Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism

Por Li, Dong, Tian, Lifeng, Hou, Cuiping, Kim, Cecilia E., Hakonarson, Hakon, Levine, Michael A.
Publicado no J Clin Endocrinol Metab (2016)

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 em 2008

Association of RASGRP1 with type 1 diabetes is revealed by combined follow-up of two genome-wide studies

Por Qu, Hui-Qi, Grant, Struan F.A., Bradfield, Jonathan P., Kim, Cecilia, Frackelton, Edward, Hakonarson, Hakon, Polychronakos, Constantin
Publicado em 2009

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

Por Desai, Akshatha, Connolly, John J., March, Michael, Hou, Cuiping, Chiavacci, Rosetta, Kim, Cecilia, Lyon, Gholson, Hadley, Dexter, Hakonarson, Hakon
Publicado no BMC Musculoskelet Disord (2016)

Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations

Por Mitchell, Laura E., Agopian, A.J., Bhalla, Angela, Glessner, Joseph T., Kim, Cecilia E., Swartz, Michael D., Hakonarson, Hakon, Goldmuntz, Elizabeth
Publicado no Hum Mol Genet (2015)

Methylation Microarray Studies Highlight PDGFA Expression as a Factor in Biliary Atresia

Por Cofer, Zenobia C., Cui, Shuang, EauClaire, Steven F., Kim, Cecilia, Tobias, John W., Hakonarson, Hakon, Loomes, Kathleen M., Matthews, Randolph P.
Publicado no PLoS One (2016)

Whole-genome sequencing in an autism multiplex family

Por Shi, Lingling, Zhang, Xu, Golhar, Ryan, Otieno, Frederick G, He, Mingze, Hou, Cuiping, Kim, Cecilia, Keating, Brendan, Lyon, Gholson J, Wang, Kai, Hakonarson, Hakon
Publicado em 2013

Genome-Wide Association Study of Serum Minerals Levels in Children of Different Ethnic Background

Por Chang, Xiao, Li, Jin, Guo, Yiran, Wei, Zhi, Mentch, Frank D., Hou, Cuiping, Zhao, Yan, Qiu, Haijun, Kim, Cecilia, Sleiman, Patrick M. A., Hakonarson, Hakon
Publicado no PLoS One (2015)

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 em 2013

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

Por 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
Publicado no Case Rep Genet (2016)

Large Sample Size, Wide Variant Spectrum, and Advanced Machine-Learning Technique Boost Risk Prediction for Inflammatory Bowel Disease

Por 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
Publicado em 2013

Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy

Por Attiyeh, Edward F., Diskin, Sharon J., Attiyeh, Marc A., Mossé, Yaël P., Hou, Cuiping, Jackson, Eric M., Kim, Cecilia, Glessner, Joseph, Hakonarson, Hakon, Biegel, Jaclyn A., Maris, John M.
Publicado em 2009

Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy

Por Attiyeh, Edward F., Diskin, Sharon J., Attiyeh, Marc A., Mossé, Yaël P., Hou, Cuiping, Jackson, Eric M., Kim, Cecilia, Glessner, Joseph, Hakonarson, Hakon, Biegel, Jaclyn A., Maris, John M.
Publicado em 2009

Genome Wide Association (GWA) Predictors Of Anti-TNFα Therapeutic Responsiveness In Pediatric Inflammatory Bowel Disease (IBD)

Por Dubinsky, Marla C, Mei, Ling, Friedman, Madison, Dhere, Tanvi, Haritunians, Talin, Hakonarson, Hakon, Kim, Cecilia, Glessner, Joseph, Targan, Stephan R, McGovern, Dermot P, Taylor, Kent D, Rotter, Jerome I
Publicado em 2010

The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism

Por Hadley, Dexter, Wu, Zhi-liang, Kao, Charlly, Kini, Akshata, Mohamed-Hadley, Alisha, Thomas, Kelly, Vazquez, Lyam, Qiu, Haijun, Mentch, Frank, Pellegrino, Renata, Kim, Cecilia, Connolly, John, Glessner, Joseph, Hakonarson, Hakon
Publicado em 2014

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

Por 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
Publicado em 2013

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 em 2009

Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children

Por Chang, Xiao, Glessner, Joseph, Tin, Adrienne, Li, Jin, Guo, Yiran, Wei, Zhi, Liu, Yichuan, Mentch, Frank D., Hou, Cuiping, Zhao, Yan, Wang, Tiancheng, Qiu, Haijun, Kim, Cecilia, Sleiman, Patrick M. A., Hakonarson, Hakon
Publicado no Sci Rep (2015)

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

Por 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
Publicado no BMC Musculoskelet Disord (2016)

Common Variation in ISL1 Confers Genetic Susceptibility for Human Congenital Heart Disease

Por 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.
Publicado em 2010