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Results: 1 to 20 of 21

Cited In for PubMed (Select 22628075)

1.

Fruit flies in biomedical research.

Wangler MF, Yamamoto S, Bellen HJ.

Genetics. 2015 Mar;199(3):639-53. doi: 10.1534/genetics.114.171785. Epub 2015 Jan 26.

PMID:
25624315
2.

Reducing INDEL calling errors in whole genome and exome sequencing data.

Fang H, Wu Y, Narzisi G, O'Rawe JA, Barrón LT, Rosenbaum J, Ronemus M, Iossifov I, Schatz MC, Lyon GJ.

Genome Med. 2014 Oct 28;6(10):89. doi: 10.1186/s13073-014-0089-z. eCollection 2014.

3.

Molecular findings among patients referred for clinical whole-exome sequencing.

Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, Ward P, Braxton A, Wang M, Buhay C, Veeraraghavan N, Hawes A, Chiang T, Leduc M, Beuten J, Zhang J, He W, Scull J, Willis A, Landsverk M, Craigen WJ, Bekheirnia MR, Stray-Pedersen A, Liu P, Wen S, Alcaraz W, Cui H, Walkiewicz M, Reid J, Bainbridge M, Patel A, Boerwinkle E, Beaudet AL, Lupski JR, Plon SE, Gibbs RA, Eng CM.

JAMA. 2014 Nov 12;312(18):1870-9. doi: 10.1001/jama.2014.14601.

4.

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LE, de Ligt J, Jhangiani SN, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny D, Wan YW, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ.

Cell. 2014 Sep 25;159(1):200-14. doi: 10.1016/j.cell.2014.09.002.

PMID:
25259927
5.

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

6.

The impact of population demography and selection on the genetic architecture of complex traits.

Lohmueller KE.

PLoS Genet. 2014 May 29;10(5):e1004379. doi: 10.1371/journal.pgen.1004379. eCollection 2014.

7.

Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing.

Yu JH, Crouch J, Jamal SM, Bamshad MJ, Tabor HK.

Am J Med Genet A. 2014 Sep;164A(9):2153-60. doi: 10.1002/ajmg.a.36610. Epub 2014 May 20.

8.

Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia.

Gonzaga-Jauregui C, Mir S, Penney S, Jhangiani S, Midgen C, Finegold M, Muzny DM, Wang M, Bacino CA, Gibbs RA, Lupski JR, Kellermayer R, Hanchard NA.

J Pediatr Gastroenterol Nutr. 2014 Jul;59(1):17-21. doi: 10.1097/MPG.0000000000000363.

9.

Whole-exome sequencing of 2,000 Danish individuals and the role of rare coding variants in type 2 diabetes.

Lohmueller KE, Sparsø T, Li Q, Andersson E, Korneliussen T, Albrechtsen A, Banasik K, Grarup N, Hallgrimsdottir I, Kiil K, Kilpeläinen TO, Krarup NT, Pers TH, Sanchez G, Hu Y, Degiorgio M, Jørgensen T, Sandbæk A, Lauritzen T, Brunak S, Kristiansen K, Li Y, Hansen T, Wang J, Nielsen R, Pedersen O.

Am J Hum Genet. 2013 Dec 5;93(6):1072-86. doi: 10.1016/j.ajhg.2013.11.005. Epub 2013 Nov 27. Erratum in: Am J Hum Genet. 2014 Mar 6;94(3):479.

10.

Massively parallel sequencing: the new frontier of hematologic genomics.

Johnsen JM, Nickerson DA, Reiner AP.

Blood. 2013 Nov 7;122(19):3268-75. doi: 10.1182/blood-2013-07-460287. Epub 2013 Sep 10. Review.

11.

Self-guided management of exome and whole-genome sequencing results: changing the results return model.

Yu JH, Jamal SM, Tabor HK, Bamshad MJ.

Genet Med. 2013 Sep;15(9):684-90. doi: 10.1038/gim.2013.35. Epub 2013 Apr 25.

12.

Attitudes of African Americans toward return of results from exome and whole genome sequencing.

Yu JH, Crouch J, Jamal SM, Tabor HK, Bamshad MJ.

Am J Med Genet A. 2013 May;161A(5):1064-72. doi: 10.1002/ajmg.a.35914.

13.

Practices and policies of clinical exome sequencing providers: analysis and implications.

Jamal SM, Yu JH, Chong JX, Dent KM, Conta JH, Tabor HK, Bamshad MJ.

Am J Med Genet A. 2013 May;161A(5):935-50. doi: 10.1002/ajmg.a.35942.

14.

Hunting human disease genes: lessons from the past, challenges for the future.

Brunham LR, Hayden MR.

Hum Genet. 2013 Jun;132(6):603-17. doi: 10.1007/s00439-013-1286-3. Epub 2013 Mar 17. Review.

15.

PhenoDB: a new web-based tool for the collection, storage, and analysis of phenotypic features.

Hamosh A, Sobreira N, Hoover-Fong J, Sutton VR, Boehm C, Schiettecatte F, Valle D.

Hum Mutat. 2013 Apr;34(4):566-71. doi: 10.1002/humu.22283. Epub 2013 Mar 4.

16.

A survey of tools for variant analysis of next-generation genome sequencing data.

Pabinger S, Dander A, Fischer M, Snajder R, Sperk M, Efremova M, Krabichler B, Speicher MR, Zschocke J, Trajanoski Z.

Brief Bioinform. 2014 Mar;15(2):256-78. doi: 10.1093/bib/bbs086. Epub 2013 Jan 21.

17.

Implementing genomic medicine in the clinic: the future is here.

Manolio TA, Chisholm RL, Ozenberger B, Roden DM, Williams MS, Wilson R, Bick D, Bottinger EP, Brilliant MH, Eng C, Frazer KA, Korf B, Ledbetter DH, Lupski JR, Marsh C, Mrazek D, Murray MF, O'Donnell PH, Rader DJ, Relling MV, Shuldiner AR, Valle D, Weinshilboum R, Green ED, Ginsburg GS.

Genet Med. 2013 Apr;15(4):258-67. doi: 10.1038/gim.2012.157. Epub 2013 Jan 10. Review.

18.

High-throughput sequencing and rare genetic diseases.

Makrythanasis P, Antonarakis SE.

Mol Syndromol. 2012 Nov;3(5):197-203. doi: 10.1159/000343941. Epub 2012 Nov 9.

19.

Applying deep DNA sequencing to common, complex pediatric traits.

Dagle JM, Murray JC.

Pediatrics. 2012 Dec;130(6):e1677-8. doi: 10.1542/peds.2012-2870. Epub 2012 Nov 19. No abstract available.

20.

An integrated map of genetic variation from 1,092 human genomes.

1000 Genomes Project Consortium, Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA.

Nature. 2012 Nov 1;491(7422):56-65. doi: 10.1038/nature11632.

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