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Items: 1 to 20 of 58

1.

Guidelines for investigating causality of sequence variants in human disease.

MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, Sunyaev SR, Valle D, Voight BF, Winckler W, Gunter C.

Nature. 2014 Apr 24;508(7497):469-76. doi: 10.1038/nature13127.

2.

Analysis of a purported SHANK3 mutation in a boy with autism: clinical impact of rare variant research in neurodevelopmental disabilities.

Kolevzon A, Cai G, Soorya L, Takahashi N, Grodberg D, Kajiwara Y, Willner JP, Tryfon A, Buxbaum JD.

Brain Res. 2011 Mar 22;1380:98-105. doi: 10.1016/j.brainres.2010.11.005. Epub 2010 Nov 6. Review.

PMID:
21062623
3.

In search of genetic precision.

[No authors listed]

Lancet. 2003 Feb 1;361(9355):357. No abstract available.

PMID:
12573365
4.

Exceptions to the rule: case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes.

Rosenthal ET, Bowles KR, Pruss D, van Kan A, Vail PJ, McElroy H, Wenstrup RJ.

Clin Genet. 2015 Dec;88(6):533-41. doi: 10.1111/cge.12560. Epub 2015 Feb 11.

PMID:
25639900
5.

Evaluating candidate genes in common epilepsies and the nature of evidence.

Pal DK, Strug LJ, Greenberg DA.

Epilepsia. 2008 Mar;49(3):386-92. Epub 2007 Nov 19. Review.

6.

Presence of epilepsy-associated variants in large exome databases.

Cherepanova NS, Leslie E, Ferguson PJ, Bamshad MJ, Bassuk AG.

J Neurogenet. 2013 Jun;27(1-2):1-4. doi: 10.3109/01677063.2013.772176. Epub 2013 Mar 25.

7.

Integrating epidemiology and genetic association: the challenge of gene-environment interaction.

Kraft P, Hunter D.

Philos Trans R Soc Lond B Biol Sci. 2005 Aug 29;360(1460):1609-16. Review.

8.

A full-likelihood method for the evaluation of causality of sequence variants from family data.

Thompson D, Easton DF, Goldgar DE.

Am J Hum Genet. 2003 Sep;73(3):652-5. Epub 2003 Jul 29.

9.

Guidelines for translational research in heart failure.

Lara-Pezzi E, Menasché P, Trouvin JH, Badimón L, Ioannidis JP, Wu JC, Hill JA, Koch WJ, De Felice AF, de Waele P, Steenwinckel V, Hajjar RJ, Zeiher AM.

J Cardiovasc Transl Res. 2015 Feb;8(1):3-22. doi: 10.1007/s12265-015-9606-8. Epub 2015 Jan 21.

PMID:
25604959
10.

Introduction to deep sequencing and its application to drug addiction research with a focus on rare variants.

Wang S, Yang Z, Ma JZ, Payne TJ, Li MD.

Mol Neurobiol. 2014 Feb;49(1):601-14. doi: 10.1007/s12035-013-8541-4. Epub 2013 Aug 30. Review.

11.

How many genes underlie the occurrence of common complex diseases in the population?

Yang Q, Khoury MJ, Friedman J, Little J, Flanders WD.

Int J Epidemiol. 2005 Oct;34(5):1129-37. Epub 2005 Jul 25.

PMID:
16043441
12.

Genomic copy number variation, human health, and disease.

Wain LV, Armour JA, Tobin MD.

Lancet. 2009 Jul 25;374(9686):340-50. doi: 10.1016/S0140-6736(09)60249-X. Epub 2009 Jun 15. Review.

PMID:
19535135
13.

Genomic Sequence Variation Markup Language (GSVML).

Nakaya J, Kimura M, Hiroi K, Ido K, Yang W, Tanaka H.

Int J Med Inform. 2010 Feb;79(2):130-42. doi: 10.1016/j.ijmedinf.2009.11.003. Epub 2009 Dec 6.

PMID:
19969503
14.

Rare variants and cardiovascular disease.

Wain LV.

Brief Funct Genomics. 2014 Sep;13(5):384-91. doi: 10.1093/bfgp/elu010. Epub 2014 Apr 26. Review.

PMID:
24771349
15.

Medical DNA sequencing.

Marian AJ.

Curr Opin Cardiol. 2011 May;26(3):175-80. doi: 10.1097/HCO.0b013e3283459857. Review.

16.

Challenges in the identification and use of rare disease-associated predisposition variants.

Carvajal-Carmona LG.

Curr Opin Genet Dev. 2010 Jun;20(3):277-81. Review.

PMID:
20564784
17.

Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.

Pan S, Caleshu CA, Dunn KE, Foti MJ, Moran MK, Soyinka O, Ashley EA.

Circ Cardiovasc Genet. 2012 Dec;5(6):602-10. doi: 10.1161/CIRCGENETICS.112.963421. Epub 2012 Oct 16.

18.
19.

Strengthening the reporting of genetic risk prediction studies: the GRIPS statement.

Janssens AC, Ioannidis JP, van Duijn CM, Little J, Khoury MJ; GRIPS Group.

Eur J Clin Invest. 2011 Sep;41(9):1004-9. doi: 10.1111/j.1365-2362.2011.02494.x. Epub 2011 Mar 15.

PMID:
21434891
20.

Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm.

Farlow JL, Lin H, Sauerbeck L, Lai D, Koller DL, Pugh E, Hetrick K, Ling H, Kleinloog R, van der Vlies P, Deelen P, Swertz MA, Verweij BH, Regli L, Rinkel GJ, Ruigrok YM, Doheny K, Liu Y, Broderick J, Foroud T; FIA Study Investigators.

PLoS One. 2015 Mar 24;10(3):e0121104. doi: 10.1371/journal.pone.0121104. eCollection 2015.

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