Adam P DeLuca, Ph.D.
Adam P DeLuca, Ph.D.
Institute for Vision Research, The University of Iowa
Verified email at uiowa.edu
TitleCited byYear
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
2642010
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
1722011
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
1002011
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
992013
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
932013
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
762014
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
592011
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
562013
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
502012
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, 30742, 2016
482016
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
472017
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
472014
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
472009
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
442016
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
432008
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, 2015
402015
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
302013
A Contemporary Review of AudioGene audioprofiling: A machine‐based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss
MS Hildebrand, AP DeLuca, KR Taylor, DP Hoskinson, I Hur, D Tack, ...
The Laryngoscope 119 (11), 2211-2215, 2009
282009
Primary congenital and developmental glaucomas
CJ Lewis, A Hedberg-Buenz, AP DeLuca, EM Stone, WLM Alward, ...
Human molecular genetics 26 (R1), R28-R36, 2017
242017
Audio G ene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening
KR Taylor, AP DeLuca, AE Shearer, MS Hildebrand, EA Black‐Ziegelbein, ...
Human mutation 34 (4), 539-545, 2013
182013
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