Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts

por Sleiman, Patrick, Bradfield, Jonathan, Mentch, Frank, Almoguera, Berta, Connolly, John, Hakonarson, Hakon
Publicado 2014

Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes

por Almoguera, Berta, Vazquez, Lyam, Connolly, John J., Bradfield, Jonathan, Sleiman, Patrick, Keating, Brendan, Hakonarson, Hakon
Publicado 2014

Genetics of early-life head circumference and genetic correlations with neurological, psychiatric and cognitive outcomes

por Vogelezang, Suzanne, Bradfield, Jonathan P., Grant, Struan F. A., Felix, Janine F., Jaddoe, Vincent W. V.
Publicado 2022

Genome-wide association study of the age of onset of type 1 diabetes reveals HTATIP2 as a novel T cell regulator

por Cardinale, Christopher J., Chang, Xiao, Wei, Zhi, Qu, Hui-Qi, Bradfield, Jonathan P., Polychronakos, Constantin, Hakonarson, Hakon
Publicado 2023

Association Analysis of Type 2 Diabetes Loci in Type 1 Diabetes

por Qu, Hui-Qi, Grant, Struan F.A., Bradfield, Jonathan P., Kim, Cecilia, Frackelton, Edward, Hakonarson, Hakon, Polychronakos, Constantin
Publicado 2008

Biflavonoid-Induced Disruption of Hydrogen Bonds Leads to Amyloid-β Disaggregation

por Windsor, Peter K., Plassmeyer, Stephen P., Mattock, Dominic S., Bradfield, Jonathan C., Choi, Erika Y., Miller, Bill R., Han, Byung Hee
Publicado 2021

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

por Wang, Kai, Kim, Cecilia, Bradfield, Jonathan, Guo, Yunfei, Toskala, Elina, Otieno, Frederick G, Hou, Cuiping, Thomas, Kelly, Cardinale, Christopher, Lyon, Gholson J, Golhar, Ryan, Hakonarson, Hakon
Publicado 2013

Insights into non-autoimmune type 1 diabetes with 13 novel loci in low polygenic risk score patients

por Qu, Jingchun, Qu, Hui-Qi, Bradfield, Jonathan P., Glessner, Joseph T., Chang, Xiao, Tian, Lifeng, March, Michael, Connolly, John J., Roizen, Jeffrey D., Sleiman, Patrick M. A., Hakonarson, Hakon
Publicado 2021

Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci

por Qu, Hui-Qi, Qu, Jingchun, Bradfield, Jonathan, Marchand, Luc, Glessner, Joseph, Chang, Xiao, March, Michael, Li, Jin, Connolly, John J., Roizen, Jeffrey D., Sleiman, Patrick, Polychronakos, Constantin, Hakonarson, Hakon
Publicado 2021

From Disease Association to Risk Assessment: An Optimistic View from Genome-Wide Association Studies on Type 1 Diabetes

por Wei, Zhi, Wang, Kai, Qu, Hui-Qi, Zhang, Haitao, Bradfield, Jonathan, Kim, Cecilia, Frackleton, Edward, Hou, Cuiping, Glessner, Joseph T., Chiavacci, Rosetta, Stanley, Charles, Monos, Dimitri, Grant, Struan F. A., Polychronakos, Constantin, Hakonarson, Hakon
Publicado 2009

Duplication of the SLIT3 Locus on 5q35.1 Predisposes to Major Depressive Disorder

por 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
Publicado 2010

Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes

por Forgetta, Vincenzo, Manousaki, Despoina, Istomine, Roman, Ross, Stephanie, Tessier, Marie-Catherine, Marchand, Luc, Li, Min, Qu, Hui-Qi, Bradfield, Jonathan P., Grant, Struan F.A., Hakonarson, Hakon, Paterson, Andrew D., Piccirillo, Ciriaco, Polychronakos, Constantin, Richards, J. Brent
Publicado 2020

Genetic Variation in PADI6-PADI4 on 1p36.13 Is Associated with Common Forms of Human Generalized Epilepsy

por Buono, Russell J., Bradfield, Jonathan P., Wei, Zhi, Sperling, Michael R., Dlugos, Dennis J., Privitera, Michael D., French, Jacqueline A., Lo, Warren, Cossette, Patrick, Schachter, Steven C., Basehore, Heather, Lohoff, Falk W., Grant, Struan F. A., Ferraro, Thomas N., Hakonarson, Hakon
Publicado 2021

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

por 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.
Publicado 2013

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

por 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
Publicado 2009

Association Analysis of the FTO Gene with Obesity in Children of Caucasian and African Ancestry Reveals a Common Tagging SNP

por 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
Publicado 2008

Examination of All Type 2 Diabetes GWAS Loci Reveals HHEX-IDE as a Locus Influencing Pediatric BMI

por Zhao, Jianhua, Bradfield, Jonathan P., Zhang, Haitao, Annaiah, Kiran, Wang, Kai, Kim, Cecilia E., Glessner, Joseph T., Frackelton, Edward C., Otieno, F. George, Doran, James, Thomas, Kelly A., Garris, Maria, Hou, Cuiping, Chiavacci, Rosetta M., Li, Mingyao, Berkowitz, Robert I., Hakonarson, Hakon, Grant, Struan F.A.
Publicado 2010

Relative contribution of type 1 and type 2 diabetes loci to the genetic etiology of adult-onset, non-insulin-requiring autoimmune diabetes

por Mishra, Rajashree, Chesi, Alessandra, Cousminer, Diana L., Hawa, Mohammad I., Bradfield, Jonathan P., Hodge, Kenyaita M., Guy, Vanessa C., Hakonarson, Hakon, Mauricio, Didac, Schloot, Nanette C., Yderstræde, Knud B., Voight, Benjamin F., Schwartz, Stanley, Boehm, Bernhard O., Leslie, Richard David, Grant, Struan F. A.
Publicado 2017

Examination of Type 2 Diabetes Loci Implicates CDKAL1 as a Birth Weight Gene

por Zhao, Jianhua, Li, Mingyao, Bradfield, Jonathan P., Wang, Kai, Zhang, Haitao, Sleiman, Patrick, Kim, Cecilia E., Annaiah, Kiran, Glaberson, Wendy, Glessner, Joseph T., Otieno, F. George, Thomas, Kelly A., Garris, Maria, Hou, Cuiping, Frackelton, Edward C., Chiavacci, Rosetta M., Berkowitz, Robert I., Hakonarson, Hakon, Grant, Struan F.A.
Publicado 2009

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

por 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
Publicado 2011