| Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing AE Shearer, AP DeLuca, MS Hildebrand, KR Taylor, J Gurrola II, ... Proceedings of the National Academy of Sciences 107 (49), 21104-21109, 2010 | 362 | 2010 |
| Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease EM Stone, JL Andorf, SS Whitmore, AP DeLuca, JC Giacalone, LM Streb, ... Ophthalmology 124 (9), 1314-1331, 2017 | 356 | 2017 |
| Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa BA Tucker, TE Scheetz, RF Mullins, AP DeLuca, JM Hoffmann, ... Proceedings of the National Academy of Sciences 108 (34), E569-E576, 2011 | 234 | 2011 |
| Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease TA Braun, RF Mullins, AH Wagner, JL Andorf, RM Johnston, BB Bakall, ... Human molecular genetics 22 (25), 5136-5145, 2013 | 210 | 2013 |
| Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with α-tectorin and is mutated in autosomal dominant hearing loss (DFNA4) J Zheng, KK Miller, T Yang, MS Hildebrand, AE Shearer, AP DeLuca, ... Proceedings of the National Academy of Sciences 108 (10), 4218-4223, 2011 | 144 | 2011 |
| Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis RW Eppsteiner, AE Shearer, MS Hildebrand, AP DeLuca, H Ji, CC Dunn, ... Hearing research 292 (1-2), 51-58, 2012 | 142 | 2012 |
| Advancing genetic testing for deafness with genomic technology AE Shearer, EA Black-Ziegelbein, MS Hildebrand, RW Eppsteiner, H Ravi, ... Journal of medical genetics 50 (9), 627-634, 2013 | 127 | 2013 |
| cGMP production of patient-specific iPSCs and photoreceptor precursor cells to treat retinal degenerative blindness LA Wiley, ER Burnight, AP DeLuca, KR Anfinson, CM Cranston, ... Scientific reports 6 (1), 30742, 2016 | 122 | 2016 |
| Exon-level expression profiling of ocular tissues AH Wagner, VN Anand, WH Wang, JE Chatterton, D Sun, AR Shepard, ... Experimental eye research 111, 105-111, 2013 | 122 | 2013 |
| 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, TW Yu, KC Flannery, ... Genome biology 15, 1-18, 2014 | 119 | 2014 |
| North Carolina macular dystrophy is caused by dysregulation of the retinal transcription factor PRDM13 KW Small, AP DeLuca, SS Whitmore, T Rosenberg, R Silva-Garcia, ... Ophthalmology 123 (1), 9-18, 2016 | 118 | 2016 |
| Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq SS Whitmore, AH Wagner, AP DeLuca, AV Drack, EM Stone, BA Tucker, ... Experimental eye research 129, 93-106, 2014 | 115 | 2014 |
| Primary congenital and developmental glaucomas CJ Lewis, A Hedberg-Buenz, AP DeLuca, EM Stone, WLM Alward, ... Human molecular genetics 26 (R1), R28-R36, 2017 | 114 | 2017 |
| Keeping an eye on Bardet-Biedl syndrome: a comprehensive review of the role of Bardet-Biedl syndrome genes in the eye K Weihbrecht, WA Goar, T Pak, JE Garrison, AP DeLuca, EM Stone, ... Medical research archives 5 (9), 2017 | 93 | 2017 |
| DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss MS Hildebrand, M Morín, NC Meyer, F Mayo, S Modamio‐Hoybjor, ... Human mutation 32 (7), 825-834, 2011 | 91 | 2011 |
| Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis AP DeLuca, SS Whitmore, J Barnes, TP Sharma, TA Westfall, CA Scott, ... Human molecular genetics 25 (1), 44-56, 2016 | 72 | 2016 |
| Mutation in the COCH gene is associated with superior semicircular canal dehiscence MS Hildebrand, D Tack, A DeLuca, I Hur, JM Van Rybroek, SJ McMordie, ... American Journal of Medical Genetics Part A 149 (2), 280-285, 2009 | 60 | 2009 |
| Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus MS Hildebrand, D Tack, SJ McMordie, A DeLuca, IA Hur, C Nishimura, ... Genetics in Medicine 10 (11), 797-804, 2008 | 59 | 2008 |
| Congenital myopathy is caused by mutation of HACD1 E Muhammad, O Reish, Y Ohno, T Scheetz, A DeLuca, C Searby, ... Human molecular genetics 22 (25), 5229-5236, 2013 | 56 | 2013 |
| Spectacle: an interactive resource for ocular single-cell RNA sequencing data analysis AP Voigt, SS Whitmore, ND Lessing, AP DeLuca, BA Tucker, EM Stone, ... Experimental eye research 200, 108204, 2020 | 54 | 2020 |
Todd ScheetzUniversity of IowaVerified email at uiowa.edu
