David M. McGaughey

发表

PLAE Web App Enables Powerful Searching and Multiple Visualizations Across One Million Unified Single-Cell Ocular Transcriptomes

Z. Batz, Vinay S. Swamy, David M. McGaughey, 2022, bioRxiv.

Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure

T. Badea, G. Arno, A. Lotery, 2022, bioRxiv.

Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks

Temesgen D. Fufa, B. Brooks, R. Hufnagel, 2018, Human molecular genetics.

Identifying core biological processes distinguishing human eye tissues with systems-level gene expression analyses and weighted correlation networks

B. Brooks, R. Hufnagel, John M Bryan, 2017, bioRxiv.

Loss of the Vitamin B-12 Transport Protein Tcn2 Results in Maternally Inherited Growth and Developmental Defects in Zebrafish.

L. Brody, Nadia Houerbi, Levan Mekerishvili, 2021, The Journal of nutrition.

Functional and phylogenetic characterization of noncanonical vitamin B12–binding proteins in zebrafish suggests involvement in cobalamin transport

Stephen R. Bond, L. Brody, David M. McGaughey, 2018, The Journal of Biological Chemistry.

Clinical-grade stem cell–derived retinal pigment epithelium patch rescues retinal degeneration in rodents and pigs

Nathan Hotaling, Qin Wan, Arvydas Maminishkis, 2019, Science Translational Medicine.

Steroid hormone modulation of RET through two estrogen responsive enhancers in breast cancer.

Seneca L. Bessling, A. McCallion, D. McGaughey, 2011, Human molecular genetics.

Eye in a Disk: eyeIntegration Human Pan-Eye and Body Transcriptome Database Version 1.0

D. McGaughey, Vinay S. Swamy, David M. McGaughey, 2019, bioRxiv.

Efficient discovery of ASCL1 regulatory sequences through transgene pooling.

A. McCallion, David M. McGaughey, 2010, Genomics.

Functional Variants in DPYSL2 Sequence Increase Risk of Schizophrenia and Suggest a Link to mTOR Signaling

A. McCallion, J. McGrath, D. Avramopoulos, 2014, G3: Genes, Genomes, Genetics.

Building the Mega Single Cell Transcriptome Ocular Meta-Atlas

Temesgen D. Fufa, R. Hufnagel, Vinay S. Swamy, 2021, bioRxiv.

Asymmetrical distribution of non-conserved regulatory sequences at PHOX2B is reflected at the ENCODE loci and illuminates a possible genome-wide trend

R. Vinton, A. McCallion, Zachary E. Stine, 2009, BMC Genomics.

Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b.

Michael A. Beer, R. Vinton, A. McCallion, 2008, Genome research.

Genome-wide identification of conserved regulatory function in diverged sequences.

W. Miller, Seneca L. Bessling, A. McCallion, 2011, Genome research.

Building the mega single-cell transcriptome ocular meta-atlas.

Temesgen D. Fufa, R. Hufnagel, Vinay S. Swamy, 2021, GigaScience.

Genomics of CpG Methylation in Developing and Developed Zebrafish

H. Abaan, L. Brody, Ryan M. Miller, 2014, G3: Genes, Genomes, Genetics.

Epithelial phenotype restoring drugs suppress macular degeneration phenotypes in an iPSC model

M. Ferrer, B. Jha, A. George, 2021, Nature Communications.

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Seneca L. Bessling, A. McCallion, A. Munnich, 2009, Proceedings of the National Academy of Sciences.

A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin.

Alexander F. Wilson, A. F. Wilson, H. Abaan, 2016, American journal of human genetics.

North Carolina macular dystrophy: phenotypic variability and computational analysis of disease-implicated non-coding variants

P. Sergouniotis, E. Lenassi, C. Manning, 2021, medRxiv.

Transcriptional mapping of the macaque retina and RPE-choroid reveals conserved inter-tissue transcription drivers and signaling pathways

Temesgen D. Fufa, S. Yousaf, B. Brooks, 2022, bioRxiv.

A long read optimized de novo transcriptome pipeline reveals novel ocular developmentally regulated gene isoforms and disease targets

Temesgen D. Fufa, R. Hufnagel, Vinay S. Swamy, 2020, bioRxiv.

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

Temesgen D. Fufa, R. Hufnagel, Vinay S. Swamy, 2020 .

Klf4 and corticosteroids activate an overlapping set of transcriptional targets to accelerate in utero epidermal barrier acquisition

J. Segre, S. Patel, E. Seo, 2006, Proceedings of the National Academy of Sciences.

Cell-autonomous lipid-handling defects in Stargardt iPSC-derived retinal pigment epithelium cells

K. Boheler, M. Abu-Asab, R. Gundry, 2022, Stem cell reports.

Stem Cell Repor Cell-autonomous lipid-handling defects in Stargardt iPSC-derived retinal pigment epithelium cells

K. Boheler, M. Abu-Asab, R. Gundry, 2022 .

Connexin 26 regulates epidermal barrier and wound remodeling and promotes psoriasiform response.

J. Segre, A. Ishida-Yamamoto, S. Sinha, 2006, The Journal of clinical investigation.

Identification of RNA binding motif proteins essential for cardiovascular development

S. Fisher, Seneca L. Bessling, A. McCallion, 2011, BMC Developmental Biology.

North Carolina Macular Dystrophy: Phenotypic Variability and Computational Analysis of Disease-Associated Noncoding Variants

P. Sergouniotis, E. Lenassi, C. Manning, 2021, Investigative ophthalmology & visual science.