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)

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)

Comorbidity of Physical and Mental Disorders in the Neurodevelopmental Genomics Cohort Study

Por Merikangas, Kathleen R., Calkins, Monica E., Burstein, Marcy, He, Jian-Ping, Chiavacci, Rosetta, Lateef, Tarannum, Ruparel, Kosha, Gur, Ruben C., Lehner, Thomas, Hakonarson, Hakon, Gur, Raquel E.
Publicado no Pediatrics (2015)

Body Mass Index (BMI) Trajectories in Infancy Differ by Population Ancestry and May Presage Disparities in Early Childhood Obesity

Por Roy, Sani M., Chesi, Alessandra, Mentch, Frank, Xiao, Rui, Chiavacci, Rosetta, Mitchell, Jonathan A., Kelly, Andrea, Hakonarson, Hakon, Grant, Struan F.A., Zemel, Babette S., McCormack, Shana E.
Publicado no J Clin Endocrinol Metab (2015)

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

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)

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

Genome-wide association identifies diverse causes of common variable immunodeficiency

Por Orange, Jordan S., Glessner, Joseph T., Resnick, Elena, Sullivan, Kathleen E., Lucas, Mary, Ferry, Berne, Kim, Cecilia E., Hou, Cuiping, Wang, Fengxiang, Chiavacci, Rosetta, Kugathasan, Subra, Sleasman, John W., Baldassano, Robert, Perez, Elena E., Chapel, Helen, Cunningham-Rundles, Charlotte, Hakonarson, Hakon
Publicado em 2011

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

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 em 2009

The psychosis spectrum in a young U.S. community sample: findings from the Philadelphia Neurodevelopmental Cohort

Por Calkins, Monica E, Moore, Tyler M, Merikangas, Kathleen R, Burstein, Marcy, Satterthwaite, Theodore D, Bilker, Warren B, Ruparel, Kosha, Chiavacci, Rosetta, Wolf, Daniel H, Mentch, Frank, Qiu, Haijun, Connolly, John J, Sleiman, Patrick A, Hakonarson, Hakon, Gur, Ruben C, Gur, Raquel E
Publicado no World Psychiatry (2014)

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 em 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 em 2010

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)

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 em 2009

The role of obesity-associated loci identified in genome wide association studies in the determination of pediatric BMI

Por Zhao, Jianhua, Bradfield, Jonathan P., Li, Mingyao, Wang, Kai, Zhang, Haitao, Kim, Cecilia E., Annaiah, Kiran, Glessner, Joseph T., Thomas, Kelly, Garris, Maria, Frackelton, Edward C., Otieno, F. George, Shaner, Julie L., Smith, Ryan M., Chiavacci, Rosetta M., Berkowitz, Robert I., Hakonarson, Hakon, Grant, Struan F.A.
Publicado em 2009

Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions

Por Barthold, Julia Spencer, Wang, Yanping, Kolon, Thomas F., Kollin, Claude, Nordenskjöld, Agneta, Olivant Fisher, Alicia, Figueroa, T. Ernesto, BaniHani, Ahmad H., Hagerty, Jennifer A., Gonzaléz, Ricardo, Noh, Paul H., Chiavacci, Rosetta M., Harden, Kisha R., Abrams, Debra J., Kim, Cecilia E., Li, Jin, Hakonarson, Hakon, Devoto, Marcella
Publicado no Hum Reprod (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)