Search Results - "Hakonarson, Hakon"

Model-based deep embedding for constrained clustering analysis of single cell RNA-seq data by Tian, Tian, Zhang, Jie, Lin, Xiang, Wei, Zhi, Hakonarson, Hakon

“…Clustering is a critical step in single cell-based studies. Most existing methods support unsupervised clustering without the a priori exploitation of any…”
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Clustering of single-cell multi-omics data with a multimodal deep learning method by Lin, Xiang, Tian, Tian, Wei, Zhi, Hakonarson, Hakon

“…Single-cell multimodal sequencing technologies are developed to simultaneously profile different modalities of data in the same cell. It provides a unique…”
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Impact of in-scanner head motion on multiple measures of functional connectivity: Relevance for studies of neurodevelopment in youth by Satterthwaite, Theodore D., Wolf, Daniel H., Loughead, James, Ruparel, Kosha, Elliott, Mark A., Hakonarson, Hakon, Gur, Ruben C., Gur, Raquel E.

“…It has recently been reported (Van Dijk et al., 2011) that in-scanner head motion can have a substantial impact on MRI measurements of resting-state functional…”
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Sex differences in the structural connectome of the human brain by lngalhalikar, Madhura, Smith, Alex, Parker, Drew, Satterthwaite, Theodore D., Elliott, Mark A., Ruparel, Kosha, Hakonarson, Hakon, Gur, Raquel E., Gur, Ruben C., Verma, Ragini

“…Sex differences in human behavior show adaptive complementarity: Males have better motor and spatial abilities, whereas females have superior memory and social…”
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Age-Related Effects and Sex Differences in Gray Matter Density, Volume, Mass, and Cortical Thickness from Childhood to Young Adulthood by Gennatas, Efstathios D, Avants, Brian B, Wolf, Daniel H, Satterthwaite, Theodore D, Ruparel, Kosha, Ciric, Rastko, Hakonarson, Hakon, Gur, Raquel E, Gur, Ruben C

“…Developmental structural neuroimaging studies in humans have long described decreases in gray matter volume (GMV) and cortical thickness (CT) during…”
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The role of gene-ambient air pollution interactions in paediatric asthma by Kelchtermans, Jelte, Hakonarson, Hakon

“…Globally, asthma prevention and treatment remain a challenge. Ambient air pollution (AAP) is an environmental risk factor of special interest in asthma…”
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CLEC16A -An Emerging Master Regulator of Autoimmunity and Neurodegeneration by Pandey, Rahul, Bakay, Marina, Hakonarson, Hakon

“…CLEC16A is emerging as an important genetic risk factor for several autoimmune disorders and for Parkinson disease (PD), opening new avenues for translational…”
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Rare variants create synthetic genome-wide associations by Dickson, Samuel P, Wang, Kai, Krantz, Ian, Hakonarson, Hakon, Goldstein, David B

“…Genome-wide association studies (GWAS) have now identified at least 2,000 common variants that appear associated with common diseases or related traits…”
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SNVer: a statistical tool for variant calling in analysis of pooled or individual next-generation sequencing data by Wei, Zhi, Wang, Wei, Hu, Pingzhao, Lyon, Gholson J., Hakonarson, Hakon

“…We develop a statistical tool SNVer for calling common and rare variants in analysis of pooled or individual next-generation sequencing (NGS) data. We…”
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Distinct features of SARS-CoV-2-specific IgA response in COVID-19 patients by Yu, Hai-Qiong, Sun, Bao-Qing, Fang, Zhang-Fu, Zhao, Jin-Cun, Liu, Xiao-Yu, Li, Yi-Min, Sun, Xi-Zhuo, Liang, Hong-Feng, Zhong, Bei, Huang, Zhi-Feng, Zheng, Pei-Yan, Tian, Li-Feng, Qu, Hui-Qi, Liu, De-Chen, Wang, Er-Yi, Xiao, Xiao-Jun, Li, Shi-Yue, Ye, Feng, Guan, Li, Hu, Dong-Sheng, Hakonarson, Hakon, Liu, Zhi-Gang, Zhong, Nan-Shan

“…In comparison to severe acute respiratory syndrome coronavirus (SARS-CoV), SARS-CoV-2 appears to be more contagious [1], and coronavirus disease 2019…”
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SOCS-JAK-STAT inhibitors and SOCS mimetics as treatment options for autoimmune uveitis, psoriasis, lupus, and autoimmune encephalitis by Pandey, Rahul, Bakay, Marina, Hakonarson, Hakon

“…Autoimmune diseases arise from atypical immune responses that attack self-tissue epitopes, and their development is intricately connected to the disruption of…”
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Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations by Li, Yun Rose, Glessner, Joseph T., Coe, Bradley P., Li, Jin, Mohebnasab, Maede, Chang, Xiao, Connolly, John, Kao, Charlly, Wei, Zhi, Bradfield, Jonathan, Kim, Cecilia, Hou, Cuiping, Khan, Munir, Mentch, Frank, Qiu, Haijun, Bakay, Marina, Cardinale, Christopher, Lemma, Maria, Abrams, Debra, Bridglall-Jhingoor, Andrew, Behr, Meckenzie, Harrison, Shanell, Otieno, George, Thomas, Alexandria, Wang, Fengxiang, Chiavacci, Rosetta, Wu, Lawrence, Hadley, Dexter, Goldmuntz, Elizabeth, Elia, Josephine, Maris, John, Grundmeier, Robert, Devoto, Marcella, Keating, Brendan, March, Michael, Pellagrino, Renata, Grant, Struan F. A., Sleiman, Patrick M. A., Li, Mingyao, Eichler, Evan E., Hakonarson, Hakon

“…Copy number variants (CNVs) are suggested to have a widespread impact on the human genome and phenotypes. To understand the role of CNVs across human diseases,…”
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Neuroimaging of the Philadelphia Neurodevelopmental Cohort by Satterthwaite, Theodore D., Elliott, Mark A., Ruparel, Kosha, Loughead, James, Prabhakaran, Karthik, Calkins, Monica E., Hopson, Ryan, Jackson, Chad, Keefe, Jack, Riley, Marisa, Mentch, Frank D., Sleiman, Patrick, Verma, Ragini, Davatzikos, Christos, Hakonarson, Hakon, Gur, Ruben C., Gur, Raquel E.

“…The Philadelphia Neurodevelopmental Cohort (PNC) is a large-scale, NIMH funded initiative to understand how brain maturation mediates cognitive development and…”
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Navigating Complexity in Postural Orthostatic Tachycardia Syndrome by Qu, Hui-Qi, Hakonarson, Hakon

“…Postural Orthostatic Tachycardia Syndrome (POTS) affects up to 1% of the US population, predominantly women, and is characterized by a complex, elusive…”
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Frequency of genomic secondary findings among 21,915 eMERGE network participants by Gordon, Adam S, Zouk Hana, Venner, Eric, Eng, Christine M, Funke, Birgit H, Amendola, Laura M, Carrell, David S, Chisholm, Rex L, Chung, Wendy K, Denny, Joshua C, Fedotov, Alexander, Hakonarson Hakon, Kullo, Iftikhar J, Larson, Eric B, Leduc, Magalie S, Leppig, Kathleen A, Lennon, Niall J, Linder, Jodell E, Muzny, Donna M, Prows, Cynthia A, Rasmussen-Torvik, Laura J, Rasouly Hila Milo, Roden, Dan M, Rosenthal, Elisabeth A, Smith, Maureen E, Stanaway, Ian B, Van Driest Sara L, Walker, Kimberly, Wiesner, Georgia L, Williams, Marc S, Witkowski Leora, Crosslin David R, Gibbs, Richard A, Rehm, Heidi L, Jarvik, Gail P

“…Purpose Discovering an incidental finding (IF) or secondary finding (SF) is a potential result of genomic testing, but few data exist describing types and…”
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JAK/STAT inhibitor therapy partially rescues the lipodystrophic autoimmune phenotype in Clec16a KO mice by Pandey, Rahul, Bakay, Marina, Strenkowski, Bryan P., Hain, Heather S., Hakonarson, Hakon

“…CLEC16A is implicated in multiple autoimmune diseases. We generated an inducible whole-body knockout (KO), Clec16a ΔUBC mice to address the role of CLEC16A…”
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PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data by Wang, Kai, Li, Mingyao, Hadley, Dexter, Liu, Rui, Glessner, Joseph, Grant, Struan F A, Hakonarson, Hakon, Bucan, Maja

“…Comprehensive identification and cataloging of copy number variations (CNVs) is required to provide a complete view of human genetic variation. The resolution…”
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Candidate gene analyses for acute pain and morphine analgesia after pediatric day surgery: African American versus European Caucasian ancestry and dose prediction limits by Li, Jin, Wei, Zhi, Zhang, Jie, Hakonarson, Hakon, Cook-Sather, Scott D.

“…Acute pain and opioid analgesia demonstrate inter-individual variability and polygenic influence. In 241 children of African American and 277 of European…”
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The impact of quality assurance assessment on diffusion tensor imaging outcomes in a large-scale population-based cohort by Roalf, David R., Quarmley, Megan, Elliott, Mark A., Satterthwaite, Theodore D., Vandekar, Simon N., Ruparel, Kosha, Gennatas, Efstathios D., Calkins, Monica E., Moore, Tyler M., Hopson, Ryan, Prabhakaran, Karthik, Jackson, Chad T., Verma, Ragini, Hakonarson, Hakon, Gur, Ruben C., Gur, Raquel E.

“…Diffusion tensor imaging (DTI) is applied in investigation of brain biomarkers for neurodevelopmental and neurodegenerative disorders. However, the quality of…”
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Neurocognitive growth charting in psychosis spectrum youths by Gur, Ruben C, Calkins, Monica E, Satterthwaite, Theodore D, Ruparel, Kosha, Bilker, Warren B, Moore, Tyler M, Savitt, Adam P, Hakonarson, Hakon, Gur, Raquel E

“…Psychosis-risk studies have examined help-seeking adolescents and young adults. Population-based studies evaluating psychotic symptoms and neurocognitive…”
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