Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant

by Desai, Akshatha, Connolly, John J., March, Michael, Hou, Cuiping, Chiavacci, Rosetta, Kim, Cecilia, Lyon, Gholson, Hadley, Dexter, Hakonarson, Hakon
Published 2016

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function

by Li, Dong, Bhoj, Elizabeth, McCormick, Elizabeth, Wang, Fengxiang, Snyder, James, Wang, Tiancheng, Zhao, Yan, Kim, Cecilia, Chiavacci, Rosetta, Tian, Lifeng, Falk, Marni J., Hakonarson, Hakon
Published 2016

Gene Network Analysis in a Pediatric Cohort Identifies Novel Lung Function Genes

by Ong, Bruce A., Li, Jin, McDonough, Joseph M., Wei, Zhi, Kim, Cecilia, Chiavacci, Rosetta, Mentch, Frank, Caboot, Jason B., Spergel, Jonathan, Allen, Julian L., Sleiman, Patrick M. A., Hakonarson, Hakon
Published 2013

Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study

by Cardinale, Christopher J., Li, Dong, Tian, Lifeng, Connolly, John J., March, Michael E., Hou, Cuiping, Wang, Fengxiang, Snyder, James, Kim, Cecilia E., Chiavacci, Rosetta M., Sleiman, Patrick M., Burnham, Jon M., Hakonarson, Hakon
Published 2016

A Genome-Wide Meta-Analysis of Six Type 1 Diabetes Cohorts Identifies Multiple Associated Loci

by Bradfield, Jonathan P., Qu, Hui-Qi, Wang, Kai, Zhang, Haitao, Sleiman, Patrick M., Kim, Cecilia E., Mentch, Frank D., Qiu, Haijun, Glessner, Joseph T., Thomas, Kelly A., Frackelton, Edward C., Chiavacci, Rosetta M., Imielinski, Marcin, Monos, Dimitri S., Pandey, Rahul, Bakay, Marina, Grant, Struan F. A., Polychronakos, Constantin, Hakonarson, Hakon
Published 2011

Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry

by Grant, Struan FA, Petri, Michelle, Bradfield, Jonathan P, Kim, Cecilia E, Santa, Erin, Annaiah, Kiran, Frackelton, Edward C, Glessner, Joseph T, Otieno, F George, Shaner, Julie L, Smith, Ryan M, Eckert, Andrew W, Chiavacci, Rosetta M, Imielinski, Marcin, Sullivan, Kathleen E, Hakonarson, Hakon
Published 2009

The missense variation landscape of FTO, MC4R and TMEM18 in obese children of African ancestry

by Deliard, Sandra, Panossian, Saarene, Mentch, Frank D., Kim, Cecilia E., Hou, Cuiping, Frackelton, Edward C., Bradfield, Jonathan P., Glessner, Joseph T., Zhang, Haitao, Wang, Kai, Sleiman, Patrick M.A., Chiavacci, Rosetta M., Berkowitz, Robert I., Hakonarson, Hakon, Zhao, Jianhua, Grant, Struan F.A.
Published 2013

Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism

by Wang, Yanping, Li, Jin, Kolon, Thomas F., Olivant Fisher, Alicia, Figueroa, T. Ernesto, BaniHani, Ahmad H., Hagerty, Jennifer A., Gonzalez, Ricardo, Noh, Paul H., Chiavacci, Rosetta M., Harden, Kisha R., Abrams, Debra J., Stabley, Deborah, Kim, Cecilia E., Sol-Church, Katia, Hakonarson, Hakon, Devoto, Marcella, Barthold, Julia Spencer
Published 2016

Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility

by Finkel, Terri H., Li, Jin, Wei, Zhi, Wang, Wei, Zhang, Haitao, Behrens, Edward M., Reuschel, Emma L., Limou, Sophie, Wise, Carol, Punaro, Marilynn, Becker, Mara L., Munro, Jane E., Flatø, Berit, Førre, Øystein, Thompson, Susan D., Langefeld, Carl D., Glass, David N., Glessner, Joseph T., Kim, Cecilia E., Frackelton, Edward, Shivers, Debra K., Thomas, Kelly A., Chiavacci, Rosetta M., Hou, Cuiping, Xu, Kexiang, Snyder, James, Qiu, Haijun, Mentch, Frank, Wang, Kai, Winkler, Cheryl A., Lie, Benedicte A., Ellis, Justine A., Hakonarson, Hakon
Published 2016

Genetic sharing and heritability of paediatric age of onset autoimmune diseases

by Li, Yun R., Zhao, Sihai D., Li, Jin, Bradfield, Jonathan P., Mohebnasab, Maede, Steel, Laura, Kobie, Julie, Abrams, Debra J., Mentch, Frank D., Glessner, Joseph T., Guo, Yiran, Wei, Zhi, Connolly, John J., Cardinale, Christopher J., Bakay, Marina, Li, Dong, Maggadottir, S. Melkorka, Thomas, Kelly A., Qui, Haijun, Chiavacci, Rosetta M., Kim, Cecilia E., Wang, Fengxiang, Snyder, James, Flatø, Berit, Førre, Øystein, Denson, Lee A., Thompson, Susan D., Becker, Mara L., Guthery, Stephen L., Latiano, Anna, Perez, Elena, Resnick, Elena, Strisciuglio, Caterina, Staiano, Annamaria, Miele, Erasmo, Silverberg, Mark S., Lie, Benedicte A., Punaro, Marilynn, Russell, Richard K., Wilson, David C., Dubinsky, Marla C., Monos, Dimitri S., Annese, Vito, Munro, Jane E., Wise, Carol, Chapel, Helen, Cunningham-Rundles, Charlotte, Orange, Jordan S., Behrens, Edward M., Sullivan, Kathleen E., Kugathasan, Subra, Griffiths, Anne M., Satsangi, Jack, Grant, Struan F. A., Sleiman, Patrick M. A., Finkel, Terri H., Polychronakos, Constantin, Baldassano, Robert N., Luning Prak, Eline T., Ellis, Justine A., Li, Hongzhe, Keating, Brendan J., Hakonarson, Hakon
Published 2015

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

by Sawcer, Stephen, Hellenthal, Garrett, Pirinen, Matti, Spencer, Chris C.A., Patsopoulos, Nikolaos A., Moutsianas, Loukas, Dilthey, Alexander, Su, Zhan, Freeman, Colin, Hunt, Sarah E., Edkins, Sarah, Gray, Emma, Booth, David R., Potter, Simon C., Goris, An, Band, Gavin, Oturai, Annette Bang, Strange, Amy, Saarela, Janna, Bellenguez, Céline, Fontaine, Bertrand, Gillman, Matthew, Hemmer, Bernhard, Gwilliam, Rhian, Zipp, Frauke, Jayakumar, Alagurevathi, Martin, Roland, Leslie, Stephen, Hawkins, Stanley, Giannoulatou, Eleni, D’alfonso, Sandra, Blackburn, Hannah, Boneschi, Filippo Martinelli, Liddle, Jennifer, Harbo, Hanne F., Perez, Marc L., Spurkland, Anne, Waller, Matthew J, Mycko, Marcin P., Ricketts, Michelle, Comabella, Manuel, Hammond, Naomi, Kockum, Ingrid, McCann, Owen T., Ban, Maria, Whittaker, Pamela, Kemppinen, Anu, Weston, Paul, Hawkins, Clive, Widaa, Sara, Zajicek, John, Dronov, Serge, Robertson, Neil, Bumpstead, Suzannah J., Barcellos, Lisa F., Ravindrarajah, Rathi, Abraham, Roby, Alfredsson, Lars, Ardlie, Kristin, Aubin, Cristin, Baker, Amie, Baker, Katharine, Baranzini, Sergio E., Bergamaschi, Laura, Bergamaschi, Roberto, Bernstein, Allan, Berthele, Achim, Boggild, Mike, Bradfield, Jonathan P., Brassat, David, Broadley, Simon A., Buck, Dorothea, Butzkueven, Helmut, Capra, Ruggero, Carroll, William M., Cavalla, Paola, Celius, Elisabeth G., Cepok, Sabine, Chiavacci, Rosetta, Clerget-Darpoux, Françoise, Clysters, Katleen, Comi, Giancarlo, Cossburn, Mark, Cournu-Rebeix, Isabelle, Cox, Mathew B., Cozen, Wendy, Cree, Bruce A.C., Cross, Anne H., Cusi, Daniele, Daly, Mark J., Davis, Emma, de Bakker, Paul I.W., Debouverie, Marc, D’hooghe, Marie Beatrice, Dixon, Katherine, Dobosi, Rita, Dubois, Bénédicte, Ellinghaus, David, Elovaara, Irina, Esposito, Federica, Fontenille, Claire, Foote, Simon, Franke, Andre, Galimberti, Daniela, Ghezzi, Angelo, Glessner, Joseph, Gomez, Refujia, Gout, Olivier, Graham, Colin, Grant, Struan F.A., Guerini, Franca Rosa, Hakonarson, Hakon, Hall, Per, Hamsten, Anders, Hartung, Hans-Peter, Heard, Rob N., Heath, Simon, Hobart, Jeremy, Hoshi, Muna, Infante-Duarte, Carmen, Ingram, Gillian, Ingram, Wendy, Islam, Talat, Jagodic, Maja, Kabesch, Michael, Kermode, Allan G., Kilpatrick, Trevor J., Kim, Cecilia, Klopp, Norman, Koivisto, Keijo, Larsson, Malin, Lathrop, Mark, Lechner-Scott, Jeannette S., Leone, Maurizio A., Leppä, Virpi, Liljedahl, Ulrika, Bomfim, Izaura Lima, Lincoln, Robin R., Link, Jenny, Liu, Jianjun, Lorentzen, Åslaug R., Lupoli, Sara, Macciardi, Fabio, Mack, Thomas, Marriott, Mark, Martinelli, Vittorio, Mason, Deborah, McCauley, Jacob L., Mentch, Frank, Mero, Inger-Lise, Mihalova, Tania, Montalban, Xavier, Mottershead, John, Myhr, Kjell-Morten, Naldi, Paola, Ollier, William, Page, Alison, Palotie, Aarno, Pelletier, Jean, Piccio, Laura, Pickersgill, Trevor, Piehl, Fredrik, Pobywajlo, Susan, Quach, Hong L., Ramsay, Patricia P., Reunanen, Mauri, Reynolds, Richard, Rioux, John D., Rodegher, Mariaemma, Roesner, Sabine, Rubio, Justin P., Rückert, Ina-Maria, Salvetti, Marco, Salvi, Erika, Santaniello, Adam, Schaefer, Catherine A., Schreiber, Stefan, Schulze, Christian, Scott, Rodney J., Sellebjerg, Finn, Selmaj, Krzysztof W., Sexton, David, Shen, Ling, Simms-Acuna, Brigid, Skidmore, Sheila, Sleiman, Patrick M.A., Smestad, Cathrine, Sørensen, Per Soelberg, Søndergaard, Helle Bach, Stankovich, Jim, Strange, Richard C., Sulonen, Anna-Maija, Sundqvist, Emilie, Syvänen, Ann-Christine, Taddeo, Francesca, Taylor, Bruce, Blackwell, Jenefer M., Tienari, Pentti, Bramon, Elvira, Tourbah, Ayman, Brown, Matthew A., Tronczynska, Ewa, Casas, Juan P., Tubridy, Niall, Corvin, Aiden, Vickery, Jane, Jankowski, Janusz, Villoslada, Pablo, Markus, Hugh S., Wang, Kai, Mathew, Christopher G., Wason, James, Palmer, Colin N.A., Wichmann, H-Erich, Plomin, Robert, Willoughby, Ernest, Rautanen, Anna, Winkelmann, Juliane, Wittig, Michael, Trembath, Richard C., Yaouanq, Jacqueline, Viswanathan, Ananth C., Zhang, Haitao, Wood, Nicholas W., Zuvich, Rebecca, Deloukas, Panos, Langford, Cordelia, Duncanson, Audrey, Oksenberg, Jorge R., Pericak-Vance, Margaret A., Haines, Jonathan L., Olsson, Tomas, Hillert, Jan, Ivinson, Adrian J., De Jager, Philip L., Peltonen, Leena, Stewart, Graeme J., Hafler, David A., Hauser, Stephen L., McVean, Gil, Donnelly, Peter, Compston, Alastair
Published 2011