Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development
Peyrard-Janvid, Myriam, Leslie, Elizabeth J., Kousa, Youssef A., Smith, Tiffany L., Dunnwald, Martine, Magnusson, Måns, Lentz, Brian A., Unneberg, Per, Fransson, Ingegerd, Koillinen, Hannele K., Rautio, Jorma, Pegelow, Marie, Karsten, Agneta, Basel-Vanagaite, Lina, Gordon, William, Andersen, Bogi, Svensson, Thomas, Murray, Jeffrey C., Cornell, Robert A., Kere, Juha, Schutte, Brian C.
Published in American journal of human genetics (02.01.2014)
Published in American journal of human genetics (02.01.2014)
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Identification of early requirements for preplacodal ectoderm and sensory organ development
Kwon, Hye-Joo, Bhat, Neha, Sweet, Elly M, Cornell, Robert A, Riley, Bruce B
Published in PLoS genetics (01.09.2010)
Published in PLoS genetics (01.09.2010)
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New Functional Signatures for Understanding Melanoma Biology from Tumor Cell Lineage-Specific Analysis
Rambow, Florian, Job, Bastien, Petit, Valérie, Gesbert, Franck, Delmas, Véronique, Seberg, Hannah, Meurice, Guillaume, Van Otterloo, Eric, Dessen, Philippe, Robert, Caroline, Gautheret, Daniel, Cornell, Robert A., Sarasin, Alain, Larue, Lionel
Published in Cell reports (Cambridge) (27.10.2015)
Published in Cell reports (Cambridge) (27.10.2015)
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A Gene Implicated in Activation of Retinoic Acid Receptor Targets Is a Novel Renal Agenesis Gene in Humans
Brophy, Patrick D, Rasmussen, Maria, Parida, Mrutyunjaya, Bonde, Greg, Darbro, Benjamin W, Hong, Xiaojing, Clarke, Jason C, Peterson, Kevin A, Denegre, James, Schneider, Michael, Sussman, Caroline R, Sunde, Lone, Lildballe, Dorte L, Hertz, Jens Michael, Cornell, Robert A, Murray, Stephen A, Manak, J Robert
Published in Genetics (Austin) (01.09.2017)
Published in Genetics (Austin) (01.09.2017)
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Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci
Leslie, Elizabeth J., Taub, Margaret A., Liu, Huan, Steinberg, Karyn Meltz, Koboldt, Daniel C., Zhang, Qunyuan, Carlson, Jenna C., Hetmanski, Jacqueline B., Wang, Hang, Larson, David E., Fulton, Robert S., Kousa, Youssef A., Fakhouri, Walid D., Naji, Ali, Ruczinski, Ingo, Begum, Ferdouse, Parker, Margaret M., Busch, Tamara, Standley, Jennifer, Rigdon, Jennifer, Hecht, Jacqueline T., Scott, Alan F., Wehby, George L., Christensen, Kaare, Czeizel, Andrew E., Deleyiannis, Frederic W.-B., Schutte, Brian C., Wilson, Richard K., Cornell, Robert A., Lidral, Andrew C., Weinstock, George M., Beaty, Terri H., Marazita, Mary L., Murray, Jeffrey C.
Published in American journal of human genetics (05.03.2015)
Published in American journal of human genetics (05.03.2015)
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MITF reprograms the extracellular matrix and focal adhesion in melanoma
Dilshat, Ramile, Fock, Valerie, Kenny, Colin, Gerritsen, Ilse, Lasseur, Romain Maurice Jacques, Travnickova, Jana, Eichhoff, Ossia M, Cerny, Philipp, Möller, Katrin, Sigurbjörnsdóttir, Sara, Kirty, Kritika, Einarsdottir, Berglind Ósk, Cheng, Phil F, Levesque, Mitchell, Cornell, Robert A, Patton, E Elizabeth, Larue, Lionel, de Tayrac, Marie, Magnúsdóttir, Erna, Ögmundsdóttir, Margrét Helga, Steingrimsson, Eirikur
Published in eLife (13.01.2021)
Published in eLife (13.01.2021)
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TFAP2 paralogs regulate melanocyte differentiation in parallel with MITF
Seberg, Hannah E, Van Otterloo, Eric, Loftus, Stacie K, Liu, Huan, Bonde, Greg, Sompallae, Ramakrishna, Gildea, Derek E, Santana, Juan F, Manak, J Robert, Pavan, William J, Williams, Trevor, Cornell, Robert A
Published in PLoS genetics (01.03.2017)
Published in PLoS genetics (01.03.2017)
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Transcription factor MITF and remodeller BRG1 define chromatin organisation at regulatory elements in melanoma cells
Laurette, Patrick, Strub, Thomas, Koludrovic, Dana, Keime, Céline, Le Gras, Stéphanie, Seberg, Hannah, Van Otterloo, Eric, Imrichova, Hana, Siddaway, Robert, Aerts, Stein, Cornell, Robert A, Mengus, Gabrielle, Davidson, Irwin
Published in eLife (24.03.2015)
Published in eLife (24.03.2015)
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Distinct requirements for wnt9a and irf6 in extension and integration mechanisms during zebrafish palate morphogenesis
Dougherty, Max, Kamel, George, Grimaldi, Michael, Gfrerer, Lisa, Shubinets, Valeriy, Ethier, Renee, Hickey, Graham, Cornell, Robert A, Liao, Eric C
Published in Development (Cambridge) (01.01.2013)
Published in Development (Cambridge) (01.01.2013)
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A mutation in the Srrm4 gene causes alternative splicing defects and deafness in the Bronx waltzer mouse
Nakano, Yoko, Jahan, Israt, Bonde, Gregory, Sun, Xingshen, Hildebrand, Michael S, Engelhardt, John F, Smith, Richard J H, Cornell, Robert A, Fritzsch, Bernd, Bánfi, Botond
Published in PLoS genetics (01.10.2012)
Published in PLoS genetics (01.10.2012)
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Interferon Regulatory Factor 6 Promotes Differentiation of the Periderm by Activating Expression of Grainyhead-Like 3
de la Garza, Gabriel, Schleiffarth, Jack Robert, Dunnwald, Martine, Mankad, Anuj, Weirather, Jason L., Bonde, Gregory, Butcher, Stephen, Mansour, Tamer A., Kousa, Youssef A., Fukazawa, Cindy F., Houston, Douglas W., Manak, J Robert, Schutte, Brian C., Wagner, Daniel S., Cornell, Robert A.
Published in Journal of investigative dermatology (01.01.2013)
Published in Journal of investigative dermatology (01.01.2013)
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HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice
Azaiez, Hela, Decker, Amanda R, Booth, Kevin T, Simpson, Allen C, Shearer, A Eliot, Huygen, Patrick L M, Bu, Fengxiao, Hildebrand, Michael S, Ranum, Paul T, Shibata, Seiji B, Turner, Ann, Zhang, Yuzhou, Kimberling, William J, Cornell, Robert A, Smith, Richard J H
Published in PLoS genetics (01.03.2015)
Published in PLoS genetics (01.03.2015)
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Analysis of zebrafish periderm enhancers facilitates identification of a regulatory variant near human KRT8/18
Liu, Huan, Duncan, Kaylia, Helverson, Annika, Kumari, Priyanka, Mumm, Camille, Xiao, Yao, Carlson, Jenna Colavincenzo, Darbellay, Fabrice, Visel, Axel, Leslie, Elizabeth, Breheny, Patrick, Erives, Albert J, Cornell, Robert A
Published in eLife (07.02.2020)
Published in eLife (07.02.2020)
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Functional Characterization of a Novel IRF6 Frameshift Mutation From a Van Der Woude Syndrome Family
Zhang, Mengqi, Zhang, Jieni, Zhao, Huaxiang, Ievlev, Vitaly, Zhong, Wenjie, Huang, Wenbin, Cornell, Robert A, Lin, Jiuxiang, Chen, Feng
Published in Frontiers in genetics (04.06.2020)
Published in Frontiers in genetics (04.06.2020)
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Differentiation of zebrafish melanophores depends on transcription factors AP2 alpha and AP2 epsilon
Van Otterloo, Eric, Li, Wei, Bonde, Gregory, Day, Kristopher M, Hsu, Mei-Yu, Cornell, Robert A
Published in PLoS genetics (01.09.2010)
Published in PLoS genetics (01.09.2010)
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Irf6 directly regulates Klf17 in zebrafish periderm and Klf4 in murine oral epithelium, and dominant-negative KLF4 variants are present in patients with cleft lip and palate
Liu, Huan, Leslie, Elizabeth J, Jia, Zhonglin, Smith, Tiffany, Eshete, Mekonen, Butali, Azeez, Dunnwald, Martine, Murray, Jeffrey, Cornell, Robert A
Published in Human molecular genetics (15.02.2016)
Published in Human molecular genetics (15.02.2016)
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TFAP2 paralogs regulate midfacial development in part through a conserved ALX genetic pathway
Nguyen, Timothy T, Mitchell, Jennyfer M, Kiel, Michaela D, Kenny, Colin P, Li, Hong, Jones, Kenneth L, Cornell, Robert A, Williams, Trevor J, Nichols, James T, Van Otterloo, Eric
Published in Development (Cambridge) (01.01.2024)
Published in Development (Cambridge) (01.01.2024)
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Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes
Lansdon, Lisa A., Dickinson, Amanda, Arlis, Sydney, Liu, Huan, Hlas, Arman, Hahn, Alyssa, Bonde, Greg, Long, Abby, Standley, Jennifer, Tyryshkina, Anastasia, Wehby, George, Lee, Nanette R., Daack-Hirsch, Sandra, Mohlke, Karen, Girirajan, Santhosh, Darbro, Benjamin W., Cornell, Robert A., Houston, Douglas W., Murray, Jeffrey C., Manak, J. Robert
Published in American journal of human genetics (05.01.2023)
Published in American journal of human genetics (05.01.2023)
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