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David M. McGaughey · SciRah

Researcher profile · Semantic Scholar

David M. McGaughey

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David M. McGaughey — researcher profile on SciRah

h-index: 17
Works: 41
Citations: 1,286

Most-cited papers

Clinical-Grade Stem Cell-Derived Retinal Pigment Epithelium Patch Rescues Retinal Degeneration in Rodents and Pigs
Ruchi Sharma, V. Khristov, Aaron Rising, B. S. Jha +22 more
2019Science Translational Medicine298 citations Open access
Semantic Scholar
Connexin 26 regulates epidermal barrier and wound remodeling and promotes psoriasiform response.
A. Djalilian, David M. McGaughey, S. Patel, E. Seo +6 more
2006Journal of Clinical Investigation130 citations Open access
Semantic Scholar
Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b.
David M. McGaughey, R. Vinton, Jimmy L. Huynh, A. Al-Saif +2 more
2008Genome Research121 citations Open access
Semantic Scholar
Genome-wide identification of conserved regulatory function in diverged sequences.
L. Taher, David M. McGaughey, Samantha Maragh, I. Aneas +5 more
2011Genome Research77 citations Open access
Semantic Scholar
Klf4 and corticosteroids activate an overlapping set of transcriptional targets to accelerate in utero epidermal barrier acquisition
S. Patel, Zong-Fang Xi, E. Seo, David M. McGaughey +1 more
2006Proceedings of the National Academy of Sciences of the United States of America76 citations Open access
Semantic Scholar
Epithelial phenotype restoring drugs suppress macular degeneration phenotypes in an iPSC model
Ruchi Sharma, A. George, Malika Nimmagadda, D. Ortolan +19 more
2021Nature Communications62 citations Open access
Semantic Scholar
Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease
L. de Pontual, Norann A. Zaghloul, S. Thomas, E. Davis +16 more
2009Proceedings of the National Academy of Sciences of the United States of America57 citations Open access
Semantic Scholar
Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks
John M. Bryan, Temesgen D. Fufa, K. Bharti, B. Brooks +2 more
2018Human Molecular Genetics54 citations Open access
Semantic Scholar
A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin.
A. Molloy, F. Pangilinan, J. Mills, B. Shane +15 more
2016American Journal of Human Genetics53 citations Open access
Semantic Scholar
Genomics of CpG Methylation in Developing and Developed Zebrafish
David M. McGaughey, H. Abaan, Ryan M. Miller, Peter A. Kropp +1 more
2014G3: Genes, Genomes, Genetics50 citations Open access
Semantic Scholar
Functional Variants in DPYSL2 Sequence Increase Risk of Schizophrenia and Suggest a Link to mTOR Signaling
Yaping Liu, X. Phạm, Lilei Zhang, Pei-Lung Chen +11 more
2014G3: Genes, Genomes, Genetics46 citations Open access
Semantic Scholar
Steroid hormone modulation of RET through two estrogen responsive enhancers in breast cancer.
Zachary E. Stine, David M. McGaughey, Seneca L. Bessling, Shengchao Li +1 more
2011Human Molecular Genetics46 citations Open access
Semantic Scholar
Building the Mega Single Cell Transcriptome Ocular Meta-Atlas
Vinay S. Swamy, Temesgen D. Fufa, R. Hufnagel, David M. McGaughey
2021bioRxiv40 citations Open access
Semantic Scholar
Cell-autonomous lipid-handling defects in Stargardt iPSC-derived retinal pigment epithelium cells
M. Farnoodian, Devika Bose, V. Khristov, P. J. Susaimanickam +14 more
2022Stem Cell Reports32 citations Open access
Semantic Scholar
Eye in a Disk: eyeIntegration Human Pan-Eye and Body Transcriptome Database Version 1.0
Vinay S. Swamy, David M. McGaughey
2019bioRxiv31 citations Open access
Semantic Scholar
Identification of RNA binding motif proteins essential for cardiovascular development
Samantha Maragh, Ronald A. Miller, Seneca L. Bessling, David M. McGaughey +7 more
2011BMC Developmental Biology30 citations Open access
Semantic Scholar
Asymmetrical distribution of non-conserved regulatory sequences at PHOX2B is reflected at the ENCODE loci and illuminates a possible genome-wide trend
David M. McGaughey, Zachary E. Stine, Jimmy L. Huynh, R. Vinton +1 more
2009BMC Genomics29 citations Open access
Semantic Scholar
North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants
D. J. Green, E. Lenassi, C. Manning, David M. McGaughey +4 more
2021Investigative Ophthalmology and Visual Science15 citations Open access
Semantic Scholar
Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure
Elangovan Boobalan, A. H. Thompson, Ramakrishna P. Alur, David M. McGaughey +23 more
2022bioRxiv10 citations Open access
Semantic Scholar
Functional and phylogenetic characterization of noncanonical vitamin B12–binding proteins in zebrafish suggests involvement in cobalamin transport
Courtney R. Benoit, Abigail E. Stanton, Aileen C. Tartanian, Andrew R. Motzer +3 more
2018Journal of Biological Chemistry10 citations Open access
Semantic Scholar
Variants in NR6A1 cause a novel oculo vertebral renal syndrome
Uma M. Neelathi, E. Ullah, Aman George, M. Maftei +19 more
2025Nature Communications7 citations Open access
Semantic Scholar
Transcriptional mapping of the macaque retina and RPE-choroid reveals conserved inter-tissue transcription drivers and signaling pathways
Ameera Mungale, David M. McGaughey, Cong-Xiao Zhang, Saira Yousaf +5 more
2022bioRxiv4 citations Open access
Semantic Scholar
Loss of the Vitamin B-12 Transport Protein Tcn2 Results in Maternally Inherited Growth and Developmental Defects in Zebrafish.
Courtney R. Benoit, Darren J. Walsh, Levan Mekerishvili, Nadia Houerbi +3 more
2021Journal of NutriLife4 citations Open access
Semantic Scholar
Efficient discovery of ASCL1 regulatory sequences through transgene pooling
David M. McGaughey, A. McCallion
2010Genomics4 citations Open access
Semantic Scholar
A long read optimized de novo transcriptome pipeline reveals novel ocular developmentally regulated gene isoforms and disease targets
Vinay S. Swamy, Temesgen D. Fufa, R. Hufnagel, David M. McGaughey
2020bioRxiv3 citations Open access
Semantic Scholar
Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome
Uma M. Neelathi, E. Ullah, Aman George, M. Maftei +19 more
2024medRxiv2 citations
Semantic Scholar
PLAE Web App Enables Powerful Searching and Multiple Visualizations Across One Million Unified Single-Cell Ocular Transcriptomes
Vinay S. Swamy, Zachary Batz, David M. McGaughey
2022bioRxiv2 citations Open access
Semantic Scholar
A peripheral subpopulation of retinal pigment epithelium resists oxidative damage through SERPINE3-mediated caspase-1 inhibition
Hui-Rong Li, Takerra K. Johnson-Stephenson, Vincent P. Kunze, Wei Yan +16 more
2026Journal of Clinical Investigation1 citations Open access
Semantic Scholar
A short read de novo transcriptome construction pipeline optimized by long reads reveals novel developmentally regulated gene isoforms and disease targets in hundreds of eye samples
Vinay S. Swamy, Temesgen D. Fufa, R. Hufnagel, David M. McGaughey
20201 citations Open access
Semantic Scholar
Multimodal genomic analysis of hydroxychloroquine toxicity in a large cohort
Ehsan Ullah, David M. McGaughey, Amy E. Turriff, P. Sieving +2 more
20191 citations
Semantic Scholar
Mesenchymal drift in ciliopathy iPSC-derived RPE reveals a convergent pathogenic cell state.
Dominik Reichert, Sena Gul, D. Ortolan, David M. McGaughey +14 more
2026Cell Reports0 citations Open access
Semantic Scholar
Transgene-Induced Chromosomal Rearrangement With Aberrant Human Vascular Endothelial Growth Factor at the Optic Fissure Leads to Uveal Coloboma in Mice
Yuhong Wang, Ramakrishna P. Alur, Vijay K Kalaskar, Aman George +12 more
2025Investigative Ophthalmology and Visual Science0 citations Open access
Semantic Scholar
Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome
Uma M. Neelathi, E. Ullah, Aman George, M. Maftei +19 more
2024Research Square0 citations Open access
Semantic Scholar
P475: Minimizing false negatives in NGS-based diagnostic testing by optimizing variant filtering strategy*
Bin Guan, Amelia Naik, Ehsan Ullah, David M. McGaughey +3 more
2023Genetics in Medicine Open0 citations Open access
Semantic Scholar
P488: Interrogating the pathologic noncoding genome with tissue-specific multiomics*
R. Hufnagel, David M. McGaughey, Ameera Mungale, Koray D. Kaya +4 more
2023Genetics in Medicine Open0 citations Open access
Semantic Scholar
North Carolina macular dystrophy: phenotypic variability and computational analysis of disease-implicated non-coding variants
D. J. Green, E. Lenassi, C. Manning, David M. McGaughey +4 more
2021medRxiv0 citations Open access
Semantic Scholar
SeeGEM: Lightweight interactive visualization of DNA sequence variation prioritization
David M. McGaughey
20180 citations Open access
Semantic Scholar
Beyond SNVs: comprehensive cohort-level analytics of 100 samples from the eyeGENE® program
R. Hufnagel, Bin Guan, David M. McGaughey, Melissa J. Reeves +6 more
20180 citations
Semantic Scholar
Identifying core biological processes distinguishing human eye tissues with systems-level gene expression analyses and weighted correlation networks
John M. Bryan, R. Hufnagel, B. Brooks, David M. McGaughey
2017bioRxiv0 citations Open access
Semantic Scholar
Functional evaluation of noncoding regulatory control provides novel insights into their constraint, distribution, and overlapping functions
David M. McGaughey
20100 citations
Semantic Scholar
Characterization of the Promoter Region of Connexin 26 and Its Regulation by Transcription Factors
A. Djalilian, David M. McGaughey, S. Patel, J. Segre
20050 citations
Semantic Scholar

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