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Items: 1 to 50 of 125

1.

An APOE-independent cis-eSNP on chromosome 19q13.32 influences tau levels and late-onset Alzheimer's disease risk.

Rao S, Ghani M, Guo Z, Deming Y, Wang K, Sims R, Mao C, Yao Y, Cruchaga C, Stephan DA, Rogaeva E.

Neurobiol Aging. 2018 Jun;66:178.e1-178.e8. doi: 10.1016/j.neurobiolaging.2017.12.027. Epub 2018 Jan 3.

PMID:
29395286
2.

Whole exome sequencing in females with autism implicates novel and candidate genes.

Butler MG, Rafi SK, Hossain W, Stephan DA, Manzardo AM.

Int J Mol Sci. 2015 Jan 7;16(1):1312-35. doi: 10.3390/ijms16011312.

3.

Diagnostics for personalized medicine: what will change in the era of large-scale genomics studies?

Grewal A, Stephan DA.

Per Med. 2013 Nov;10(8):835-848. doi: 10.2217/pme.13.82.

PMID:
29776283
4.

The implications of ENCODE for diagnostics.

Fratkin E, Bercovici S, Stephan DA.

Nat Biotechnol. 2012 Nov;30(11):1064-5. doi: 10.1038/nbt.2418. No abstract available.

PMID:
23138302
5.

Why life science needs its own Silicon Valley.

Ghadar F, Sviokla J, Stephan DA.

Harv Bus Rev. 2012 Jul-Aug;90(7-8):25-7. No abstract available.

PMID:
22852449
6.

Genetic determinants of athletic performance.

Stephan DA.

Recent Pat DNA Gene Seq. 2012 Dec;6(3):175-9.

PMID:
22827596
7.

Autism and increased paternal age related changes in global levels of gene expression regulation.

Alter MD, Kharkar R, Ramsey KE, Craig DW, Melmed RD, Grebe TA, Bay RC, Ober-Reynolds S, Kirwan J, Jones JJ, Turner JB, Hen R, Stephan DA.

PLoS One. 2011 Feb 17;6(2):e16715. doi: 10.1371/journal.pone.0016715.

8.

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.

Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C.

Am J Hum Genet. 2011 Feb 11;88(2):127-37. doi: 10.1016/j.ajhg.2010.12.011. Epub 2011 Jan 20.

9.

Presymptomatic risk assessment for chronic non-communicable diseases.

Padhukasahasram B, Halperin E, Wessel J, Thomas DJ, Silver E, Trumbower H, Cargill M, Stephan DA.

PLoS One. 2010 Dec 31;5(12):e14338. doi: 10.1371/journal.pone.0014338.

10.

Alterations in gene expression of human vascular endothelial cells associated with nanotopographic cues.

Gasiorowski JZ, Liliensiek SJ, Russell P, Stephan DA, Nealey PF, Murphy CJ.

Biomaterials. 2010 Dec;31(34):8882-8. doi: 10.1016/j.biomaterials.2010.08.026. Epub 2010 Sep 15.

11.

A commonly carried allele of the obesity-related FTO gene is associated with reduced brain volume in the healthy elderly.

Ho AJ, Stein JL, Hua X, Lee S, Hibar DP, Leow AD, Dinov ID, Toga AW, Saykin AJ, Shen L, Foroud T, Pankratz N, Huentelman MJ, Craig DW, Gerber JD, Allen AN, Corneveaux JJ, Stephan DA, DeCarli CS, DeChairo BM, Potkin SG, Jack CR Jr, Weiner MW, Raji CA, Lopez OL, Becker JT, Carmichael OT, Thompson PM; Alzheimer's Disease Neuroimaging Initiative.

Proc Natl Acad Sci U S A. 2010 May 4;107(18):8404-9. doi: 10.1073/pnas.0910878107. Epub 2010 Apr 19.

12.

Genome-wide analysis reveals novel genes influencing temporal lobe structure with relevance to neurodegeneration in Alzheimer's disease.

Stein JL, Hua X, Morra JH, Lee S, Hibar DP, Ho AJ, Leow AD, Toga AW, Sul JH, Kang HM, Eskin E, Saykin AJ, Shen L, Foroud T, Pankratz N, Huentelman MJ, Craig DW, Gerber JD, Allen AN, Corneveaux JJ, Stephan DA, Webster J, DeChairo BM, Potkin SG, Jack CR Jr, Weiner MW, Thompson PM; Alzheimer's Disease Neuroimaging Initiative.

Neuroimage. 2010 Jun;51(2):542-54. doi: 10.1016/j.neuroimage.2010.02.068. Epub 2010 Mar 1.

13.

FUS mutations in sporadic amyotrophic lateral sclerosis.

Lai SL, Abramzon Y, Schymick JC, Stephan DA, Dunckley T, Dillman A, Cookson M, Calvo A, Battistini S, Giannini F, Caponnetto C, Mancardi GL, Spataro R, Monsurro MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Lombardo F; ITALSGEN Consortium, Mora G, Restagno G, Chiò A, Traynor BJ.

Neurobiol Aging. 2011 Mar;32(3):550.e1-4. doi: 10.1016/j.neurobiolaging.2009.12.020. Epub 2010 Feb 6.

14.

A genome-wide association study for age-related hearing impairment in the Saami.

Van Laer L, Huyghe JR, Hannula S, Van Eyken E, Stephan DA, Mäki-Torkko E, Aikio P, Fransen E, Lysholm-Bernacchi A, Sorri M, Huentelman MJ, Van Camp G.

Eur J Hum Genet. 2010 Jun;18(6):685-93. doi: 10.1038/ejhg.2009.234. Epub 2010 Jan 13.

15.

High-content siRNA screening of the kinome identifies kinases involved in Alzheimer's disease-related tau hyperphosphorylation.

Azorsa DO, Robeson RH, Frost D, Meec hoovet B, Brautigam GR, Dickey C, Beaudry C, Basu GD, Holz DR, Hernandez JA, Bisanz KM, Gwinn L, Grover A, Rogers J, Reiman EM, Hutton M, Stephan DA, Mousses S, Dunckley T.

BMC Genomics. 2010 Jan 12;11:25. doi: 10.1186/1471-2164-11-25.

16.

Whole genome association analysis shows that ACE is a risk factor for Alzheimer's disease and fails to replicate most candidates from Meta-analysis.

Webster J, Reiman EM, Zismann VL, Joshipura KD, Pearson JV, Hu-Lince D, Huentelman MJ, Craig DW, Coon KD, Beach T, Rohrer KC, Zhao AS, Leung D, Bryden L, Marlowe L, Kaleem M, Mastroeni D, Grover A, Rogers J, Heun R, Jessen F, Kölsch H, Heward CB, Ravid R, Hutton ML, Melquist S, Petersen RC, Caselli RJ, Papassotiropoulos A, Stephan DA, Hardy J, Myers A.

Int J Mol Epidemiol Genet. 2010;1(1):19-30. Epub 2009 Jul 26.

17.

Genome-wide SNP analysis reveals no gain in power for association studies of common variants in the Finnish Saami.

Huyghe JR, Fransen E, Hannula S, Van Laer L, Van Eyken E, Mäki-Torkko E, Lysholm-Bernacchi A, Aikio P, Stephan DA, Sorri M, Huentelman MJ, Van Camp G.

Eur J Hum Genet. 2010 May;18(5):569-74. doi: 10.1038/ejhg.2009.210. Epub 2009 Nov 25.

18.

Scavenger chemokine (CXC motif) receptor 7 (CXCR7) is a direct target gene of HIC1 (hypermethylated in cancer 1).

Van Rechem C, Rood BR, Touka M, Pinte S, Jenal M, Guérardel C, Ramsey K, Monté D, Bégue A, Tschan MP, Stephan DA, Leprince D.

J Biol Chem. 2009 Jul 31;284(31):20927-35. doi: 10.1074/jbc.M109.022350. Epub 2009 Jun 12.

19.

Gene expression profiling of TGFbeta2- and/or BMP7-treated trabecular meshwork cells: Identification of Smad7 as a critical inhibitor of TGF-beta2 signaling.

Fuchshofer R, Stephan DA, Russell P, Tamm ER.

Exp Eye Res. 2009 Jun;88(6):1020-32. doi: 10.1016/j.exer.2009.01.002. Epub 2009 Jan 18.

20.

SNP imputation in association studies.

Halperin E, Stephan DA.

Nat Biotechnol. 2009 Apr;27(4):349-51. doi: 10.1038/nbt0409-349. No abstract available.

PMID:
19352374
21.

Maximizing power in association studies.

Halperin E, Stephan DA.

Nat Biotechnol. 2009 Mar;27(3):255-6. doi: 10.1038/nbt0309-255. No abstract available.

PMID:
19270676
22.

A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.

Chiò A, Schymick JC, Restagno G, Scholz SW, Lombardo F, Lai SL, Mora G, Fung HC, Britton A, Arepalli S, Gibbs JR, Nalls M, Berger S, Kwee LC, Oddone EZ, Ding J, Crews C, Rafferty I, Washecka N, Hernandez D, Ferrucci L, Bandinelli S, Guralnik J, Macciardi F, Torri F, Lupoli S, Chanock SJ, Thomas G, Hunter DJ, Gieger C, Wichmann HE, Calvo A, Mutani R, Battistini S, Giannini F, Caponnetto C, Mancardi GL, La Bella V, Valentino F, Monsurrò MR, Tedeschi G, Marinou K, Sabatelli M, Conte A, Mandrioli J, Sola P, Salvi F, Bartolomei I, Siciliano G, Carlesi C, Orrell RW, Talbot K, Simmons Z, Connor J, Pioro EP, Dunkley T, Stephan DA, Kasperaviciute D, Fisher EM, Jabonka S, Sendtner M, Beck M, Bruijn L, Rothstein J, Schmidt S, Singleton A, Hardy J, Traynor BJ.

Hum Mol Genet. 2009 Apr 15;18(8):1524-32. doi: 10.1093/hmg/ddp059. Epub 2009 Feb 4.

23.

Peripheral delivery of a ROCK inhibitor improves learning and working memory.

Huentelman MJ, Stephan DA, Talboom J, Corneveaux JJ, Reiman DM, Gerber JD, Barnes CA, Alexander GE, Reiman EM, Bimonte-Nelson HA.

Behav Neurosci. 2009 Feb;123(1):218-23. doi: 10.1037/a0014260.

24.

GRM7 variants confer susceptibility to age-related hearing impairment.

Friedman RA, Van Laer L, Huentelman MJ, Sheth SS, Van Eyken E, Corneveaux JJ, Tembe WD, Halperin RF, Thorburn AQ, Thys S, Bonneux S, Fransen E, Huyghe J, Pyykkö I, Cremers CW, Kremer H, Dhooge I, Stephens D, Orzan E, Pfister M, Bille M, Parving A, Sorri M, Van de Heyning PH, Makmura L, Ohmen JD, Linthicum FH Jr, Fayad JN, Pearson JV, Craig DW, Stephan DA, Van Camp G.

Hum Mol Genet. 2009 Feb 15;18(4):785-96. doi: 10.1093/hmg/ddn402. Epub 2008 Dec 1.

25.

A translational profiling approach for the molecular characterization of CNS cell types.

Heiman M, Schaefer A, Gong S, Peterson JD, Day M, Ramsey KE, Suárez-Fariñas M, Schwarz C, Stephan DA, Surmeier DJ, Greengard P, Heintz N.

Cell. 2008 Nov 14;135(4):738-48. doi: 10.1016/j.cell.2008.10.028.

26.

Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1.

Stamm DS, Powell CM, Stajich JM, Zismann VL, Stephan DA, Chesnut B, Aylsworth AS, Kahler SG, Deak KL, Gilbert JR, Speer MC.

Neurology. 2008 Nov 25;71(22):1764-9. doi: 10.1212/01.wnl.0000325060.16532.40. Epub 2008 Oct 8.

PMID:
18843099
27.

Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.

Lesch KP, Timmesfeld N, Renner TJ, Halperin R, Röser C, Nguyen TT, Craig DW, Romanos J, Heine M, Meyer J, Freitag C, Warnke A, Romanos M, Schäfer H, Walitza S, Reif A, Stephan DA, Jacob C.

J Neural Transm (Vienna). 2008 Nov;115(11):1573-85. doi: 10.1007/s00702-008-0119-3. Epub 2008 Oct 7.

PMID:
18839057
28.

Variation in the large-scale organization of gene expression levels in the hippocampus relates to stable epigenetic variability in behavior.

Alter MD, Rubin DB, Ramsey K, Halpern R, Stephan DA, Abbott LF, Hen R.

PLoS One. 2008 Oct 6;3(10):e3344. doi: 10.1371/journal.pone.0003344.

29.

Identification of genetic variants using bar-coded multiplexed sequencing.

Craig DW, Pearson JV, Szelinger S, Sekar A, Redman M, Corneveaux JJ, Pawlowski TL, Laub T, Nunn G, Stephan DA, Homer N, Huentelman MJ.

Nat Methods. 2008 Oct;5(10):887-93. doi: 10.1038/nmeth.1251. Epub 2008 Sep 14.

30.

Evidence for an association between KIBRA and late-onset Alzheimer's disease.

Corneveaux JJ, Liang WS, Reiman EM, Webster JA, Myers AJ, Zismann VL, Joshipura KD, Pearson JV, Hu-Lince D, Craig DW, Coon KD, Dunckley T, Bandy D, Lee W, Chen K, Beach TG, Mastroeni D, Grover A, Ravid R, Sando SB, Aasly JO, Heun R, Jessen F, Kölsch H, Rogers J, Hutton ML, Melquist S, Petersen RC, Alexander GE, Caselli RJ, Papassotiropoulos A, Stephan DA, Huentelman MJ.

Neurobiol Aging. 2010 Jun;31(6):901-9. doi: 10.1016/j.neurobiolaging.2008.07.014. Epub 2008 Sep 13.

31.

Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays.

Homer N, Szelinger S, Redman M, Duggan D, Tembe W, Muehling J, Pearson JV, Stephan DA, Nelson SF, Craig DW.

PLoS Genet. 2008 Aug 29;4(8):e1000167. doi: 10.1371/journal.pgen.1000167.

32.

Neuronal gene expression correlates of Parkinson's disease with dementia.

Stamper C, Siegel A, Liang WS, Pearson JV, Stephan DA, Shill H, Connor D, Caviness JN, Sabbagh M, Beach TG, Adler CH, Dunckley T.

Mov Disord. 2008 Aug 15;23(11):1588-95. doi: 10.1002/mds.22184.

33.

Multimarker analysis and imputation of multiple platform pooling-based genome-wide association studies.

Homer N, Tembe WD, Szelinger S, Redman M, Stephan DA, Pearson JV, Nelson SF, Craig D.

Bioinformatics. 2008 Sep 1;24(17):1896-902. doi: 10.1093/bioinformatics/btn333. Epub 2008 Jul 10.

34.

Elevated amounts of myocilin in the aqueous humor of transgenic mice cause significant changes in ocular gene expression.

Paper W, Kroeber M, Heersink S, Stephan DA, Fuchshofer R, Russell P, Tamm ER.

Exp Eye Res. 2008 Sep;87(3):257-67. doi: 10.1016/j.exer.2008.06.006. Epub 2008 Jun 17.

35.

Neuronal gene expression in non-demented individuals with intermediate Alzheimer's Disease neuropathology.

Liang WS, Dunckley T, Beach TG, Grover A, Mastroeni D, Ramsey K, Caselli RJ, Kukull WA, McKeel D, Morris JC, Hulette CM, Schmechel D, Reiman EM, Rogers J, Stephan DA.

Neurobiol Aging. 2010 Apr;31(4):549-66. doi: 10.1016/j.neurobiolaging.2008.05.013. Epub 2008 Jun 24.

36.

Common sequence variants on 20q11.22 confer melanoma susceptibility.

Brown KM, Macgregor S, Montgomery GW, Craig DW, Zhao ZZ, Iyadurai K, Henders AK, Homer N, Campbell MJ, Stark M, Thomas S, Schmid H, Holland EA, Gillanders EM, Duffy DL, Maskiell JA, Jetann J, Ferguson M, Stephan DA, Cust AE, Whiteman D, Green A, Olsson H, Puig S, Ghiorzo P, Hansson J, Demenais F, Goldstein AM, Gruis NA, Elder DE, Bishop JN, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Hopper JL, Martin NG, Trent JM, Mann GJ, Hayward NK.

Nat Genet. 2008 Jul;40(7):838-40. doi: 10.1038/ng.163. Epub 2008 May 18.

37.

Refinement of 2q and 7p loci in a large multiplex NTD family.

Stamm DS, Siegel DG, Mehltretter L, Connelly JJ, Trott A, Ellis N, Zismann V, Stephan DA, George TM, Vekemans M, Ashley-Koch A, Gilbert JR, Gregory SG, Speer MC; NTD Collaborative Group.

Birth Defects Res A Clin Mol Teratol. 2008 Jun;82(6):441-52. doi: 10.1002/bdra.20462.

PMID:
18452155
38.

Alzheimer's disease is associated with reduced expression of energy metabolism genes in posterior cingulate neurons.

Liang WS, Reiman EM, Valla J, Dunckley T, Beach TG, Grover A, Niedzielko TL, Schneider LE, Mastroeni D, Caselli R, Kukull W, Morris JC, Hulette CM, Schmechel D, Rogers J, Stephan DA.

Proc Natl Acad Sci U S A. 2008 Mar 18;105(11):4441-6. doi: 10.1073/pnas.0709259105. Epub 2008 Mar 10.

39.

Genome-wide linkage analysis of ADHD using high-density SNP arrays: novel loci at 5q13.1 and 14q12.

Romanos M, Freitag C, Jacob C, Craig DW, Dempfle A, Nguyen TT, Halperin R, Walitza S, Renner TJ, Seitz C, Romanos J, Palmason H, Reif A, Heine M, Windemuth-Kieselbach C, Vogler C, Sigmund J, Warnke A, Schäfer H, Meyer J, Stephan DA, Lesch KP.

Mol Psychiatry. 2008 May;13(5):522-30. doi: 10.1038/mp.2008.12. Epub 2008 Feb 26.

PMID:
18301393
40.

Cholesterol-related genetic risk scores are associated with hypometabolism in Alzheimer's-affected brain regions.

Reiman EM, Chen K, Caselli RJ, Alexander GE, Bandy D, Adamson JL, Lee W, Cannon A, Stephan EA, Stephan DA, Papassotiropoulos A.

Neuroimage. 2008 Apr 15;40(3):1214-21. doi: 10.1016/j.neuroimage.2007.12.066. Epub 2008 Jan 17.

41.

Altered neuronal gene expression in brain regions differentially affected by Alzheimer's disease: a reference data set.

Liang WS, Dunckley T, Beach TG, Grover A, Mastroeni D, Ramsey K, Caselli RJ, Kukull WA, McKeel D, Morris JC, Hulette CM, Schmechel D, Reiman EM, Rogers J, Stephan DA.

Physiol Genomics. 2008 Apr 22;33(2):240-56. doi: 10.1152/physiolgenomics.00242.2007. Epub 2008 Feb 12.

42.

Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus.

Craig DW, Itty A, Panganiban C, Szelinger S, Kruer MC, Sekar A, Reiman D, Narayanan V, Stephan DA, Kerrigan JF.

Am J Hum Genet. 2008 Feb;82(2):366-74. doi: 10.1016/j.ajhg.2007.10.006. Epub 2008 Jan 31.

43.

Unraveling autism.

Stephan DA.

Am J Hum Genet. 2008 Jan;82(1):7-9. doi: 10.1016/j.ajhg.2007.12.003.

44.

The nuts and bolts of gene array technology and its application to drug abuse research.

Shurtleff D, Rutter JL, Ramsey KE, Craig DW, Stephan DA.

Drug Alcohol Depend. 2007 Nov 2;91(1):102-6. No abstract available.

PMID:
17977095
45.

Sorl1 as an Alzheimer's disease predisposition gene?

Webster JA, Myers AJ, Pearson JV, Craig DW, Hu-Lince D, Coon KD, Zismann VL, Beach T, Leung D, Bryden L, Halperin RF, Marlowe L, Kaleem M, Huentelman MJ, Joshipura K, Walker D, Heward CB, Ravid R, Rogers J, Papassotiropoulos A, Hardy J, Reiman EM, Stephan DA.

Neurodegener Dis. 2008;5(2):60-4. Epub 2007 Nov 1.

46.

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5.

Wider C, Melquist S, Hauf M, Solida A, Cobb SA, Kachergus JM, Gass J, Coon KD, Baker M, Cannon A, Stephan DA, Schorderet DF, Ghika J, Burkhard PR, Kapatos G, Hutton M, Farrer MJ, Wszolek ZK, Vingerhoets FJ.

Neurology. 2008 Apr 15;70(16 Pt 2):1377-83. Epub 2007 Sep 5.

47.

Whole-genome analysis of sporadic amyotrophic lateral sclerosis.

Dunckley T, Huentelman MJ, Craig DW, Pearson JV, Szelinger S, Joshipura K, Halperin RF, Stamper C, Jensen KR, Letizia D, Hesterlee SE, Pestronk A, Levine T, Bertorini T, Graves MC, Mozaffar T, Jackson CE, Bosch P, McVey A, Dick A, Barohn R, Lomen-Hoerth C, Rosenfeld J, O'connor DT, Zhang K, Crook R, Ryberg H, Hutton M, Katz J, Simpson EP, Mitsumoto H, Bowser R, Miller RG, Appel SH, Stephan DA.

N Engl J Med. 2007 Aug 23;357(8):775-88. Epub 2007 Aug 1.

48.

Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio.

Ting JC, Roberson ED, Miller ND, Lysholm-Bernacchi A, Stephan DA, Capone GT, Ruczinski I, Thomas GH, Pevsner J.

Hum Mutat. 2007 Dec;28(12):1225-35.

PMID:
17661425
49.

GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers.

Reiman EM, Webster JA, Myers AJ, Hardy J, Dunckley T, Zismann VL, Joshipura KD, Pearson JV, Hu-Lince D, Huentelman MJ, Craig DW, Coon KD, Liang WS, Herbert RH, Beach T, Rohrer KC, Zhao AS, Leung D, Bryden L, Marlowe L, Kaleem M, Mastroeni D, Grover A, Heward CB, Ravid R, Rogers J, Hutton ML, Melquist S, Petersen RC, Alexander GE, Caselli RJ, Kukull W, Papassotiropoulos A, Stephan DA.

Neuron. 2007 Jun 7;54(5):713-20.

50.

Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.

Puffenberger EG, Strauss KA, Ramsey KE, Craig DW, Stephan DA, Robinson DL, Hendrickson CL, Gottlieb S, Ramsay DA, Siu VM, Heuer GG, Crino PB, Morton DH.

Brain. 2007 Jul;130(Pt 7):1929-41. Epub 2007 May 23.

PMID:
17522105

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