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Adam P. DeLuca, Ph.D. - Publications

Affiliations: 
2013 Biomedical Engineering University of Iowa, Iowa City, IA 
Area:
Bioinformatics Biology, Biomedical Engineering, Genetics
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37 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Burnight ER, Fenner BJ, Han IC, DeLuca AP, Whitmore SS, Bohrer LR, Andorf JL, Sohn EH, Mullins RF, Tucker BA, Stone EM. Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data. Human Molecular Genetics. PMID 37930186 DOI: 10.1093/hmg/ddad176  0.342
2020 Voigt AP, Whitmore SS, Lessing ND, DeLuca AP, Tucker BA, Stone EM, Mullins RF, Scheetz TE. Spectacle: An interactive resource for ocular single-cell RNA sequencing data analysis. Experimental Eye Research. 108204. PMID 32910939 DOI: 10.1016/J.Exer.2020.108204  0.339
2020 Voigt AP, Binkley E, Flamme-Wiese MJ, Zeng S, DeLuca AP, Scheetz TE, Tucker BA, Mullins RF, Stone EM. Single-Cell RNA Sequencing in Human Retinal Degeneration Reveals Distinct Glial Cell Populations. Cells. 9. PMID 32069977 DOI: 10.3390/Cells9020438  0.372
2017 Weihbrecht K, Goar WA, Pak T, Garrison JE, DeLuca AP, Stone EM, Scheetz TE, Sheffield VC. Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye. Medical Research Archives. 5. PMID 29457131 DOI: 10.18103/Mra.V5I9.1526  0.376
2017 DeLuca AP, Wallace LMA, Liebmann J, Ritch R, Kawase K, Kwon YH, Robin AL, Stone EM, Scheetz TE, Fingert JH. Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients. Journal of Glaucoma. PMID 28984711 DOI: 10.1097/Ijg.0000000000000792  0.317
2017 Stone EM, Andorf JL, Whitmore SS, DeLuca AP, Giacalone JC, Streb LM, Braun TA, Mullins RF, Scheetz TE, Sheffield VC, Tucker BA. Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease. Ophthalmology. PMID 28559085 DOI: 10.1016/J.Ophtha.2017.04.008  0.638
2017 Lewis C, Hedberg-Buenz A, DeLuca AP, Stone EM, Alward WLM, Fingert JH. Primary Congenital and Developmental Glaucomas. Human Molecular Genetics. PMID 28549150 DOI: 10.1093/Hmg/Ddx205  0.384
2016 Breen ME, Gaynor SC, Monson ET, de Klerk K, Parsons MG, Braun TA, DeLuca AP, Zandi PP, Potash JB, Willour VL. Targeted Sequencing of FKBP5 in Suicide Attempters with Bipolar Disorder. Plos One. 11: e0169158. PMID 28030643 DOI: 10.1371/Journal.Pone.0169158  0.598
2016 Gaynor SC, Breen ME, Monson ET, de Klerk K, Parsons M, DeLuca AP, Scheetz TE, Zandi PP, Potash JB, Willour VL. A targeted sequencing study of glutamatergic candidate genes in suicide attempters with bipolar disorder. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. PMID 27480506 DOI: 10.1002/Ajmg.B.32479  0.355
2016 Wiley LA, Burnight ER, DeLuca AP, Anfinson KR, Cranston CM, Kaalberg EE, Penticoff JA, Affatigato LM, Mullins RF, Stone EM, Tucker BA. cGMP production of patient-specific iPSCs and photoreceptor precursor cells to treat retinal degenerative blindness. Scientific Reports. 6: 30742. PMID 27471043 DOI: 10.1038/Srep30742  0.333
2016 Scheetz TE, Roos BR, Solivan-Timpe F, Miller K, DeLuca AP, Stone EM, Kwon YH, Alward WL, Wang K, Fingert JH. SQSTM1 Mutations and Glaucoma. Plos One. 11: e0156001. PMID 27275741 DOI: 10.1371/Journal.Pone.0156001  0.363
2015 Taylor KR, Booth KT, Azaiez H, Sloan CM, Kolbe DL, Glanz EN, Shearer AE, DeLuca AP, Anand VN, Hildebrand MS, Simpson AC, Eppsteiner RW, Scheetz TE, Braun TA, Huygen PL, et al. Audioprofile Surfaces: The 21st Century Audiogram. The Annals of Otology, Rhinology, and Laryngology. PMID 26530094 DOI: 10.1177/0003489415614863  0.548
2015 Small KW, DeLuca AP, Whitmore SS, Rosenberg T, Silva-Garcia R, Udar N, Puech B, Garcia CA, Rice TA, Fishman GA, Héon E, Folk JC, Streb LM, Haas CM, Wiley LA, et al. North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13. Ophthalmology. PMID 26507665 DOI: 10.1016/J.Ophtha.2015.10.006  0.361
2015 DeLuca AP, Whitmore SS, Barnes J, Sharma TP, Westfall TA, Scott CA, Weed MC, Wiley JS, Wiley LA, Johnston RM, Schnieders MJ, Lentz SR, Tucker BA, Mullins RF, Scheetz TE, et al. Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. Human Molecular Genetics. PMID 26494905 DOI: 10.1093/Hmg/Ddv446  0.434
2015 DeLuca AP, Weed MC, Haas CM, Halder JA, Stone EM. Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness. Jama Ophthalmology. PMID 26022370 DOI: 10.1001/Jamaophthalmol.2015.1463  0.318
2015 Weed MC, Lambert SR, Larson SA, Olson RJ, Longmuir SQ, DeLuca AP, Andorf JL, Stone EM, Drack AV. Genetic testing for congenital cataracts Journal of American Association For Pediatric Ophthalmology and Strabismus. 19: e18. DOI: 10.1016/J.Jaapos.2015.07.038  0.366
2014 Whitmore SS, Wagner AH, DeLuca AP, Drack AV, Stone EM, Tucker BA, Zeng S, Braun TA, Mullins RF, Scheetz TE. Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq. Experimental Eye Research. 129: 93-106. PMID 25446321 DOI: 10.1016/J.Exer.2014.11.001  0.63
2014 Ephraim SS, Anand N, DeLuca AP, Taylor KR, Kolbe DL, Simpson AC, Azaiez H, Sloan CM, Shearer AE, Hallier AR, Casavant TL, Scheetz TE, Smith RJ, Braun TA. Cordova: web-based management of genetic variation data. Bioinformatics (Oxford, England). 30: 3438-9. PMID 25123904 DOI: 10.1093/Bioinformatics/Btu539  0.627
2014 Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, ... ... DeLuca AP, et al. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biology. 15: R53. PMID 24667040 DOI: 10.1186/Gb-2014-15-3-R53  0.645
2013 Muhammad E, Reish O, Ohno Y, Scheetz T, Deluca A, Searby C, Regev M, Benyamini L, Fellig Y, Kihara A, Sheffield VC, Parvari R. Congenital myopathy is caused by mutation of HACD1. Human Molecular Genetics. 22: 5229-36. PMID 23933735 DOI: 10.1093/Hmg/Ddt380  0.364
2013 Braun TA, Mullins RF, Wagner AH, Andorf JL, Johnston RM, Bakall BB, Deluca AP, Fishman GA, Lam BL, Weleber RG, Cideciyan AV, Jacobson SG, Sheffield VC, Tucker BA, Stone EM. Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. Human Molecular Genetics. 22: 5136-45. PMID 23918662 DOI: 10.1093/Hmg/Ddt367  0.663
2013 Shearer AE, Black-Ziegelbein EA, Hildebrand MS, Eppsteiner RW, Ravi H, Joshi S, Guiffre AC, Sloan CM, Happe S, Howard SD, Novak B, Deluca AP, Taylor KR, Scheetz TE, Braun TA, et al. Advancing genetic testing for deafness with genomic technology. Journal of Medical Genetics. 50: 627-34. PMID 23804846 DOI: 10.1136/Jmedgenet-2013-101749  0.668
2013 Wagner AH, Taylor KR, DeLuca AP, Casavant TL, Mullins RF, Stone EM, Scheetz TE, Braun TA. Prioritization of retinal disease genes: an integrative approach. Human Mutation. 34: 853-9. PMID 23508994 DOI: 10.1002/Humu.22317  0.633
2013 Wagner AH, Anand VN, Wang WH, Chatterton JE, Sun D, Shepard AR, Jacobson N, Pang IH, Deluca AP, Casavant TL, Scheetz TE, Mullins RF, Braun TA, Clark AF. Exon-level expression profiling of ocular tissues. Experimental Eye Research. 111: 105-11. PMID 23500522 DOI: 10.1016/J.Exer.2013.03.004  0.605
2013 Taylor KR, Deluca AP, Shearer AE, Hildebrand MS, Black-Ziegelbein EA, Anand VN, Sloan CM, Eppsteiner RW, Scheetz TE, Huygen PL, Smith RJ, Braun TA, Casavant TL. AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening. Human Mutation. 34: 539-45. PMID 23280582 DOI: 10.1002/Humu.22268  0.667
2012 Eppsteiner RW, Shearer AE, Hildebrand MS, Deluca AP, Ji H, Dunn CC, Black-Ziegelbein EA, Casavant TL, Braun TA, Scheetz TE, Scherer SE, Hansen MR, Gantz BJ, Smith RJ. Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis. Hearing Research. 292: 51-8. PMID 22975204 DOI: 10.1016/J.Heares.2012.08.007  0.594
2012 Eppsteiner RW, Shearer AE, Hildebrand MS, Taylor KR, Deluca AP, Scherer S, Huygen P, Scheetz TE, Braun TA, Casavant TL, Smith RJ. Using the phenome and genome to improve genetic diagnosis for deafness. Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery. 147: 975-7. PMID 22785243 DOI: 10.1177/0194599812454271  0.659
2011 Tucker BA, Scheetz TE, Mullins RF, DeLuca AP, Hoffmann JM, Johnston RM, Jacobson SG, Sheffield VC, Stone EM. 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. Proceedings of the National Academy of Sciences of the United States of America. 108: E569-76. PMID 21825139 DOI: 10.1073/Pnas.1108918108  0.409
2011 Hildebrand MS, Morín M, Meyer NC, Mayo F, Modamio-Hoybjor S, Mencía A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, et al. DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Human Mutation. 32: 825-34. PMID 21520338 DOI: 10.1002/Humu.21512  0.611
2011 Zheng J, Miller KK, Yang T, Hildebrand MS, Shearer AE, DeLuca AP, Scheetz TE, Drummond J, Scherer SE, Legan PK, Goodyear RJ, Richardson GP, Cheatham MA, Smith RJ, Dallos P. Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4). Proceedings of the National Academy of Sciences of the United States of America. 108: 4218-23. PMID 21368133 DOI: 10.1073/Pnas.1005842108  0.314
2011 DeLuca AP, Wagner AH, Taylor KR, Faga B, Thole D, Sheffield VC, Stone EM, Casavant TL, Scheetz TE, Braun TA. Sequencing and disease variation detection tools and techniques Proceedings of Ieee/Acs International Conference On Computer Systems and Applications, Aiccsa. 80-83. DOI: 10.1109/AICCSA.2011.6126607  0.577
2011 Taylor KR, DeLuca AP, Goodman CW, Tompkins BW, Scheetz TE, Hildebrand MS, Huygen PLM, Smith RJH, Braun TA, Casavant TL. AudioGene: Computer-based prediction of genetic factors involved in non-syndromic hearing impairment Proceedings of Ieee/Acs International Conference On Computer Systems and Applications, Aiccsa. 75-79. DOI: 10.1109/AICCSA.2011.6126605  0.591
2011 Maga T, Deluca A, Taylor K, Scherer S, Scheetz T, Smith R. Targeted-genomic capture and high-throughput sequencing for genetic testing and new gene discovery in atypical hemolytic uremic syndrome Molecular Immunology. 48: 1666. DOI: 10.1016/J.Molimm.2011.06.222  0.406
2010 Shearer AE, DeLuca AP, Hildebrand MS, Taylor KR, Gurrola J, Scherer S, Scheetz TE, Smith RJ. Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proceedings of the National Academy of Sciences of the United States of America. 107: 21104-9. PMID 21078986 DOI: 10.1073/Pnas.1012989107  0.451
2009 Hildebrand MS, DeLuca AP, Taylor KR, Hoskinson DP, Hur IA, Tack D, McMordie SJ, Huygen PL, Casavant TL, Smith RJ. A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss. The Laryngoscope. 119: 2211-5. PMID 19780026 DOI: 10.1002/Lary.20664  0.322
2009 Hildebrand MS, Tack D, Deluca A, Hur IA, Van Rybroek JM, McMordie SJ, Muilenburg A, Hoskinson DP, Van Camp G, Pensak ML, Storper IS, Huygen PL, Casavant TL, Smith RJ. Mutation in the COCH gene is associated with superior semicircular canal dehiscence. American Journal of Medical Genetics. Part A. 149: 280-5. PMID 19161137 DOI: 10.1002/Ajmg.A.32618  0.325
2008 Hildebrand MS, Tack D, McMordie SJ, DeLuca A, Hur IA, Nishimura C, Huygen P, Casavant TL, Smith RJ. Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 10: 797-804. PMID 18941426 DOI: 10.1097/Gim.0B013E318187E106  0.371
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