Identifying core biological processes distinguishing human eye tissues with precise systems-level gene expression analyses and weighted correlation networks von Bryan, John M, Fufa, Temesgen D, Bharti, Kapil, Brooks, Brian P, Hufnagel, Robert B, McGaughey, David M

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A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin von Molloy, Anne M., Pangilinan, Faith, Mills, James L., Shane, Barry, O’Neill, Mary B., McGaughey, David M., Velkova, Aneliya, Abaan, Hatice Ozel, Ueland, Per M., McNulty, Helene, Ward, Mary, Strain, J.J., Cunningham, Conal, Casey, Miriam, Cropp, Cheryl D., Kim, Yoonhee, Bailey-Wilson, Joan E., Wilson, Alexander F., Brody, Lawrence C.

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Epithelial phenotype restoring drugs suppress macular degeneration phenotypes in an iPSC model von Sharma, Ruchi, George, Aman, Nimmagadda, Malika, Ortolan, Davide, Karla, Barbosa-Sabanero, Qureshy, Zoya, Bose, Devika, Dejene, Roba, Liang, Genqing, Wan, Qin, Chang, Justin, Jha, Balendu Shekhar, Memon, Omar, Miyagishima, Kiyoharu Joshua, Rising, Aaron, Lal, Madhu, Hanson, Eric, King, Rebecca, Campos, Mercedes Maria, Ferrer, Marc, Amaral, Juan, McGaughey, David, Bharti, Kapil

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Loss of the Vitamin B-12 Transport Protein Tcn2 Results in Maternally Inherited Growth and Developmental Defects in Zebrafish von Benoit, Courtney R, Walsh, Darren J, Mekerishvili, Levan, Houerbi, Nadia, Stanton, Abigail E, McGaughey, David M, Brody, Lawrence C

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Transcriptional mapping of the macaque retina and RPE-choroid reveals conserved inter-tissue transcription drivers and signaling pathways von Mungale, Ameera, McGaughey, David M, Zhang, Congxiao, Yousaf, Sairah, Liu, James, Brooks, Brian P, Maminishkis, Arvydas, Fufa, Temesgen D, Hufnagel, Robert B

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Building the mega single-cell transcriptome ocular meta-atlas von Swamy, Vinay S, Fufa, Temesgen D, Hufnagel, Robert B, McGaughey, David M

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Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure von Boobalan, Elangovan, Thompson, Amy H, Alur, Ramakrishna P, McGaughey, David M, Dong, Lijin, Shih, Grace, Vieta-Ferrer, Emile R, Onojafe, Ighovie F, Kalaskar, Vijay K, Arno, Gavin, Lotery, Andrew J, Guan, Bin, Bender, Chelsea, Memon, Omar, Brinster, Lauren, Soleilhavoup, Clement, Panman, Lia, Badea, Tudor C, Minella, Andrea, Lopez, Antonio Jacobo, Thomasy, Sara M, Moshiri, Ala, Blain, Delphine, Hufnagel, Robert B, Cogliati, Tiziana, Bharti, Kapil, Brooks, Brian P

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PLAE Web App Enables Powerful Searching and Multiple Visualizations Across One Million Unified Single-Cell Ocular Transcriptomes von Swamy, Vinay S., Batz, Zachary A., McGaughey, David M.

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Eye in a Disk: eyeIntegration Human Pan-Eye and Body Transcriptome Database Version 1.0 von Swamy, Vinay, McGaughey, David

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Steroid hormone modulation of RET through two estrogen responsive enhancers in breast cancer von Stine, Zachary E., McGaughey, David M., Bessling, Seneca L., Li, Shengchao, McCallion, Andrew S.

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Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b von McGaughey, David M, Vinton, Ryan M, Huynh, Jimmy, Al-Saif, Amr, Beer, Michael A, McCallion, Andrew S

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Genome-wide identification of conserved regulatory function in diverged sequences von Taher, Leila, McGaughey, David M, Maragh, Samantha, Aneas, Ivy, Bessling, Seneca L, Miller, Webb, Nobrega, Marcelo A, McCallion, Andrew S, Ovcharenko, Ivan

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Functional and phylogenetic characterization of noncanonical vitamin B12–binding proteins in zebrafish suggests involvement in cobalamin transport von Benoit, Courtney R., Stanton, Abigail E., Tartanian, Aileen C., Motzer, Andrew R., McGaughey, David M., Bond, Stephen R., Brody, Lawrence C.

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P475: Minimizing false negatives in NGS-based diagnostic testing by optimizing variant filtering strategy von Guan, Bin, Naik, Amelia, Ullah, Ehsan, McGaughey, David, Agather, Aime, Brooks, Brian, Hufnagel, Robert

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Genomics of CpG Methylation in Developing and Developed Zebrafish von McGaughey, David M, Abaan, Hatice Ozel, Miller, Ryan M, Kropp, Peter A, Brody, Lawrence C

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P488: Interrogating the pathologic noncoding genome with tissue-specific multiomics von Hufnagel, Robert, McGaughey, David, Mungale, Ameera, Kaya, Koray, Guan, Bin, Brinkmeier, Michelle, Prasov, Lev, Fufa, Temesgen

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Functional Variants in DPYSL2 Sequence Increase Risk of Schizophrenia and Suggest a Link to mTOR Signaling von Liu, Yaping, Pham, Xuan, Zhang, Lilei, Chen, Pei-lung, Burzynski, Grzegorz, McGaughey, David M, He, Shan, McGrath, John A, Wolyniec, Paula, Fallin, Margaret D, Pierce, Megan S, McCallion, Andrew S, Pulver, Ann E, Avramopoulos, Dimitrios, Valle, David

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Asymmetrical distribution of non-conserved regulatory sequences at PHOX2B is reflected at the ENCODE loci and illuminates a possible genome-wide trend von McGaughey, David M, Stine, Zachary E, Huynh, Jimmy L, Vinton, Ryan M, McCallion, Andrew S

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Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease von de Pontual, Loïc, Zaghloul, Norann A, Thomas, Sophie, Davis, Erica E, Mcgaughey, David M, Dollfus, Hélène, Baumann, Clarisse, Bessling, Seneca L, Babarit, Candice, Pelet, Anna, Gascue, Cecilia, Beales, Philip, Munnich, Arnold, Lyonnet, Stanislas, Etchevers, Heather, Attie-Bitach, Tania, Badano, Jose L, McCallion, Andrew S, Katsanis, Nicholas, Amiel, Jeanne

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Klf4 and corticosteroids activate an overlapping set of transcriptional targets to accelerate in utero epidermal barrier acquisition von Patel, Satyakam, Xi, Zong Fang, Seo, Eun Young, McGaughey, David, Segre, Julia A

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