Mitochondrial genome sequence analysis: A custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy

por Xie, Hongbo M, Perin, Juan C, Schurr, Theodore G, Dulik, Matthew C, Zhadanov, Sergey I, Baur, Joseph A, King, Michael P, Place, Emily, Clarke, Colleen, Grauer, Michael, Schug, Jonathan, Santani, Avni, Albano, Anthony, Kim, Cecilia, Procaccio, Vincent, Hakonarson, Hakon, Gai, Xiaowu, Falk, Marni J
Publicado 2011

An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males

por Chung, Ren-Hua, Ma, Deqiong, Wang, Kai, Hedges, Dale J, Jaworski, James M, Gilbert, John R, Cuccaro, Michael L, Wright, Harry H, Abramson, Ruth K, Konidari, Ioanna, Whitehead, Patrice L, Schellenberg, Gerard D, Hakonarson, Hakon, Haines, Jonathan L, Pericak-Vance, Margaret A, Martin, Eden R
Publicado 2011

Copy Number Variations in Alternative Splicing Gene Networks Impact Lifespan

por Glessner, Joseph T., Smith, Albert Vernon, Panossian, Saarene, Kim, Cecilia E., Takahashi, Nagahide, Thomas, Kelly A., Wang, Fengxiang, Seidler, Kallyn, Harris, Tamara B., Launer, Lenore J., Keating, Brendan, Connolly, John, Sleiman, Patrick M. A., Buxbaum, Joseph D., Grant, Struan F. A., Gudnason, Vilmundur, Hakonarson, Hakon
Publicado 2013

APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study

por Ramanan, Vijay K., Risacher, Shannon L., Nho, Kwangsik, Kim, Sungeun, Swaminathan, Shanker, Shen, Li, Foroud, Tatiana M., Hakonarson, Hakon, Huentelman, Matthew J., Aisen, Paul S., Petersen, Ronald C., Green, Robert C., Jack, Clifford R., Koeppe, Robert A., Jagust, William J., Weiner, Michael W., Saykin, Andrew J.
Publicado 2013

Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

por Almoguera, Berta, He, Sijie, Corton, Marta, Fernandez-San Jose, Patricia, Blanco-Kelly, Fiona, López-Molina, Maria Isabel, García-Sandoval, Blanca, del Val, Javier, Guo, Yiran, Tian, Lifeng, Liu, Xuanzhu, Guan, Liping, Torres, Rosa J, Puig, Juan G, Hakonarson, Hakon, Xu, Xun, Keating, Brendan, Ayuso, Carmen
Publicado 2014

Connectome-Wide Network Analysis of Youth with Psychosis Spectrum Symptoms

por Satterthwaite, Theodore D., Vandekar, Simon N., Wolf, Daniel H., Bassett, Danielle S., Ruparel, Kosha, Shehzad, Zarrar, Craddock, R. Cameron, Shinohara, Russell T., Moore, Tyler M., Gennatas, Efstathios D., Jackson, Chad, Roalf, David R., Milham, Michael P., Calkins, Monica E., Hakonarson, Hakon, Gur, Ruben C., Gur, Raquel E.
Publicado 2015

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

Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs

por Williams, Janet L., Chung, Wendy K., Fedotov, Alex, Kiryluk, Krzysztof, Weng, Chunhua, Connolly, John J., Harr, Margaret, Hakonarson, Hakon, Leppig, Kathleen A., Larson, Eric B., Jarvik, Gail P., Veenstra, David L., Hoell, Christin, Smith, Maureen E., Holm, Ingrid A., Peterson, Josh F., Williams, Marc S.
Publicado 2018

TNFAIP8 controls murine intestinal stem cell homeostasis and regeneration by regulating microbiome-induced Akt signaling

por Goldsmith, Jason R., Spitofsky, Nina, Zamani, Ali, Hood, Ryan, Boggs, Amanda, Li, Xinyuan, Li, Mingyue, Reiner, Elizabeth, Ayyaz, Arshad, Etwebi, Zienab, Lu, Ling, Rivera Guzman, Javier, Bou-Dargham, Mayassa J., Cathoupolis, Terry, Hakonarson, Hakon, Sun, Honghong, Wrana, Jeffrey L., Gonzalez, Michael V., Chen, Youhai H.
Publicado 2020

A Mendelian Randomization Approach Using 3-HMG-Coenzyme-A Reductase Gene Variation to Evaluate the Association of Statin-Induced Low-Density Lipoprotein Cholesterol Lowering With N...

por Liu, Ge, Shi, Mingjian, Mosley, Jonathan D., Weng, Chunhua, Zhang, Yanfei, Lee, Ming Ta Michael, Jarvik, Gail P., Hakonarson, Hakon, Namjou-Khales, Bahram, Sleiman, Patrick, Luo, Yuan, Mentch, Frank, Denny, Joshua C., Linton, MacRae F., Wei, Wei-Qi, Stein, C. Michael, Feng, QiPing
Publicado 2021

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

Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria

por Sajan, Samin A., Fernandez, Liliana, Nieh, Sahar Esmaeeli, Rider, Eric, Bukshpun, Polina, Wakahiro, Mari, Christian, Susan L., Rivière, Jean-Baptiste, Sullivan, Christopher T., Sudi, Jyotsna, Herriges, Michael J., Paciorkowski, Alexander R., Barkovich, A. James, Glessner, Joseph T., Millen, Kathleen J., Hakonarson, Hakon, Dobyns, William B., Sherr, Elliott H.
Publicado 2013

Identification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control population

por Matsunami, Nori, Hensel, Charles H, Baird, Lisa, Stevens, Jeff, Otterud, Brith, Leppert, Tami, Varvil, Tena, Hadley, Dexter, Glessner, Joseph T, Pellegrino, Renata, Kim, Cecilia, Thomas, Kelly, Wang, Fengxiang, Otieno, Frederick G, Ho, Karen, Christensen, Gerald B, Li, Dongying, Prekeris, Rytis, Lambert, Christophe G, Hakonarson, Hakon, Leppert, Mark F
Publicado 2014

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned

por Almoguera, Berta, Li, Jiankang, Fernandez-San Jose, Patricia, Liu, Yichuan, March, Michael, Pellegrino, Renata, Golhar, Ryan, Corton, Marta, Blanco-Kelly, Fiona, López-Molina, Maria Isabel, García-Sandoval, Blanca, Guo, Yiran, Tian, Lifeng, Liu, Xuanzhu, Guan, Liping, Zhang, Jianguo, Keating, Brendan, Xu, Xun, Hakonarson, Hakon, Ayuso, Carmen
Publicado 2015

Src kinase as a mediator of convergent molecular abnormalities leading to NMDAR hypoactivity in schizophrenia

por Banerjee, Anamika, Wang, Hoau-Yan, Borgmann-Winter, Karin E., MacDonald, Mathew L., Kaprielian, Hagop, Stucky, Andres, Kvasic, Jessica, Egbujo, Chijioke, Ray, Rabindranath, Talbot, Konrad, Hemby, Scott E, Siegel, Steven J., Arnold, Steven E., Sleiman, Patrick, Chang, Xiao, Hakonarson, Hakon, Gur, Raquel E., Hahn, Chang-Gyu
Publicado 2014

Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk

por Pouget, Jennie G, Han, Buhm, Wu, Yang, Mignot, Emmanuel, Ollila, Hanna M, Barker, Jonathan, Spain, Sarah, Dand, Nick, Trembath, Richard, Martin, Javier, Mayes, Maureen D, Bossini-Castillo, Lara, López-Isac, Elena, Jin, Ying, Santorico, Stephanie A, Spritz, Richard A, Hakonarson, Hakon, Polychronakos, Constantin, Raychaudhuri, Soumya, Knight, Jo
Publicado 2019

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment

por García-García, Gema, Sanchez-Navarro, Iker, Aller, Elena, Jaijo, Teresa, Fuster-Garcia, Carla, Rodríguez-Munoz, Ana, Vallejo, Elena, Tellería, Juan José, Vázquez, Selma, Beltrán, Sergi, Derdak, Sophia, Zurita, Olga, Villaverde-Montero, Cristina, Avila-Fernández, Almudena, Corton, Marta, Blanco-Kelly, Fiona, Hakonarson, Hakon, Millán, José M., Ayuso, Carmen
Publicado 2020

Lossless integration of multiple electronic health records for identifying pleiotropy using summary statistics

por Li, Ruowang, Duan, Rui, Zhang, Xinyuan, Lumley, Thomas, Pendergrass, Sarah, Bauer, Christopher, Hakonarson, Hakon, Carrell, David S., Smoller, Jordan W., Wei, Wei-Qi, Carroll, Robert, Velez Edwards, Digna R., Wiesner, Georgia, Sleiman, Patrick, Denny, Josh C., Mosley, Jonathan D., Ritchie, Marylyn D., Chen, Yong, Moore, Jason H.
Publicado 2021

Trans‐ethnic polygenic risk scores for body mass index: An international hundred K+ cohorts consortium study

por Qu, Hui‐Qi, Connolly, John J, Kraft, Peter, Long, Jirong, Pereira, Alexandre, Flatley, Christopher, Turman, Constance, Prins, Bram, Mentch, Frank, Lotufo, Paulo A, Magnus, Per, Stampfer, Meir J, Tamimi, Rulla, Eliassen, A Heather, Zheng, Wei, Knudsen, Gun Peggy Stromstad, Helgeland, Oyvind, Butterworth, Adam S., Hakonarson, Hakon, Sleiman, Patrick M.
Publicado 2023

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