Search Results - "Sleiman, Patrick M."

The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth by 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.

“…The Philadelphia Neurodevelopmental Cohort (PNC) is a large-scale study of child development that combines neuroimaging, diverse clinical and cognitive…”
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Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups by Dikilitas, Ozan, Schaid, Daniel J., Kosel, Matthew L., Carroll, Robert J., Chute, Christopher G., Denny, Joshua C., Fedotov, Alex, Feng, QiPing, Hakonarson, Hakon, Jarvik, Gail P., Lee, Ming Ta Michael, Pacheco, Jennifer A., Rowley, Robb, Sleiman, Patrick M., Stein, C. Michael, Sturm, Amy C., Wei, Wei-Qi, Wiesner, Georgia L., Williams, Marc S., Zhang, Yanfei, Manolio, Teri A., Kullo, Iftikhar J.

“…Because polygenic risk scores (PRSs) for coronary heart disease (CHD) are derived from mainly European ancestry (EA) cohorts, their validity in African…”
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Application of deep learning algorithm on whole genome sequencing data uncovers structural variants associated with multiple mental disorders in African American patients by Liu, Yichuan, Qu, Hui-Qi, Mentch, Frank D., Qu, Jingchun, Chang, Xiao, Nguyen, Kenny, Tian, Lifeng, Glessner, Joseph, Sleiman, Patrick M. A., Hakonarson, Hakon

“…Mental disorders present a global health concern, while the diagnosis of mental disorders can be challenging. The diagnosis is even harder for patients who…”
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Identification of Four Novel Loci in Asthma in European American and African American Populations by 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

“…Despite significant advances in knowledge of the genetic architecture of asthma, specific contributors to the variability in the burden between populations…”
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Identification of novel loci in obstructive sleep apnea in European American and African American children by Quinlan, Courtney M, Chang, Xiao, March, Michael, Mentch, Frank D, Qu, Hui-Qi, Liu, Yichuan, Glessner, Joseph, Sleiman, Patrick M A, Hakonarson, Hakon

“…Abstract Study Objectives To identify genetic susceptibility variants in pediatric obstructive sleep apnea in European American and African American children…”
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ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies by Glessner, Joseph T, Li, Jin, Liu, Yichuan, Khan, Munir, Chang, Xiao, Sleiman, Patrick M A, Hakonarson, Hakon

“…Improved copy number variation (CNV) detection remains an area of heavy emphasis for algorithm development; however, both CNV curation and disease association…”
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Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder by Elia, Josephine, Glessner, Joseph T, Wang, Kai, Takahashi, Nagahide, Shtir, Corina J, Hadley, Dexter, Sleiman, Patrick M A, Zhang, Haitao, Kim, Cecilia E, Robison, Reid, Lyon, Gholson J, Flory, James H, Bradfield, Jonathan P, Imielinski, Marcin, Hou, Cuiping, Frackelton, Edward C, Chiavacci, Rosetta M, Sakurai, Takeshi, Rabin, Cara, Middleton, Frank A, Thomas, Kelly A, Garris, Maria, Mentch, Frank, Freitag, Christine M, Steinhausen, Hans-Christoph, Todorov, Alexandre A, Reif, Andreas, Rothenberger, Aribert, Franke, Barbara, Mick, Eric O, Roeyers, Herbert, Buitelaar, Jan, Lesch, Klaus-Peter, Banaschewski, Tobias, Ebstein, Richard P, Mulas, Fernando, Oades, Robert D, Sergeant, Joseph, Sonuga-Barke, Edmund, Renner, Tobias J, Romanos, Marcel, Romanos, Jasmin, Warnke, Andreas, Walitza, Susanne, Meyer, Jobst, Pálmason, Haukur, Seitz, Christiane, Loo, Sandra K, Smalley, Susan L, Biederman, Joseph, Kent, Lindsey, Asherson, Philip, Anney, Richard J L, Gaynor, J William, Shaw, Philip, Devoto, Marcella, White, Peter S, Grant, Struan F A, Buxbaum, Joseph D, Rapoport, Judith L, Williams, Nigel M, Nelson, Stanley F, Faraone, Stephen V, Hakonarson, Hakon

“…Hakon Hakonarson and colleagues report a genome-wide copy number variation study in 3,506 cases of attention-deficit hyperactivity disorder. The authors…”
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GWAS identifies four novel eosinophilic esophagitis loci by Sleiman, Patrick M. A., Wang, Mei-Lun, Cianferoni, Antonella, Aceves, Seema, Gonsalves, Nirmala, Nadeau, Kari, Bredenoord, Albert J., Furuta, Glenn T., Spergel, Jonathan M., Hakonarson, Hakon

“…Eosinophilic esophagitis (EoE) is an allergic disorder characterized by infiltration of the oesophagus with eosinophils. We had previously reported association…”
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A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci by 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

“…Diabetes impacts approximately 200 million people worldwide, of whom approximately 10% are affected by type 1 diabetes (T1D). The application of genome-wide…”
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Variants of DENND1B Associated with Asthma in Children by Sleiman, Patrick M.A, Flory, James, Imielinski, Marcin, Bradfield, Jonathan P, Annaiah, Kiran, Willis-Owen, Saffron A.G, Wang, Kai, Rafaels, Nicholas M, Michel, Sven, Bonnelykke, Klaus, Zhang, Haitao, Kim, Cecilia E, Frackelton, Edward C, Glessner, Joseph T, Hou, Cuiping, Otieno, F. George, Santa, Erin, Thomas, Kelly, Smith, Ryan M, Glaberson, Wendy R, Garris, Maria, Chiavacci, Rosetta M, Beaty, Terri H, Ruczinski, Ingo, Orange, Jordan M, Allen, Julian, Spergel, Jonathan M, Grundmeier, Robert, Mathias, Rasika A, Christie, Jason D, von Mutius, Erika, Cookson, William O.C, Kabesch, Michael, Moffatt, Miriam F, Grunstein, Michael M, Barnes, Kathleen C, Devoto, Marcella, Magnusson, Mark, Li, Hongzhe, Grant, Struan F.A, Bisgaard, Hans, Hakonarson, Hakon

“…A genomewide association study involving children of Northern European ancestry who had asthma yielded an association with a locus on chromosome 1q31 that was…”
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Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis by Martignetti, John A., Tian, Lifeng, Li, Dong, Ramirez, Maria Celeste M., Camacho-Vanegas, Olga, Camacho, Sandra Catalina, Guo, Yiran, Zand, Dina J., Bernstein, Audrey M., Masur, Sandra K., Kim, Cecilia E., Otieno, Frederick G., Hou, Cuiping, Abdel-Magid, Nada, Tweddale, Ben, Metry, Denise, Fournet, Jean-Christophe, Papp, Eniko, McPherson, Elizabeth W., Zabel, Carrie, Vaksmann, Guy, Morisot, Cyril, Keating, Brendan, Sleiman, Patrick M., Cleveland, Jeffrey A., Everman, David B., Zackai, Elaine, Hakonarson, Hakon

“…Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle,…”
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Diverse Genome-wide Association Studies Associate the IL12/IL23 Pathway with Crohn Disease by Wang, Kai, Zhang, Haitao, Kugathasan, Subra, Annese, Vito, Bradfield, Jonathan P., Russell, Richard K., Sleiman, Patrick M.A., Imielinski, Marcin, Glessner, Joseph, Hou, Cuiping, Wilson, David C., Walters, Thomas, Kim, Cecilia, Frackelton, Edward C., Lionetti, Paolo, Barabino, Arrigo, Van Limbergen, Johan, Guthery, Stephen, Denson, Lee, Piccoli, David, Li, Mingyao, Dubinsky, Marla, Silverberg, Mark, Griffiths, Anne, Grant, Struan F.A., Satsangi, Jack, Baldassano, Robert, Hakonarson, Hakon

“…Previous genome-wide association (GWA) studies typically focus on single-locus analysis, which may not have the power to detect the majority of genuinely…”
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NAC blocks Cystatin C amyloid complex aggregation in a cell system and in skin of HCCAA patients by March, Michael E., Gutierrez-Uzquiza, Alvaro, Snorradottir, Asbjorg Osk, Matsuoka, Leticia S., Balvis, Noelia Fonseca, Gestsson, Thorgeir, Nguyen, Kenny, Sleiman, Patrick M. A., Kao, Charlly, Isaksson, Helgi J., Bragason, Birkir Thor, Olafsson, Elias, Palsdottir, Astridur, Hakonarson, Hakon

“…Hereditary cystatin C amyloid angiopathy is a dominantly inherited disease caused by a leucine to glutamine variant of human cystatin C (hCC). L68Q-hCC forms…”
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MONTAGE: a new tool for high-throughput detection of mosaic copy number variation by Glessner, Joseph T, Chang, Xiao, Liu, Yichuan, Li, Jin, Khan, Munir, Wei, Zhi, Sleiman, Patrick M A, Hakonarson, Hakon

“…Not all cells in a given individual are identical in their genomic makeup. Mosaicism describes such a phenomenon where a mixture of genotypic states in certain…”
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Burden of rare coding variants reveals genetic heterogeneity between obese and non-obese asthma patients in the African American population by Liu, Yichuan, Qu, Hui-Qi, Qu, Jingchun, Chang, Xiao, Mentch, Frank D, Nguyen, Kenny, Tian, Lifeng, Glessner, Joseph, Sleiman, Patrick M A, Hakonarson, Hakon

“…Asthma is a complex condition largely attributed to the interactions among genes and environments as a heterogeneous phenotype. Obesity is significantly…”
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An electronic health record (EHR) phenotype algorithm to identify patients with attention deficit hyperactivity disorders (ADHD) and psychiatric comorbidities by Slaby, Isabella, Hain, Heather S, Abrams, Debra, Mentch, Frank D, Glessner, Joseph T, Sleiman, Patrick M A, Hakonarson, Hakon

“…In over half of pediatric cases, ADHD presents with comorbidities, and often, it is unclear whether the symptoms causing impairment are due to the comorbidity…”
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The Philadelphia Neurodevelopmental Cohort: constructing a deep phenotyping collaborative by 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.

“…Background An integrative multidisciplinary approach is required to elucidate the multiple factors that shape neurodevelopmental trajectories of mental…”
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Insights into non-autoimmune type 1 diabetes with 13 novel loci in low polygenic risk score patients by Qu, Jingchun, Qu, Hui-Qi, Bradfield, Jonathan P., Glessner, Joseph T., Chang, Xiao, Tian, Lifeng, March, Michael, Connolly, John J., Roizen, Jeffrey D., Sleiman, Patrick M. A., Hakonarson, Hakon

“…With polygenic risk score (PRS) for autoimmune type 1 diabetes (T1D), this study identified T1D cases with low T1D PRS and searched for susceptibility loci in…”
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Chromosome 17q21 Gene Variants Are Associated with Asthma and Exacerbations but Not Atopy in Early Childhood by Bisgaard, Hans, Bonnelykke, Klaus, Sleiman, Patrick M. A, Brasholt, Martin, Chawes, Bo, Kreiner-Moller, Eskil, Stage, Malene, Kim, Cecilia, Tavendale, Roger, Baty, Florent, Pipper, Christian Bressen, Palmer, Colin N. A, Hakonarsson, Hakon

“…An asthma predisposition locus on chromosome 17q12-q21 has recently been replicated in different ethnic groups. To characterize the asthma and atopy phenotypes…”
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Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects by Wang, Kai, Baldassano, Robert, Zhang, Haitao, Qu, Hui-Qi, Imielinski, Marcin, Kugathasan, Subra, Annese, Vito, Dubinsky, Marla, Rotter, Jerome I., Russell, Richard K., Bradfield, Jonathan P., Sleiman, Patrick M.A., Glessner, Joseph T., Walters, Thomas, Hou, Cuiping, Kim, Cecilia, Frackelton, Edward C., Garris, Maria, Doran, James, Romano, Claudio, Catassi, Carlo, Van Limbergen, Johan, Guthery, Stephen L., Denson, Lee, Piccoli, David, Silverberg, Mark S., Stanley, Charles A., Monos, Dimitri, Wilson, David C., Griffiths, Anne, Grant, Struan F.A., Satsangi, Jack, Polychronakos, Constantin, Hakonarson, Hakon

“…Inflammatory bowel disease, including Crohn's disease (CD) and ulcerative colitis (UC), and type 1 diabetes (T1D) are autoimmune diseases that may share common…”
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