|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|Primary congenital and developmental glaucomas|
CJ Lewis, A Hedberg-Buenz, AP DeLuca, EM Stone, WLM Alward, ...
Human molecular genetics 26 (R1), R28-R36, 2017
|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