Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population

por Matsunami, Nori, Hadley, Dexter, Hensel, Charles H., Christensen, G. Bryce, Kim, Cecilia, Frackelton, Edward, Thomas, Kelly, da Silva, Renata Pellegrino, Stevens, Jeff, Baird, Lisa, Otterud, Brith, Ho, Karen, Varvil, Tena, Leppert, Tami, Lambert, Christophe G., Leppert, Mark, Hakonarson, Hakon
Publicado 2013

Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence

por St Pourcain, Beate, Haworth, C. M. A., Davis, O. S. P., Wang, Kai, Timpson, Nicholas J., Evans, David M., Kemp, John P., Ronald, Angelica, Price, Tom, Meaburn, Emma, Ring, Susan M., Golding, Jean, Hakonarson, Hakon, Plomin, R., Davey Smith, George
Publicado 2014

Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research

por Blumling, Amy A., Prows, Cynthia A., Harr, Margaret H., Chung, Wendy K., Clayton, Ellen Wright, Holm, Ingrid A., Wiesner, Georgia L., Connolly, John J., Harley, John B., Hakonarson, Hakon, McGowan, Michelle L., Miller, Erin M., Myers, Melanie F.
Publicado 2022

Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia

por Massey, Sean, Guo, Yiran, Riley, Lisa G., Van Bergen, Nicole J., Sandaradura, Sarah A., McCusker, Elizabeth, Tchan, Michel, Thauvin-Robinet, Christel, Thomas, Quentin, Moreau, Thibault, Davis, Mark, Smits, Daphne, Mancini, Grazia M.S., Hakonarson, Hakon, Cooper, Sandra, Christodoulou, John
Publicado 2023

Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing

por Guo, Yiran, Hwang, Liang-Dar, Li, Jiankang, Eades, Jason, Yu, Chung Wen, Mansfield, Corrine, Burdick-Will, Alexis, Chang, Xiao, Chen, Yulan, Duke, Fujiko F., Zhang, Jianguo, Fakharzadeh, Steven, Fennessey, Paul, Keating, Brendan J., Jiang, Hui, Hakonarson, Hakon, Reed, Danielle R., Preti, George
Publicado 2017

Effect of parental origin of damaging variants in pro-angiogenic genes on fetal growth in patients with congenital heart defects: Data and analyses

por Russell, Mark W., Moldenhauer, Julie S., Rychik, Jack, Burnham, Nancy B., Zullo, Erin, Parry, Samuel I., Simmons, Rebecca A., Elovitz, Michal A., Nicolson, Susan C., Linn, Rebecca L., Johnson, Mark P., Yu, Sunkyung, Sampson, Matthew G., Hakonarson, Hakon, Gaynor, J. William
Publicado 2019

Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome

por Wu, Yueheng, Xia, Yu, Li, Ping, Qu, Hui-Qi, Liu, Yichuan, Yang, Yongchao, Lin, Jijin, Zheng, Meng, Tian, Lifeng, Wu, Zhuanbin, Huang, Shufang, Qin, Xianyu, Zhou, Xianwu, Chen, Shaoxian, Liu, Yanying, Wang, Yonghua, Li, Xiaofeng, Zeng, Hanshi, Hakonarson, Hakon, Zhuang, Jian
Publicado 2020

Comprehensive analysis of gene expression in human retina and supporting tissues

por Li, Mingyao, Jia, Cheng, Kazmierkiewicz, Krista L., Bowman, Anita S., Tian, Lifeng, Liu, Yichuan, Gupta, Neel A., Gudiseva, Harini V., Yee, Stephanie S., Kim, Mijin, Dentchev, Tzvete, Kimble, James A., Parker, John S., Messinger, Jeffrey D., Hakonarson, Hakon, Curcio, Christine A., Stambolian, Dwight
Publicado 2014

Genetic predisposition to longer telomere length and risk of childhood, adolescent and adult-onset ependymoma

por Zhang, Chenan, Ostrom, Quinn T., Semmes, Eleanor C., Ramaswamy, Vijay, Hansen, Helen M., Morimoto, Libby, de Smith, Adam J., Pekmezci, Melike, Vaksman, Zalman, Hakonarson, Hakon, Diskin, Sharon J., Metayer, Catherine, Taylor, Michael D., Wiemels, Joseph L., Bondy, Melissa L., Walsh, Kyle M.
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

Common variation contributes to the genetic architecture of social communication traits

por St Pourcain, Beate, Whitehouse, Andrew J O, Ang, Wei Q, Warrington, Nicole M, Glessner, Joseph T, Wang, Kai, Timpson, Nicholas J, Evans, David M, Kemp, John P, Ring, Susan M, McArdle, Wendy L, Golding, Jean, Hakonarson, Hakon, Pennell, Craig E, Smith, George Davey
Publicado 2013

The Role of ARF6 in Biliary Atresia

por Ningappa, Mylarappa, So, Juhoon, Glessner, Joseph, Ashokkumar, Chethan, Ranganathan, Sarangarajan, Min, Jun, Higgs, Brandon W., Sun, Qing, Haberman, Kimberly, Schmitt, Lori, Vilarinho, Silvia, Mistry, Pramod K., Vockley, Gerard, Dhawan, Anil, Gittes, George K., Hakonarson, Hakon, Jaffe, Ronald, Subramaniam, Shankar, Shin, Donghun, Sindhi, Rakesh
Publicado 2015

Genome-wide association study identifies novel type II diabetes risk loci in Jordan subpopulations

por Dajani, Rana, Li, Jin, Wei, Zhi, March, Michael E., Xia, Qianghua, Khader, Yousef, Hakooz, Nancy, Fatahallah, Raja, El-Khateeb, Mohammed, Arafat, Ala, Saleh, Tareq, Dajani, Abdel Rahman, Al-Abbadi, Zaid, Abdul Qader, Mohamed, Shiyab, Abdel Halim, Bateiha, Anwar, Ajlouni, Kamel, Hakonarson, Hakon
Publicado 2017

Assessing non-Mendelian Inheritance in Inherited Axonopathies

por Bis-Brewer, Dana M., Gan-Or, Ziv, Sleiman, Patrick, Hakonarson, Hakon, Fazal, Sarah, Courel, Steve, Cintra, Vivian, Tao, Feifei, Estiar, Mehrdad A., Tarnopolsky, Mark, Boycott, Kym M., Yoon, Grace, Suchowersky, Oksana, Dupré, Nicolas, Cheng, Andrew, Lloyd, Thomas E., Rouleau, Guy, Schüle, Rebecca, Züchner, Stephan
Publicado 2020

Distinct diagnostic trajectories in NBAS‐associated acute liver failure highlights the need for timely functional studies

por Akesson, Lauren S., Rius, Rocio, Brown, Natasha J., Rosenbaum, Jeremy, Donoghue, Sarah, Stormon, Michael, Chai, Charmaine, Bordador, Esmeralda, Guo, Yiran, Hakonarson, Hakon, Compton, Alison G., Thorburn, David R., Amarasekera, Sumudu, Marum, Justine, Monaco, Alisha, Lee, Crystle, Chong, Belinda, Lunke, Sebastian, Stark, Zornitza, Christodoulou, John
Publicado 2022

Implementing Pharmacogenetic Testing in Gastrointestinal Cancers (IMPACT-GI): Study Protocol for a Pragmatic Implementation Trial for Establishing DPYD and UGT1A1 Screening to Guid...

por Varughese, Lisa A., Bhupathiraju, Madhuri, Hoffecker, Glenda, Terek, Shannon, Harr, Margaret, Hakonarson, Hakon, Cambareri, Christine, Marini, Jessica, Landgraf, Jeffrey, Chen, Jinbo, Kanter, Genevieve, Lau-Min, Kelsey S., Massa, Ryan C., Damjanov, Nevena, Reddy, Nandi J., Oyer, Randall A., Teitelbaum, Ursina R., Tuteja, Sony
Publicado 2022

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