kolodgie FD, O'Donnell CJ, Virmani R, Munson PJ, McVicar DW, Biesecker LG.

Am J Hum Genet. 2014 Jul 3;95(1):66-76. doi: 10.1016/j.ajhg.2014.06.003. Epub 2014 Jun 26.

PMID:
24975946
[PubMed - in process]
3.

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.

Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Adams DR, Markello T, Golas G, Simeonov DR, Holloman C, Tankovic A, Karamchandani MM, Schreiber JM, Mullikin JC; PhD for the NISC Comparative Sequencing Program, Tifft CJ, Toro C, Boerkoel CF, Traynelis SF, Gahl WA.

Ann Clin Transl Neurol. 2014 Mar 1;1(3):190-198.

PMID:
24839611
[PubMed]
4.

Identification of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell lines.

Sen SK, Barb JJ, Cherukuri PF, Accame DS, Elkahloun AG, Singh LN, Lee-Lin SQ; NISC Comparative Sequencing Program, Kolodgie FD, Cheng Q, Zhao X, Chen MY, Arai AE, Green ED, Mullikin JC, Munson PJ, Biesecker LG.

BMC Genomics. 2014 Mar 14;15:198. doi: 10.1186/1471-2164-15-198.

PMID:
24628908
[PubMed - in process]
Free PMC Article
5.

Gene-based sequencing identifies lipid-influencing variants with ethnicity-specific effects in African Americans.

Bentley AR, Chen G, Shriner D, Doumatey AP, Zhou J, Huang H, Mullikin JC, Blakesley RW, Hansen NF, Bouffard GG, Cherukuri PF, Maskeri B, Young AC, Adeyemo A, Rotimi CN.

PLoS Genet. 2014 Mar 6;10(3):e1004190. doi: 10.1371/journal.pgen.1004190. eCollection 2014 Mar.

PMID:
24603370
[PubMed - in process]
Free PMC Article
6.

Developmental pathway for potent V1V2-directed HIV-neutralizing antibodies.

Doria-Rose NA, Schramm CA, Gorman J, Moore PL, Bhiman JN, DeKosky BJ, Ernandes MJ, Georgiev IS, Kim HJ, Pancera M, Staupe RP, Altae-Tran HR, Bailer RT, Crooks ET, Cupo A, Druz A, Garrett NJ, Hoi KH, Kong R, Louder MK, Longo NS, McKee K, Nonyane M, O'Dell S, Roark RS, Rudicell RS, Schmidt SD, Sheward DJ, Soto C, Wibmer CK, Yang Y, Zhang Z; NISC Comparative Sequencing Program, Mullikin JC, Binley JM, Sanders RW, Wilson IA, Moore JP, Ward AB, Georgiou G, Williamson C, Abdool Karim SS, Morris L, Kwong PD, Shapiro L, Mascola JR.

Nature. 2014 May 1;509(7498):55-62. doi: 10.1038/nature13036. Epub 2014 Mar 2.

PMID:
24590074
[PubMed - indexed for MEDLINE]
7.

Early-onset stroke and vasculopathy associated with mutations in ADA2.

Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I.

N Engl J Med. 2014 Mar 6;370(10):911-20. doi: 10.1056/NEJMoa1307361. Epub 2014 Feb 19.

PMID:
24552284
[PubMed - indexed for MEDLINE]
8.

Sequence diversity of Pan troglodytes subspecies and the impact of WFDC6 selective constraints in reproductive immunity.

Ferreira Z, Hurle B, Andrés AM, Kretzschmar WW, Mullikin JC, Cherukuri PF, Cruz P, Gonder MK, Stone AC, Tishkoff S, Swanson WJ; NISC Comparative Sequencing Program, Green ED, Clark AG, Seixas S.

Genome Biol Evol. 2013;5(12):2512-23. doi: 10.1093/gbe/evt198. Erratum in: Genome Biol Evol. 2014;6(2):406.

PMID:
24356879
[PubMed - in process]
Free Article
9.

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.

PMID:
24352235
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

The genome of the ctenophore Mnemiopsis leidyi and its implications for cell type evolution.

Ryan JF, Pang K, Schnitzler CE, Nguyen AD, Moreland RT, Simmons DK, Koch BJ, Francis WR, Havlak P; NISC Comparative Sequencing Program, Smith SA, Putnam NH, Haddock SH, Dunn CW, Wolfsberg TG, Mullikin JC, Martindale MQ, Baxevanis AD.

Science. 2013 Dec 13;342(6164):1242592. doi: 10.1126/science.1242592.

PMID:
24337300
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Using exome data to identify malignant hyperthermia susceptibility mutations.

Gonsalves SG, Ng D, Johnston JJ, Teer JK, Stenson PD, Cooper DN, Mullikin JC, Biesecker LG; NISC Comparative Sequencing Program.

Anesthesiology. 2013 Nov;119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7.

PMID:
24195946
[PubMed - indexed for MEDLINE]
Free Article
12.

De novo identification of VRC01 class HIV-1-neutralizing antibodies by next-generation sequencing of B-cell transcripts.

Zhu J, Wu X, Zhang B, McKee K, O'Dell S, Soto C, Zhou T, Casazza JP; NISC Comparative Sequencing Program, Mullikin JC, Kwong PD, Mascola JR, Shapiro L.

Proc Natl Acad Sci U S A. 2013 Oct 22;110(43):E4088-97. doi: 10.1073/pnas.1306262110. Epub 2013 Oct 8.

PMID:
24106303
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Multidonor analysis reveals structural elements, genetic determinants, and maturation pathway for HIV-1 neutralization by VRC01-class antibodies.

Zhou T, Zhu J, Wu X, Moquin S, Zhang B, Acharya P, Georgiev IS, Altae-Tran HR, Chuang GY, Joyce MG, Do Kwon Y, Longo NS, Louder MK, Luongo T, McKee K, Schramm CA, Skinner J, Yang Y, Yang Z, Zhang Z, Zheng A, Bonsignori M, Haynes BF, Scheid JF, Nussenzweig MC, Simek M, Burton DR, Koff WC; NISC Comparative Sequencing Program, Mullikin JC, Connors M, Shapiro L, Nabel GJ, Mascola JR, Kwong PD.

Immunity. 2013 Aug 22;39(2):245-58. doi: 10.1016/j.immuni.2013.04.012. Epub 2013 Aug 1.

PMID:
23911655
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program.

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PMID:
23861362
[PubMed - indexed for MEDLINE]
15.

To the Root of the Curl: A Signature of a Recent Selective Sweep Identifies a Mutation That Defines the Cornish Rex Cat Breed.

Gandolfi B, Alhaddad H, Affolter VK, Brockman J, Haggstrom J, Joslin SE, Koehne AL, Mullikin JC, Outerbridge CA, Warren WC, Lyons LA.

PLoS One. 2013 Jun 27;8(6):e67105. Print 2013.

PMID:
23826204
[PubMed - as supplied by publisher]
Free PMC Article
16.

Great ape genetic diversity and population history.

Prado-Martinez J, Sudmant PH, Kidd JM, Li H, Kelley JL, Lorente-Galdos B, Veeramah KR, Woerner AE, O'Connor TD, Santpere G, Cagan A, Theunert C, Casals F, Laayouni H, Munch K, Hobolth A, Halager AE, Malig M, Hernandez-Rodriguez J, Hernando-Herraez I, Prüfer K, Pybus M, Johnstone L, Lachmann M, Alkan C, Twigg D, Petit N, Baker C, Hormozdiari F, Fernandez-Callejo M, Dabad M, Wilson ML, Stevison L, Camprubí C, Carvalho T, Ruiz-Herrera A, Vives L, Mele M, Abello T, Kondova I, Bontrop RE, Pusey A, Lankester F, Kiyang JA, Bergl RA, Lonsdorf E, Myers S, Ventura M, Gagneux P, Comas D, Siegismund H, Blanc J, Agueda-Calpena L, Gut M, Fulton L, Tishkoff SA, Mullikin JC, Wilson RK, Gut IG, Gonder MK, Ryder OA, Hahn BH, Navarro A, Akey JM, Bertranpetit J, Reich D, Mailund T, Schierup MH, Hvilsom C, Andrés AM, Wall JD, Bustamante CD, Hammer MF, Eichler EE, Marques-Bonet T.

Nature. 2013 Jul 25;499(7459):471-5. doi: 10.1038/nature12228. Epub 2013 Jul 3.

PMID:
23823723
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Sequencing of candidate chromosome instability genes in endometrial cancers reveals somatic mutations in ESCO1, CHTF18, and MRE11A.

Price JC, Pollock LM, Rudd ML, Fogoros SK, Mohamed H, Hanigan CL, Le Gallo M, Program NI, Zhang S, Cruz P, Cherukuri PF, Hansen NF, McManus KJ, Godwin AK, Sgroi DC, Mullikin JC, Merino MJ, Hieter P, Bell DW.

PLoS One. 2013 Jun 3;8(6):e63313. doi: 10.1371/journal.pone.0063313. Print 2013.

PMID:
23755103
[PubMed - in process]
Free PMC Article
18.

Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association.

Solomon BD, Pineda-Alvarez DE, Hadley DW, Hansen NF, Kamat A, Donovan FX, Chandrasekharappa SC, Hong SK, Roessler E, Mullikin JC; NISC Comparative Sequencing Program.

Mol Syndromol. 2013 Feb;4(1-2):27-31. doi: 10.1159/000345406.

PMID:
23653574
[PubMed]
Free PMC Article
19.

Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease.

Kirino Y, Zhou Q, Ishigatsubo Y, Mizuki N, Tugal-Tutkun I, Seyahi E, Özyazgan Y, Ugurlu S, Erer B, Abaci N, Ustek D, Meguro A, Ueda A, Takeno M, Inoko H, Ombrello MJ, Satorius CL, Maskeri B, Mullikin JC, Sun HW, Gutierrez-Cruz G, Kim Y, Wilson AF, Kastner DL, Gül A, Remmers EF.

Proc Natl Acad Sci U S A. 2013 May 14;110(20):8134-9. doi: 10.1073/pnas.1306352110. Epub 2013 Apr 30.

PMID:
23633568
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Shimmer: detection of genetic alterations in tumors using next-generation sequence data.

Hansen NF, Gartner JJ, Mei L, Samuels Y, Mullikin JC.

Bioinformatics. 2013 Jun 15;29(12):1498-503. doi: 10.1093/bioinformatics/btt183. Epub 2013 Apr 24.

PMID:
23620360
[PubMed - indexed for MEDLINE]
Free PMC Article

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