| Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss CM Sloan-Heggen, AO Bierer, AE Shearer, DL Kolbe, CJ Nishimura, ... Human genetics 135 (4), 441-450, 2016 | 508 | 2016 |
| Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype–phenotype correlations C Campbell, RA Cucci, S Prasad, GE Green, JB Edeal, CE Galer, ... Human mutation 17 (5), 403-411, 2001 | 384 | 2001 |
| Receptor‐mediated endocytosis of Neisseria gonorrhoeae into primary human urethral epithelial cells: the role of the asialoglycoprotein receptor HA Harvey, MP Jennings, CA Campbell, R Williams, MA Apicella Molecular microbiology 42 (3), 659-672, 2008 | 154 | 2008 |
| Binding of the non‐typeable Haemophilus influenzae lipooligosaccharide to the PAF receptor initiates host cell signalling WE Swords, MR Ketterer, J Shao, CA Campbell, JN Weiser, MA Apicella Cellular microbiology 3 (8), 525-536, 2001 | 149 | 2001 |
| Gonococcal Lipooligosaccharide is a ligand for the asialoglycoprotein receptor in human sperm MA Apicella, MS Blake, CA Campbell, BW Gibson, HA Harvey, ... Molecular Microbiology 36 (5), 1059-1070, 2011 | 136* | 2011 |
| Gonococcal lipooligosaccharide is a ligand for the asialoglycoprotein receptor on human sperm HA Harvey, N Porat, CA Campbell, M Jennings, BW Gibson, NJ Phillips, ... Molecular microbiology 36 (5), 1059-1070, 2002 | 136 | 2002 |
| Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21. 3-22.3 W Chen, CA Campbell, GE Green, K Van Den Bogaert, C Komodikis, ... Journal of medical genetics 39 (7), 473-477, 2002 | 125 | 2002 |
| An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge CA Brownstein, AH Beggs, N Homer, B Merriman, WY Timothy, ... Genome biology 15 (3), R53, 2014 | 122 | 2014 |
| Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder L Zong, J Guan, M Ealy, Q Zhang, D Wang, H Wang, Y Zhao, Z Shen, ... Journal of medical genetics, jmedgenet-2014-102961, 2015 | 116 | 2015 |
| DNM1 encephalopathy A new disease of vesicle fission S von Spiczak, KL Helbig, DN Shinde, R Huether, M Pendziwiat, ... Neurology 89 (4), 385-394, 2017 | 97 | 2017 |
| Deletion of and novel missense mutation in POU3F4 in 2 families segregating X-linked nonsyndromic deafness AP Vore, EH Chang, JE Hoppe, MG Butler, S Forrester, MC Schneider, ... Archives of Otolaryngology—Head & Neck Surgery 131 (12), 1057, 2005 | 66 | 2005 |
| Polymorphisms in KCNE1 or KCNE3 are not associated with Meniere disease in the Caucasian population CA Campbell, CC Della Santina, NC Meyer, NB Smith, OA Myrie, ... American Journal of Medical Genetics Part A 152 (1), 67-74, 2009 | 58 | 2009 |
| Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies C Joshi, DL Kolbe, MA Mansilla, SO Mason, RJH Smith, CA Campbell BioMed research international 2016, 2016 | 53 | 2016 |
| Collaborative counseling considerations for pharmacogenomic tests HA Zierhut, CA Campbell, AG Mitchell, AA Lemke, R Mills, JR Bishop Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy, 2017 | 45 | 2017 |
| Ketogenic diet–A novel treatment for early epileptic encephalopathy due to PIGA deficiency C Joshi, DL Kolbe, MA Mansilla, S Mason, RJH Smith, CA Campbell Brain and Development 38 (9), 848-851, 2016 | 41 | 2016 |
| Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases MA Mansilla, RR Sompallae, CJ Nishimura, AE Kwitek, MJ Kimble, ... Nephrology Dialysis Transplantation, 2019 | 39 | 2019 |
| Screening of living kidney donors for genetic diseases using a comprehensive genetic testing strategy CP Thomas, MA Mansilla, R Sompallae, SO Mason, CJ Nishimura, ... American Journal of Transplantation 17 (2), 401-410, 2017 | 36 | 2017 |
| De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy Epilepsy Genetics Initiative Genetics in Medicine 20 (2), 275, 2018 | 25 | 2018 |
| Functional variants in NOS1 and NOS2A are not associated with progressive hearing loss in Ménière's Disease in a European Caucasian population I Gazquez, JA Lopez-Escamez, A Moreno, CA Campbell, NC Meyer, ... DNA and cell biology 30 (9), 699-708, 2011 | 21 | 2011 |
| Gene expression profiling analysis of the inner ear MS Hildebrand, MG de Silva, T Klockars, CA Campbell, RJH Smith, ... Hearing research 225 (1), 1-10, 2007 | 17 | 2007 |
Richard J SmithUniversity of Iowa在 uiowa.edu 的电子邮件经过验证
