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Items: 1 to 20 of 150

1.

Direct-to-consumer testing: if consumers are not anxious, why are policymakers?

Caulfield T.

Hum Genet. 2011 Jul;130(1):23-5. doi: 10.1007/s00439-011-0987-8. Epub 2011 Apr 11.

PMID:
21479954
2.

Genome Medicine: past, present and future.

Auffray C, Caulfield T, Khoury MJ, Lupski JR, Schwab M, Veenstra T.

Genome Med. 2011 Jan 31;3(1):6. doi: 10.1186/gm220. No abstract available.

3.

Identification of incestuous parental relationships by SNP-based DNA microarrays.

Schaaf CP, Scott DA, Wiszniewska J, Beaudet AL.

Lancet. 2011 Feb 12;377(9765):555-6. doi: 10.1016/S0140-6736(11)60201-8. No abstract available. Erratum in: Lancet. 2011 Mar 5;377(9768):812.

PMID:
21315943
4.

Mapping copy number variation by population-scale genome sequencing.

Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang S, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HY, Leng J, Li R, Li Y, Lin CY, Luo R, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi X, Stromberg MP, Stütz AM, Urban AE, Walker JA, Wu J, Zhang Y, Zhang ZD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Ye K, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, Korbel JO; 1000 Genomes Project.

Nature. 2011 Feb 3;470(7332):59-65. doi: 10.1038/nature09708.

5.

An intragenic duplication in guanosine triphosphate cyclohydrolase-1 gene in a dopa-responsive dystonia family.

Ling H, Polke JM, Sweeney MG, Haworth A, Sandford CA, Heales SJ, Wood NW, Davis MB, Lees AJ.

Mov Disord. 2011 Apr;26(5):905-9. doi: 10.1002/mds.23593. Epub 2011 Feb 1.

PMID:
21287604
6.

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy.

Pegoraro E, Hoffman EP, Piva L, Gavassini BF, Cagnin S, Ermani M, Bello L, Soraru G, Pacchioni B, Bonifati MD, Lanfranchi G, Angelini C, Kesari A, Lee I, Gordish-Dressman H, Devaney JM, McDonald CM; Cooperative International Neuromuscular Research Group.

Neurology. 2011 Jan 18;76(3):219-26. doi: 10.1212/WNL.0b013e318207afeb. Epub 2010 Dec 22.

7.

Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.

Worthey EA, Mayer AN, Syverson GD, Helbling D, Bonacci BB, Decker B, Serpe JM, Dasu T, Tschannen MR, Veith RL, Basehore MJ, Broeckel U, Tomita-Mitchell A, Arca MJ, Casper JT, Margolis DA, Bick DP, Hessner MJ, Routes JM, Verbsky JW, Jacob HJ, Dimmock DP.

Genet Med. 2011 Mar;13(3):255-62. doi: 10.1097/GIM.0b013e3182088158.

PMID:
21173700
8.

The $1,000 genome, the $100,000 analysis?

Mardis ER.

Genome Med. 2010 Nov 26;2(11):84. doi: 10.1186/gm205. No abstract available.

9.

Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.

Gundesli H, Talim B, Korkusuz P, Balci-Hayta B, Cirak S, Akarsu NA, Topaloglu H, Dincer P.

Am J Hum Genet. 2010 Dec 10;87(6):834-41. doi: 10.1016/j.ajhg.2010.10.017. Epub 2010 Nov 25.

10.

New mutations and intellectual function.

Lupski JR.

Nat Genet. 2010 Dec;42(12):1036-8. doi: 10.1038/ng1210-1036. No abstract available.

PMID:
21102619
11.

The genetics of epilepsy--the past, the present and future.

Rees MI.

Seizure. 2010 Dec;19(10):680-3. doi: 10.1016/j.seizure.2010.10.029. Epub 2010 Nov 20. Review.

12.

A de novo paradigm for mental retardation.

Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA.

Nat Genet. 2010 Dec;42(12):1109-12. doi: 10.1038/ng.712. Epub 2010 Nov 14.

PMID:
21076407
13.

A map of human genome variation from population-scale sequencing.

1000 Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA.

Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Erratum in: Nature. 2011 May 26;473(7348):544. Xue, Yali [added]; Cartwright, Reed A [added]; Altshuler, David L [corrected to Altshuler, David]; Kebbel, Andrew [corrected to Keebler, Jonathan]; Koko-Gonzales, Paula [corrected to Kokko-Gonzales, Paula]; Nickerson, Debbie A [corrected to Nickerson, Deborah A].

14.

Timing of de novo mutagenesis--a twin study of sodium-channel mutations.

Vadlamudi L, Dibbens LM, Lawrence KM, Iona X, McMahon JM, Murrell W, Mackay-Sim A, Scheffer IE, Berkovic SF.

N Engl J Med. 2010 Sep 30;363(14):1335-40. doi: 10.1056/NEJMoa0910752.

15.

Detection of clinically relevant exonic copy-number changes by array CGH.

Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P.

Hum Mutat. 2010 Dec;31(12):1326-42. doi: 10.1002/humu.21360. Epub 2010 Nov 2.

16.

Integrating common and rare genetic variation in diverse human populations.

International HapMap 3 Consortium, Altshuler DM, Gibbs RA, Peltonen L, Altshuler DM, Gibbs RA, Peltonen L, Dermitzakis E, Schaffner SF, Yu F, Peltonen L, Dermitzakis E, Bonnen PE, Altshuler DM, Gibbs RA, de Bakker PI, Deloukas P, Gabriel SB, Gwilliam R, Hunt S, Inouye M, Jia X, Palotie A, Parkin M, Whittaker P, Yu F, Chang K, Hawes A, Lewis LR, Ren Y, Wheeler D, Gibbs RA, Muzny DM, Barnes C, Darvishi K, Hurles M, Korn JM, Kristiansson K, Lee C, McCarrol SA, Nemesh J, Dermitzakis E, Keinan A, Montgomery SB, Pollack S, Price AL, Soranzo N, Bonnen PE, Gibbs RA, Gonzaga-Jauregui C, Keinan A, Price AL, Yu F, Anttila V, Brodeur W, Daly MJ, Leslie S, McVean G, Moutsianas L, Nguyen H, Schaffner SF, Zhang Q, Ghori MJ, McGinnis R, McLaren W, Pollack S, Price AL, Schaffner SF, Takeuchi F, Grossman SR, Shlyakhter I, Hostetter EB, Sabeti PC, Adebamowo CA, Foster MW, Gordon DR, Licinio J, Manca MC, Marshall PA, Matsuda I, Ngare D, Wang VO, Reddy D, Rotimi CN, Royal CD, Sharp RR, Zeng C, Brooks LD, McEwen JE.

Nature. 2010 Sep 2;467(7311):52-8. doi: 10.1038/nature09298.

17.

A ChIP-seq defined genome-wide map of vitamin D receptor binding: associations with disease and evolution.

Ramagopalan SV, Heger A, Berlanga AJ, Maugeri NJ, Lincoln MR, Burrell A, Handunnetthi L, Handel AE, Disanto G, Orton SM, Watson CT, Morahan JM, Giovannoni G, Ponting CP, Ebers GC, Knight JC.

Genome Res. 2010 Oct;20(10):1352-60. doi: 10.1101/gr.107920.110. Epub 2010 Aug 24.

18.

Multiple chronic pain states are associated with a common amino acid-changing allele in KCNS1.

Costigan M, Belfer I, Griffin RS, Dai F, Barrett LB, Coppola G, Wu T, Kiselycznyk C, Poddar M, Lu Y, Diatchenko L, Smith S, Cobos EJ, Zaykin D, Allchorne A, Gershon E, Livneh J, Shen PH, Nikolajsen L, Karppinen J, Männikkö M, Kelempisioti A, Goldman D, Maixner W, Geschwind DH, Max MB, Seltzer Z, Woolf CJ.

Brain. 2010 Sep;133(9):2519-27. doi: 10.1093/brain/awq195. Epub 2010 Aug 18. Erratum in: Brain. 2011 Jul;134(7):2186. Gershon, Edith [added]; Livneh, Jessica [added].

19.

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J.

Nat Genet. 2010 Sep;42(9):790-3. doi: 10.1038/ng.646. Epub 2010 Aug 15.

20.

Susceptibility to chronic pain following nerve injury is genetically affected by CACNG2.

Nissenbaum J, Devor M, Seltzer Z, Gebauer M, Michaelis M, Tal M, Dorfman R, Abitbul-Yarkoni M, Lu Y, Elahipanah T, delCanho S, Minert A, Fried K, Persson AK, Shpigler H, Shabo E, Yakir B, Pisanté A, Darvasi A.

Genome Res. 2010 Sep;20(9):1180-90. doi: 10.1101/gr.104976.110. Epub 2010 Aug 5.

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