Cilia and Ciliopathies in Congenital Heart Disease

Por Klena, Nikolai T., Gibbs, Brian C., Lo, Cecilia W.
Publicado no Cold Spring Harb Perspect Biol (2017)

Isolation and Fluorescence Imaging for Single-particle Reconstruction of Chlamydomonas Centrioles

Por Klena, Nikolai, Gambarotto, Davide, Le Guennec, Maeva, Borgers, Susanne, Guichard, Paul, Hamel, Virginie
Publicado no J Vis Exp (2018)

Cyclic Di-GMP Phosphodiesterases RmdA and RmdB Are Involved in Regulating Colony Morphology and Development in Streptomyces coelicolor

Por Hull, Travis D., Ryu, Min-Hyung, Sullivan, Matthew J., Johnson, Ryan C., Klena, Nikolai T., Geiger, Robert M., Gomelsky, Mark, Bennett, Jennifer A.
Publicado em 2012

Genetic link between renal birth defects and congenital heart disease

Por San Agustin, Jovenal T., Klena, Nikolai, Granath, Kristi, Panigrahy, Ashok, Stewart, Eileen, Devine, William, Strittmatter, Lara, Jonassen, Julie A., Liu, Xiaoqin, Lo, Cecilia W., Pazour, Gregory J.
Publicado no Nat Commun (2016)

Erratum: Genetic link between renal birth defects and congenital heart disease

Por San Agustin, Jovenal T., Klena, Nikolai, Granath, Kristi, Panigrahy, Ashok, Stewart, Eileen, Devine, William, Strittmatter, Lara, Jonassen, Julie A., Liu, Xiaoqin, Lo, Cecilia W., Pazour, Gregory J.
Publicado no Nat Commun (2016)

Assessment of ciliary phenotype in primary ciliary dyskinesia by micro-optical coherence tomography

Por Solomon, George M., Francis, Richard, Chu, Kengyeh K., Birket, Susan E., Gabriel, George, Trombley, John E., Lemke, Kristi L., Klena, Nikolai, Turner, Brett, Tearney, Guillermo J., Lo, Cecilia W., Rowe, Steven M.
Publicado no JCI Insight (2017)

ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning

Por Czarnecki, Peter G., Gabriel, George C., Manning, Danielle K., Sergeev, Mikhail, Lemke, Kristi, Klena, Nikolai T., Liu, Xiaoqin, Chen, Yu, Li, You, San Agustin, Jovenal T., Garnaas, Maija K., Francis, Richard J., Tobita, Kimimasa, Goessling, Wolfram, Pazour, Gregory J., Lo, Cecilia W., Beier, David R., Shah, Jagesh V.
Publicado no Nat Commun (2015)

Global genetic analysis in mice unveils central role for cilia in congenital heart disease

Por Li, You, Klena, Nikolai T., Gabriel, George C, Liu, Xiaoqin, Kim, Andrew J., Lemke, Kristi, Chen, Yu, Chatterjee, Bishwanath, Devine, William, Damerla, Rama Rao, Chang, Chien-fu, Yagi, Hisato, San Agustin, Jovenal T., Thahir, Mohamed, Anderton, Shane, Lawhead, Caroline, Vescovi, Anita, Pratt, Herbert, Morgan, Judy, Haynes, Leslie, Smith, Cynthia L., Eppig, Janan T., Reinholdt, Laura, Francis, Richard, Leatherbury, Linda, Ganapathiraju, Madhavi K., Tobita, Kimimasa, Pazour, Gregory J., Lo, Cecilia W.
Publicado no Nature (2015)

The complex genetics of hypoplastic left heart syndrome

Por Liu, Xiaoqin, Yagi, Hisato, Saeed, Saeed, Bais, Abha S, Gabriel, George C, Chen, Zhaohan, Peterson, Kevin A, Li, You, Schwartz, Molly C, Reynolds, William T, Saydmohammed, Manush, Gibbs, Brian, Wu, Yijen, Devine, William, Chatterjee, Bishwanath, Klena, Nikolai T, Kostka, Dennis, Bentley, Karen L de Mesy, Ganapathiraju, Madhavi K, Dexheimer, Phillip, Leatherbury, Linda, Khalifa, Omar, Bhagat, Anchit, Zahid, Maliha, Pu, William, Watkins, Simon, Grossfeld, Paul, Murray, Stephen A, Porter, George A, Tsang, Michael, Martin, Lisa J, Benson, D Woodrow, Aronow, Bruce J, Lo, Cecilia W
Publicado no Nat Genet (2017)

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

Por Hjeij, Rim, Onoufriadis, Alexandros, Watson, Christopher M., Slagle, Christopher E., Klena, Nikolai T., Dougherty, Gerard W., Kurkowiak, Małgorzata, Loges, Niki T., Diggle, Christine P., Morante, Nicholas F.C., Gabriel, George C., Lemke, Kristi L., Li, You, Pennekamp, Petra, Menchen, Tabea, Konert, Franziska, Marthin, June Kehlet, Mans, Dorus A., Letteboer, Stef J.F., Werner, Claudius, Burgoyne, Thomas, Westermann, Cordula, Rutman, Andrew, Carr, Ian M., O’Callaghan, Christopher, Moya, Eduardo, Chung, Eddie M.K., Sheridan, Eamonn, Nielsen, Kim G., Roepman, Ronald, Bartscherer, Kerstin, Burdine, Rebecca D., Lo, Cecilia W., Omran, Heymut, Mitchison, Hannah M.
Publicado em 2014

MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates

Por Guimier, Anne, Gabriel, George C., Bajolle, Fanny, Tsang, Michael, Liu, Hui, Noll, Aaron, Schwartz, Molly, El Malti, Rajae, Smith, Laurie D., Klena, Nikolai T., Jimenez, Gina, Miller, Neil A., Oufadem, Myriam, Moreau de Bellaing, Anne, Yagi, Hisato, Saunders, Carol J., Baker, Candice N., Di Filippo, Sylvie, Peterson, Kevin A., Thiffault, Isabelle, Bole-Feysot, Christine, Cooley, Linda D., Farrow, Emily G., Masson, Cécile, Schoen, Patric, Deleuze, Jean-François, Nitschké, Patrick, Lyonnet, Stanislas, de Pontual, Loic, Murray, Stephen A., Bonnet, Damien, Kingsmore, Stephen F., Amiel, Jeanne, Bouvagnet, Patrice, Lo, Cecilia W., Gordon, Christopher T.
Publicado no Nat Genet (2015)

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

Por Akawi, Nadia, McRae, Jeremy, Ansari, Morad, Balasubramanian, Meena, Blyth, Moira, Brady, Angela F., Clayton, Stephen, Cole, Trevor, Deshpande, Charu, Fitzgerald, Tomas W., Foulds, Nicola, Francis, Richard, Gabriel, George, Gerety, Sebastian S., Goodship, Judith, Hobson, Emma, Jones, Wendy D., Joss, Shelagh, King, Daniel, Klena, Nikolai, Kumar, Ajith, Lees, Melissa, Lelliott, Chris, Lord, Jenny, McMullan, Dominic, O'Regan, Mary, Osio, Deborah, Piombo, Virginia, Prigmore, Elena, Rajan, Diana, Rosser, Elisabeth, Sifrim, Alejandro, Smith, Audrey, Swaminathan, Ganesh J., Turnpenny, Peter, Whitworth, James, Wright, Caroline F., Firth, Helen V., Barrett, Jeffrey C., Lo, Cecilia W., FitzPatrick, David R., Hurles, Matthew E.
Publicado no Nat Genet (2015)

Exome-chip meta-analysis identifies novel loci associated with cardiac conduction, including ADAMTS6

Por Prins, Bram P., Mead, Timothy J., Brody, Jennifer A., Sveinbjornsson, Gardar, Ntalla, Ioanna, Bihlmeyer, Nathan A., van den Berg, Marten, Bork-Jensen, Jette, Cappellani, Stefania, Van Duijvenboden, Stefan, Klena, Nikolai T., Gabriel, George C., Liu, Xiaoqin, Gulec, Cagri, Grarup, Niels, Haessler, Jeffrey, Hall, Leanne M., Iorio, Annamaria, Isaacs, Aaron, Li-Gao, Ruifang, Lin, Honghuang, Liu, Ching-Ti, Lyytikäinen, Leo-Pekka, Marten, Jonathan, Mei, Hao, Müller-Nurasyid, Martina, Orini, Michele, Padmanabhan, Sandosh, Radmanesh, Farid, Ramirez, Julia, Robino, Antonietta, Schwartz, Molly, van Setten, Jessica, Smith, Albert V., Verweij, Niek, Warren, Helen R., Weiss, Stefan, Alonso, Alvaro, Arnar, David O., Bots, Michiel L., de Boer, Rudolf A., Dominiczak, Anna F., Eijgelsheim, Mark, Ellinor, Patrick T., Guo, Xiuqing, Felix, Stephan B., Harris, Tamara B., Hayward, Caroline, Heckbert, Susan R., Huang, Paul L., Jukema, J. W., Kähönen, Mika, Kors, Jan A., Lambiase, Pier D., Launer, Lenore J., Li, Man, Linneberg, Allan, Nelson, Christopher P., Pedersen, Oluf, Perez, Marco, Peters, Annette, Polasek, Ozren, Psaty, Bruce M., Raitakari, Olli T., Rice, Kenneth M., Rotter, Jerome I., Sinner, Moritz F., Soliman, Elsayed Z., Spector, Tim D., Strauch, Konstantin, Thorsteinsdottir, Unnur, Tinker, Andrew, Trompet, Stella, Uitterlinden, André, Vaartjes, Ilonca, van der Meer, Peter, Völker, Uwe, Völzke, Henry, Waldenberger, Melanie, Wilson, James G., Xie, Zhijun, Asselbergs, Folkert W., Dörr, Marcus, van Duijn, Cornelia M., Gasparini, Paolo, Gudbjartsson, Daniel F., Gudnason, Vilmundur, Hansen, Torben, Kääb, Stefan, Kanters, Jørgen K., Kooperberg, Charles, Lehtimäki, Terho, Lin, Henry J., Lubitz, Steven A., Mook-Kanamori, Dennis O., Conti, Francesco J., Newton-Cheh, Christopher H., Rosand, Jonathan, Rudan, Igor, Samani, Nilesh J., Sinagra, Gianfranco, Smith, Blair H., Holm, Hilma, Stricker, Bruno H., Ulivi, Sheila, Sotoodehnia, Nona, Apte, Suneel S., van der Harst, Pim, Stefansson, Kari, Munroe, Patricia B., Arking, Dan E., Lo, Cecilia W., Jamshidi, Yalda
Publicado no Genome Biol (2018)