Genetic Underpinnings of Obstructive Sleep Apnea: Are We Making Progress?

Por Sleiman, Patrick, Hakonarson, Hakon
Publicado em 2011

Genetic polymorphisms and associated susceptibility to asthma

Por March, Michael E, Sleiman, Patrick MA, Hakonarson, Hakon
Publicado em 2013

Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts

Por Sleiman, Patrick, Bradfield, Jonathan, Mentch, Frank, Almoguera, Berta, Connolly, John, Hakonarson, Hakon
Publicado em 2014

Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes

Por Almoguera, Berta, Vazquez, Lyam, Connolly, John J., Bradfield, Jonathan, Sleiman, Patrick, Keating, Brendan, Hakonarson, Hakon
Publicado em 2014

GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus

Por Sleiman, Patrick, Wang, Dai, Glessner, Joseph, Hadley, Dexter, Gur, Raquel E., Cohen, Nadine, Li, Qingqin, Hakonarson, Hakon
Publicado em 2013

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

GWAS identifies four novel eosinophilic esophagitis loci

Por Sleiman, Patrick MA, Wang, Mei-Lun, Cianferoni, Antonella, Aceves, Seema, Gonsalves, Nirmala, Nadeau, Kari, Bredenoord, Albert J., Furuta, Glenn T., Spergel, Jonathan M., Hakonarson, Hakon
Publicado no Nat Commun (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

Mitochondrial function and morphology are impaired in parkin mutant fibroblasts

Por Mortiboys, Heather, Thomas, Kelly Jean, Koopman, Werner J.H., Klaffke, Stefanie, Abou-Sleiman, Patrick, Olpin, Simon, Wood, Nicholas W, Willems, Peter H.G.M., Smeitink, Jan A.M., Cookson, Mark R, Bandmann, Oliver
Publicado em 2008

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

Novel Rab27a mutation binds melanophilin, but not Munc13-4 causing immunodeficiency without albinism

Por Netter, Petra, Chan, Sanny K., Banerjee, Pinaki P., Monaco-Shawver, Linda, Noroski, Lenora M., Hanson, Imelda C., Forbes, Lisa R., Mace, Emily M., Chinen, Javier, Gaspar, H. Bobby, Sleiman, Patrick, Hakonarson, Hakon, Klein, Christoph, Ehlayel, Mohammad S., Orange, Jordan S.
Publicado no J Allergy Clin Immunol (2016)

Neuroimaging of the Philadelphia Neurodevelopmental Cohort

Por Satterthwaite, Theodore D., Elliott, Mark A., Ruparel, Kosha, Loughead, James, Prabhakaran, Karthik, Calkins, Monica E., Hopson, Ryan, Jackson, Chad, Keefe, Jack, Riley, Marisa, Mensh, Frank D., Sleiman, Patrick, Verma, Ragini, Davatzikos, Christos, Hakonarson, Hakon, Gur, Ruben C., Gur, Raquel E.
Publicado em 2013

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