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Author Details
Full Name
Adam P DeLuca
Affiliation
Institute for Vision Research, Carver College of Medicine, University of Iowa
ORCID
Career Start Year
2008
Papers
41
H Index
23
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
37106000
Modeling rod and cone photoreceptor cell survival in vivo using optical coherence tomography.
Sci Rep
2023
37930186
Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.
Hum Mol Genet
2023
37221451
Propensity of Patient-Derived iPSCs for Retinal Differentiation: Implications for Autologous Cell Replacement.
Stem Cells Transl Med
2023
31764884
AUTOIMMUNE RETINOPATHY MIMICKING HERITABLE RETINAL DEGENERATION IN A PATIENT WITH COMMON VARIABLE IMMUNE DEFICIENCY.
Retin Cases Brief Rep
2022
34174832
Exome-based investigation of the genetic basis of human pigmentary glaucoma.
BMC Genomics
2021
34504124
Label-free microfluidic enrichment of cancer cells from non-cancer cells in ascites.
Sci Rep
2021
34014299
Human photoreceptor cells from different macular subregions have distinct transcriptional profiles.
Hum Mol Genet
2021
33024232
Analysis of retinal sublayer thicknesses and rates of change in ABCA4-associated Stargardt disease.
Sci Rep
2020
32069977
Single-Cell RNA Sequencing in Human Retinal Degeneration Reveals Distinct Glial Cell Populations.
Cells
2020
31014769
Wide-Field Swept-Source OCT and Angiography in X-Linked Retinoschisis.
Ophthalmol Retina
2019
28549150
Primary congenital and developmental glaucomas.
Hum Mol Genet
2017
28400699
LADD syndrome with glaucoma is caused by a novel gene.
Mol Vis
2017
29457131
Keeping an Eye on Bardet-Biedl Syndrome: A Comprehensive Review of the Role of Bardet-Biedl Syndrome Genes in the Eye.
Med Res Arch
2017
28984711
Genomic Organization of TBK1 Copy Number Variations in Glaucoma Patients.
J Glaucoma
2017
28559085
Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.
Ophthalmology
2017
27275741
SQSTM1 Mutations and Glaucoma.
PLoS One
2016
26507665
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.
Ophthalmology
2016
26530094
Audioprofile Surfaces: The 21st Century Audiogram.
Ann Otol Rhinol Laryngol
2016
26494905
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.
Hum Mol Genet
2016
28030643
Targeted Sequencing of FKBP5 in Suicide Attempters with Bipolar Disorder.
PLoS One
2016
27480506
A targeted sequencing study of glutamatergic candidate genes in suicide attempters with bipolar disorder.
Am J Med Genet B Neuropsychiatr Genet
2016
27471043
cGMP production of patient-specific iPSCs and photoreceptor precursor cells to treat retinal degenerative blindness.
Sci Rep
2016
26022370
Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness.
JAMA Ophthalmol
2015
24667040
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Genome Biol
2014
25446321
Transcriptomic analysis across nasal, temporal, and macular regions of human neural retina and RPE/choroid by RNA-Seq.
Exp Eye Res
2014
25123904
Cordova: web-based management of genetic variation data.
Bioinformatics
2014
23280582
AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.
Hum Mutat
2013
23918662
Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.
Hum Mol Genet
2013
23933735
Congenital myopathy is caused by mutation of HACD1.
Hum Mol Genet
2013
23804846
Advancing genetic testing for deafness with genomic technology.
J Med Genet
2013
23508994
Prioritization of retinal disease genes: an integrative approach.
Hum Mutat
2013
23500522
Exon-level expression profiling of ocular tissues.
Exp Eye Res
2013
22785243
Using the phenome and genome to improve genetic diagnosis for deafness.
Otolaryngol Head Neck Surg
2012
22975204
Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis.
Hear Res
2012
21368133
Carcinoembryonic antigen-related cell adhesion molecule 16 interacts with alpha-tectorin and is mutated in autosomal dominant hearing loss (DFNA4).
Proc Natl Acad Sci U S A
2011
21825139
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.
Proc Natl Acad Sci U S A
2011
21520338
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.
Hum Mutat
2011
21078986
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.
Proc Natl Acad Sci U S A
2010
19161137
Mutation in the COCH gene is associated with superior semicircular canal dehiscence.
Am J Med Genet A
2009
19780026
A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss.
Laryngoscope
2009
18941426
Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.
Genet Med
2008
1 - 41 of 41
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Co-authored papers
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Alex H Wagner
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