Dietrich Stephan - Publications

Affiliations: 
Arizona State University, Tempe, AZ, United States 
Area:
Genetics, Molecular Biology, Neuroscience Biology, Pathology

76 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2013 Grewal A, Stephan DA. Diagnostics for personalized medicine: What will change in the era of large-scale genomics studies? Personalized Medicine. 10: 835-848. DOI: 10.2217/pme.13.82  0.92
2012 Fratkin E, Bercovici S, Stephan DA. The implications of ENCODE for diagnostics Nature Biotechnology. 30: 1064-1065. PMID 23138302 DOI: 10.1038/nbt.2418  0.92
2012 Stephan DA. Genetic determinants of Athletic performance Recent Patents On Dna and Gene Sequences. 6: 175-179. PMID 22827596  0.92
2011 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, ... ... Stephan DA, et al. Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42. American Journal of Human Genetics. 88: 127-37. PMID 21255762 DOI: 10.1016/j.ajhg.2010.12.011  0.92
2011 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, et al. FUS mutations in sporadic amyotrophic lateral sclerosis. Neurobiology of Aging. 32: 550.e1-4. PMID 20138404 DOI: 10.1016/j.neurobiolaging.2009.12.020  0.92
2010 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, ... ... Stephan DA, et al. Whole genome association analysis shows that ACE is a risk factor for Alzheimer's disease and fails to replicate most candidates from Meta-analysis. International Journal of Molecular Epidemiology and Genetics. 1: 19-30. PMID 21537449  0.92
2010 Hildebrand MS, Kahrizi K, Bromhead CJ, Shearer AE, Webster JA, Khodaei H, Abtahi R, Bazazzadegan N, Babanejad M, Nikzat N, Kimberling WJ, Stephan D, Huygen PL, Bahlo M, Smith RJ, et al. Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population. The Annals of Otology, Rhinology, and Laryngology. 119: 830-5. PMID 21250555  0.92
2010 Padhukasahasram B, Halperin E, Wessel J, Thomas DJ, Silver E, Trumbower H, Cargill M, Stephan DA. Presymptomatic risk assessment for chronic non-communicable diseases. Plos One. 5: e14338. PMID 21217814 DOI: 10.1371/journal.pone.0014338  0.92
2010 Hildebrand MS, Gandolfo L, Shearer AE, Webster JA, Jensen M, Kimberling WJ, Stephan D, Huygen PL, Smith RJ, Bahlo M. A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss. The Laryngoscope. 120: 2489-93. PMID 21046548 DOI: 10.1002/lary.21159  0.92
2010 Gasiorowski JZ, Liliensiek SJ, Russell P, Stephan DA, Nealey PF, Murphy CJ. Alterations in gene expression of human vascular endothelial cells associated with nanotopographic cues. Biomaterials. 31: 8882-8. PMID 20832112 DOI: 10.1016/j.biomaterials.2010.08.026  0.92
2010 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, ... ... Stephan DA, et al. A commonly carried allele of the obesity-related FTO gene is associated with reduced brain volume in the healthy elderly. Proceedings of the National Academy of Sciences of the United States of America. 107: 8404-9. PMID 20404173 DOI: 10.1073/pnas.0910878107  0.92
2010 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, ... ... Stephan DA, et al. Genome-wide analysis reveals novel genes influencing temporal lobe structure with relevance to neurodegeneration in Alzheimer's disease. Neuroimage. 51: 542-54. PMID 20197096 DOI: 10.1016/j.neuroimage.2010.02.068  0.92
2010 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. A genome-wide association study for age-related hearing impairment in the Saami. European Journal of Human Genetics : Ejhg. 18: 685-93. PMID 20068591 DOI: 10.1038/ejhg.2009.234  0.32
2010 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, ... ... Stephan DA, et al. High-content siRNA screening of the kinome identifies kinases involved in Alzheimer's disease-related tau hyperphosphorylation. Bmc Genomics. 11: 25. PMID 20067632 DOI: 10.1186/1471-2164-11-25  0.92
2010 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. Genome-wide SNP analysis reveals no gain in power for association studies of common variants in the Finnish Saami. European Journal of Human Genetics : Ejhg. 18: 569-74. PMID 19935831 DOI: 10.1038/ejhg.2009.210  0.32
2010 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, ... ... Stephan DA, et al. Evidence for an association between KIBRA and late-onset Alzheimer's disease. Neurobiology of Aging. 31: 901-9. PMID 18789830 DOI: 10.1016/j.neurobiolaging.2008.07.014  0.92
2010 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. Neuronal gene expression in non-demented individuals with intermediate Alzheimer's Disease neuropathology. Neurobiology of Aging. 31: 549-66. PMID 18572275 DOI: 10.1016/j.neurobiolaging.2008.05.013  0.92
2009 Grillet N, Schwander M, Hildebrand MS, Sczaniecka A, Kolatkar A, Velasco J, Webster JA, Kahrizi K, Najmabadi H, Kimberling WJ, Stephan D, Bahlo M, Wiltshire T, Tarantino LM, Kuhn P, et al. Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. American Journal of Human Genetics. 85: 328-37. PMID 19732867 DOI: 10.1016/j.ajhg.2009.07.017  0.92
2009 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. Scavenger chemokine (CXC motif) receptor 7 (CXCR7) is a direct target gene of HIC1 (Hypermethylated in cancer 1) Journal of Biological Chemistry. 284: 20927-20935. PMID 19525223 DOI: 10.1074/jbc.M109.022350  0.92
2009 Webster JA, Gibbs JR, Clarke J, Ray M, Zhang W, Holmans P, Rohrer K, Zhao A, Marlowe L, Kaleem M, McCorquodale DS, Cuello C, Leung D, Bryden L, Nath P, ... ... Stephan D, et al. Genetic control of human brain transcript expression in Alzheimer disease. American Journal of Human Genetics. 84: 445-58. PMID 19361613 DOI: 10.1016/j.ajhg.2009.03.011  0.92
2009 Shearer AE, Hildebrand MS, Webster JA, Kahrizi K, Meyer NC, Jalalvand K, Arzhanginy S, Kimberling WJ, Stephan D, Bahlo M, Smith RJ, Najmabadi H. Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. The Laryngoscope. 119: 727-33. PMID 19274735 DOI: 10.1002/lary.20116  0.92
2009 Shearer AE, Hildebrand MS, Bromhead CJ, Kahrizi K, Webster JA, Azadeh B, Kimberling WJ, Anousheh A, Nazeri A, Stephan D, Najmabadi H, Smith RJ, Bahlo M. A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family. American Journal of Medical Genetics. Part A. 149: 555-8. PMID 19215054 DOI: 10.1002/ajmg.a.32670  0.92
2009 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, ... ... Stephan DA, et al. A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. Human Molecular Genetics. 18: 1524-32. PMID 19193627 DOI: 10.1093/hmg/ddp059  0.92
2009 Huentelman MJ, Stephan DA, Talboom J, Corneveaux JJ, Reiman DM, Gerber JD, Barnes CA, Alexander GE, Reiman EM, Bimonte-Nelson HA. Peripheral delivery of a ROCK inhibitor improves learning and working memory. Behavioral Neuroscience. 123: 218-23. PMID 19170447 DOI: 10.1037/a0014260  0.92
2009 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, ... ... Stephan DA, et al. GRM7 variants confer susceptibility to age-related hearing impairment. Human Molecular Genetics. 18: 785-96. PMID 19047183 DOI: 10.1093/hmg/ddn402  0.92
2008 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. A translational profiling approach for the molecular characterization of CNS cell types. Cell. 135: 738-48. PMID 19013281 DOI: 10.1016/j.cell.2008.10.028  0.92
2008 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, ... ... Stephan DA, et al. Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies. Journal of Neural Transmission (Vienna, Austria : 1996). 115: 1573-85. PMID 18839057 DOI: 10.1007/s00702-008-0119-3  0.92
2008 Craig DW, Pearson JV, Szelinger S, Sekar A, Redman M, Corneveaux JJ, Pawlowski TL, Laub T, Nunn G, Stephan DA, Homer N, Huentelman MJ. Identification of genetic variants using bar-coded multiplexed sequencing. Nature Methods. 5: 887-93. PMID 18794863 DOI: 10.1038/nmeth.1251  0.92
2008 Homer N, Szelinger S, Redman M, Duggan D, Tembe W, Muehling J, Pearson JV, Stephan DA, Nelson SF, Craig DW. Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays. Plos Genetics. 4: e1000167. PMID 18769715 DOI: 10.1371/journal.pgen.1000167  0.92
2008 Homer N, Tembe WD, Szelinger S, Redman M, Stephan DA, Pearson JV, Nelson SF, Craig D. Multimarker analysis and imputation of multiple platform pooling-based genome-wide association studies. Bioinformatics (Oxford, England). 24: 1896-902. PMID 18617537 DOI: 10.1093/bioinformatics/btn333  0.92
2008 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, ... ... Stephan DA, et al. Common sequence variants on 20q11.22 confer melanoma susceptibility. Nature Genetics. 40: 838-40. PMID 18488026 DOI: 10.1038/ng.163  0.92
2008 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. Refinement of 2q and 7p loci in a large multiplex NTD family. Birth Defects Research. Part a, Clinical and Molecular Teratology. 82: 441-52. PMID 18452155 DOI: 10.1002/bdra.20462  0.92
2008 Reiman EM, Chen K, Caselli RJ, Alexander GE, Bandy D, Adamson JL, Lee W, Cannon A, Stephan EA, Stephan DA, Papassotiropoulos A. Cholesterol-related genetic risk scores are associated with hypometabolism in Alzheimer's-affected brain regions. Neuroimage. 40: 1214-21. PMID 18280754 DOI: 10.1016/j.neuroimage.2007.12.066  0.92
2008 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. Altered neuronal gene expression in brain regions differentially affected by Alzheimer's disease: a reference data set. Physiological Genomics. 33: 240-56. PMID 18270320 DOI: 10.1152/physiolgenomics.00242.2007  0.92
2008 Craig DW, Itty A, Panganiban C, Szelinger S, Kruer MC, Sekar A, Reiman D, Narayanan V, Stephan DA, Kerrigan JF. Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus. American Journal of Human Genetics. 82: 366-74. PMID 18252217 DOI: 10.1016/j.ajhg.2007.10.006  0.92
2008 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, ... ... Stephan DA, et al. Sorl1 as an Alzheimer's disease predisposition gene? Neuro-Degenerative Diseases. 5: 60-4. PMID 17975299 DOI: 10.1159/000110789  0.92
2007 Myers AJ, Gibbs JR, Webster JA, Rohrer K, Zhao A, Marlowe L, Kaleem M, Leung D, Bryden L, Nath P, Zismann VL, Joshipura K, Huentelman MJ, Hu-Lince D, Coon KD, ... ... Stephan D, et al. A survey of genetic human cortical gene expression. Nature Genetics. 39: 1494-9. PMID 17982457 DOI: 10.1038/ng.2007.16  0.92
2007 Shurtleff D, Rutter JL, Ramsey KE, Craig DW, Stephan DA. The nuts and bolts of gene array technology and its application to drug abuse research Drug and Alcohol Dependence. 91: 102-106. PMID 17977095 DOI: 10.1016/j.drugalcdep.2007.01.014  0.92
2007 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, ... ... Stephan DA, et al. Whole-genome analysis of sporadic amyotrophic lateral sclerosis. The New England Journal of Medicine. 357: 775-88. PMID 17671248 DOI: 10.1056/NEJMoa070174  0.92
2007 Ting JC, Roberson ED, Miller ND, Lysholm-Bernacchi A, Stephan DA, Capone GT, Ruczinski I, Thomas GH, Pevsner J. Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio. Human Mutation. 28: 1225-35. PMID 17661425 DOI: 10.1002/humu.20583  0.92
2007 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, ... ... Stephan DA, et al. GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers. Neuron. 54: 713-20. PMID 17553421 DOI: 10.1016/j.neuron.2007.05.022  0.92
2007 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. Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5. Brain : a Journal of Neurology. 130: 1929-41. PMID 17522105 DOI: 10.1093/brain/awm100  0.92
2007 Kerrigan JF, Kruer MC, Corneveaux J, Panganiban CB, Itty A, Reiman D, Ng YT, Stephan DA, Craig DW. Chromosomal abnormality at 6p25.1-25.3 identifies a susceptibility locus for hypothalamic hamartoma associated with epilepsy. Epilepsy Research. 75: 70-3. PMID 17512701 DOI: 10.1016/j.eplepsyres.2007.04.002  0.92
2007 Coon KD, Myers AJ, Craig DW, Webster JA, Pearson JV, Lince DH, Zismann VL, Beach TG, Leung D, Bryden L, Halperin RF, Marlowe L, Kaleem M, Walker DG, Ravid R, ... ... Stephan DA, et al. A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. The Journal of Clinical Psychiatry. 68: 613-8. PMID 17474819  0.92
2007 Huentelman MJ, Papassotiropoulos A, Craig DW, Hoerndli FJ, Pearson JV, Huynh KD, Corneveaux J, Hänggi J, Mondadori CR, Buchmann A, Reiman EM, Henke K, de Quervain DJ, Stephan DA. Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance. Human Molecular Genetics. 16: 1469-77. PMID 17470457 DOI: 10.1093/hmg/ddm097  0.32
2007 Melquist S, Craig DW, Huentelman MJ, Crook R, Pearson JV, Baker M, Zismann VL, Gass J, Adamson J, Szelinger S, Corneveaux J, Cannon A, Coon KD, Lincoln S, Adler C, ... ... Stephan DA, et al. Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms. American Journal of Human Genetics. 80: 769-78. PMID 17357082 DOI: 10.1086/513320  0.92
2007 Corneveaux JJ, Kruer MC, Hu-Lince D, Ramsey KE, Zismann VL, Stephan DA, Craig DW, Huentelman MJ. SNP-based chromosomal copy number ascertainment following multiple displacement whole-genome amplification. Biotechniques. 42: 77-83. PMID 17269488  0.32
2007 Pearson JV, Huentelman MJ, Halperin RF, Tembe WD, Melquist S, Homer N, Brun M, Szelinger S, Coon KD, Zismann VL, Webster JA, Beach T, Sando SB, Aasly JO, Heun R, ... ... Stephan DA, et al. Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies. American Journal of Human Genetics. 80: 126-39. PMID 17160900 DOI: 10.1086/510686  0.92
2007 Liang WS, Dunckley T, Beach TG, Grover A, Mastroeni D, Walker DG, Caselli RJ, Kukull WA, McKeel D, Morris JC, Hulette C, Schmechel D, Alexander GE, Reiman EM, Rogers J, ... Stephan DA, et al. Gene expression profiles in anatomically and functionally distinct regions of the normal aged human brain. Physiological Genomics. 28: 311-22. PMID 17077275 DOI: 10.1152/physiolgenomics.00208.2006  0.92
2007 Hua J, Craig DW, Brun M, Webster J, Zismann V, Tembe W, Joshipura K, Huentelman MJ, Dougherty ER, Stephan DA. SNiPer-HD: improved genotype calling accuracy by an expectation-maximization algorithm for high-density SNP arrays. Bioinformatics (Oxford, England). 23: 57-63. PMID 17062589 DOI: 10.1093/bioinformatics/btl536  0.92
2006 Basu GD, Liang WS, Stephan DA, Wegener LT, Conley CR, Pockaj BA, Mukherjee P. A novel role for cyclooxygenase-2 in regulating vascular channel formation by human breast cancer cells. Breast Cancer Research : Bcr. 8: R69. PMID 17156488 DOI: 10.1186/bcr1626  0.92
2006 Boyles AL, Enterline DS, Hammock PH, Siegel DG, Slifer SH, Mehltretter L, Gilbert JR, Hu-Lince D, Stephan D, Batzdorf U, Benzel E, Ellenbogen R, Green BA, Kula R, Menezes A, et al. Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15. American Journal of Medical Genetics. Part A. 140: 2776-85. PMID 17103432 DOI: 10.1002/ajmg.a.31546  0.92
2006 Papassotiropoulos A, Stephan DA, Huentelman MJ, Hoerndli FJ, Craig DW, Pearson JV, Huynh KD, Brunner F, Corneveaux J, Osborne D, Wollmer MA, Aerni A, Coluccia D, Hänggi J, Mondadori CR, et al. Common Kibra alleles are associated with human memory performance. Science (New York, N.Y.). 314: 475-8. PMID 17053149 DOI: 10.1126/science.1129837  0.32
2006 Stamm DS, Rampersaud E, Slifer SH, Mehltretter L, Siegel DG, Xie J, Hu-Lince D, Craig DW, Stephan DA, George TM, Gilbert JR, Speer MC. High-density single nucleotide polymorphism screen in a large multiplex neural tube defect family refines linkage to loci at 7p21.1-pter and 2q33.1-q35. Birth Defects Research. Part a, Clinical and Molecular Teratology. 76: 499-505. PMID 16933213 DOI: 10.1002/bdra.20272  0.92
2006 Coon KD, Siegel AM, Yee SJ, Dunckley TL, Mueller C, Nagra RM, Tourtellotte WW, Reiman EM, Papassotiropoulos A, Petersen FF, Stephan DA, Kirsch WM. Preliminary demonstration of an allelic association of the IREB2 gene with Alzheimer's disease. Journal of Alzheimer's Disease : Jad. 9: 225-33. PMID 16914832  0.92
2006 Rendtorff ND, Zhu M, Fagerheim T, Antal TL, Jones M, Teslovich TM, Gillanders EM, Barmada M, Teig E, Trent JM, Friderici KH, Stephan DA, Tranebjaerg L. A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. European Journal of Human Genetics : Ejhg. 14: 1097-105. PMID 16773128 DOI: 10.1038/sj.ejhg.5201670  0.92
2006 Donarum EA, Stephan DA, Larkin K, Murphy EJ, Gupta M, Senephansiri H, Switzer RC, Pearl PL, Snead OC, Jakobs C, Gibson KM. Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency. Journal of Inherited Metabolic Disease. 29: 143-56. PMID 16601881 DOI: 10.1007/s10545-006-0247-6  0.92
2006 Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM, Stephan DA, Morton DH. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. The New England Journal of Medicine. 354: 1370-7. PMID 16571880 DOI: 10.1056/NEJMoa052773  0.92
2006 Donarum EA, Halperin RF, Stephan DA, Narayanan V. Cognitive dysfunction in NF1 knock-out mice may result from altered vesicular trafficking of APP/DRD3 complex. Bmc Neuroscience. 7: 22. PMID 16524466 DOI: 10.1186/1471-2202-7-22  0.92
2006 John-Aryankalayil M, Dushku N, Jaworski CJ, Cox CA, Schultz G, Smith JA, Ramsey KE, Stephan DA, Freedman KA, Reid TW, Carper DA. Microarray and protein analysis of human pterygium Molecular Vision. 12: 55-64. PMID 16446702  0.92
2005 Pritchard DE, Ceryak S, Ramsey KE, O'Brien TJ, Ha L, Fornsaglio JL, Stephan DA, Patierno SR. Resistance to apoptosis, increased growth potential, and altered gene expression in cells that survived genotoxic hexavalent chromium [Cr(VI)] exposure. Molecular and Cellular Biochemistry. 279: 169-81. PMID 16283527 DOI: 10.1007/s11010-005-8292-2  0.92
2005 Huentelman MJ, Craig DW, Shieh AD, Corneveaux JJ, Hu-Lince D, Pearson JV, Stephan DA. SNiPer: improved SNP genotype calling for Affymetrix 10K GeneChip microarray data. Bmc Genomics. 6: 149. PMID 16262895 DOI: 10.1186/1471-2164-6-149  0.32
2005 Craig DW, Huentelman MJ, Hu-Lince D, Zismann VL, Kruer MC, Lee AM, Puffenberger EG, Pearson JM, Stephan DA. Identification of disease causing loci using an array-based genotyping approach on pooled DNA. Bmc Genomics. 6: 138. PMID 16197552 DOI: 10.1186/1471-2164-6-138  0.32
2005 Strauss KA, Puffenberger EG, Craig DW, Panganiban CB, Lee AM, Hu-Lince D, Stephan DA, Morton DH. Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population. American Journal of Medical Genetics. Part A. 138: 262-7. PMID 16158439 DOI: 10.1002/ajmg.a.30961  0.32
2005 Meyer J, Johannssen K, Freitag CM, Schraut K, Teuber I, Hahner A, Mainhardt C, Mössner R, Volz HP, Wienker TF, McKeane D, Stephan DA, Rouleau G, Reif A, Lesch KP. Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorder. The International Journal of Neuropsychopharmacology / Official Scientific Journal of the Collegium Internationale Neuropsychopharmacologicum (Cinp). 8: 495-504. PMID 16098236 DOI: 10.1017/S1461145705005821  0.48
2005 Hu-Lince D, Craig DW, Huentelman MJ, Stephan DA. The Autism Genome Project: goals and strategies. American Journal of Pharmacogenomics : Genomics-Related Research in Drug Development and Clinical Practice. 5: 233-46. PMID 16078860  0.32
2005 Baffoe-Bonnie AB, Smith JR, Stephan DA, Schleutker J, Carpten JD, Kainu T, Gillanders EM, Matikainen M, Teslovich TM, Tammela T, Sood R, Balshem AM, Scarborough SD, Xu J, Isaacs WB, et al. A major locus for hereditary prostate cancer in Finland: localization by linkage disequilibrium of a haplotype in the HPCX region. Human Genetics. 117: 307-16. PMID 15906096 DOI: 10.1007/s00439-005-1306-z  0.92
2005 McKeane DP, Meyer J, Dobrin SE, Melmed KM, Ekawardhani S, Tracy NA, Lesch KP, Stephan DA. No causative DLL4 mutations in periodic catatonia patients from 15q15 linked families. Schizophrenia Research. 75: 1-3. PMID 15820317 DOI: 10.1016/j.schres.2004.07.017  0.92
2005 Liang WS, Maddukuri A, Teslovich TM, de la Fuente C, Agbottah E, Dadgar S, Kehn K, Hautaniemi S, Pumfery A, Stephan DA, Kashanchi F. Therapeutic targets for HIV-1 infection in the host proteome. Retrovirology. 2: 20. PMID 15780141 DOI: 10.1186/1742-4690-2-20  0.92
2005 Mintz MB, Sowers R, Brown KM, Hilmer SC, Mazza B, Huvos AG, Meyers PA, Lafleur B, McDonough WS, Henry MM, Ramsey KE, Antonescu CR, Chen W, Healey JH, Daluski A, ... ... Stephan DA, et al. An expression signature classifies chemotherapy-resistant pediatric osteosarcoma. Cancer Research. 65: 1748-54. PMID 15753370 DOI: 10.1158/0008-5472.CAN-04-2463  0.92
2005 Bassuk AG, Craig D, Jalali A, Mukhopadhyay A, Kim F, Charrow J, Gulbu U, Epstein LG, Bowman R, McLone D, Yagi H, Matsuoka R, Stephan DA, Kessler JA. The genetics of tethered cord syndrome. American Journal of Medical Genetics. Part A. 132: 450-3. PMID 15558749 DOI: 10.1002/ajmg.a.30439  0.92
2004 Mitchell SA, Brown KM, Henry MM, Mintz M, Catchpoole D, LaFleur B, Stephan DA. Inter-platform comparability of microarrays in acute lymphoblastic leukemia. Bmc Genomics. 5: 71. PMID 15387886 DOI: 10.1186/1471-2164-5-71  0.92
2004 Puffenberger EG, Hu-Lince D, Parod JM, Craig DW, Dobrin SE, Conway AR, Donarum EA, Strauss KA, Dunckley T, Cardenas JF, Melmed KR, Wright CA, Liang W, Stafford P, Flynn CR, ... ... Stephan DA, et al. Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function. Proceedings of the National Academy of Sciences of the United States of America. 101: 11689-94. PMID 15273283 DOI: 10.1073/pnas.0401194101  0.92
2004 Ahmed F, Brown KM, Stephan DA, Morrison JC, Johnson EC, Tomarev SI. Microarray analysis of changes in mRNA levels in the rat retina after experimental elevation of intraocular pressure. Investigative Ophthalmology & Visual Science. 45: 1247-58. PMID 15037594 DOI: 10.1167/iovs.03-1123  0.92
2003 Almon RR, DuBois DC, Pearson KE, Stephan DA, Jusko WJ. Gene arrays and temporal patterns of drug response: corticosteroid effects on rat liver. Functional & Integrative Genomics. 3: 171-9. PMID 12928814 DOI: 10.1007/s10142-003-0090-x  0.92
2003 Dobrin SE, Stephan DA. Integrating microarrays into disease-gene identification strategies. Expert Review of Molecular Diagnostics. 3: 375-85. PMID 12779011 DOI: 10.1586/14737159.3.3.375  0.92
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