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Items: 1 to 20 of 353

1.

CRISPR/Cas9 targeting of GPRC6A suppresses prostate cancer tumorigenesis in a human xenograft model.

Ye R, Pi M, Cox JV, Nishimoto SK, Quarles LD.

J Exp Clin Cancer Res. 2017 Jun 28;36(1):90. doi: 10.1186/s13046-017-0561-x.

2.

Pan-cancer analysis reveals technical artifacts in TCGA germline variant calls.

Buckley AR, Standish KA, Bhutani K, Ideker T, Lasken RS, Carter H, Harismendy O, Schork NJ.

BMC Genomics. 2017 Jun 12;18(1):458. doi: 10.1186/s12864-017-3770-y.

3.

The Mouse Lemur, a Genetic Model Organism for Primate Biology, Behavior, and Health.

Ezran C, Karanewsky CJ, Pendleton JL, Sholtz A, Krasnow MR, Willick J, Razafindrakoto A, Zohdy S, Albertelli MA, Krasnow MA.

Genetics. 2017 Jun;206(2):651-664. doi: 10.1534/genetics.116.199448. Review.

4.

The Sequences of 1504 Mutants in the Model Rice Variety Kitaake Facilitate Rapid Functional Genomic Studies.

Li G, Jain R, Chern M, Pham NT, Martin JA, Wei T, Schackwitz WS, Lipzen AM, Duong PQ, Jones KC, Jiang L, Ruan D, Bauer D, Peng Y, Barry KW, Schmutz J, Ronald PC.

Plant Cell. 2017 Jun;29(6):1218-1231. doi: 10.1105/tpc.17.00154. Epub 2017 Jun 2.

5.

Genetic insights into juvenile idiopathic arthritis derived from deep whole genome sequencing.

Wong L, Jiang K, Chen Y, Jarvis JN.

Sci Rep. 2017 Jun 1;7(1):2657. doi: 10.1038/s41598-017-02966-9.

6.

Frameshift indels introduced by genome editing can lead to in-frame exon skipping.

Lalonde S, Stone OA, Lessard S, Lavertu A, Desjardins J, Beaudoin M, Rivas M, Stainier DYR, Lettre G.

PLoS One. 2017 Jun 1;12(6):e0178700. doi: 10.1371/journal.pone.0178700. eCollection 2017.

7.

Genome annotation for clinical genomic diagnostics: strengths and weaknesses.

Steward CA, Parker APJ, Minassian BA, Sisodiya SM, Frankish A, Harrow J.

Genome Med. 2017 May 30;9(1):49. doi: 10.1186/s13073-017-0441-1. Review.

8.

When "N of 2" is not enough: integrating statistical and functional data in gene discovery.

Cassa CA, Akle S, Jordan DM, Rosenfeld JA.

Cold Spring Harb Mol Case Stud. 2017 May;3(3):a001099. doi: 10.1101/mcs.a001099.

9.

The impact of rare and low-frequency genetic variants in common disease.

Bomba L, Walter K, Soranzo N.

Genome Biol. 2017 Apr 27;18(1):77. doi: 10.1186/s13059-017-1212-4. Review.

10.

Population- and individual-specific regulatory variation in Sardinia.

Pala M, Zappala Z, Marongiu M, Li X, Davis JR, Cusano R, Crobu F, Kukurba KR, Gloudemans MJ, Reinier F, Berutti R, Piras MG, Mulas A, Zoledziewska M, Marongiu M, Sorokin EP, Hess GT, Smith KS, Busonero F, Maschio A, Steri M, Sidore C, Sanna S, Fiorillo E, Bassik MC, Sawcer SJ, Battle A, Novembre J, Jones C, Angius A, Abecasis GR, Schlessinger D, Cucca F, Montgomery SB.

Nat Genet. 2017 May;49(5):700-707. doi: 10.1038/ng.3840. Epub 2017 Apr 10.

PMID:
28394350
11.

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations.

Martin AR, Gignoux CR, Walters RK, Wojcik GL, Neale BM, Gravel S, Daly MJ, Bustamante CD, Kenny EE.

Am J Hum Genet. 2017 Apr 6;100(4):635-649. doi: 10.1016/j.ajhg.2017.03.004. Epub 2017 Mar 30.

PMID:
28366442
12.

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.

Stenson PD, Mort M, Ball EV, Evans K, Hayden M, Heywood S, Hussain M, Phillips AD, Cooper DN.

Hum Genet. 2017 Jun;136(6):665-677. doi: 10.1007/s00439-017-1779-6. Epub 2017 Mar 27. Review.

13.

Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans.

Houweling PJ, Berman YD, Turner N, Quinlan KGR, Seto JT, Yang N, Lek M, Macarthur DG, Cooney G, North KN.

Int J Obes (Lond). 2017 Jul;41(7):1154-1157. doi: 10.1038/ijo.2017.72. Epub 2017 Mar 15.

14.

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.

Collins RL, Brand H, Redin CE, Hanscom C, Antolik C, Stone MR, Glessner JT, Mason T, Pregno G, Dorrani N, Mandrile G, Giachino D, Perrin D, Walsh C, Cipicchio M, Costello M, Stortchevoi A, An JY, Currall BB, Seabra CM, Ragavendran A, Margolin L, Martinez-Agosto JA, Lucente D, Levy B, Sanders SJ, Wapner RJ, Quintero-Rivera F, Kloosterman W, Talkowski ME.

Genome Biol. 2017 Mar 6;18(1):36. doi: 10.1186/s13059-017-1158-6.

15.

Genomic variants reveal differential evolutionary constraints on human transglutaminases and point towards unrecognized significance of transglutaminase 2.

Thangaraju K, Király R, Demény MA, András Mótyán J, Fuxreiter M, Fésüs L.

PLoS One. 2017 Mar 1;12(3):e0172189. doi: 10.1371/journal.pone.0172189. eCollection 2017.

16.

Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.

Fang H, Wu Y, Yang H, Yoon M, Jiménez-Barrón LT, Mittelman D, Robison R, Wang K, Lyon GJ.

BMC Med Genomics. 2017 Feb 23;10(1):10. doi: 10.1186/s12920-017-0246-5.

17.

Opportunities and challenges of whole-genome and -exome sequencing.

Petersen BS, Fredrich B, Hoeppner MP, Ellinghaus D, Franke A.

BMC Genet. 2017 Feb 14;18(1):14. doi: 10.1186/s12863-017-0479-5. Review.

18.

GPRC6A: Jack of all metabolism (or master of none).

Pi M, Nishimoto SK, Quarles LD.

Mol Metab. 2016 Dec 21;6(2):185-193. doi: 10.1016/j.molmet.2016.12.006. eCollection 2017 Feb. Review.

19.

Decay of Sexual Trait Genes in an Asexual Parasitoid Wasp.

Kraaijeveld K, Anvar SY, Frank J, Schmitz A, Bast J, Wilbrandt J, Petersen M, Ziesmann T, Niehuis O, de Knijff P, den Dunnen JT, Ellers J.

Genome Biol Evol. 2016 Dec 1;8(12):3685-3695. doi: 10.1093/gbe/evw273.

20.

Accurately annotate compound effects of genetic variants using a context-sensitive framework.

Cheng SJ, Shi FY, Liu H, Ding Y, Jiang S, Liang N, Gao G.

Nucleic Acids Res. 2017 Jun 2;45(10):e82. doi: 10.1093/nar/gkx041.

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