Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts

Por Connolly, John J., Glessner, Joseph T., Almoguera, Berta, Crosslin, David R., Jarvik, Gail P., Sleiman, Patrick M., Hakonarson, Hakon
Publicado em 2014

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)

Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis

Por Yang, Yi, Zhang, Lei, Lynch, David R., Lukas, Thomas, Ahmeti, Kreshnik, Sleiman, Patrick M.A., Ryan, Eanna, Schadt, Kimberly A., Newman, Jordan H., Deng, Han-Xiang, Siddique, Nailah, Siddique, Teepu
Publicado no Neurol Genet (2016)

Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson’s disease

Por da Costa, Cristine Alves, Sunyach, Claire, Giaime, Emilie, West, Andrew, Corti, Olga, Brice, Alexis, Safe, Stephen, Abou-Sleiman, Patrick M., Wood, Nicholas W., Takahashi, Hitoshi, Goldberg, Mathew S., Shen, Jie, Checler, Frédéric
Publicado em 2009

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

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)

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 em 2010

The genetic architecture of pediatric cognitive abilities in the Philadelphia Neurodevelopmental Cohort

Por Robinson, Elise B., Kirby, Andrew, Ruparel, Kosha, Yang, Jian, McGrath, Lauren, Anttila, Verneri, Neale, Benjamin M., Merikangas, Kathleen, Lehner, Thomas, Sleiman, Patrick M.A., Daly, Mark J., Gur, Ruben, Gur, Raquel, Hakonarson, Hakon
Publicado no Mol Psychiatry (2014)

Age group and sex differences in performance on a computerized neurocognitive battery in children age 8–21

Por Gur, Ruben C., Richard, Jan, Calkins, Monica E., Chiavacci, Rosetta, Hansen, John A., Bilker, Warren B., Loughead, James, Connolly, John J., Qiu, Haijun, Mentch, Frank D., Abou-Sleiman, Patrick M., Hakonarson, Hakon, Gur, Raquel E.
Publicado em 2012

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 em 2013

GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children

Por Li, Jin, Glessner, Joseph T., Zhang, Haitao, Hou, Cuiping, Wei, Zhi, Bradfield, Jonathan P., Mentch, Frank D., Guo, Yiran, Kim, Cecilia, Xia, Qianghua, Chiavacci, Rosetta M., Thomas, Kelly A., Qiu, Haijun, Grant, Struan F.A., Furth, Susan L., Hakonarson, Hakon, Sleiman, Patrick M.A.
Publicado em 2013

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 em 2013

Thymic stromal lymphopoietin-mediated extramedullary hematopoiesis promotes allergic inflammation

Por Siracusa, Mark C., Saenz, Steven A., Tait Wojno, Elia D., Kim, Brian S., Osborne, Lisa C., Ziegler, Cary G., Benitez, Alain J., Ruymann, Kathryn R., Farber, Donna L., Sleiman, Patrick M., Hakonarson, Hakon, Cianferoni, Antonella, Wang, Mei-Lun, Spergel, Jonathan M., Comeau, Michael R., Artis, David
Publicado em 2013

The Philadelphia Neurodevelopmental Cohort: A Publicly Available Resource for the Study of Normal and Abnormal Brain Development in Youth

Por Satterthwaite, Theodore D., Connolly, John J., Ruparel, Kosha, Calkins, Monica E., Jackson, Chad, Elliott, Mark A., Roalf, David R., Hopson, Ryan, Prabhakaran, Karthik, Behr, Meckenzie, Qiu, Haijun, Mentch, Frank D., Chiavacci, Rosetta, Sleiman, Patrick M. A., Gur, Ruben C., Hakonarson, Hakon, Gur, Raquel E.
Publicado no Neuroimage (2015)

The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative

Por Calkins, Monica E., Merikangas, Kathleen R., Moore, Tyler M., Burstein, Marcy, Behr, Meckenzie A, Satterthwaite, Theodore D., Ruparel, Kosha, Wolf, Daniel H., Roalf, David R., Mentch, Frank D., Qiu, Haijun, Chiavacci, Rosetta, Connolly, John J., Sleiman, Patrick M.A., Gur, Ruben C., Hakonarson, Hakon, Gur, Raquel E.
Publicado no J Child Psychol Psychiatry (2015)

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 em 2011

The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature

Por Zhao, Jianhua, Li, Mingyao, Bradfield, Jonathan P, Zhang, Haitao, Mentch, Frank D, Wang, Kai, Sleiman, Patrick M, Kim, Cecilia E, Glessner, Joseph T, Hou, Cuiping, Keating, Brendan J, Thomas, Kelly A, Garris, Maria L, Deliard, Sandra, Frackelton, Edward C, Otieno, F George, Chiavacci, Rosetta M, Berkowitz, Robert I, Hakonarson, Hakon, Grant, Struan FA
Publicado em 2010

A Genome-wide Study Reveals Copy Number Variants Exclusive to Childhood Obesity Cases

Por Glessner, Joseph T., Bradfield, Jonathan P., Wang, Kai, Takahashi, Nagahide, Zhang, Haitao, Sleiman, Patrick M., Mentch, Frank D., Kim, Cecilia E., Hou, Cuiping, Thomas, Kelly A., Garris, Maria L., Deliard, Sandra, Frackelton, Edward C., Otieno, F. George, Zhao, Jianhua, Chiavacci, Rosetta M., Li, Mingyao, Buxbaum, Joseph D., Berkowitz, Robert I., Hakonarson, Hakon, Grant, Struan F.A.
Publicado em 2010

Identification of Four Novel Loci in Asthma in European American and African American Populations

Por Almoguera, Berta, Vazquez, Lyam, Mentch, Frank, Connolly, John, Pacheco, Jennifer A., Sundaresan, Agnes S., Peissig, Peggy L., Linneman, James G., McCarty, Catherine A., Crosslin, David, Carrell, David S., Lingren, Todd, Namjou-Khales, Bahram, Harley, John B., Larson, Eric, Jarvik, Gail P., Brilliant, Murray, Williams, Marc S., Kullo, Iftikhar J., Hysinger, Erik B., Sleiman, Patrick M. A., Hakonarson, Hakon
Publicado no Am J Respir Crit Care Med (2017)