| Year |
Citation |
Score |
| 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 DOI: 10.1177/000348941011901207 |
0.313 |
|
| 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 |
0.331 |
|
| 2010 |
Hildebrand MS, Thorne NP, Bromhead CJ, Kahrizi K, Webster JA, Fattahi Z, Bataejad M, Kimberling WJ, Stephan D, Najmabadi H, Bahlo M, Smith RJ. Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. Clinical Genetics. 77: 563-71. PMID 20132242 DOI: 10.1111/J.1399-0004.2009.01344.X |
0.363 |
|
| 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 |
0.359 |
|
| 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 |
0.336 |
|
| 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 |
0.426 |
|
| 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 |
0.323 |
|
| 2008 |
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, et al. Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5. Neurology. 70: 1377-83. PMID 17804835 DOI: 10.1212/01.Wnl.0000275527.35752.C5 |
0.312 |
|
| 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 |
0.382 |
|
| 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 |
0.405 |
|
| 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 |
0.642 |
|
| 2006 |
Melquist S, Huentelman MJ, Craig DW, Baker M, Crook R, Pearson JV, Zisman VL, Gass J, Adamson J, Szelinger S, Cournevaux JJ, Cannon A, Coon KD, Dickson DW, Stephan D, et al. P3-163: Identification of a novel risk gene for progressive supranuclear palsy by a genome-wide scan of 500,288 SNPs Alzheimer's & Dementia. 2: S422-S422. DOI: 10.1016/J.Jalz.2006.05.1431 |
0.363 |
|
| 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 |
0.326 |
|
| 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 |
0.668 |
|
| 2005 |
Guo D, Fong A, Lail A, O’Sullivan M, Stone G, Kiiveri H, Henry M, Stephan D, Dalla-Pozza L, Catchpoole DR. Simplifying Complex Microarray Data To Derive Gene Expression Profiles Which Identify Childhood Acute Lymphoblastic Leukaemia Patients at Risk of Relapse. Blood. 106: 4506-4506. DOI: 10.1182/Blood.V106.11.4506.4506 |
0.326 |
|
| 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 |
0.687 |
|
| 2004 |
Gorospe JR, Singhal BS, Kainu T, Wu F, Stephan D, Trent J, Hoffman EP, Naidu S. Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation Neurology. 62: 878-882. PMID 15037685 DOI: 10.1212/01.Wnl.0000115106.88813.5B |
0.365 |
|
| 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 |
0.672 |
|
| 2002 |
Tezak Z, Hoffman EP, Lutz JL, Fedczyna TO, Stephan D, Bremer EG, Krasnoselska-Riz I, Kumar A, Pachman LM. Gene expression profiling in DQA1*0501+ children with untreated dermatomyositis: a novel model of pathogenesis. Journal of Immunology (Baltimore, Md. : 1950). 168: 4154-63. PMID 11937576 DOI: 10.4049/Jimmunol.168.8.4154 |
0.316 |
|
| 2002 |
Rozenblum E, Vahteristo P, Sandberg T, Bergthorsson JT, Syrjakoski K, Weaver D, Haraldsson K, Johannsdottir HK, Vehmanen P, Nigam S, Golberger N, Robbins C, Pak E, Dutra A, Gillander E, ... Stephan DA, et al. A genomic map of a 6-Mb region at 13q21-q22 implicated in cancer development: identification and characterization of candidate genes. Human Genetics. 110: 111-21. PMID 11935316 DOI: 10.1007/S00439-001-0646-6 |
0.31 |
|
| 2002 |
Carpten J, Nupponen N, Isaacs S, Sood R, Robbins C, Xu J, Faruque M, Moses T, Ewing C, Gillanders E, Hu P, Bujnovszky P, Makalowska I, Baffoe-Bonnie A, Faith D, ... ... Stephan D, et al. Germline mutations in the ribonuclease L gene in families showing linkage with HPC1. Nature Genetics. 30: 181-4. PMID 11799394 DOI: 10.1038/Ng823 |
0.351 |
|
| 2000 |
Kainu T, Juo SHH, Desper R, Schäffer AA, Gillanders E, Rozenblum E, Freas-Lutz D, Weaver D, Stephan D, Bailey-Wilson J, Kallioniemi OP, Tirkkonen M, Syrjäkoski K, Kuukasjärvi T, Koivisto P, et al. Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus Proceedings of the National Academy of Sciences of the United States of America. 97: 9603-9608. PMID 10944226 DOI: 10.1073/Pnas.97.17.9603 |
0.31 |
|
| 1999 |
Stephan DA, Gillanders E, Vanderveen D, Freas-Lutz D, Wistow G, Baxevanis AD, Robbins CM, VanAuken A, Quesenberry MI, Bailey-Wilson J, Juo SH, Trent JM, Smith L, Brownstein MJ. Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene. Proceedings of the National Academy of Sciences of the United States of America. 96: 1008-12. PMID 9927684 DOI: 10.1073/Pnas.96.3.1008 |
0.302 |
|
| 1998 |
Xu J, Meyers D, Freije D, Isaacs S, Wiley K, Nusskern D, Ewing C, Wilkens E, Bujnovszky P, Bova GS, Walsh P, Isaacs W, Schleutker J, Matikainen M, Tammela T, ... ... Stephan D, et al. Evidence for a prostate cancer susceptibility locus on the X chromosome. Nature Genetics. 20: 175-9. PMID 9771711 DOI: 10.1016/S0022-5347(01)61689-6 |
0.313 |
|
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