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Items: 41

1.

Assessment of rosacea symptom severity by genome-wide association study and expression analysis highlights immuno-inflammatory and skin pigmentation genes.

Aponte JL, Chiano MN, Yerges-Armstrong LM, Hinds DA, Tian C, Gupta A, Guo C, Fraser DJ, Freudenberg JM, Rajpal DK, Ehm MG, Waterworth DM.

Hum Mol Genet. 2018 Aug 1;27(15):2762-2772. doi: 10.1093/hmg/ddy184.

2.

Phenome-wide association study using research participants' self-reported data provides insight into the Th17 and IL-17 pathway.

Ehm MG, Aponte JL, Chiano MN, Yerges-Armstrong LM, Johnson T, Barker JN, Cook SF, Gupta A, Hinds DA, Li L, Nelson MR, Simpson MA, Tian C, McCarthy LC, Rajpal DK, Waterworth DM.

PLoS One. 2017 Nov 1;12(11):e0186405. doi: 10.1371/journal.pone.0186405. eCollection 2017.

3.

Characterization of ADME gene variation in 21 populations by exome sequencing.

Hovelson DH, Xue Z, Zawistowski M, Ehm MG, Harris EC, Stocker SL, Gross AS, Jang IJ, Ieiri I, Lee JE, Cardon LR, Chissoe SL, Abecasis G, Nelson MR.

Pharmacogenet Genomics. 2017 Mar;27(3):89-100. doi: 10.1097/FPC.0000000000000260.

4.

A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease.

Scott RA, Freitag DF, Li L, Chu AY, Surendran P, Young R, Grarup N, Stancáková A, Chen Y, Varga TV, Yaghootkar H, Luan J, Zhao JH, Willems SM, Wessel J, Wang S, Maruthur N, Michailidou K, Pirie A, van der Lee SJ, Gillson C, Al Olama AA, Amouyel P, Arriola L, Arveiler D, Aviles-Olmos I, Balkau B, Barricarte A, Barroso I, Garcia SB, Bis JC, Blankenberg S, Boehnke M, Boeing H, Boerwinkle E, Borecki IB, Bork-Jensen J, Bowden S, Caldas C, Caslake M; CVD50 consortium, Cupples LA, Cruchaga C, Czajkowski J, den Hoed M, Dunn JA, Earl HM, Ehret GB, Ferrannini E, Ferrieres J, Foltynie T, Ford I, Forouhi NG, Gianfagna F, Gonzalez C, Grioni S, Hiller L, Jansson JH, Jørgensen ME, Jukema JW, Kaaks R, Kee F, Kerrison ND, Key TJ, Kontto J, Kote-Jarai Z, Kraja AT, Kuulasmaa K, Kuusisto J, Linneberg A, Liu C, Marenne G, Mohlke KL, Morris AP, Muir K, Müller-Nurasyid M, Munroe PB, Navarro C, Nielsen SF, Nilsson PM, Nordestgaard BG, Packard CJ, Palli D, Panico S, Peloso GM, Perola M, Peters A, Poole CJ, Quirós JR, Rolandsson O, Sacerdote C, Salomaa V, Sánchez MJ, Sattar N, Sharp SJ, Sims R, Slimani N, Smith JA, Thompson DJ, Trompet S, Tumino R, van der A DL, van der Schouw YT, Virtamo J, Walker M, Walter K; GERAD_EC Consortium; Neurology Working Group of the Cohorts for Heart; Aging Research in Genomic Epidemiology (CHARGE); Alzheimer’s Disease Genetics Consortium; Pancreatic Cancer Cohort Consortium; European Prospective Investigation into Cancer and Nutrition–Cardiovascular Disease (EPIC-CVD); EPIC-InterAct, Abraham JE, Amundadottir LT, Aponte JL, Butterworth AS, Dupuis J, Easton DF, Eeles RA, Erdmann J, Franks PW, Frayling TM, Hansen T, Howson JM, Jørgensen T, Kooner J, Laakso M, Langenberg C, McCarthy MI, Pankow JS, Pedersen O, Riboli E, Rotter JI, Saleheen D, Samani NJ, Schunkert H, Vollenweider P, O'Rahilly S; CHARGE consortium; CHD Exome+ Consortium; CARDIOGRAM Exome Consortium, Deloukas P, Danesh J, Goodarzi MO, Kathiresan S, Meigs JB, Ehm MG, Wareham NJ, Waterworth DM.

Sci Transl Med. 2016 Jun 1;8(341):341ra76. doi: 10.1126/scitranslmed.aad3744.

5.

Comparing variant calling algorithms for target-exon sequencing in a large sample.

Lo Y, Kang HM, Nelson MR, Othman MI, Chissoe SL, Ehm MG, Abecasis GR, Zöllner S.

BMC Bioinformatics. 2015 Mar 7;16:75. doi: 10.1186/s12859-015-0489-0.

6.

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.

Wessel J, Chu AY, Willems SM, Wang S, Yaghootkar H, Brody JA, Dauriz M, Hivert MF, Raghavan S, Lipovich L, Hidalgo B, Fox K, Huffman JE, An P, Lu Y, Rasmussen-Torvik LJ, Grarup N, Ehm MG, Li L, Baldridge AS, Stančáková A, Abrol R, Besse C, Boland A, Bork-Jensen J, Fornage M, Freitag DF, Garcia ME, Guo X, Hara K, Isaacs A, Jakobsdottir J, Lange LA, Layton JC, Li M, Hua Zhao J, Meidtner K, Morrison AC, Nalls MA, Peters MJ, Sabater-Lleal M, Schurmann C, Silveira A, Smith AV, Southam L, Stoiber MH, Strawbridge RJ, Taylor KD, Varga TV, Allin KH, Amin N, Aponte JL, Aung T, Barbieri C, Bihlmeyer NA, Boehnke M, Bombieri C, Bowden DW, Burns SM, Chen Y, Chen YD, Cheng CY, Correa A, Czajkowski J, Dehghan A, Ehret GB, Eiriksdottir G, Escher SA, Farmaki AE, Frånberg M, Gambaro G, Giulianini F, Goddard WA 3rd, Goel A, Gottesman O, Grove ML, Gustafsson S, Hai Y, Hallmans G, Heo J, Hoffmann P, Ikram MK, Jensen RA, Jørgensen ME, Jørgensen T, Karaleftheri M, Khor CC, Kirkpatrick A, Kraja AT, Kuusisto J, Lange EM, Lee IT, Lee WJ, Leong A, Liao J, Liu C, Liu Y, Lindgren CM, Linneberg A, Malerba G, Mamakou V, Marouli E, Maruthur NM, Matchan A, McKean-Cowdin R, McLeod O, Metcalf GA, Mohlke KL, Muzny DM, Ntalla I, Palmer ND, Pasko D, Peter A, Rayner NW, Renström F, Rice K, Sala CF, Sennblad B, Serafetinidis I, Smith JA, Soranzo N, Speliotes EK, Stahl EA, Stirrups K, Tentolouris N, Thanopoulou A, Torres M, Traglia M, Tsafantakis E, Javad S, Yanek LR, Zengini E, Becker DM, Bis JC, Brown JB, Cupples LA, Hansen T, Ingelsson E, Karter AJ, Lorenzo C, Mathias RA, Norris JM, Peloso GM, Sheu WH, Toniolo D, Vaidya D, Varma R, Wagenknecht LE, Boeing H, Bottinger EP, Dedoussis G, Deloukas P, Ferrannini E, Franco OH, Franks PW, Gibbs RA, Gudnason V, Hamsten A, Harris TB, Hattersley AT, Hayward C, Hofman A, Jansson JH, Langenberg C, Launer LJ, Levy D, Oostra BA, O'Donnell CJ, O'Rahilly S, Padmanabhan S, Pankow JS, Polasek O, Province MA, Rich SS, Ridker PM, Rudan I, Schulze MB, Smith BH, Uitterlinden AG, Walker M, Watkins H, Wong TY, Zeggini E; EPIC-InterAct Consortium, Laakso M, Borecki IB, Chasman DI, Pedersen O, Psaty BM, Tai ES, van Duijn CM, Wareham NJ, Waterworth DM, Boerwinkle E, Kao WH, Florez JC, Loos RJ, Wilson JG, Frayling TM, Siscovick DS, Dupuis J, Rotter JI, Meigs JB, Scott RA, Goodarzi MO.

Nat Commun. 2015 Jan 29;6:5897. doi: 10.1038/ncomms6897.

7.

A low-frequency variant in MAPK14 provides mechanistic evidence of a link with myeloperoxidase: a prognostic cardiovascular risk marker.

Waterworth DM, Li L, Scott R, Warren L, Gillson C, Aponte J, Sarov-Blat L, Sprecher D, Dupuis J, Reiner A, Psaty BM, Tracy RP, Lin H, McPherson R, Chissoe S, Wareham N, Ehm MG.

J Am Heart Assoc. 2014 Aug 27;3(4). pii: e001074. doi: 10.1161/JAHA.114.001074.

8.

Analysis of rare variant population structure in Europeans explains differential stratification of gene-based tests.

Zawistowski M, Reppell M, Wegmann D, St Jean PL, Ehm MG, Nelson MR, Novembre J, Zöllner S.

Eur J Hum Genet. 2014 Sep;22(9):1137-44. doi: 10.1038/ejhg.2013.297. Epub 2014 Jan 8.

9.

The influence of genomic context on mutation patterns in the human genome inferred from rare variants.

Schaibley VM, Zawistowski M, Wegmann D, Ehm MG, Nelson MR, St Jean PL, Abecasis GR, Novembre J, Zöllner S, Li JZ.

Genome Res. 2013 Dec;23(12):1974-84. doi: 10.1101/gr.154971.113. Epub 2013 Aug 29.

10.

HIBAG--HLA genotype imputation with attribute bagging.

Zheng X, Shen J, Cox C, Wakefield JC, Ehm MG, Nelson MR, Weir BS.

Pharmacogenomics J. 2014 Apr;14(2):192-200. doi: 10.1038/tpj.2013.18. Epub 2013 May 28.

11.

The benefits of using genetic information to design prevention trials.

Hu Y, Li L, Ehm MG, Bing N, Song K, Nelson MR, Talmud PJ, Hingorani AD, Kumari M, Kivimäki M, Xu CF, Waterworth DM, Whittaker JC, Abecasis GR, Spino C, Kang HM.

Am J Hum Genet. 2013 Apr 4;92(4):547-57. doi: 10.1016/j.ajhg.2013.03.003. Epub 2013 Mar 28.

12.

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people.

Nelson MR, Wegmann D, Ehm MG, Kessner D, St Jean P, Verzilli C, Shen J, Tang Z, Bacanu SA, Fraser D, Warren L, Aponte J, Zawistowski M, Liu X, Zhang H, Zhang Y, Li J, Li Y, Li L, Woollard P, Topp S, Hall MD, Nangle K, Wang J, Abecasis G, Cardon LR, Zöllner S, Whittaker JC, Chissoe SL, Novembre J, Mooser V.

Science. 2012 Jul 6;337(6090):100-4. doi: 10.1126/science.1217876. Epub 2012 May 17.

13.

Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.

Rubio JP, Topp S, Warren L, St Jean PL, Wegmann D, Kessner D, Novembre J, Shen J, Fraser D, Aponte J, Nangle K, Cardon LR, Ehm MG, Chissoe SL, Whittaker JC, Nelson MR, Mooser VE.

Hum Mutat. 2012 Jul;33(7):1087-98. doi: 10.1002/humu.22075. Epub 2012 Apr 4.

14.

Deep resequencing unveils genetic architecture of ADIPOQ and identifies a novel low-frequency variant strongly associated with adiponectin variation.

Warren LL, Li L, Nelson MR, Ehm MG, Shen J, Fraser DJ, Aponte JL, Nangle KL, Slater AJ, Woollard PM, Hall MD, Topp SD, Yuan X, Cardon LR, Chissoe SL, Mooser V, Morris AD, Palmer CN, Perry JR, Frayling TM, Whittaker JC, Waterworth DM.

Diabetes. 2012 May;61(5):1297-301. doi: 10.2337/db11-0985. Epub 2012 Mar 8.

15.

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.

Cruchaga C, Haller G, Chakraverty S, Mayo K, Vallania FL, Mitra RD, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud TM, Boeve BF, Graff-Radford NR, St Jean P, Lawson M, Ehm MG, Mayeux R, Goate AM; NIA-LOAD/NCRAD Family Study Consortium.

PLoS One. 2012;7(2):e31039. doi: 10.1371/journal.pone.0031039. Epub 2012 Feb 1. Erratum in: PLoS One. 2012;7(5): doi/10.1371/annotation/c92e16da-7733-421d-b063-1db19488daa6. Haller, Gabe [added]..

16.

Performance of genotype imputation for rare variants identified in exons and flanking regions of genes.

Li L, Li Y, Browning SR, Browning BL, Slater AJ, Kong X, Aponte JL, Mooser VE, Chissoe SL, Whittaker JC, Nelson MR, Ehm MG.

PLoS One. 2011;6(9):e24945. doi: 10.1371/journal.pone.0024945. Epub 2011 Sep 19.

17.

The Population Reference Sample, POPRES: a resource for population, disease, and pharmacological genetics research.

Nelson MR, Bryc K, King KS, Indap A, Boyko AR, Novembre J, Briley LP, Maruyama Y, Waterworth DM, Waeber G, Vollenweider P, Oksenberg JR, Hauser SL, Stirnadel HA, Kooner JS, Chambers JC, Jones B, Mooser V, Bustamante CD, Roses AD, Burns DK, Ehm MG, Lai EH.

Am J Hum Genet. 2008 Sep;83(3):347-58. doi: 10.1016/j.ajhg.2008.08.005. Epub 2008 Aug 28.

18.

Comparison of association methods for dense marker data.

Bacanu SA, Nelson MR, Ehm MG.

Genet Epidemiol. 2008 Dec;32(8):791-9. doi: 10.1002/gepi.20347.

PMID:
18551558
19.

Genome-wide approaches to identify pharmacogenetic contributions to adverse drug reactions.

Nelson MR, Bacanu SA, Mosteller M, Li L, Bowman CE, Roses AD, Lai EH, Ehm MG.

Pharmacogenomics J. 2009 Feb;9(1):23-33. doi: 10.1038/tpj.2008.4. Epub 2008 Feb 26.

PMID:
18301416
20.

Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.

Li H, Wetten S, Li L, St Jean PL, Upmanyu R, Surh L, Hosford D, Barnes MR, Briley JD, Borrie M, Coletta N, Delisle R, Dhalla D, Ehm MG, Feldman HH, Fornazzari L, Gauthier S, Goodgame N, Guzman D, Hammond S, Hollingworth P, Hsiung GY, Johnson J, Kelly DD, Keren R, Kertesz A, King KS, Lovestone S, Loy-English I, Matthews PM, Owen MJ, Plumpton M, Pryse-Phillips W, Prinjha RK, Richardson JC, Saunders A, Slater AJ, St George-Hyslop PH, Stinnett SW, Swartz JE, Taylor RL, Wherrett J, Williams J, Yarnall DP, Gibson RA, Irizarry MC, Middleton LT, Roses AD.

Arch Neurol. 2008 Jan;65(1):45-53. Epub 2007 Nov 12.

PMID:
17998437
21.
22.

Contrasting linkage-disequilibrium patterns between cases and controls as a novel association-mapping method.

Zaykin DV, Meng Z, Ehm MG.

Am J Hum Genet. 2006 May;78(5):737-746. doi: 10.1086/503710. Epub 2006 Mar 13.

23.

On the utility of data from the International HapMap Project for Australian association studies.

Stankovich J, Cox CJ, Tan RB, Montgomery DS, Huxtable SJ, Rubio JP, Ehm MG, Johnson L, Butzkueven H, Kilpatrick TJ, Speed TP, Roses AD, Bahlo M, Foote SJ.

Hum Genet. 2006 Mar;119(1-2):220-2. Epub 2006 Jan 11.

PMID:
16404587
24.

Guidelines for conducting and reporting whole genome/large-scale association studies.

Ehm MG, Nelson MR, Spurr NK.

Hum Mol Genet. 2005 Sep 1;14(17):2485-8. Epub 2005 Jul 21. No abstract available.

PMID:
16037068
25.

Linkage analysis using single nucleotide polymorphisms.

Browning BL, Brashear DL, Butler AA, Cyr DD, Harris EC, Nelsen AJ, Yarnall DP, Ehm MG, Wagner MJ.

Hum Hered. 2004;57(4):220-7.

PMID:
15583428
26.

Case-control single-marker and haplotypic association analysis of pedigree data.

Browning SR, Briley JD, Briley LP, Chandra G, Charnecki JH, Ehm MG, Johansson KA, Jones BJ, Karter AJ, Yarnall DP, Wagner MJ.

Genet Epidemiol. 2005 Feb;28(2):110-22.

PMID:
15578751
27.
28.

Selection of genetic markers for association analyses, using linkage disequilibrium and haplotypes.

Meng Z, Zaykin DV, Xu CF, Wagner M, Ehm MG.

Am J Hum Genet. 2003 Jul;73(1):115-30. Epub 2003 Jun 5.

29.

Genome-wide and fine-mapping linkage studies of type 2 diabetes and glucose traits in the Old Order Amish: evidence for a new diabetes locus on chromosome 14q11 and confirmation of a locus on chromosome 1q21-q24.

Hsueh WC, St Jean PL, Mitchell BD, Pollin TI, Knowler WC, Ehm MG, Bell CJ, Sakul H, Wagner MJ, Burns DK, Shuldiner AR.

Diabetes. 2003 Feb;52(2):550-7.

30.

Linkage disequilibrium mapping identifies a 390 kb region associated with CYP2D6 poor drug metabolising activity.

Hosking LK, Boyd PR, Xu CF, Nissum M, Cantone K, Purvis IJ, Khakhar R, Barnes MR, Liberwirth U, Hagen-Mann K, Ehm MG, Riley JH.

Pharmacogenomics J. 2002;2(3):165-75.

31.

Testing association of statistically inferred haplotypes with discrete and continuous traits in samples of unrelated individuals.

Zaykin DV, Westfall PH, Young SS, Karnoub MA, Wagner MJ, Ehm MG.

Hum Hered. 2002;53(2):79-91.

PMID:
12037407
32.

Identifying susceptibility genes using linkage and linkage disequilibrium analysis in large pedigrees.

Meng Z, Zaykin DV, Karnoub MC, Sreekumar GP, St Jean PL, Ehm MG.

Genet Epidemiol. 2001;21 Suppl 1:S453-8.

PMID:
11793718
33.

Migraine with aura susceptibility locus on chromosome 19p13 is distinct from the familial hemiplegic migraine locus.

Jones KW, Ehm MG, Pericak-Vance MA, Haines JL, Boyd PR, Peroutka SJ.

Genomics. 2001 Dec;78(3):150-4.

PMID:
11735221
34.

Genome-wide scan of obesity in the Old Order Amish.

Hsueh WC, Mitchell BD, Schneider JL, St Jean PL, Pollin TI, Ehm MG, Wagner MJ, Burns DK, Sakul H, Bell CJ, Shuldiner AR.

J Clin Endocrinol Metab. 2001 Mar;86(3):1199-205.

PMID:
11238509
35.

Genomewide search for type 2 diabetes susceptibility genes in four American populations.

Ehm MG, Karnoub MC, Sakul H, Gottschalk K, Holt DC, Weber JL, Vaske D, Briley D, Briley L, Kopf J, McMillen P, Nguyen Q, Reisman M, Lai EH, Joslyn G, Shepherd NS, Bell C, Wagner MJ, Burns DK; American Diabetes Association GENNID Study Group. Genetics of NIDDM.

Am J Hum Genet. 2000 Jun;66(6):1871-81. Epub 2000 May 2. Erratum in: Am J Hum Genet 2002 Jan;70(1):284.

36.
37.
38.

An autosomal genomic scan for loci linked to type II diabetes mellitus and body-mass index in Pima Indians.

Hanson RL, Ehm MG, Pettitt DJ, Prochazka M, Thompson DB, Timberlake D, Foroud T, Kobes S, Baier L, Burns DK, Almasy L, Blangero J, Garvey WT, Bennett PH, Knowler WC.

Am J Hum Genet. 1998 Oct;63(4):1130-8.

39.

An autosomal genomic scan for loci linked to prediabetic phenotypes in Pima Indians.

Pratley RE, Thompson DB, Prochazka M, Baier L, Mott D, Ravussin E, Sakul H, Ehm MG, Burns DK, Foroud T, Garvey WT, Hanson RL, Knowler WC, Bennett PH, Bogardus C.

J Clin Invest. 1998 Apr 15;101(8):1757-64.

40.

Autosomal genomic scan for loci linked to obesity and energy metabolism in Pima Indians.

Norman RA, Tataranni PA, Pratley R, Thompson DB, Hanson RL, Prochazka M, Baier L, Ehm MG, Sakul H, Foroud T, Garvey WT, Burns D, Knowler WC, Bennett PH, Bogardus C, Ravussin E.

Am J Hum Genet. 1998 Mar;62(3):659-68.

41.

Error detection for genetic data, using likelihood methods.

Ehm MG, Kimmel M, Cottingham RW Jr.

Am J Hum Genet. 1996 Jan;58(1):225-34.

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