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Items: 1 to 20 of 112

1.

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.

2.

Rare and Coding Region Genetic Variants Associated With Risk of Ischemic Stroke: The NHLBI Exome Sequence Project.

Auer PL, Nalls M, Meschia JF, Worrall BB, Longstreth WT Jr, Seshadri S, Kooperberg C, Burger KM, Carlson CS, Carty CL, Chen WM, Cupples LA, DeStefano AL, Fornage M, Hardy J, Hsu L, Jackson RD, Jarvik GP, Kim DS, Lakshminarayan K, Lange LA, Manichaikul A, Quinlan AR, Singleton AB, Thornton TA, Nickerson DA, Peters U, Rich SS; National Heart, Lung, and Blood Institute Exome Sequencing Project.

JAMA Neurol. 2015 Jul;72(7):781-8. doi: 10.1001/jamaneurol.2015.0582.

3.

Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data.

Andreasen C, Refsgaard L, Nielsen JB, Sajadieh A, Winkel BG, Tfelt-Hansen J, Haunsø S, Holst AG, Svendsen JH, Olesen MS.

Can J Cardiol. 2013 Sep;29(9):1104-9. doi: 10.1016/j.cjca.2012.12.002. Epub 2013 Mar 7.

PMID:
23465283
4.

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy.

Heinzen EL, Depondt C, Cavalleri GL, Ruzzo EK, Walley NM, Need AC, Ge D, He M, Cirulli ET, Zhao Q, Cronin KD, Gumbs CE, Campbell CR, Hong LK, Maia JM, Shianna KV, McCormack M, Radtke RA, O'Conner GD, Mikati MA, Gallentine WB, Husain AM, Sinha SR, Chinthapalli K, Puranam RS, McNamara JO, Ottman R, Sisodiya SM, Delanty N, Goldstein DB.

Am J Hum Genet. 2012 Aug 10;91(2):293-302. doi: 10.1016/j.ajhg.2012.06.016. Epub 2012 Aug 2.

5.

Rare variant associations with waist-to-hip ratio in European-American and African-American women from the NHLBI-Exome Sequencing Project.

Kan M, Auer PL, Wang GT, Bucasas KL, Hooker S, Rodriguez A, Li B, Ellis J, Adrienne Cupples L, Ida Chen YD, Dupuis J, Fox CS, Gross MD, Smith JD, Heard-Costa N, Meigs JB, Pankow JS, Rotter JI, Siscovick D, Wilson JG, Shendure J, Jackson R, Peters U, Zhong H, Lin D, Hsu L, Franceschini N, Carlson C, Abecasis G, Gabriel S, Bamshad MJ, Altshuler D, Nickerson DA, North KE, Lange LA, Reiner AP; NHLBI-Exome Sequencing Project, Leal SM.

Eur J Hum Genet. 2016 Aug;24(8):1181-7. doi: 10.1038/ejhg.2015.272. Epub 2016 Jan 13.

6.

BioBin: a bioinformatics tool for automating the binning of rare variants using publicly available biological knowledge.

Moore CB, Wallace JR, Frase AT, Pendergrass SA, Ritchie MD.

BMC Med Genomics. 2013;6 Suppl 2:S6. doi: 10.1186/1755-8794-6-S2-S6. Epub 2013 May 7.

7.

Genetic Misdiagnoses and the Potential for Health Disparities.

Manrai AK, Funke BH, Rehm HL, Olesen MS, Maron BA, Szolovits P, Margulies DM, Loscalzo J, Kohane IS.

N Engl J Med. 2016 Aug 18;375(7):655-65. doi: 10.1056/NEJMsa1507092.

8.

Using reference databases of genetic variation to evaluate the potential pathogenicity of candidate disease variants.

Kenna KP, McLaughlin RL, Hardiman O, Bradley DG.

Hum Mutat. 2013 Jun;34(6):836-41. doi: 10.1002/humu.22303. Epub 2013 Mar 26.

PMID:
23447461
9.

Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.

Tabor HK, Auer PL, Jamal SM, Chong JX, Yu JH, Gordon AS, Graubert TA, O'Donnell CJ, Rich SS, Nickerson DA; NHLBI Exome Sequencing Project, Bamshad MJ.

Am J Hum Genet. 2014 Aug 7;95(2):183-93. doi: 10.1016/j.ajhg.2014.07.006. Epub 2014 Jul 31.

10.

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.

Leu C, Balestrini S, Maher B, Hernández-Hernández L, Gormley P, Hämäläinen E, Heggeli K, Schoeler N, Novy J, Willis J, Plagnol V, Ellis R, Reavey E, O'Regan M, Pickrell WO, Thomas RH, Chung SK, Delanty N, McMahon JM, Malone S, Sadleir LG, Berkovic SF, Nashef L, Zuberi SM, Rees MI, Cavalleri GL, Sander JW, Hughes E, Helen Cross J, Scheffer IE, Palotie A, Sisodiya SM.

EBioMedicine. 2015 Jul 10;2(9):1063-70. doi: 10.1016/j.ebiom.2015.07.005. eCollection 2015 Sep.

11.

New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.

Jabbari J, Jabbari R, Nielsen MW, Holst AG, Nielsen JB, Haunsø S, Tfelt-Hansen J, Svendsen JH, Olesen MS.

Circ Cardiovasc Genet. 2013 Oct;6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. Epub 2013 Sep 11.

12.

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.

Epi4K consortium; Epilepsy Phenome/Genome Project.

Lancet Neurol. 2017 Feb;16(2):135-143. doi: 10.1016/S1474-4422(16)30359-3.

PMID:
28102150
13.

A variational Bayes discrete mixture test for rare variant association.

Logsdon BA, Dai JY, Auer PL, Johnsen JM, Ganesh SK, Smith NL, Wilson JG, Tracy RP, Lange LA, Jiao S, Rich SS, Lettre G, Carlson CS, Jackson RD, O'Donnell CJ, Wurfel MM, Nickerson DA, Tang H, Reiner AP, Kooperberg C; NHLBI GO Exome Sequencing Project.

Genet Epidemiol. 2014 Jan;38(1):21-30.

14.

Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans.

Du M, Auer PL, Jiao S, Haessler J, Altshuler D, Boerwinkle E, Carlson CS, Carty CL, Chen YD, Curtis K, Franceschini N, Hsu L, Jackson R, Lange LA, Lettre G, Monda KL; National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project, Nickerson DA, Reiner AP, Rich SS, Rosse SA, Rotter JI, Willer CJ, Wilson JG, North K, Kooperberg C, Heard-Costa N, Peters U.

Hum Mol Genet. 2014 Dec 15;23(24):6607-15. doi: 10.1093/hmg/ddu361. Epub 2014 Jul 15.

15.

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.

16.

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

Shearer AE, Eppsteiner RW, Booth KT, Ephraim SS, Gurrola J 2nd, Simpson A, Black-Ziegelbein EA, Joshi S, Ravi H, Giuffre AC, Happe S, Hildebrand MS, Azaiez H, Bayazit YA, Erdal ME, Lopez-Escamez JA, Gazquez I, Tamayo ML, Gelvez NY, Leal GL, Jalas C, Ekstein J, Yang T, Usami S, Kahrizi K, Bazazzadegan N, Najmabadi H, Scheetz TE, Braun TA, Casavant TL, LeProust EM, Smith RJ.

Am J Hum Genet. 2014 Oct 2;95(4):445-53. doi: 10.1016/j.ajhg.2014.09.001. Epub 2014 Sep 25.

17.

Association of exome sequences with plasma C-reactive protein levels in >9000 participants.

Schick UM, Auer PL, Bis JC, Lin H, Wei P, Pankratz N, Lange LA, Brody J, Stitziel NO, Kim DS, Carlson CS, Fornage M, Haessler J, Hsu L, Jackson RD, Kooperberg C, Leal SM, Psaty BM, Boerwinkle E, Tracy R, Ardissino D, Shah S, Willer C, Loos R, Melander O, Mcpherson R, Hovingh K, Reilly M, Watkins H, Girelli D, Fontanillas P, Chasman DI, Gabriel SB, Gibbs R, Nickerson DA, Kathiresan S, Peters U, Dupuis J, Wilson JG, Rich SS, Morrison AC, Benjamin EJ, Gross MD, Reiner AP; Cohorts for Heart and Aging Research in Genomic Epidemiology; National Heart, Lung, and Blood Institute GO Exome Sequencing Project.

Hum Mol Genet. 2015 Jan 15;24(2):559-71. doi: 10.1093/hmg/ddu450. Epub 2014 Sep 3.

18.

Exome Sequencing of Familial Bipolar Disorder.

Goes FS, Pirooznia M, Parla JS, Kramer M, Ghiban E, Mavruk S, Chen YC, Monson ET, Willour VL, Karchin R, Flickinger M, Locke AE, Levy SE, Scott LJ, Boehnke M, Stahl E, Moran JL, Hultman CM, Landén M, Purcell SM, Sklar P, Zandi PP, McCombie WR, Potash JB.

JAMA Psychiatry. 2016 Jun 1;73(6):590-7. doi: 10.1001/jamapsychiatry.2016.0251.

19.

Genetic screening and diagnosis in epilepsy?

Sisodiya SM.

Curr Opin Neurol. 2015 Apr;28(2):136-42. doi: 10.1097/WCO.0000000000000180. Review.

PMID:
25692410
20.

Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, McGee S, Do R, Liu X, Jun G, Kang HM, Jordan D, Leal SM, Gabriel S, Rieder MJ, Abecasis G, Altshuler D, Nickerson DA, Boerwinkle E, Sunyaev S, Bustamante CD, Bamshad MJ, Akey JM; Broad GO; Seattle GO; NHLBI Exome Sequencing Project.

Science. 2012 Jul 6;337(6090):64-9. doi: 10.1126/science.1219240. Epub 2012 May 17.

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