A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci
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 in PLoS genetics (01.09.2011)
Published in PLoS genetics (01.09.2011)
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Iron overload-induced oxidative stress in myelodysplastic syndromes and its cellular sequelae
Kim, Cecilia H., Leitch, Heather A.
Published in Critical reviews in oncology/hematology (01.07.2021)
Published in Critical reviews in oncology/hematology (01.07.2021)
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Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis
Martignetti, John A., Tian, Lifeng, Li, Dong, Ramirez, Maria Celeste M., Camacho-Vanegas, Olga, Camacho, Sandra Catalina, Guo, Yiran, Zand, Dina J., Bernstein, Audrey M., Masur, Sandra K., Kim, Cecilia E., Otieno, Frederick G., Hou, Cuiping, Abdel-Magid, Nada, Tweddale, Ben, Metry, Denise, Fournet, Jean-Christophe, Papp, Eniko, McPherson, Elizabeth W., Zabel, Carrie, Vaksmann, Guy, Morisot, Cyril, Keating, Brendan, Sleiman, Patrick M., Cleveland, Jeffrey A., Everman, David B., Zackai, Elaine, Hakonarson, Hakon
Published in American journal of human genetics (06.06.2013)
Published in American journal of human genetics (06.06.2013)
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Journal Article
Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis
COUTHOUIS, Julien, HART, Michael P, KIM, Cecilia E, FRACKELTON, Edward C, SOLSKI, Jennifer A, WILLIAMS, Kelly L, CLAY-FALCONE, Dana, ELMAN, Lauren, MCCLUSKEY, Leo, GREENE, Robert, HAKONARSON, Hakon, KALB, Robert G, ERION, Renske, LEE, Virginia M. Y, TROJANOWSKI, John Q, NICHOLSON, Garth A, BLAIR, Ian P, BONINI, Nancy M, VAN DEERLIN, Vivianna M, MOURELATOS, Zissimos, SHORTER, James, GITLER, Aaron D, KING, Oliver D, DIAZ, Zamia, NAKAYA, Tadashi, IBRAHIM, Fadia, KIM, Hyung-Jun, MOJSILOVIC-PETROVIC, Jelena, PANOSSIAN, Saarene
Published in Human molecular genetics (01.07.2012)
Published in Human molecular genetics (01.07.2012)
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Journal Article
Genome-wide association identifies diverse causes of common variable immunodeficiency
Orange, Jordan S., MD, PhD, Glessner, Joseph T., MS, Resnick, Elena, MD, Sullivan, Kathleen E., MD, Lucas, Mary, MD, Ferry, Berne, MD, Kim, Cecilia E., BS, Hou, Cuiping, BS, Wang, Fengxiang, BS, Chiavacci, Rosetta, BSN, Kugathasan, Subra, MD, Sleasman, John W., MD, Baldassano, Robert, MD, Perez, Elena E., MD, Chapel, Helen, MD, Cunningham-Rundles, Charlotte, MD, Hakonarson, Hakon, MD, PhD
Published in Journal of allergy and clinical immunology (01.06.2011)
Published in Journal of allergy and clinical immunology (01.06.2011)
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Journal Article
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications
Shaikh, Tamim H, Gai, Xiaowu, Perin, Juan C, Glessner, Joseph T, Xie, Hongbo, Murphy, Kevin, O'Hara, Ryan, Casalunovo, Tracy, Conlin, Laura K, D'Arcy, Monica, Frackelton, Edward C, Geiger, Elizabeth A, Haldeman-Englert, Chad, Imielinski, Marcin, Kim, Cecilia E, Medne, Livija, Annaiah, Kiran, Bradfield, Jonathan P, Dabaghyan, Elvira, Eckert, Andrew, Onyiah, Chioma C, Ostapenko, Svetlana, Otieno, F George, Santa, Erin, Shaner, Julie L, Skraban, Robert, Smith, Ryan M, Elia, Josephine, Goldmuntz, Elizabeth, Spinner, Nancy B, Zackai, Elaine H, Chiavacci, Rosetta M, Grundmeier, Robert, Rappaport, Eric F, Grant, Struan F A, White, Peter S, Hakonarson, Hakon
Published in Genome Research (01.09.2009)
Published in Genome Research (01.09.2009)
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Journal Article
Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism
Li, Dong, Tian, Lifeng, Hou, Cuiping, Kim, Cecilia E, Hakonarson, Hakon, Levine, Michael A
Published in The journal of clinical endocrinology and metabolism (01.05.2016)
Published in The journal of clinical endocrinology and metabolism (01.05.2016)
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Large Sample Size, Wide Variant Spectrum, and Advanced Machine-Learning Technique Boost Risk Prediction for Inflammatory Bowel Disease
Wei, Zhi, Wang, Wei, Bradfield, Jonathan, Li, Jin, Cardinale, Christopher, Frackelton, Edward, Kim, Cecilia, Mentch, Frank, Van Steen, Kristel, Visscher, Peter M., Baldassano, Robert N., Hakonarson, Hakon
Published in American journal of human genetics (06.06.2013)
Published in American journal of human genetics (06.06.2013)
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Web Resource
Identification of ALK as a major familial neuroblastoma predisposition gene
MOSSK, Yaël P, LAUDENSLAGER, Marci, LAUREYS, Genevieve, SPELEMAN, Frank, KIM, Cecilia, CUIPING HOU, HAKONARSON, Hakon, TORKAMANI, Ali, SCHORK, Nicholas J, BRODEUR, Garrett M, TONINI, Gian P, RAPPAPORT, Eric, LONGO, Luca, DEVOTO, Marcella, MARIS, John M, COLE, Kristina A, WOOD, Andrew, ATTIYEH, Edward F, LAQUAGLIA, Michael J, SENNETT, Rachel, LYNCH, Jill E, PERRI, Patrizia
Published in Nature (London) (16.10.2008)
Published in Nature (London) (16.10.2008)
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Journal Article
Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival
Kim, Daniel Seung, BS, Kim, Jerry H., MD, MPH, Burt, Amber A., MS, Crosslin, David R., PhD, Burnham, Nancy, MSN, Kim, Cecilia E., BS, McDonald-McGinn, Donna M., MS, Zackai, Elaine H., MD, Nicolson, Susan C., MD, Spray, Thomas L., MD, Stanaway, Ian B., BS, Nickerson, Deborah A., PhD, Heagerty, Patrick J., PhD, Hakonarson, Hakon, MD, PhD, Gaynor, J. William, MD, Jarvik, Gail P., MD, PhD
Published in The Journal of thoracic and cardiovascular surgery (01.04.2016)
Published in The Journal of thoracic and cardiovascular surgery (01.04.2016)
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Journal Article
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder
ELIA, Josephine, GLESSNER, Joseph T, LYON, Gholson J, FLORY, James H, BRADFIELD, Jonathan P, IMIELINSKI, Marcin, CUIPING HOU, FRACKELTON, Edward C, CHIAVACCI, Rosetta M, SAKURAI, Takeshi, RABIN, Cara, MIDDLETON, Frank A, KAI WANG, THOMAS, Kelly A, GARRIS, Maria, MENTCH, Frank, FREITAG, Christine M, STEINHAUSEN, Hans-Christoph, TODOROV, Alexandre A, REIF, Andreas, ROTHENBERGER, Aribert, FRANKE, Barbara, MICK, Eric O, TAKAHASHI, Nagahide, ROEYERS, Herbert, BUITELAAR, Jan, LESCH, Klaus-Peter, BANASCHEWSKI, Tobias, EBSTEIN, Richard P, MULAS, Fernando, OADES, Robert D, SERGEANT, Joseph, SONUGA-BARKE, Edmund, RENNER, Tobias J, SHTIR, Corina J, ROMANOS, Marcel, ROMANOS, Jasmin, WARNKE, Andreas, WALITZA, Susanne, MEYER, Jobst, PALMASON, Haukur, SEITZ, Christiane, LOO, Sandra K, SMALLEY, Susan L, BIEDERMAN, Joseph, HADLEY, Dexter, KENT, Lindsey, ASHERSON, Philip, ANNEY, Richard J. L, WILLIAM GAYNOR, J, SHAW, Philip, DEVOTO, Marcella, WHITE, Peter S, GRANT, Struan F. A, BUXBAUM, Joseph D, RAPOPORT, Judith L, SLEIMAN, Patrick M. A, HAITAO ZHANG, KIM, Cecilia E, ROBISON, Reid
Published in Nature genetics (01.01.2012)
Published in Nature genetics (01.01.2012)
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Journal Article
A Genome-Wide Association Study Identifies a Locus for Nonsyndromic Cleft Lip with or without Cleft Palate on 8q24
Grant, Struan F.A., PhD, Wang, Kai, PhD, Zhang, Haitao, PhD, Glaberson, Wendy, BA, Annaiah, Kiran, MSc, Kim, Cecilia E., BA, Bradfield, Jonathan P., BS, Glessner, Joseph T., MSc, Thomas, Kelly A., BA, Garris, Maria, BA, Frackelton, Edward C., BA, Otieno, F. George, MSc, Chiavacci, Rosetta M., BSN, Nah, Hyun-Duck, PhD, Kirschner, Richard E., MD, Hakonarson, Hakon, MD, PhD
Published in The Journal of pediatrics (01.12.2009)
Published in The Journal of pediatrics (01.12.2009)
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Journal Article
Association analysis of the FTO gene with obesity in children of Caucasian and African ancestry reveals a common tagging SNP
Grant, Struan F A, Li, Mingyao, Bradfield, Jonathan P, Kim, Cecilia E, Annaiah, Kiran, Santa, Erin, Glessner, Joseph T, Casalunovo, Tracy, Frackelton, Edward C, Otieno, F George, Shaner, Julie L, Smith, Ryan M, Imielinski, Marcin, Eckert, Andrew W, Chiavacci, Rosetta M, Berkowitz, Robert I, Hakonarson, Hakon
Published in PloS one (12.03.2008)
Published in PloS one (12.03.2008)
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Journal Article
genome-wide association study identifies KIAA0350 as a type 1 diabetes gene
HAKONARSON, Hakon, GRANT, Struan F. A, LAWSON, Margaret L, ROBINSON, Luke J, SKRABAN, Robert, YANG LU, CHIAVACCI, Rosetta M, STANLEY, Charles A, KIRSCH, Susan E, RAPPAPORT, Eric F, ORANGE, Jordan S, MONOS, Dimitri S, BRADFIELD, Jonathan P, DEVOTO, Marcella, QU, Hui-Qi, POLYCHRONAKOS, Constantin, MARCHAND, Luc, KIM, Cecilia E, GLESSNER, Joseph T, GRABS, Rosemarie, CASALUNOVO, Tracy, TABACK, Shayne P, FRACKELTON, Edward C
Published in Nature (02.08.2007)
Published in Nature (02.08.2007)
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Journal Article
Strong synaptic transmission impact by copy number variations in schizophrenia
Glessner, Joseph T., Reilly, Muredach P., Kim, Cecilia E., Takahashi, Nagahide, Albano, Anthony, Hou, Cuiping, Bradfield, Jonathan P., Zhang, Haitao, Sleiman, Patrick M. A., Flory, James H., Imielinski, Marcin, Frackelton, Edward C., Chiavacci, Rosetta, Thomas, Kelly A., Garris, Maria, Otieno, Frederick G., Davidson, Michael, Weiser, Mark, Reichenberg, Abraham, Davis, Kenneth L., Friedman, Joseph I., Cappola, Thomas P., Margulies, Kenneth B., Rader, Daniel J., Grant, Struan F. A., Buxbaum, Joseph D., Gur, Raquel E., Hakonarson, Hakon, Lupski, James R.
Published in Proceedings of the National Academy of Sciences - PNAS (08.06.2010)
Published in Proceedings of the National Academy of Sciences - PNAS (08.06.2010)
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Journal Article
Duplication of the SLIT3 locus on 5q35.1 predisposes to major depressive disorder
Glessner, Joseph T, Wang, Kai, Sleiman, Patrick M A, Zhang, Haitao, Kim, Cecilia E, Flory, James H, Bradfield, Jonathan P, Imielinski, Marcin, Frackelton, Edward C, Qiu, Haijun, Mentch, Frank, Grant, Struan F A, Hakonarson, Hakon
Published in PloS one (01.12.2010)
Published in PloS one (01.12.2010)
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Journal Article
Common variation in ISL1 confers genetic susceptibility for human congenital heart disease
Stevens, Kristen N, Hakonarson, Hakon, Kim, Cecilia E, Doevendans, Pieter A, Koeleman, Bobby P C, Mital, Seema, Raue, Jennifer, Glessner, Joseph T, Coles, John G, Moreno, Victor, Granger, Anne, Gruber, Stephen B, Gruber, Peter J
Published in PloS one (26.05.2010)
Published in PloS one (26.05.2010)
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Journal Article
The Role of Obesity-associated Loci Identified in Genome-wide Association Studies in the Determination of Pediatric BMI
Zhao, Jianhua, Bradfield, Jonathan P., Li, Mingyao, Wang, Kai, Zhang, Haitao, Kim, Cecilia E., Annaiah, Kiran, Glessner, Joseph T., Thomas, Kelly, Garris, Maria, Frackelton, Edward C., Otieno, F. George, Shaner, Julie L., Smith, Ryan M., Chiavacci, Rosetta M., Berkowitz, Robert I., Hakonarson, Hakon, Grant, Struan F.A.
Published in Obesity (Silver Spring, Md.) (01.12.2009)
Published in Obesity (Silver Spring, Md.) (01.12.2009)
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Journal Article
Genome‐wide single nucleotide polymorphism‐based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa
Vahidnezhad, Hassan, Youssefian, Leila, Saeidian, Amir Hossein, Zeinali, Sirous, Touati, Andrew, Abiri, Maryam, Sotoudeh, Soheila, Norouz‐zadeh, Sara, Amirinezhad, Niloufar, Mozafari, Nikoo, Daneshpazhooh, Maryam, Mahmoudi, Hamidreza, Hamid, Mohammad, Bradfield, Jonathan P., Kim, Cecilia E., Hakonarson, Hakon, Uitto, Jouni
Published in Experimental dermatology (01.10.2019)
Published in Experimental dermatology (01.10.2019)
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Journal Article
Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism
Li, Dong, Streeten, Elizabeth A., Chan, Alice, Lwin, Wint, Tian, Lifeng, Pellegrino da Silva, Renata, Kim, Cecilia E., Anderson, Mark S., Hakonarson, Hakon, Levine, Michael A.
Published in The journal of clinical endocrinology and metabolism (01.05.2017)
Published in The journal of clinical endocrinology and metabolism (01.05.2017)
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