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130 results on '"Payne, Anthony J"'

1. Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

Author: Flannick, Jason, Mercader, Josep M, Fuchsberger, Christian, Udler, Miriam S, Mahajan, Anubha, Wessel, Jennifer, Teslovich, Tanya M, Caulkins, Lizz, Koesterer, Ryan, Barajas-Olmos, Francisco, Blackwell, Thomas W, Boerwinkle, Eric, Brody, Jennifer A, Centeno-Cruz, Federico, Chen, Ling, Chen, Siying, Contreras-Cubas, Cecilia, Córdova, Emilio, Correa, Adolfo, Cortes, Maria, DeFronzo, Ralph A, Dolan, Lawrence, Drews, Kimberly L, Elliott, Amanda, Floyd, James S, Gabriel, Stacey, Garay-Sevilla, Maria Eugenia, García-Ortiz, Humberto, Gross, Myron, Han, Sohee, Heard-Costa, Nancy L, Jackson, Anne U, Jørgensen, Marit E, Kang, Hyun Min, Kelsey, Megan, Kim, Bong-Jo, Koistinen, Heikki A, Kuusisto, Johanna, Leader, Joseph B, Linneberg, Allan, Liu, Ching-Ti, Liu, Jianjun, Lyssenko, Valeriya, Manning, Alisa K, Marcketta, Anthony, Malacara-Hernandez, Juan Manuel, Martínez-Hernández, Angélica, Matsuo, Karen, Mayer-Davis, Elizabeth, Mendoza-Caamal, Elvia, Mohlke, Karen L, Morrison, Alanna C, Ndungu, Anne, Ng, Maggie CY, O’Dushlaine, Colm, Payne, Anthony J, Pihoker, Catherine, Post, Wendy S, Preuss, Michael, Psaty, Bruce M, Vasan, Ramachandran S, Rayner, N William, Reiner, Alexander P, Revilla-Monsalve, Cristina, Robertson, Neil R, Santoro, Nicola, Schurmann, Claudia, So, Wing Yee, Soberón, Xavier, Stringham, Heather M, Strom, Tim M, Tam, Claudia HT, Thameem, Farook, Tomlinson, Brian, Torres, Jason M, Tracy, Russell P, van Dam, Rob M, Vujkovic, Marijana, Wang, Shuai, Welch, Ryan P, Witte, Daniel R, Wong, Tien-Yin, Atzmon, Gil, Barzilai, Nir, Blangero, John, Bonnycastle, Lori L, Bowden, Donald W, Chambers, John C, Chan, Edmund, Cheng, Ching-Yu, Cho, Yoon Shin, Collins, Francis S, de Vries, Paul S, Duggirala, Ravindranath, Glaser, Benjamin, Gonzalez, Clicerio, Gonzalez, Ma Elena, Groop, Leif, Kooner, Jaspal Singh, and Kwak, Soo Heon
Subjects: Epidemiology, Biological Sciences, Health Sciences, Genetics, Human Genome, Prevention, Biotechnology, Diabetes, Aetiology, 2.1 Biological and endogenous factors, Metabolic and endocrine, Animals, Case-Control Studies, Decision Support Techniques, Diabetes Mellitus, Type 2, Exome, Female, Gene Frequency, Genome-Wide Association Study, Humans, Male, Mice, Mice, Knockout, Exome Sequencing, Broad Genomics Platform, DiscovEHR Collaboration, CHARGE, LuCamp, ProDiGY, GoT2D, ESP, SIGMA-T2D, T2D-GENES, AMP-T2D-GENES, General Science & Technology
Abstract: Protein-coding genetic variants that strongly affect disease risk can yield relevant clues to disease pathogenesis. Here we report exome-sequencing analyses of 20,791 individuals with type 2 diabetes (T2D) and 24,440 non-diabetic control participants from 5 ancestries. We identify gene-level associations of rare variants (with minor allele frequencies of less than 0.5%) in 4 genes at exome-wide significance, including a series of more than 30 SLC30A8 alleles that conveys protection against T2D, and in 12 gene sets, including those corresponding to T2D drug targets (P = 6.1 × 10-3) and candidate genes from knockout mice (P = 5.2 × 10-3). Within our study, the strongest T2D gene-level signals for rare variants explain at most 25% of the heritability of the strongest common single-variant signals, and the gene-level effect sizes of the rare variants that we observed in established T2D drug targets will require 75,000-185,000 sequenced cases to achieve exome-wide significance. We propose a method to interpret these modest rare-variant associations and to incorporate these associations into future target or gene prioritization efforts.
Published: 2019

2. Identifying cis-mediators for trans-eQTLs across many human tissues using genomic mediation analysis

Author: Yang, Fan, Wang, Jiebiao, Consortium, The GTEx, Pierce, Brandon L, Chen, Lin S, Aguet, François, Ardlie, Kristin G, Cummings, Beryl B, Gelfand, Ellen T, Getz, Gad, Hadley, Kane, Handsaker, Robert E, Huang, Katherine H, Kashin, Seva, Karczewski, Konrad J, Lek, Monkol, Li, Xiao, MacArthur, Daniel G, Nedzel, Jared L, Nguyen, Duyen T, Noble, Michael S, Segrè, Ayellet V, Trowbridge, Casandra A, Tukiainen, Taru, Abell, Nathan S, Balliu, Brunilda, Barshir, Ruth, Basha, Omer, Battle, Alexis, Bogu, Gireesh K, Brown, Andrew, Brown, Christopher D, Castel, Stephane E, Chiang, Colby, Conrad, Donald F, Cox, Nancy J, Damani, Farhan N, Davis, Joe R, Delaneau, Olivier, Dermitzakis, Emmanouil T, Engelhardt, Barbara E, Eskin, Eleazar, Ferreira, Pedro G, Frésard, Laure, Gamazon, Eric R, Garrido-Martín, Diego, Gewirtz, Ariel DH, Gliner, Genna, Gloudemans, Michael J, Guigo, Roderic, Hall, Ira M, Han, Buhm, He, Yuan, Hormozdiari, Farhad, Howald, Cedric, Im, Hae Kyung, Jo, Brian, Kang, Eun Yong, Kim, Yungil, Kim-Hellmuth, Sarah, Lappalainen, Tuuli, Li, Li, Xin, Liu, Boxiang, Mangul, Serghei, McCarthy, Mark I, McDowell, Ian C, Mohammadi, Pejman, Monlong, Jean, Montgomery, Stephen B, Muñoz-Aguirre, Manuel, Ndungu, Anne W, Nicolae, Dan L, Nobel, Andrew B, Oliva, Meritxell, Ongen, Halit, Palowitch, John J, Panousis, Nikolaos, Papasaikas, Panagiotis, Park, YoSon, Parsana, Princy, Payne, Anthony J, Peterson, Christine B, Quan, Jie, Reverter, Ferran, Sabatti, Chiara, Saha, Ashis, Sammeth, Michael, Scott, Alexandra J, Shabalin, Andrey A, Sodaei, Reza, Stephens, Matthew, Stranger, Barbara E, Strober, Benjamin J, Sul, Jae Hoon, Tsang, Emily K, Urbut, Sarah, van de Bunt, Martijn, and Wang, Gao
Subjects: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Biotechnology, Human Genome, 2.1 Biological and endogenous factors, Underpinning research, Aetiology, 1.1 Normal biological development and functioning, Generic health relevance, Good Health and Well Being, Databases, Genetic, Gene Expression Profiling, Gene Expression Regulation, Gene Regulatory Networks, Genetic Predisposition to Disease, Genome-Wide Association Study, Genomics, Humans, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Selection, Genetic, Tissue Distribution, GTEx Consortium, Medical and Health Sciences, Bioinformatics
Abstract: The impact of inherited genetic variation on gene expression in humans is well-established. The majority of known expression quantitative trait loci (eQTLs) impact expression of local genes (cis-eQTLs). More research is needed to identify effects of genetic variation on distant genes (trans-eQTLs) and understand their biological mechanisms. One common trans-eQTLs mechanism is "mediation" by a local (cis) transcript. Thus, mediation analysis can be applied to genome-wide SNP and expression data in order to identify transcripts that are "cis-mediators" of trans-eQTLs, including those "cis-hubs" involved in regulation of many trans-genes. Identifying such mediators helps us understand regulatory networks and suggests biological mechanisms underlying trans-eQTLs, both of which are relevant for understanding susceptibility to complex diseases. The multitissue expression data from the Genotype-Tissue Expression (GTEx) program provides a unique opportunity to study cis-mediation across human tissue types. However, the presence of complex hidden confounding effects in biological systems can make mediation analyses challenging and prone to confounding bias, particularly when conducted among diverse samples. To address this problem, we propose a new method: Genomic Mediation analysis with Adaptive Confounding adjustment (GMAC). It enables the search of a very large pool of variables, and adaptively selects potential confounding variables for each mediation test. Analyses of simulated data and GTEx data demonstrate that the adaptive selection of confounders by GMAC improves the power and precision of mediation analysis. Application of GMAC to GTEx data provides new insights into the observed patterns of cis-hubs and trans-eQTL regulation across tissue types.
Published: 2017

3. Co-expression networks reveal the tissue-specific regulation of transcription and splicing

Author: Saha, Ashis, Kim, Yungil, Gewirtz, Ariel DH, Jo, Brian, Gao, Chuan, McDowell, Ian C, Consortium, The GTEx, Engelhardt, Barbara E, Battle, Alexis, Aguet, François, Ardlie, Kristin G, Cummings, Beryl B, Gelfand, Ellen T, Getz, Gad, Hadley, Kane, Handsaker, Robert E, Huang, Katherine H, Kashin, Seva, Karczewski, Konrad J, Lek, Monkol, Li, Xiao, MacArthur, Daniel G, Nedzel, Jared L, Nguyen, Duyen T, Noble, Michael S, Segrè, Ayellet V, Trowbridge, Casandra A, Tukiainen, Taru, Abell, Nathan S, Balliu, Brunilda, Barshir, Ruth, Basha, Omer, Bogu, Gireesh K, Brown, Andrew, Brown, Christopher D, Castel, Stephane E, Chen, Lin S, Chiang, Colby, Conrad, Donald F, Cox, Nancy J, Damani, Farhan N, Davis, Joe R, Delaneau, Olivier, Dermitzakis, Emmanouil T, Eskin, Eleazar, Ferreira, Pedro G, Frésard, Laure, Gamazon, Eric R, Garrido-Martín, Diego, Gliner, Genna, Gloudemans, Michael J, Guigo, Roderic, Hall, Ira M, Han, Buhm, He, Yuan, Hormozdiari, Farhad, Howald, Cedric, Im, Hae Kyung, Kang, Eun Yong, Kim-Hellmuth, Sarah, Lappalainen, Tuuli, Li, Li, Xin, Liu, Boxiang, Mangul, Serghei, McCarthy, Mark I, Mohammadi, Pejman, Monlong, Jean, Montgomery, Stephen B, Muñoz-Aguirre, Manuel, Ndungu, Anne W, Nicolae, Dan L, Nobel, Andrew B, Oliva, Meritxell, Ongen, Halit, Palowitch, John J, Panousis, Nikolaos, Papasaikas, Panagiotis, Park, YoSon, Parsana, Princy, Payne, Anthony J, Peterson, Christine B, Quan, Jie, Reverter, Ferran, Sabatti, Chiara, Sammeth, Michael, Scott, Alexandra J, Shabalin, Andrey A, Sodaei, Reza, Stephens, Matthew, Stranger, Barbara E, Strober, Benjamin J, and Sul, Jae Hoon
Subjects: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Biotechnology, Human Genome, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Generic health relevance, Bayes Theorem, Databases, Genetic, Gene Expression Profiling, Gene Expression Regulation, Gene Regulatory Networks, Genotyping Techniques, Humans, Organ Specificity, Polymorphism, Single Nucleotide, RNA Splicing, Sequence Analysis, RNA, GTEx Consortium, Medical and Health Sciences, Bioinformatics
Abstract: Gene co-expression networks capture biologically important patterns in gene expression data, enabling functional analyses of genes, discovery of biomarkers, and interpretation of genetic variants. Most network analyses to date have been limited to assessing correlation between total gene expression levels in a single tissue or small sets of tissues. Here, we built networks that additionally capture the regulation of relative isoform abundance and splicing, along with tissue-specific connections unique to each of a diverse set of tissues. We used the Genotype-Tissue Expression (GTEx) project v6 RNA sequencing data across 50 tissues and 449 individuals. First, we developed a framework called Transcriptome-Wide Networks (TWNs) for combining total expression and relative isoform levels into a single sparse network, capturing the interplay between the regulation of splicing and transcription. We built TWNs for 16 tissues and found that hubs in these networks were strongly enriched for splicing and RNA binding genes, demonstrating their utility in unraveling regulation of splicing in the human transcriptome. Next, we used a Bayesian biclustering model that identifies network edges unique to a single tissue to reconstruct Tissue-Specific Networks (TSNs) for 26 distinct tissues and 10 groups of related tissues. Finally, we found genetic variants associated with pairs of adjacent nodes in our networks, supporting the estimated network structures and identifying 20 genetic variants with distant regulatory impact on transcription and splicing. Our networks provide an improved understanding of the complex relationships of the human transcriptome across tissues.
Published: 2017

4. Dynamic landscape and regulation of RNA editing in mammals

Author: Aguet, François, Ardlie, Kristin G, Cummings, Beryl B, Gelfand, Ellen T, Getz, Gad, Hadley, Kane, Handsaker, Robert E, Huang, Katherine H, Kashin, Seva, Karczewski, Konrad J, Lek, Monkol, Li, Xiao, MacArthur, Daniel G, Nedzel, Jared L, Nguyen, Duyen T, Noble, Michael S, Segrè, Ayellet V, Trowbridge, Casandra A, Tukiainen, Taru, Abell, Nathan S, Balliu, Brunilda, Barshir, Ruth, Basha, Omer, Battle, Alexis, Bogu, Gireesh K, Brown, Andrew, Brown, Christopher D, Castel, Stephane E, Chen, Lin S, Chiang, Colby, Conrad, Donald F, Cox, Nancy J, Damani, Farhan N, Davis, Joe R, Delaneau, Olivier, Dermitzakis, Emmanouil T, Engelhardt, Barbara E, Eskin, Eleazar, Ferreira, Pedro G, Frésard, Laure, Gamazon, Eric R, Garrido-Martín, Diego, Gewirtz, Ariel DH, Gliner, Genna, Gloudemans, Michael J, Guigo, Roderic, Hall, Ira M, Han, Buhm, He, Yuan, Hormozdiari, Farhad, Howald, Cedric, Kyung Im, Hae, Jo, Brian, Yong Kang, Eun, Kim, Yungil, Kim-Hellmuth, Sarah, Lappalainen, Tuuli, Li, Gen, Li, Xin, Liu, Boxiang, Mangul, Serghei, McCarthy, Mark I, McDowell, Ian C, Mohammadi, Pejman, Monlong, Jean, Montgomery, Stephen B, Muñoz-Aguirre, Manuel, Ndungu, Anne W, Nicolae, Dan L, Nobel, Andrew B, Oliva, Meritxell, Ongen, Halit, Palowitch, John J, Panousis, Nikolaos, Papasaikas, Panagiotis, Park, YoSon, Parsana, Princy, Payne, Anthony J, Peterson, Christine B, Quan, Jie, Reverter, Ferran, Sabatti, Chiara, Saha, Ashis, Sammeth, Michael, Scott, Alexandra J, Shabalin, Andrey A, Sodaei, Reza, Stephens, Matthew, Stranger, Barbara E, Strober, Benjamin J, Sul, Jae Hoon, Tsang, Emily K, Urbut, Sarah, van de Bunt, Martijn, Wang, Gao, Wen, Xiaoquan, Wright, Fred A, Xi, Hualin S, Yeger-Lotem, Esti, and Zappala, Zachary
Subjects: Biological Sciences, Bioinformatics and Computational Biology, Genetics, Adenosine Deaminase, Animals, Female, Genotype, HEK293 Cells, Humans, Male, Mice, Muscles, Nuclear Proteins, Organ Specificity, Primates, Proteolysis, RNA Editing, RNA-Binding Proteins, Spatio-Temporal Analysis, Species Specificity, Transcriptome, GTEx Consortium, Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group, Statistical Methods groups—Analysis Working Group, Enhancing GTEx (eGTEx) groups, NIH Common Fund, NIH/NCI, NIH/NHGRI, NIH/NIMH, NIH/NIDA, Biospecimen Collection Source Site—NDRI, Biospecimen Collection Source Site—RPCI, Biospecimen Core Resource—VARI, Brain Bank Repository—University of Miami Brain Endowment Bank, Leidos Biomedical—Project Management, ELSI Study, Genome Browser Data Integration &Visualization—EBI, Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz, General Science & Technology
Abstract: Adenosine-to-inosine (A-to-I) RNA editing is a conserved post-transcriptional mechanism mediated by ADAR enzymes that diversifies the transcriptome by altering selected nucleotides in RNA molecules. Although many editing sites have recently been discovered, the extent to which most sites are edited and how the editing is regulated in different biological contexts are not fully understood. Here we report dynamic spatiotemporal patterns and new regulators of RNA editing, discovered through an extensive profiling of A-to-I RNA editing in 8,551 human samples (representing 53 body sites from 552 individuals) from the Genotype-Tissue Expression (GTEx) project and in hundreds of other primate and mouse samples. We show that editing levels in non-repetitive coding regions vary more between tissues than editing levels in repetitive regions. Globally, ADAR1 is the primary editor of repetitive sites and ADAR2 is the primary editor of non-repetitive coding sites, whereas the catalytically inactive ADAR3 predominantly acts as an inhibitor of editing. Cross-species analysis of RNA editing in several tissues revealed that species, rather than tissue type, is the primary determinant of editing levels, suggesting stronger cis-directed regulation of RNA editing for most sites, although the small set of conserved coding sites is under stronger trans-regulation. In addition, we curated an extensive set of ADAR1 and ADAR2 targets and showed that many editing sites display distinct tissue-specific regulation by the ADAR enzymes in vivo. Further analysis of the GTEx data revealed several potential regulators of editing, such as AIMP2, which reduces editing in muscles by enhancing the degradation of the ADAR proteins. Collectively, our work provides insights into the complex cis- and trans-regulation of A-to-I editing.
Published: 2017

5. Landscape of X chromosome inactivation across human tissues

Author: Aguet, François, Ardlie, Kristin G, Cummings, Beryl B, Gelfand, Ellen T, Getz, Gad, Hadley, Kane, Handsaker, Robert E, Huang, Katherine H, Kashin, Seva, Karczewski, Konrad J, Lek, Monkol, Li, Xiao, MacArthur, Daniel G, Nedzel, Jared L, Nguyen, Duyen T, Noble, Michael S, Segrè, Ayellet V, Trowbridge, Casandra A, Tukiainen, Taru, Abell, Nathan S, Balliu, Brunilda, Barshir, Ruth, Basha, Omer, Battle, Alexis, Bogu, Gireesh K, Brown, Andrew, Brown, Christopher D, Castel, Stephane E, Chen, Lin S, Chiang, Colby, Conrad, Donald F, Cox, Nancy J, Damani, Farhan N, Davis, Joe R, Delaneau, Olivier, Dermitzakis, Emmanouil T, Engelhardt, Barbara E, Eskin, Eleazar, Ferreira, Pedro G, Frésard, Laure, Gamazon, Eric R, Garrido-Martín, Diego, Gewirtz, Ariel DH, Gliner, Genna, Gloudemans, Michael J, Guigo, Roderic, Hall, Ira M, Han, Buhm, He, Yuan, Hormozdiari, Farhad, Howald, Cedric, Kyung Im, Hae, Jo, Brian, Yong Kang, Eun, Kim, Yungil, Kim-Hellmuth, Sarah, Lappalainen, Tuuli, Li, Gen, Li, Xin, Liu, Boxiang, Mangul, Serghei, McCarthy, Mark I, McDowell, Ian C, Mohammadi, Pejman, Monlong, Jean, Montgomery, Stephen B, Muñoz-Aguirre, Manuel, Ndungu, Anne W, Nicolae, Dan L, Nobel, Andrew B, Oliva, Meritxell, Ongen, Halit, Palowitch, John J, Panousis, Nikolaos, Papasaikas, Panagiotis, Park, YoSon, Parsana, Princy, Payne, Anthony J, Peterson, Christine B, Quan, Jie, Reverter, Ferran, Sabatti, Chiara, Saha, Ashis, Sammeth, Michael, Scott, Alexandra J, Shabalin, Andrey A, Sodaei, Reza, Stephens, Matthew, Stranger, Barbara E, Strober, Benjamin J, Sul, Jae Hoon, Tsang, Emily K, Urbut, Sarah, van de Bunt, Martijn, Wang, Gao, Wen, Xiaoquan, Wright, Fred A, Xi, Hualin S, Yeger-Lotem, Esti, and Zappala, Zachary
Subjects: Genetics, Clinical Research, Human Genome, Generic health relevance, Good Health and Well Being, Chromosomes, Human, X, Female, Genes, X-Linked, Genome, Human, Genomics, Humans, Male, Organ Specificity, Phenotype, Sequence Analysis, RNA, Single-Cell Analysis, Transcriptome, X Chromosome Inactivation, GTEx Consortium, Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group, Statistical Methods groups—Analysis Working Group, Enhancing GTEx (eGTEx) groups, NIH Common Fund, NIH/NCI, NIH/NHGRI, NIH/NIMH, NIH/NIDA, Biospecimen Collection Source Site—NDRI, Biospecimen Collection Source Site—RPCI, Biospecimen Core Resource—VARI, Brain Bank Repository—University of Miami Brain Endowment Bank, Leidos Biomedical—Project Management, ELSI Study, Genome Browser Data Integration &Visualization—EBI, Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz, General Science & Technology
Abstract: X chromosome inactivation (XCI) silences transcription from one of the two X chromosomes in female mammalian cells to balance expression dosage between XX females and XY males. XCI is, however, incomplete in humans: up to one-third of X-chromosomal genes are expressed from both the active and inactive X chromosomes (Xa and Xi, respectively) in female cells, with the degree of 'escape' from inactivation varying between genes and individuals. The extent to which XCI is shared between cells and tissues remains poorly characterized, as does the degree to which incomplete XCI manifests as detectable sex differences in gene expression and phenotypic traits. Here we describe a systematic survey of XCI, integrating over 5,500 transcriptomes from 449 individuals spanning 29 tissues from GTEx (v6p release) and 940 single-cell transcriptomes, combined with genomic sequence data. We show that XCI at 683 X-chromosomal genes is generally uniform across human tissues, but identify examples of heterogeneity between tissues, individuals and cells. We show that incomplete XCI affects at least 23% of X-chromosomal genes, identify seven genes that escape XCI with support from multiple lines of evidence and demonstrate that escape from XCI results in sex biases in gene expression, establishing incomplete XCI as a mechanism that is likely to introduce phenotypic diversity. Overall, this updated catalogue of XCI across human tissues helps to increase our understanding of the extent and impact of the incompleteness in the maintenance of XCI.
Published: 2017

6. The impact of rare variation on gene expression across tissues

Author: Aguet, François, Ardlie, Kristin G, Cummings, Beryl B, Gelfand, Ellen T, Getz, Gad, Hadley, Kane, Handsaker, Robert E, Huang, Katherine H, Kashin, Seva, Karczewski, Konrad J, Lek, Monkol, Li, Xiao, MacArthur, Daniel G, Nedzel, Jared L, Nguyen, Duyen T, Noble, Michael S, Segrè, Ayellet V, Trowbridge, Casandra A, Tukiainen, Taru, Abell, Nathan S, Balliu, Brunilda, Barshir, Ruth, Basha, Omer, Battle, Alexis, Bogu, Gireesh K, Brown, Andrew, Brown, Christopher D, Castel, Stephane E, Chen, Lin S, Chiang, Colby, Conrad, Donald F, Cox, Nancy J, Damani, Farhan N, Davis, Joe R, Delaneau, Olivier, Dermitzakis, Emmanouil T, Engelhardt, Barbara E, Eskin, Eleazar, Ferreira, Pedro G, Frésard, Laure, Gamazon, Eric R, Garrido-Martín, Diego, Gewirtz, Ariel DH, Gliner, Genna, Gloudemans, Michael J, Guigo, Roderic, Hall, Ira M, Han, Buhm, He, Yuan, Hormozdiari, Farhad, Howald, Cedric, Kyung Im, Hae, Jo, Brian, Yong Kang, Eun, Kim, Yungil, Kim-Hellmuth, Sarah, Lappalainen, Tuuli, Li, Gen, Li, Xin, Liu, Boxiang, Mangul, Serghei, McCarthy, Mark I, McDowell, Ian C, Mohammadi, Pejman, Monlong, Jean, Montgomery, Stephen B, Muñoz-Aguirre, Manuel, Ndungu, Anne W, Nicolae, Dan L, Nobel, Andrew B, Oliva, Meritxell, Ongen, Halit, Palowitch, John J, Panousis, Nikolaos, Papasaikas, Panagiotis, Park, YoSon, Parsana, Princy, Payne, Anthony J, Peterson, Christine B, Quan, Jie, Reverter, Ferran, Sabatti, Chiara, Saha, Ashis, Sammeth, Michael, Scott, Alexandra J, Shabalin, Andrey A, Sodaei, Reza, Stephens, Matthew, Stranger, Barbara E, Strober, Benjamin J, Sul, Jae Hoon, Tsang, Emily K, Urbut, Sarah, van de Bunt, Martijn, Wang, Gao, Wen, Xiaoquan, Wright, Fred A, Xi, Hualin S, Yeger-Lotem, Esti, and Zappala, Zachary
Subjects: Bayes Theorem, Female, Gene Expression Profiling, Genetic Variation, Genome, Human, Genomics, Genotype, Humans, Male, Models, Genetic, Organ Specificity, Sequence Analysis, RNA, GTEx Consortium, Laboratory, Data Analysis &Coordinating Center (LDACC)—Analysis Working Group, Statistical Methods groups—Analysis Working Group, Enhancing GTEx (eGTEx) groups, NIH Common Fund, NIH/NCI, NIH/NHGRI, NIH/NIMH, NIH/NIDA, Biospecimen Collection Source Site—NDRI, Biospecimen Collection Source Site—RPCI, Biospecimen Core Resource—VARI, Brain Bank Repository—University of Miami Brain Endowment Bank, Leidos Biomedical—Project Management, ELSI Study, Genome Browser Data Integration &Visualization—EBI, Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz, General Science & Technology
Abstract: Rare genetic variants are abundant in humans and are expected to contribute to individual disease risk. While genetic association studies have successfully identified common genetic variants associated with susceptibility, these studies are not practical for identifying rare variants. Efforts to distinguish pathogenic variants from benign rare variants have leveraged the genetic code to identify deleterious protein-coding alleles, but no analogous code exists for non-coding variants. Therefore, ascertaining which rare variants have phenotypic effects remains a major challenge. Rare non-coding variants have been associated with extreme gene expression in studies using single tissues, but their effects across tissues are unknown. Here we identify gene expression outliers, or individuals showing extreme expression levels for a particular gene, across 44 human tissues by using combined analyses of whole genomes and multi-tissue RNA-sequencing data from the Genotype-Tissue Expression (GTEx) project v6p release. We find that 58% of underexpression and 28% of overexpression outliers have nearby conserved rare variants compared to 8% of non-outliers. Additionally, we developed RIVER (RNA-informed variant effect on regulation), a Bayesian statistical model that incorporates expression data to predict a regulatory effect for rare variants with higher accuracy than models using genomic annotations alone. Overall, we demonstrate that rare variants contribute to large gene expression changes across tissues and provide an integrative method for interpretation of rare variants in individual genomes.
Published: 2017

7. Reduction of NOx on metal-free hydrogenated hexagonal boron nitride.

Author: Payne, Anthony J. R., Xavier, Neubi F., and Sacchi, Marco
Published: 2024
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8. The Fiji effect : a review of trends in South Pacific politics

Author: Payne, Anthony J
Published: 1989

9. Grounding-line migration in plan-view marine ice-sheet models: results of the ice2sea MISMIP3d intercomparison

Author: Pattyn, Frank, Perichon, Laura, Durand, Gael, Favier, Lionel, Gagliardini, Olivier, Hindmarsh, Richard C.A., Zwinger, Thomas, Albrecht, Torsten, Cornford, Stephen, Docquier, David, Furst, Johannes J, Goldberg, Daniel, Gudmundsson, G. Hilmar, Humbert, Angelika, Hutten, Moritz, Huybrechts, Philippe, Jouvet, Guillaume, Kleiner, Thomas, Larour, Eric, Martin, Daniel, Morlighem, Mathieu, Payne, Anthony J, Pollard, David, Ruckamp, Martin, Rybak, Oleg, Seroussi, Helene, Thoma, Malte, and Wilkens, Nina
Subjects: boundary layer, computer simulation, error analysis, ice sheet, modeling, prediction, spatial variation, steady-state equilibrium
Abstract: Predictions of marine ice-sheet behaviour require models able to simulate grounding-line migration. We present results of an intercomparison experiment for plan-view marine ice-sheet models. Verification is effected by comparison with approximate analytical solutions for flux across the grounding line using simplified geometrical configurations (no lateral variations, no buttressing effects from lateral drag). Perturbation experiments specifying spatial variation in basal sliding parameters permitted the evolution of curved grounding lines, generating buttressing effects. The experiments showed regions of compression and extensional flow across the grounding line, thereby invalidating the boundary layer theory. Steady-state grounding-line positions were found to be dependent on the level of physical model approximation. Resolving grounding lines requires inclusion of membrane stresses, a sufficiently small grid size (
Published: 2013

10. Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

Author: Dwivedi, Om Prakash, Lehtovirta, Mikko, Hastoy, Benoit, Chandra, Vikash, Krentz, Nicole A. J., Kleiner, Sandra, Jain, Deepak, Richard, Ann-Marie, Abaitua, Fernando, Beer, Nicola L., Grotz, Antje, Prasad, Rashmi B., Hansson, Ola, Ahlqvist, Emma, Krus, Ulrika, Artner, Isabella, Suoranta, Anu, Gomez, Daniel, Baras, Aris, Champon, Benoite, Payne, Anthony J., Moralli, Daniela, Thomsen, Soren K., Kramer, Philipp, Spiliotis, Ioannis, Ramracheya, Reshma, Chabosseau, Pauline, Theodoulou, Andria, Cheung, Rebecca, van de Bunt, Martijn, Flannick, Jason, Trombetta, Maddalena, Bonora, Enzo, Wolheim, Claes B., Sarelin, Leena, Bonadonna, Riccardo C., Rorsman, Patrik, Davies, Benjamin, Brosnan, Julia, McCarthy, Mark I., Otonkoski, Timo, Lagerstedt, Jens O., Rutter, Guy A., Gromada, Jesper, Gloyn, Anna L., Tuomi, Tiinamaija, and Groop, Leif
Published: 2019
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11. Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Author: Mahajan, Anubha, Taliun, Daniel, Thurner, Matthias, Robertson, Neil R., Torres, Jason M., Rayner, N. William, Payne, Anthony J., Steinthorsdottir, Valgerdur, Scott, Robert A., Grarup, Niels, Cook, James P., Schmidt, Ellen M., Wuttke, Matthias, Sarnowski, Chloé, Mägi, Reedik, Nano, Jana, Gieger, Christian, Trompet, Stella, Lecoeur, Cécile, Preuss, Michael H., Prins, Bram Peter, Guo, Xiuqing, Bielak, Lawrence F., Below, Jennifer E., Bowden, Donald W., Chambers, John Campbell, Kim, Young Jin, Ng, Maggie C. Y., Petty, Lauren E., Sim, Xueling, Zhang, Weihua, Bennett, Amanda J., Bork-Jensen, Jette, Brummett, Chad M., Canouil, Mickaël, Ec kardt, Kai-Uwe, Fischer, Krista, Kardia, Sharon L. R., Kronenberg, Florian, Läll, Kristi, Liu, Ching-Ti, Locke, Adam E., Luan, Jian’an, Ntalla, Ioanna, Nylander, Vibe, Schönherr, Sebastian, Schurmann, Claudia, Yengo, Loïc, Bottinger, Erwin P., Brandslund, Ivan, Christensen, Cramer, Dedoussis, George, Florez, Jose C., Ford, Ian, Franco, Oscar H., Frayling, Timothy M., Giedraitis, Vilmantas, Hackinger, Sophie, Hattersley, Andrew T., Herder, Christian, Ikram, M. Arfan, Ingelsson, Martin, Jørgensen, Marit E., Jørgensen, Torben, Kriebel, Jennifer, Kuusisto, Johanna, Ligthart, Symen, Lindgren, Cecilia M., Linneberg, Allan, Lyssenko, Valeriya, Mamakou, Vasiliki, Meitinger, Thomas, Mohlke, Karen L., Morris, Andrew D., Nadkarni, Girish, Pankow, James S., Peters, Annette, Sattar, Naveed, Stančáková, Alena, Strauch, Konstantin, Taylor, Kent D., Thorand, Barbara, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tuomilehto, Jaakko, Witte, Daniel R., Dupuis, Josée, Peyser, Patricia A., Zeggini, Eleftheria, Loos, Ruth J. F., Froguel, Philippe, Ingelsson, Erik, Lind, Lars, Groop, Leif, Laakso, Markku, Collins, Francis S., Jukema, J. Wouter, Palmer, Colin N. A., Grallert, Harald, Metspalu, Andres, Dehghan, Abbas, Köttgen, Anna, Abecasis, Goncalo R., Meigs, James B., Rotter, Jerome I., Marchini, Jonathan, Pedersen, Oluf, Hansen, Torben, Langenberg, Claudia, Wareham, Nicholas J., Stefansson, Kari, Gloyn, Anna L., Morris, Andrew P., Boehnke, Michael, and McCarthy, Mark I.
Published: 2018
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12. Type 2 diabetes risk alleles in PAM impact insulin release from human pancreatic β-cells

Author: Thomsen, Soren K., Raimondo, Anne, Hastoy, Benoit, Sengupta, Shahana, Dai, Xiao-Qing, Bautista, Austin, Censin, Jenny, Payne, Anthony J., Umapathysivam, Mahesh M., Spigelman, Aliya F., Barrett, Amy, Groves, Christopher J., Beer, Nicola L., Manning Fox, Jocelyn E., McCarthy, Mark I., Clark, Anne, Mahajan, Anubha, Rorsman, Patrik, MacDonald, Patrick E., and Gloyn, Anna L.
Published: 2018
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13. Mass balance of the Greenland and Antarctic ice sheets from 1992 to 2020

Author: Otosaka, Inès N., primary, Shepherd, Andrew, additional, Ivins, Erik R., additional, Schlegel, Nicole-Jeanne, additional, Amory, Charles, additional, van den Broeke, Michiel R., additional, Horwath, Martin, additional, Joughin, Ian, additional, King, Michalea D., additional, Krinner, Gerhard, additional, Nowicki, Sophie, additional, Payne, Anthony J., additional, Rignot, Eric, additional, Scambos, Ted, additional, Simon, Karen M., additional, Smith, Benjamin E., additional, Sørensen, Louise S., additional, Velicogna, Isabella, additional, Whitehouse, Pippa L., additional, A, Geruo, additional, Agosta, Cécile, additional, Ahlstrøm, Andreas P., additional, Blazquez, Alejandro, additional, Colgan, William, additional, Engdahl, Marcus E., additional, Fettweis, Xavier, additional, Forsberg, Rene, additional, Gallée, Hubert, additional, Gardner, Alex, additional, Gilbert, Lin, additional, Gourmelen, Noel, additional, Groh, Andreas, additional, Gunter, Brian C., additional, Harig, Christopher, additional, Helm, Veit, additional, Khan, Shfaqat Abbas, additional, Kittel, Christoph, additional, Konrad, Hannes, additional, Langen, Peter L., additional, Lecavalier, Benoit S., additional, Liang, Chia-Chun, additional, Loomis, Bryant D., additional, McMillan, Malcolm, additional, Melini, Daniele, additional, Mernild, Sebastian H., additional, Mottram, Ruth, additional, Mouginot, Jeremie, additional, Nilsson, Johan, additional, Noël, Brice, additional, Pattle, Mark E., additional, Peltier, William R., additional, Pie, Nadege, additional, Roca, Mònica, additional, Sasgen, Ingo, additional, Save, Himanshu V., additional, Seo, Ki-Weon, additional, Scheuchl, Bernd, additional, Schrama, Ernst J. O., additional, Schröder, Ludwig, additional, Simonsen, Sebastian B., additional, Slater, Thomas, additional, Spada, Giorgio, additional, Sutterley, Tyler C., additional, Vishwakarma, Bramha Dutt, additional, van Wessem, Jan Melchior, additional, Wiese, David, additional, van der Wal, Wouter, additional, and Wouters, Bert, additional
Published: 2023
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14. Additional records of and notes on the unicoloured Thrush Turdus haplochrous, a little known Bolivian endemic

Author: White, Adam G, Brace, Robin C, Payne, Anthony J, and BioStor
Published: 1995

15. Mass balance of the Greenland and Antarctic ice sheets from 1992 to 2020

Author: Otosaka, Inès N., Shepherd, Andrew, Ivins, Erik R., Schlegel, Nicole Jeanne, Amory, Charles, Van Den Broeke, Michiel R., Horwath, Martin, Joughin, Ian, King, Michalea D., Krinner, Gerhard, Nowicki, Sophie, Payne, Anthony J., Rignot, Eric, Scambos, Ted, Simon, Karen M., Smith, Benjamin E., Sørensen, Louise S., Velicogna, Isabella, Whitehouse, Pippa L., Geruo, A., Agosta, Cécile, Ahlstrøm, Andreas P., Blazquez, Alejandro, Colgan, William, Engdahl, Marcus E., Fettweis, Xavier, Forsberg, Rene, Gallée, Hubert, Gardner, Alex, Gilbert, Lin, Gourmelen, Noel, Groh, Andreas, Gunter, Brian C., Harig, Christopher, Helm, Veit, Khan, Shfaqat Abbas, Kittel, Christoph, Konrad, Hannes, Langen, Peter L., Lecavalier, Benoit S., Liang, Chia Chun, Loomis, Bryant D., McMillan, Malcolm, Melini, Daniele, Mernild, Sebastian H., Mottram, Ruth, Mouginot, Jeremie, Nilsson, Johan, Noël, Brice, Pattle, Mark E., Peltier, William R., Pie, Nadege, Roca, Mònica, Sasgen, Ingo, Save, Himanshu V., Seo, Ki Weon, Scheuchl, Bernd, Schrama, Ernst J.O., Schröder, Ludwig, Simonsen, Sebastian B., Slater, Thomas, Spada, Giorgio, Sutterley, Tyler C., Vishwakarma, Bramha Dutt, Van Wessem, Jan Melchior, Wiese, David, Van Der Wal, Wouter, Wouters, Bert, Otosaka, Inès N., Shepherd, Andrew, Ivins, Erik R., Schlegel, Nicole Jeanne, Amory, Charles, Van Den Broeke, Michiel R., Horwath, Martin, Joughin, Ian, King, Michalea D., Krinner, Gerhard, Nowicki, Sophie, Payne, Anthony J., Rignot, Eric, Scambos, Ted, Simon, Karen M., Smith, Benjamin E., Sørensen, Louise S., Velicogna, Isabella, Whitehouse, Pippa L., Geruo, A., Agosta, Cécile, Ahlstrøm, Andreas P., Blazquez, Alejandro, Colgan, William, Engdahl, Marcus E., Fettweis, Xavier, Forsberg, Rene, Gallée, Hubert, Gardner, Alex, Gilbert, Lin, Gourmelen, Noel, Groh, Andreas, Gunter, Brian C., Harig, Christopher, Helm, Veit, Khan, Shfaqat Abbas, Kittel, Christoph, Konrad, Hannes, Langen, Peter L., Lecavalier, Benoit S., Liang, Chia Chun, Loomis, Bryant D., McMillan, Malcolm, Melini, Daniele, Mernild, Sebastian H., Mottram, Ruth, Mouginot, Jeremie, Nilsson, Johan, Noël, Brice, Pattle, Mark E., Peltier, William R., Pie, Nadege, Roca, Mònica, Sasgen, Ingo, Save, Himanshu V., Seo, Ki Weon, Scheuchl, Bernd, Schrama, Ernst J.O., Schröder, Ludwig, Simonsen, Sebastian B., Slater, Thomas, Spada, Giorgio, Sutterley, Tyler C., Vishwakarma, Bramha Dutt, Van Wessem, Jan Melchior, Wiese, David, Van Der Wal, Wouter, and Wouters, Bert
Abstract: Ice losses from the Greenland and Antarctic ice sheets have accelerated since the 1990s, accounting for a significant increase in the global mean sea level. Here, we present a new 29-year record of ice sheet mass balance from 1992 to 2020 from the Ice Sheet Mass Balance Inter-comparison Exercise (IMBIE). We compare and combine 50 independent estimates of ice sheet mass balance derived from satellite observations of temporal changes in ice sheet flow, in ice sheet volume, and in Earth's gravity field. Between 1992 and 2020, the ice sheets contributed 21.0±1.9g€¯mm to global mean sea level, with the rate of mass loss rising from 105g€¯Gtg€¯yr-1 between 1992 and 1996 to 372g€¯Gtg€¯yr-1 between 2016 and 2020. In Greenland, the rate of mass loss is 169±9g€¯Gtg€¯yr-1 between 1992 and 2020, but there are large inter-annual variations in mass balance, with mass loss ranging from 86g€¯Gtg€¯yr-1 in 2017 to 444g€¯Gtg€¯yr-1 in 2019 due to large variability in surface mass balance. In Antarctica, ice losses continue to be dominated by mass loss from West Antarctica (82±9g€¯Gtg€¯yr-1) and, to a lesser extent, from the Antarctic Peninsula (13±5g€¯Gtg€¯yr-1). East Antarctica remains close to a state of balance, with a small gain of 3±15g€¯Gtg€¯yr-1, but is the most uncertain component of Antarctica's mass balance. The dataset is publicly available at 10.5285/77B64C55-7166-4A06-9DEF-2E400398E452 (IMBIE Team, 2021).
Published: 2023

16. Mass balance of the Greenland and Antarctic ice sheets from 1992 to 2020

Author: Sub Dynamics Meteorology, Structural geology and EM, Marine and Atmospheric Research, Otosaka, Inès N., Shepherd, Andrew, Ivins, Erik R., Schlegel, Nicole Jeanne, Amory, Charles, Van Den Broeke, Michiel R., Horwath, Martin, Joughin, Ian, King, Michalea D., Krinner, Gerhard, Nowicki, Sophie, Payne, Anthony J., Rignot, Eric, Scambos, Ted, Simon, Karen M., Smith, Benjamin E., Sørensen, Louise S., Velicogna, Isabella, Whitehouse, Pippa L., Geruo, A., Agosta, Cécile, Ahlstrøm, Andreas P., Blazquez, Alejandro, Colgan, William, Engdahl, Marcus E., Fettweis, Xavier, Forsberg, Rene, Gallée, Hubert, Gardner, Alex, Gilbert, Lin, Gourmelen, Noel, Groh, Andreas, Gunter, Brian C., Harig, Christopher, Helm, Veit, Khan, Shfaqat Abbas, Kittel, Christoph, Konrad, Hannes, Langen, Peter L., Lecavalier, Benoit S., Liang, Chia Chun, Loomis, Bryant D., McMillan, Malcolm, Melini, Daniele, Mernild, Sebastian H., Mottram, Ruth, Mouginot, Jeremie, Nilsson, Johan, Noël, Brice, Pattle, Mark E., Peltier, William R., Pie, Nadege, Roca, Mònica, Sasgen, Ingo, Save, Himanshu V., Seo, Ki Weon, Scheuchl, Bernd, Schrama, Ernst J.O., Schröder, Ludwig, Simonsen, Sebastian B., Slater, Thomas, Spada, Giorgio, Sutterley, Tyler C., Vishwakarma, Bramha Dutt, Van Wessem, Jan Melchior, Wiese, David, Van Der Wal, Wouter, Wouters, Bert, Sub Dynamics Meteorology, Structural geology and EM, Marine and Atmospheric Research, Otosaka, Inès N., Shepherd, Andrew, Ivins, Erik R., Schlegel, Nicole Jeanne, Amory, Charles, Van Den Broeke, Michiel R., Horwath, Martin, Joughin, Ian, King, Michalea D., Krinner, Gerhard, Nowicki, Sophie, Payne, Anthony J., Rignot, Eric, Scambos, Ted, Simon, Karen M., Smith, Benjamin E., Sørensen, Louise S., Velicogna, Isabella, Whitehouse, Pippa L., Geruo, A., Agosta, Cécile, Ahlstrøm, Andreas P., Blazquez, Alejandro, Colgan, William, Engdahl, Marcus E., Fettweis, Xavier, Forsberg, Rene, Gallée, Hubert, Gardner, Alex, Gilbert, Lin, Gourmelen, Noel, Groh, Andreas, Gunter, Brian C., Harig, Christopher, Helm, Veit, Khan, Shfaqat Abbas, Kittel, Christoph, Konrad, Hannes, Langen, Peter L., Lecavalier, Benoit S., Liang, Chia Chun, Loomis, Bryant D., McMillan, Malcolm, Melini, Daniele, Mernild, Sebastian H., Mottram, Ruth, Mouginot, Jeremie, Nilsson, Johan, Noël, Brice, Pattle, Mark E., Peltier, William R., Pie, Nadege, Roca, Mònica, Sasgen, Ingo, Save, Himanshu V., Seo, Ki Weon, Scheuchl, Bernd, Schrama, Ernst J.O., Schröder, Ludwig, Simonsen, Sebastian B., Slater, Thomas, Spada, Giorgio, Sutterley, Tyler C., Vishwakarma, Bramha Dutt, Van Wessem, Jan Melchior, Wiese, David, Van Der Wal, Wouter, and Wouters, Bert
Published: 2023

17. Reduction of NOxon metal-free hydrogenated hexagonal boron nitrideElectronic supplementary information (ESI) available. See DOI: https://doi.org/10.1039/d4cy00206g

Author: Payne, Anthony J. R., Xavier, Neubi F., and Sacchi, Marco
Abstract: Sustainable catalysts are essential for critical industrial and environmental processes. 2D materials have exceptional surface area and unique thermal and electronic properties, making them excellent candidates for catalytic applications. Moreover, 2D materials can be functionalised to create metal-free active sites, which provide sustainable alternatives to transition and precious metals. Among the pollutants emitted by combustion engines, NOxstands out as one of the most detrimental gases, contributing to environmental pollution and posing risks to human health. We demonstrate that functionalised defects in hexagonal boron nitride (hBN) provide a thermodynamically viable route to removing NOxby reaction with a hydrogenated boron vacancy (3HVB). The decomposition of NO2proceeds by initially overcoming an activation energy barrier of 1.12 eV to transfer a hydrogen atom from the surface, forming a NO2H species, followed by the elimination of a water molecule. A thermodynamically favourable product consisting of a surface-bound hydroxyl adjacent to a nitrogen antisite defect (where a nitrogen atom occupies a site typically occupied by a boron atom) forms after overcoming an energy barrier of 1.28 eV. NO can further decompose by overcoming an activation energy barrier of 2.23 eV to form a surface HNO species. A rearrangement of the HNO species takes place with an activation energy of 1.96 eV, followed by the elimination of water. The overall reactions reduce NOxinto defective hBN and H2O.
Published: 2024
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18. The impact of rare variation on gene expression across tissues

Author: Li, Xin, Kim, Yungil, Tsang, Emily K., Davis, Joe R., Damani, Farhan N., Chiang, Colby, Hess, Gaelen T., Zappala, Zachary, Strober, Benjamin J., Scott, Alexandra J., Li, Amy, Ganna, Andrea, Bassik, Michael C., Merker, Jason D., Aguet, Franois, Ardlie, Kristin G., Cummings, Beryl B., Gelfand, Ellen T., Getz, Gad, Hadley, Kane, Handsaker, Robert E., Huang, Katherine H., Kashin, Seva, Karczewski, Konrad J., Lek, Monkol, Li, Xiao, MacArthur, Daniel G., Nedzel, Jared L., Nguyen, Duyen T., Noble, Michael S., Segr, Ayellet V., Trowbridge, Casandra A., Tukiainen, Taru, Abell, Nathan S., Balliu, Brunilda, Barshir, Ruth, Basha, Omer, Battle, Alexis, Bogu, Gireesh K., Brown, Andrew, Brown, Christopher D., Castel, Stephane E., Chen, Lin S., Conrad, Donald F., Cox, Nancy J., Delaneau, Olivier, Dermitzakis, Emmanouil T., Engelhardt, Barbara E., Eskin, Eleazar, Ferreira, Pedro G., Frsard, Laure, Gamazon, Eric R., Garrido-Martn, Diego, Gewirtz, Ariel D.H., Gliner, Genna, Gloudemans, Michael J., Guigo, Roderic, Hall, Ira M., Han, Buhm, He, Yuan, Hormozdiari, Farhad, Howald, Cedric, Kyung Im, Hae, Jo, Brian, Yong Kang, Eun, Kim-Hellmuth, Sarah, Lappalainen, Tuuli, Li, Gen, Liu, Boxiang, Mangul, Serghei, McCarthy, Mark I., McDowell, Ian C., Mohammadi, Pejman, Monlong, Jean, Montgomery, Stephen B., Muoz-Aguirre, Manuel, Ndungu, Anne W., Nicolae, Dan L., Nobel, Andrew B., Oliva, Meritxell, Ongen, Halit, Palowitch, John J., Panousis, Nikolaos, Papasaikas, Panagiotis, Park, YoSon, Parsana, Princy, Payne, Anthony J., Peterson, Christine B., Quan, Jie, Reverter, Ferran, Sabatti, Chiara, Saha, Ashis, Sammeth, Michael, Shabalin, Andrey A., Sodaei, Reza, Stephens, Matthew, Stranger, Barbara E., Sul, Jae Hoon, Urbut, Sarah, van de Bunt, Martijn, Wang, Gao, Wen, Xiaoquan, Wright, Fred A., Xi, Hualin S., Yeger-Lotem, Esti, Zaugg, Judith B., Zhou, Yi-Hui, Akey, Joshua M., Bates, Daniel, Chan, Joanne, Claussnitzer, Melina, Demanelis, Kathryn, Diegel, Morgan, Doherty, Jennifer A., Feinberg, Andrew P., Fernando, Marian S., Halow, Jessica, Hansen, Kasper D., Haugen, Eric, Hickey, Peter F., Hou, Lei, Jasmine, Farzana, Jian, Ruiqi, Jiang, Lihua, Johnson, Audra, Kaul, Rajinder, Kellis, Manolis, Kibriya, Muhammad G., Lee, Kristen, Billy Li, Jin, Li, Qin, Lin, Jessica, Lin, Shin, Linder, Sandra, Linke, Caroline, Liu, Yaping, Maurano, Matthew T., Molinie, Benoit, Nelson, Jemma, Neri, Fidencio J., Park, Yongjin, Pierce, Brandon L., Rinaldi, Nicola J., Rizzardi, Lindsay F., Sandstrom, Richard, Skol, Andrew, Smith, Kevin S., Snyder, Michael P., Stamatoyannopoulos, John, Tang, Hua, Wang, Li, Wang, Meng, Van Wittenberghe, Nicholas, Wu, Fan, Zhang, Rui, Nierras, Concepcion R., Branton, Philip A., Carithers, Latarsha J., Guan, Ping, Moore, Helen M., Rao, Abhi, Vaught, Jimmie B., Gould, Sarah E., Lockart, Nicole C., Martin, Casey, Struewing, Jeffery P., Volpi, Simona, Addington, Anjene M., Koester, Susan E., Little, A. Roger, Brigham, Lori E., Hasz, Richard, Hunter, Marcus, Johns, Christopher, Johnson, Mark, Kopen, Gene, Leinweber, William F., Lonsdale, John T., McDonald, Alisa, Mestichelli, Bernadette, Myer, Kevin, Roe, Brian, Salvatore, Michael, Shad, Saboor, Thomas, Jeffrey A., Walters, Gary, Washington, Michael, Wheeler, Joseph, Bridge, Jason, Foster, Barbara A., Gillard, Bryan M., Karasik, Ellen, Kumar, Rachna, Miklos, Mark, Moser, Michael T., Jewell, Scott D., Montroy, Robert G., Rohrer, Daniel C., Valley, Dana R., Davis, David A., Mash, Deborah C., Undale, Anita H., Smith, Anna M., Tabor, David E., Roche, Nancy V., McLean, Jeffrey A., Vatanian, Negin, Robinson, Karna L., Sobin, Leslie, Barcus, Mary E., Valentino, Kimberly M., Qi, Liqun, Hunter, Steven, Hariharan, Pushpa, Singh, Shilpi, Um, Ki Sung, Matose, Takunda, Tomaszewski, Maria M., Barker, Laura K., Mosavel, Maghboeba, Siminoff, Laura A., Traino, Heather M., Flicek, Paul, Juettemann, Thomas, Ruffier, Magali, Sheppard, Dan, Taylor, Kieron, Trevanion, Stephen J., Zerbino, Daniel R., Craft, Brian, Goldman, Mary, Haeussler, Maximilian, Kent, W. James, Lee, Christopher M., Paten, Benedict, Rosenbloom, Kate R., Vivian, John, and Zhu, Jingchun
Subjects: Disease susceptibility -- Genetic aspects, Genetic variation -- Observations, Gene expression -- Observations, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract: Author(s): Xin Li [1]; Yungil Kim [2]; Emily K. Tsang [1, 3]; Joe R. Davis [1, 4]; Farhan N. Damani [2]; Colby Chiang [5]; Gaelen T. Hess [4]; Zachary Zappala [...]
Published: 2017
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19. Dynamic landscape and regulation of RNA editing in mammals

Author: Tan, Meng How, Li, Qin, Shanmugam, Raghuvaran, Piskol, Robert, Kohler, Jennefer, Young, Amy N., Liu, Kaiwen Ivy, Zhang, Rui, Ramaswami, Gokul, Ariyoshi, Kentaro, Gupte, Ankita, Keegan, Liam P., George, Cyril X., Ramu, Avinash, Huang, Ni, Pollina, Elizabeth A., Leeman, Dena S., Rustighi, Alessandra, Goh, Y. P. Sharon, Aguet, Franois, Ardlie, Kristin G., Cummings, Beryl B., Gelfand, Ellen T., Getz, Gad, Hadley, Kane, Handsaker, Robert E., Huang, Katherine H., Kashin, Seva, Karczewski, Konrad J., Lek, Monkol, Li, Xiao, MacArthur, Daniel G., Nedzel, Jared L., Nguyen, Duyen T., Noble, Michael S., Segr, Ayellet V., Trowbridge, Casandra A., Tukiainen, Taru, Abell, Nathan S., Balliu, Brunilda, Barshir, Ruth, Basha, Omer, Battle, Alexis, Bogu, Gireesh K., Brown, Andrew, Brown, Christopher D., Castel, Stephane E., Chen, Lin S., Chiang, Colby, Conrad, Donald F., Cox, Nancy J., Damani, Farhan N., Davis, Joe R., Delaneau, Olivier, Dermitzakis, Emmanouil T., Engelhardt, Barbara E., Eskin, Eleazar, Ferreira, Pedro G., Frsard, Laure, Gamazon, Eric R., Garrido-Martn, Diego, Gewirtz, Ariel D. H., Gliner, Genna, Gloudemans, Michael J., Guigo, Roderic, Hall, Ira M., Han, Buhm, He, Yuan, Hormozdiari, Farhad, Howald, Cedric, Kyung Im, Hae, Jo, Brian, Yong Kang, Eun, Kim, Yungil, Kim-Hellmuth, Sarah, Lappalainen, Tuuli, Li, Gen, Li, Xin, Liu, Boxiang, Mangul, Serghei, McCarthy, Mark I., McDowell, Ian C., Mohammadi, Pejman, Monlong, Jean, Montgomery, Stephen B., Muoz-Aguirre, Manuel, Ndungu, Anne W., Nicolae, Dan L., Nobel, Andrew B., Oliva, Meritxell, Ongen, Halit, Palowitch, John J., Panousis, Nikolaos, Papasaikas, Panagiotis, Park, YoSon, Parsana, Princy, Payne, Anthony J., Peterson, Christine B., Quan, Jie, Reverter, Ferran, Sabatti, Chiara, Saha, Ashis, Sammeth, Michael, Scott, Alexandra J., Shabalin, Andrey A., Sodaei, Reza, Stephens, Matthew, Stranger, Barbara E., Strober, Benjamin J., Sul, Jae Hoon, Tsang, Emily K., Urbut, Sarah, van de Bunt, Martijn, Wang, Gao, Wen, Xiaoquan, Wright, Fred A., Xi, Hualin S., Yeger-Lotem, Esti, Zappala, Zachary, Zaugg, Judith B., Zhou, Yi-Hui, Akey, Joshua M., Bates, Daniel, Chan, Joanne, Claussnitzer, Melina, Demanelis, Kathryn, Diegel, Morgan, Doherty, Jennifer A., Feinberg, Andrew P., Fernando, Marian S., Halow, Jessica, Hansen, Kasper D., Haugen, Eric, Hickey, Peter F., Hou, Lei, Jasmine, Farzana, Jian, Ruiqi, Jiang, Lihua, Johnson, Audra, Kaul, Rajinder, Kellis, Manolis, Kibriya, Muhammad G., Lee, Kristen, Li, Jin Billy, Lin, Jessica, Lin, Shin, Linder, Sandra, Linke, Caroline, Liu, Yaping, Maurano, Matthew T., Molinie, Benoit, Nelson, Jemma, Neri, Fidencio J., Park, Yongjin, Pierce, Brandon L., Rinaldi, Nicola J., Rizzardi, Lindsay F., Sandstrom, Richard, Skol, Andrew, Smith, Kevin S., Snyder, Michael P., Stamatoyannopoulos, John, Tang, Hua, Wang, Li, Wang, Meng, Van Wittenberghe, Nicholas, Wu, Fan, Nierras, Concepcion R., Branton, Philip A., Carithers, Latarsha J., Guan, Ping, Moore, Helen M., Rao, Abhi, Vaught, Jimmie B., Gould, Sarah E., Lockart, Nicole C., Martin, Casey, Struewing, Jeffery P., Volpi, Simona, Addington, Anjene M., Koester, Susan E., Little, A. Roger, Brigham, Lori E., Hasz, Richard, Hunter, Marcus, Johns, Christopher, Johnson, Mark, Kopen, Gene, Leinweber, William F., Lonsdale, John T., McDonald, Alisa, Mestichelli, Bernadette, Myer, Kevin, Roe, Brian, Salvatore, Michael, Shad, Saboor, Thomas, Jeffrey A., Walters, Gary, Washington, Michael, Wheeler, Joseph, Bridge, Jason, Foster, Barbara A., Gillard, Bryan M., Karasik, Ellen, Kumar, Rachna, Miklos, Mark, Moser, Michael T., Jewell, Scott D., Montroy, Robert G., Rohrer, Daniel C., Valley, Dana R., Davis, David A., Mash, Deborah C., Undale, Anita H., Smith, Anna M., Tabor, David E., Roche, Nancy V., McLean, Jeffrey A., Vatanian, Negin, Robinson, Karna L., Sobin, Leslie, Barcus, Mary E., Valentino, Kimberly M., Qi, Liqun, Hunter, Steven, Hariharan, Pushpa, Singh, Shilpi, Um, Ki Sung, Matose, Takunda, Tomaszewski, Maria M., Barker, Laura K., Mosavel, Maghboeba, Siminoff, Laura A., Traino, Heather M., Flicek, Paul, Juettemann, Thomas, Ruffier, Magali, Sheppard, Dan, Taylor, Kieron, Trevanion, Stephen J., Zerbino, Daniel R., Craft, Brian, Goldman, Mary, Haeussler, Maximilian, Kent, W. James, Lee, Christopher M., Paten, Benedict, Rosenbloom, Kate R., Vivian, John, Zhu, Jingchun, Chawla, Ajay, Del Sal, Giannino, Peltz, Gary, Brunet, Anne, Samuel, Charles E., OConnell, Mary A., Walkley, Carl R., and Nishikura, Kazuko
Subjects: Genetic research, Mammals -- Genetic aspects, RNA processing -- Research, Genetic regulation, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract: Author(s): Meng How Tan (corresponding author) [1, 2, 3]; Qin Li [1]; Raghuvaran Shanmugam [2, 3]; Robert Piskol [1]; Jennefer Kohler [1]; Amy N. Young [1]; Kaiwen Ivy Liu [3]; [...]
Published: 2017
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20. Landscape of X chromosome inactivation across human tissues

Author: Tukiainen, Taru, Villani, Alexandra-Chlo, Yen, Angela, Rivas, Manuel A., Marshall, Jamie L., Satija, Rahul, Aguirre, Matt, Gauthier, Laura, Fleharty, Mark, Kirby, Andrew, Cummings, Beryl B., Castel, Stephane E., Karczewski, Konrad J., Aguet, Franois, Byrnes, Andrea, Ardlie, Kristin G., Gelfand, Ellen T., Getz, Gad, Hadley, Kane, Handsaker, Robert E., Huang, Katherine H., Kashin, Seva, Lek, Monkol, Li, Xiao, MacArthur, Daniel G., Nedzel, Jared L., Nguyen, Duyen T., Noble, Michael S., Segr, Ayellet V., Trowbridge, Casandra A., Abell, Nathan S., Balliu, Brunilda, Barshir, Ruth, Basha, Omer, Battle, Alexis, Bogu, Gireesh K., Brown, Andrew, Brown, Christopher D., Chen, Lin S., Chiang, Colby, Conrad, Donald F., Cox, Nancy J., Damani, Farhan N., Davis, Joe R., Delaneau, Olivier, Dermitzakis, Emmanouil T., Engelhardt, Barbara E., Eskin, Eleazar, Ferreira, Pedro G., Frsard, Laure, Gamazon, Eric R., Garrido-Martn, Diego, Gewirtz, Ariel D. H., Gliner, Genna, Gloudemans, Michael J., Guigo, Roderic, Hall, Ira M., Han, Buhm, He, Yuan, Hormozdiari, Farhad, Howald, Cedric, Kyung Im, Hae, Jo, Brian, Yong Kang, Eun, Kim, Yungil, Kim-Hellmuth, Sarah, Lappalainen, Tuuli, Li, Gen, Li, Xin, Liu, Boxiang, Mangul, Serghei, McCarthy, Mark I., McDowell, Ian C., Mohammadi, Pejman, Monlong, Jean, Montgomery, Stephen B., Muoz-Aguirre, Manuel, Ndungu, Anne W., Nicolae, Dan L., Nobel, Andrew B., Oliva, Meritxell, Ongen, Halit, Palowitch, John J., Panousis, Nikolaos, Papasaikas, Panagiotis, Park, YoSon, Parsana, Princy, Payne, Anthony J., Peterson, Christine B., Quan, Jie, Reverter, Ferran, Sabatti, Chiara, Saha, Ashis, Sammeth, Michael, Scott, Alexandra J., Shabalin, Andrey A., Sodaei, Reza, Stephens, Matthew, Stranger, Barbara E., Strober, Benjamin J., Sul, Jae Hoon, Tsang, Emily K., Urbut, Sarah, van de Bunt, Martijn, Wang, Gao, Wen, Xiaoquan, Wright, Fred A., Xi, Hualin S., Yeger-Lotem, Esti, Zappala, Zachary, Zaugg, Judith B., Zhou, Yi-Hui, Akey, Joshua M., Bates, Daniel, Chan, Joanne, Claussnitzer, Melina, Demanelis, Kathryn, Diegel, Morgan, Doherty, Jennifer A., Feinberg, Andrew P., Fernando, Marian S., Halow, Jessica, Hansen, Kasper D., Haugen, Eric, Hickey, Peter F., Hou, Lei, Jasmine, Farzana, Jian, Ruiqi, Jiang, Lihua, Johnson, Audra, Kaul, Rajinder, Kellis, Manolis, Kibriya, Muhammad G., Lee, Kristen, Li, Jin Billy, Li, Qin, Lin, Jessica, Lin, Shin, Linder, Sandra, Linke, Caroline, Liu, Yaping, Maurano, Matthew T., Molinie, Benoit, Nelson, Jemma, Neri, Fidencio J., Park, Yongjin, Pierce, Brandon L., Rinaldi, Nicola J., Rizzardi, Lindsay F., Sandstrom, Richard, Skol, Andrew, Smith, Kevin S., Snyder, Michael P., Stamatoyannopoulos, John, Tang, Hua, Wang, Li, Wang, Meng, Van Wittenberghe, Nicholas, Wu, Fan, Zhang, Rui, Nierras, Concepcion R., Branton, Philip A., Carithers, Latarsha J., Guan, Ping, Moore, Helen M., Rao, Abhi, Vaught, Jimmie B., Gould, Sarah E., Lockart, Nicole C., Martin, Casey, Struewing, Jeffery P., Volpi, Simona, Addington, Anjene M., Koester, Susan E., Little, A. Roger, Brigham, Lori E., Hasz, Richard, Hunter, Marcus, Johns, Christopher, Johnson, Mark, Kopen, Gene, Leinweber, William F., Lonsdale, John T., McDonald, Alisa, Mestichelli, Bernadette, Myer, Kevin, Roe, Brian, Salvatore, Michael, Shad, Saboor, Thomas, Jeffrey A., Walters, Gary, Washington, Michael, Wheeler, Joseph, Bridge, Jason, Foster, Barbara A., Gillard, Bryan M., Karasik, Ellen, Kumar, Rachna, Miklos, Mark, Moser, Michael T., Jewell, Scott D., Montroy, Robert G., Rohrer, Daniel C., Valley, Dana R., Davis, David A., Mash, Deborah C., Undale, Anita H., Smith, Anna M., Tabor, David E., Roche, Nancy V., McLean, Jeffrey A., Vatanian, Negin, Robinson, Karna L., Sobin, Leslie, Barcus, Mary E., Valentino, Kimberly M., Qi, Liqun, Hunter, Steven, Hariharan, Pushpa, Singh, Shilpi, Um, Ki Sung, Matose, Takunda, Tomaszewski, Maria M., Barker, Laura K., Mosavel, Maghboeba, Siminoff, Laura A., Traino, Heather M., Flicek, Paul, Juettemann, Thomas, Ruffier, Magali, Sheppard, Dan, Taylor, Kieron, Trevanion, Stephen J., Zerbino, Daniel R., Craft, Brian, Goldman, Mary, Haeussler, Maximilian, Kent, W. James, Lee, Christopher M., Paten, Benedict, Rosenbloom, Kate R., Vivian, John, Zhu, Jingchun, Regev, Aviv, and Hacohen, Nir
Subjects: Chromosomes -- Physiological aspects, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract: Author(s): Taru Tukiainen (corresponding author) [1, 2]; Alexandra-Chlo Villani [2, 3]; Angela Yen [2, 4]; Manuel A. Rivas [1, 2, 5]; Jamie L. Marshall [1, 2]; Rahul Satija [2, 6, [...]
Published: 2017
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21. initMIP-Antarctica: an Ice Sheet Model Initialization Experiment of ISMIP6

Author: Seroussi, Helene, Nowicki, Sophie, Simon, Erika, Abe-Ouchi, Ayako, Albrecht, Torsten, Brondex, Julien, Cornford, Stephen, Dumas, Christophe, Gillet-Chaulet, Fabien, Goelzer, Heiko, Golledge, Nicholas R, Gregory, Jonathan M, Greve, Ralf, Hoffman, Matthew J, Humbert, Angelika, Huybrechts, Philippe, Kleiner, Thomas, Larour, Eric, Leguy, Gunter, Lipscomb, William H, Lowry, Daniel, Mengel, Matthias, Morlighem, Mathieu, Pattyn, Frank, Payne, Anthony J, Pollard, David, Price, Stephen F, Quiquet, Aurélien, Reerink, Thomas J, Reese, Ronja, Rodehacke, Christian B, Schlegel, Nicole-Jeanne, Shepherd, Andrew, Sun, Sainan, Sutter, Johannes, Breedam, Jonas Van, Wal, Roderik S. W. van de, Winkelmann, Ricarda, and Zhang, Tong
Subjects: Geosciences (General)
Abstract: Ice sheet numerical modeling is an important tool to estimate the dynamic contribution of the Antarctic ice sheet to sea level rise over the coming centuries. The influence of initial conditions on ice sheet model simulations, however, is still unclear. To better understand this influence, an initial state intercomparison exercise (initMIP) has been developed to compare, evaluate, and improve initialization procedures and estimate their impact on century-scale simulations. initMIP is the first set of experiments of the Ice Sheet Model Intercomparison Project for CMIP6 (ISMIP6), which is the primary Coupled Model Intercomparison Project Phase 6 (CMIP6) activity focusing on the Greenland and Antarctic ice sheets. Following initMIP-Greenland, initMIP-Antarctica has been designed to explore uncertainties associated with model initialization and spin-up and to evaluate the impact of changes in external forcings. Starting from the state of the Antarctic ice sheet at the end of the initialization procedure, three forward experiments are each run for 100 years: a control run, a run with a surface mass balance anomaly, and a run with a basal melting anomaly beneath floating ice. This study presents the results of initMIP-Antarctica from 25 simulations performed by 16 international modeling groups. The submitted results use different initial conditions and initialization methods, as well as ice flow model parameters and reference external forcings. We find a good agreement among model responses to the surface mass balance anomaly but large variations in responses to the basal melting anomaly. These variations can be attributed to differences in the extent of ice shelves and their upstream tributaries, the numerical treatment of grounding line, and the initial ocean conditions applied, suggesting that ongoing efforts to better represent ice shelves in continental-scale models should continue.
Published: 2019
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22. Recent Progress in Understanding and Projecting Regional and Global Mean Sea Level Change

Author: Clark, Peter U., Church, John A., Gregory, Jonathan M., and Payne, Anthony J.
Published: 2015
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23. Genetic effects on gene expression across human tissues

Author: Aguet, François, Ardlie, Kristin G., Cummings, Beryl B., Gelfand, Ellen T., Getz, Gad, Hadley, Kane, Handsaker, Robert E., Huang, Katherine H., Kashin, Seva, Karczewski, Konrad J., Lek, Monkol, Li, Xiao, MacArthur, Daniel G., Nedzel, Jared L., Nguyen, Duyen T., Noble, Michael S., Segrè, Ayellet V., Trowbridge, Casandra A., Tukiainen, Taru, Abell, Nathan S., Balliu, Brunilda, Barshir, Ruth, Basha, Omer, Battle, Alexis, Bogu, Gireesh K., Brown, Andrew, Brown, Christopher D., Castel, Stephane E., Chen, Lin S., Chiang, Colby, Conrad, Donald F., Cox, Nancy J., Damani, Farhan N., Davis, Joe R., Delaneau, Olivier, Dermitzakis, Emmanouil T., Engelhardt, Barbara E., Eskin, Eleazar, Ferreira, Pedro G., Frésard, Laure, Gamazon, Eric R., Garrido-Martín, Diego, Gewirtz, Ariel D.H., Gliner, Genna, Gloudemans, Michael J., Guigo, Roderic, Hall, Ira M., Han, Buhm, He, Yuan, Hormozdiari, Farhad, Howald, Cedric, Im, Hae Kyung, Jo, Brian, Kang, Eun Yong, Kim, Yungil, Kim-Hellmuth, Sarah, Lappalainen, Tuuli, Li, Gen, Li, Xin, Liu, Boxiang, Mangul, Serghei, McCarthy, Mark I., McDowell, Ian C., Mohammadi, Pejman, Monlong, Jean, Montgomery, Stephen B., Muñoz-Aguirre, Manuel, Ndungu, Anne W., Nicolae, Dan L., Nobel, Andrew B., Oliva, Meritxell, Ongen, Halit, Palowitch, John J., Panousis, Nikolaos, Papasaikas, Panagiotis, Park, YoSon, Parsana, Princy, Payne, Anthony J., Peterson, Christine B., Quan, Jie, Reverter, Ferran, Sabatti, Chiara, Saha, Ashis, Sammeth, Michael, Scott, Alexandra J., Shabalin, Andrey A., Sodaei, Reza, Stephens, Matthew, Stranger, Barbara E., Strober, Benjamin J., Sul, Jae Hoon, Tsang, Emily K., Urbut, Sarah, van de Bunt, Martijn, Wang, Gao, Wen, Xiaoquan, Wright, Fred A., Xi, Hualin S., Yeger-Lotem, Esti, Zappala, Zachary, Zaugg, Judith B., Zhou, Yi-Hui, Akey, Joshua M., Bates, Daniel, Chan, Joanne, Claussnitzer, Melina, Demanelis, Kathryn, Diegel, Morgan, Doherty, Jennifer A., Feinberg, Andrew P., Fernando, Marian S., Halow, Jessica, Hansen, Kasper D., Haugen, Eric, Hickey, Peter F., Hou, Lei, Jasmine, Farzana, Jian, Ruiqi, Jiang, Lihua, Johnson, Audra, Kaul, Rajinder, Kellis, Manolis, Kibriya, Muhammad G., Lee, Kristen, Li, Jin Billy, Li, Qin, Lin, Jessica, Lin, Shin, Linder, Sandra, Linke, Caroline, Liu, Yaping, Maurano, Matthew T., Molinie, Benoit, Nelson, Jemma, Neri, Fidencio J., Park, Yongjin, Pierce, Brandon L., Rinaldi, Nicola J., Rizzardi, Lindsay F., Sandstrom, Richard, Skol, Andrew, Smith, Kevin S., Snyder, Michael P., Stamatoyannopoulos, John, Tang, Hua, Wang, Li, Wang, Meng, Van Wittenberghe, Nicholas, Wu, Fan, Zhang, Rui, Nierras, Concepcion R., Branton, Philip A., Carithers, Latarsha J., Guan, Ping, Moore, Helen M., Rao, Abhi, Vaught, Jimmie B., Gould, Sarah E., Lockart, Nicole C., Martin, Casey, Struewing, Jeffery P., Volpi, Simona, Addington, Anjene M., Koester, Susan E., Little, Roger A., Brigham, Lori E., Hasz, Richard, Hunter, Marcus, Johns, Christopher, Johnson, Mark, Kopen, Gene, Leinweber, William F., Lonsdale, John T., McDonald, Alisa, Mestichelli, Bernadette, Myer, Kevin, Roe, Brian, Salvatore, Michael, Shad, Saboor, Thomas, Jeffrey A., Walters, Gary, Washington, Michael, Wheeler, Joseph, Bridge, Jason, Foster, Barbara A., Gillard, Bryan M., Karasik, Ellen, Kumar, Rachna, Miklos, Mark, Moser, Michael T., Jewell, Scott D., Montroy, Robert G., Rohrer, Daniel C., Valley, Dana R., Davis, David A., Mash, Deborah C., Undale, Anita H., Smith, Anna M., Tabor, David E., Roche, Nancy V., McLean, Jeffrey A., Vatanian, Negin, Robinson, Karna L., Sobin, Leslie, Barcus, Mary E., Valentino, Kimberly M., Qi, Liqun, Hunter, Steven, Hariharan, Pushpa, Singh, Shilpi, Um, Ki Sung, Matose, Takunda, Tomaszewski, Maria M., Barker, Laura K., Mosavel, Maghboeba, Siminoff, Laura A., Traino, Heather M., Flicek, Paul, Juettemann, Thomas, Ruffier, Magali, Sheppard, Dan, Taylor, Kieron, Trevanion, Stephen J., Zerbino, Daniel R., Craft, Brian, Goldman, Mary, Haeussler, Maximilian, Kent, James W., Lee, Christopher M., Paten, Benedict, Rosenbloom, Kate R., Vivian, John, Zhu, Jingchun, Brown, Andrew A., Nguyen, Duyen Y., Sullivan, Timothy J., Addington, Anjene, Koester, Susan, Lockhart, Nicole C., Roe, Bryan, Valley, Dana, Gewirtz, Ariel D. H., He, Amy Z., Quon, Gerald, Ripke, Stephan, Shimko, Tyler C., Teran, Nicole A., Zhang, Hailei, Bustamante, Carlos D., and Guigó, Roderic
Published: 2017
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24. The Commonwealth Caribbean in the New World Order: Between Europe and North America?

Author: Payne, Anthony J. and Sutton, Paul K.
Published: 1992
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25. The Belize Triangle: Relations with Britain, Guatemala and the United States

Author: Payne, Anthony J.
Published: 1990
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26. Orthodox Liberal Development in Jamaica: Theory and Practice

Author: Payne, Anthony J.
Published: 1988

27. Dehydrogenation of ammonia on free-standing and epitaxial hexagonal boron nitride.

Author: Payne, Anthony J. R., Xavier, Neubi F., Bauerfeldt, Glauco F., and Sacchi, Marco
Abstract: We report a thermodynamically feasible mechanism for producing H2 from NH3 using hBN as a catalyst. 2D catalysts have exceptional surface areas with unique thermal and electronic properties suited for catalysis. Metal-free, 2D catalysts, are highly desirable materials that can be more sustainable than the ubiquitously employed precious and transition metal-based catalysts. Here, using density functional theory (DFT) calculations, we demonstrate that metal-free hexagonal boron nitride (hBN) is a valid alternative to precious metal catalysts for producing H2via reaction of ammonia with a boron and nitrogen divacancy (VBN). Our results show that the decomposition of ammonia proceeds on monolayer hBN with an activation energy barrier of 0.52 eV. Furthermore, the reaction of ammonia with epitaxially grown hBN on a Ru(0001) substrate was investigated, and we observed similar NH3 decomposition energy barriers (0.61 eV), but a much more facile H2 associative desorption barrier (0.69 eV vs 5.89 eV). H2 generation from the free-standing monolayer would instead occur through a diffusion process with an energy barrier of 3.36 eV. A detailed analysis of the electron density and charge distribution along the reaction pathways was carried out to rationalise the substrate effects on the catalytic reaction. [ABSTRACT FROM AUTHOR]
Published: 2022
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28. Experimental protocol for sea level projections from ISMIP6 stand-alone ice sheet models

Author: Nowicki, Sophie, Goelzer, Heiko, Seroussi, Hélène, Payne, Anthony J., Lipscomb, William H., Abe-Ouchi, Ayako, Agosta, Cécile, Alexander, Patrick, Asay-Davis, Xylar S., Barthel, Alice, Bracegirdle, Thomas J., Cullather, Richard, Felikson, Denis, Fettweis, Xavier, Gregory, Jonathan M., Hattermann, Tore, Jourdain, Nicolas C., Kuipers Munneke, Peter, Larour, Eric, Little, Christopher M., Morlighem, Mathieu, Nias, Isabel, Shepherd, Andrew, Simon, Erika, Slater, Donald, Smith, Robin S., Straneo, Fiammetta, Trusel, Luke D., Van Den Broeke, Michiel R., Van De Wal, Roderik, Nowicki, Sophie, Goelzer, Heiko, Seroussi, Hélène, Payne, Anthony J., Lipscomb, William H., Abe-Ouchi, Ayako, Agosta, Cécile, Alexander, Patrick, Asay-Davis, Xylar S., Barthel, Alice, Bracegirdle, Thomas J., Cullather, Richard, Felikson, Denis, Fettweis, Xavier, Gregory, Jonathan M., Hattermann, Tore, Jourdain, Nicolas C., Kuipers Munneke, Peter, Larour, Eric, Little, Christopher M., Morlighem, Mathieu, Nias, Isabel, Shepherd, Andrew, Simon, Erika, Slater, Donald, Smith, Robin S., Straneo, Fiammetta, Trusel, Luke D., Van Den Broeke, Michiel R., and Van De Wal, Roderik
Abstract: Projection of the contribution of ice sheets to sea level change as part of the Coupled Model Intercomparison Project Phase 6 (CMIP6) takes the form of simulations from coupled ice sheet-climate models and stand-alone ice sheet models, overseen by the Ice Sheet Model Intercomparison Project for CMIP6 (ISMIP6). This paper describes the experimental setup for process-based sea level change projections to be performed with stand-alone Greenland and Antarctic ice sheet models in the context of ISMIP6. The ISMIP6 protocol relies on a suite of polar atmospheric and oceanic CMIP-based forcing for ice sheet models, in order to explore the uncertainty in projected sea level change due to future emissions scenarios, CMIP models, ice sheet models, and parameterizations for ice-ocean interactions. We describe here the approach taken for defining the suite of ISMIP6 stand-alone ice sheet simulations, document the experimental framework and implementation, and present an overview of the ISMIP6 forcing to be used by participating ice sheet modeling groups.
Published: 2020

29. Experimental protocol for sea level projections from ISMIP6 stand-alone ice sheet models

Author: Marine and Atmospheric Research, Sub Dynamics Meteorology, Proceskunde, Sub Algemeen Marine & Atmospheric Res, Nowicki, Sophie, Goelzer, Heiko, Seroussi, Hélène, Payne, Anthony J., Lipscomb, William H., Abe-Ouchi, Ayako, Agosta, Cécile, Alexander, Patrick, Asay-Davis, Xylar S., Barthel, Alice, Bracegirdle, Thomas J., Cullather, Richard, Felikson, Denis, Fettweis, Xavier, Gregory, Jonathan M., Hattermann, Tore, Jourdain, Nicolas C., Kuipers Munneke, Peter, Larour, Eric, Little, Christopher M., Morlighem, Mathieu, Nias, Isabel, Shepherd, Andrew, Simon, Erika, Slater, Donald, Smith, Robin S., Straneo, Fiammetta, Trusel, Luke D., Van Den Broeke, Michiel R., Van De Wal, Roderik, Marine and Atmospheric Research, Sub Dynamics Meteorology, Proceskunde, Sub Algemeen Marine & Atmospheric Res, Nowicki, Sophie, Goelzer, Heiko, Seroussi, Hélène, Payne, Anthony J., Lipscomb, William H., Abe-Ouchi, Ayako, Agosta, Cécile, Alexander, Patrick, Asay-Davis, Xylar S., Barthel, Alice, Bracegirdle, Thomas J., Cullather, Richard, Felikson, Denis, Fettweis, Xavier, Gregory, Jonathan M., Hattermann, Tore, Jourdain, Nicolas C., Kuipers Munneke, Peter, Larour, Eric, Little, Christopher M., Morlighem, Mathieu, Nias, Isabel, Shepherd, Andrew, Simon, Erika, Slater, Donald, Smith, Robin S., Straneo, Fiammetta, Trusel, Luke D., Van Den Broeke, Michiel R., and Van De Wal, Roderik
Published: 2020

30. Ice flow direction change in interior West Antarctica

Author: Siegert, Martin J., Welch, Brian, Morse, David, Vieli, Andreas, Blankenship, Donald D., Joughin, Ian, King, Edward C., Leysinger Vieli, Gwendolyn J.-M. C., Payne, Anthony J., and Jacobel, Robert
Subjects: Antarctica -- Environmental aspects, Glaciology -- Observations -- Environmental aspects, Icing (Meteorology) -- Environmental aspects, Science and technology, Observations, Environmental aspects
Abstract: Upstream of Byrd Station (West Antarctica), ice-penetrating radar data reveal a distinctive fold structure within the ice, in which isochronous layers are unusually deep. The fold has an axis more than 50 kilometers long, which is aligned up to 45° to the ice flow direction. Although explanations for the fold's formation under the present flow are problematic, it can be explained if flow was parallel to the fold axis ~1500 years ago. This flow change may be associated with ice stream alterations nearer the margin. If this is true, central West Antarctica may respond to future alterations more than previously thought., Ice-penetrating radar provides information on ice thickness, subglacial morphology, and internal layering, caused by electromagnetic-wave reflections from dielectric contrasts (such as high-acidity horizons formed from the aerosol product of volcanic [...]
Published: 2004

31. Experimental protocol for sea level projections from ISMIP6 stand-alone ice sheet models

Author: Nowicki, Sophie, primary, Goelzer, Heiko, additional, Seroussi, Hélène, additional, Payne, Anthony J., additional, Lipscomb, William H., additional, Abe-Ouchi, Ayako, additional, Agosta, Cécile, additional, Alexander, Patrick, additional, Asay-Davis, Xylar S., additional, Barthel, Alice, additional, Bracegirdle, Thomas J., additional, Cullather, Richard, additional, Felikson, Denis, additional, Fettweis, Xavier, additional, Gregory, Jonathan M., additional, Hattermann, Tore, additional, Jourdain, Nicolas C., additional, Kuipers Munneke, Peter, additional, Larour, Eric, additional, Little, Christopher M., additional, Morlighem, Mathieu, additional, Nias, Isabel, additional, Shepherd, Andrew, additional, Simon, Erika, additional, Slater, Donald, additional, Smith, Robin S., additional, Straneo, Fiammetta, additional, Trusel, Luke D., additional, van den Broeke, Michiel R., additional, and van de Wal, Roderik, additional
Published: 2020
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32. initMIP-Antarctica

Author: Seroussi, Helene, Nowicki, Sophie, Simon, Erika, Abe-Ouchi, Ayako, Albrecht, Torsten, Brondex, Julien, Cornford, Stephen, Dumas, Christophe, Gillet-Chaulet, Fabien, Goelzer, Heiko, Golledge, Nicholas R., Gregory, Jonathan M., Greve, Ralf, Hoffman, Matthew J., Humbert, Angelika, Huybrechts, Philippe, Kleiner, Thomas, Larourl, Eric, Leguy, Gunter, Lipscomb, William H., Lowry, Daniel, Mengel, Matthias, Morlighem, Mathieu, Pattyn, Frank, Payne, Anthony J., Pollard, David, Price, Stephen F., Quiquet, Aurelien, Reerink, Thomas J., Reese, Ronja, Rodehacke, Christian B., Schlegel, Nicole-Jeanne, Shepherd, Andrew, Sun, Sainan, Sutter, Johannes, Van Breedam, Jonas, van de Wal, Roderik S. W., Winkelmann, Hilke Ricarda (Prof. Dr.), and Zhang, Tong
Subjects: Institut für Physik und Astronomie, ddc:530
Abstract: Ice sheet numerical modeling is an important tool to estimate the dynamic contribution of the Antarctic ice sheet to sea level rise over the coming centuries. The influence of initial conditions on ice sheet model simulations, however, is still unclear. To better understand this influence, an initial state intercomparison exercise (initMIP) has been developed to compare, evaluate, and improve initialization procedures and estimate their impact on century-scale simulations. initMlP is the first set of experiments of the Ice Sheet Model Intercomparison Project for CMIP6 (ISMIP6), which is the primary Coupled Model Intercomparison Project Phase 6 (CMIP6) activity focusing on the Greenland and Antarctic ice sheets. Following initMlP-Greenland, initMlP-Antarctica has been designed to explore uncertainties associated with model initialization and spin-up and to evaluate the impact of changes in external forcings. Starting from the state of the Antarctic ice sheet at the end of the initialization procedure, three forward experiments are each run for 100 years: a control run, a run with a surface mass balance anomaly, and a run with a basal melting anomaly beneath floating ice. This study presents the results of initMlP-Antarctica from 25 simulations performed by 16 international modeling groups. The submitted results use different initial conditions and initialization methods, as well as ice flow model parameters and reference external forcings. We find a good agreement among model responses to the surface mass balance anomaly but large variations in responses to the basal melting anomaly. These variations can be attributed to differences in the extent of ice shelves and their upstream tributaries, the numerical treatment of grounding line, and the initial ocean conditions applied, suggesting that ongoing efforts to better represent ice shelves in continental-scale models should continue.
Published: 2019

33. InitMIP-Antarctica: An ice sheet model initialization experiment of ISMIP6

Author: Sub Dynamics Meteorology, Proceskunde, Sub Algemeen Marine & Atmospheric Res, Marine and Atmospheric Research, Seroussi, Helene, Nowicki, Sophie, Simon, Erika, Abe-Ouchi, Ayako, Albrecht, Torsten, Brondex, Julien, Cornford, Stephen, Dumas, Christophe, Gillet-Chaulet, Fabien, Goelzer, Heiko, Golledge, Nicholas R., Gregory, Jonathan M., Greve, Ralf, Hoffman, Matthew J., Humbert, Angelika, Huybrechts, Philippe, Kleiner, Thomas, Larour, Eric, Leguy, Gunter, Lipscomb, William H., Lowry, Daniel, Mengel, Matthias, Morlighem, Mathieu, Pattyn, Frank, Payne, Anthony J., Pollard, David, Price, Stephen F., Quiquet, Aurelien, Reerink, Thomas J., Reese, Ronja, Rodehacke, Christian B., Schlegel, Nicole Jeanne, Shepherd, Andrew, Sun, Sainan, Sutter, Johannes, Van Breedam, Jonas, Van De Wal, Roderik S.W., Winkelmann, Ricarda, Zhang, Tong, Sub Dynamics Meteorology, Proceskunde, Sub Algemeen Marine & Atmospheric Res, Marine and Atmospheric Research, Seroussi, Helene, Nowicki, Sophie, Simon, Erika, Abe-Ouchi, Ayako, Albrecht, Torsten, Brondex, Julien, Cornford, Stephen, Dumas, Christophe, Gillet-Chaulet, Fabien, Goelzer, Heiko, Golledge, Nicholas R., Gregory, Jonathan M., Greve, Ralf, Hoffman, Matthew J., Humbert, Angelika, Huybrechts, Philippe, Kleiner, Thomas, Larour, Eric, Leguy, Gunter, Lipscomb, William H., Lowry, Daniel, Mengel, Matthias, Morlighem, Mathieu, Pattyn, Frank, Payne, Anthony J., Pollard, David, Price, Stephen F., Quiquet, Aurelien, Reerink, Thomas J., Reese, Ronja, Rodehacke, Christian B., Schlegel, Nicole Jeanne, Shepherd, Andrew, Sun, Sainan, Sutter, Johannes, Van Breedam, Jonas, Van De Wal, Roderik S.W., Winkelmann, Ricarda, and Zhang, Tong
Published: 2019

34. Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Author: Mahajan, Anubha, Taliun, Daniel, Thurner, Matthias, Robertson, Neil R, Torres, Jason M, Rayner, N William, Payne, Anthony J, Steinthorsdottir, Valgerdur, Scott, Robert A, Grarup, Niels, Cook, James P, Schmidt, Ellen M, Wuttke, Matthias, Sarnowski, Chloé, Mägi, Reedik, Nano, Jana, Gieger, Christian, Trompet, Stella, Lecoeur, Cécile, Preuss, Michael H, Prins, Bram Peter, Guo, Xiuqing, Bielak, Lawrence F, Below, Jennifer E, Bowden, Donald W, Chambers, John Campbell, Kim, Young Jin, Ng, Maggie C Y, Petty, Lauren E, Sim, Xueling, Zhang, Weihua, Bennett, Amanda J, Bork-Jensen, Jette, Brummett, Chad M, Canouil, Mickaël, Ec Kardt, Kai-Uwe, Fischer, Krista, Kardia, Sharon L R, Kronenberg, Florian, Läll, Kristi, Liu, Ching-Ti, Locke, Adam E, Luan, Jian'an, Ntalla, Ioanna, Nylander, Vibe, Schönherr, Sebastian, Schurmann, Claudia, Yengo, Loïc, Bottinger, Erwin P, Brandslund, Ivan, Christensen, Cramer, Dedoussis, George, Florez, Jose C, Ford, Ian, Franco, Oscar H, Frayling, Timothy M, Giedraitis, Vilmantas, Hackinger, Sophie, Hattersley, Andrew T, Herder, Christian, Ikram, M Arfan, Ingelsson, Martin, Jørgensen, Marit E, Jørgensen, Torben, Kriebel, Jennifer, Kuusisto, Johanna, Ligthart, Symen, Lindgren, Cecilia M, Linneberg, Allan, Lyssenko, Valeriya, Mamakou, Vasiliki, Meitinger, Thomas, Mohlke, Karen L, Morris, Andrew D, Nadkarni, Girish, Pankow, James S, Peters, Annette, Sattar, Naveed, Stančáková, Alena, Strauch, Konstantin, Taylor, Kent D, Thorand, Barbara, Thorleifsson, Gudmar, Thorsteinsdottir, Unnur, Tuomilehto, Jaakko, Witte, Daniel R, Dupuis, Josée, Peyser, Patricia A, Zeggini, Eleftheria, Loos, Ruth J F, Froguel, Philippe, Ingelsson, Erik, Lind, Lars, Groop, Leif, Laakso, Markku, Collins, Francis S, Jukema, J Wouter, Palmer, Colin N A, Grallert, Harald, Metspalu, Andres, Dehghan, Abbas, Köttgen, Anna, Abecasis, Goncalo R, Meigs, James B, Rotter, Jerome I, Marchini, Jonathan, Pedersen, Oluf, Hansen, Torben, Langenberg, Claudia, Wareham, Nicholas J, Stefansson, Kari, Gloyn, Anna L, Morris, Andrew P, Boehnke, Michael, and McCarthy, Mark I
Subjects: endocrine system diseases
Abstract: We expanded GWAS discovery for type 2 diabetes (T2D) by combining data from 898,130 European-descent individuals (9% cases), after imputation to high-density reference panels. With these data, we (i) extend the inventory of T2D-risk variants (243 loci, 135 newly implicated in T2D predisposition, comprising 403 distinct association signals); (ii) enrich discovery of lower-frequency risk alleles (80 index variants with minor allele frequency 2); (iii) substantially improve fine-mapping of causal variants (at 51 signals, one variant accounted for >80% posterior probability of association (PPA)); (iv) extend fine-mapping through integration of tissue-specific epigenomic information (islet regulatory annotations extend the number of variants with PPA >80% to 73); (v) highlight validated therapeutic targets (18 genes with associations attributable to coding variants); and (vi) demonstrate enhanced potential for clinical translation (genome-wide chip heritability explains 18% of T2D risk; individuals in the extremes of a T2D polygenic risk score differ more than ninefold in prevalence).
Published: 2018

35. initMIP-Antarctica: An ice sheet model initialization experiment of ISMIP6

Author: Seroussi, Hélène, primary, Nowicki, Sophie, additional, Simon, Erika, additional, Abe Ouchi, Ayako, additional, Albrecht, Torsten, additional, Brondex, Julien, additional, Cornford, Stephen, additional, Dumas, Christophe, additional, Gillet-Chaulet, Fabien, additional, Goelzer, Heiko, additional, Golledge, Nicholas R., additional, Gregory, Jonathan M., additional, Greve, Ralf, additional, Hoffman, Matthew J., additional, Humbert, Angelika, additional, Huybrechts, Philippe, additional, Kleiner, Thomas, additional, Larour, Eric, additional, Leguy, Gunter, additional, Lipscomb, William H., additional, Lowry, Daniel, additional, Mengel, Matthias, additional, Morlighem, Mathieu, additional, Pattyn, Frank, additional, Payne, Anthony J., additional, Pollard, David, additional, Price, Stephen, additional, Quiquet, Aurélien, additional, Reerink, Thomas, additional, Reese, Ronja, additional, Rodehacke, Christian B., additional, Schlegel, Nicole-Jeanne, additional, Shepherd, Andrew, additional, Sun, Sainan, additional, Sutter, Johannes, additional, Van Breedam, Jonas, additional, van de Wal, Roderik S. W., additional, Winkelmann, Ricarda, additional, and Zhang, Tong, additional
Published: 2019
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36. Genetic effects on gene expression across human tissues

Author: Haugen, Eric, He, Yuan, Chen, Lin S., Dermitzakis, Emmanouil T., Branton, Philip A., Nobel, Andrew B., Park, YoSon, McLean, Jeffrey A., Neri, Fidencio J., Tabor, David E., Saha, Ashis, Sobin, Leslie, Doherty, Jennifer A., Rosenbloom, Kate R., Quan, Jie, Strober, Benjamin J., Liu, Yaping, Valley, Dana, Basha, Omer, Barshir, Ruth, Trowbridge, Casandra A., Segrè, Ayellet V., Skol, Andrew, Karasik, Ellen, Bridge, Jason, Kent, W. James, Chiang, Colby, Damani, Farhan N., Karczewski, Konrad J., Barcus, Mary E., Oliva, Meritxell, Papasaikas, Panagiotis, Nelson, Jemma, Linke, Caroline, Paten, Benedict, Gelfand, Ellen T., Zhu, Jingchun, Wright, Fred A., Smith, Kevin S., Halow, Jessica, Kim-Hellmuth, Sarah, Salvatore, Michael, Hunter, Steven, Noble, Michael S., Goldman, Mary, Nguyen, Duyen Y., Singh, Shilpi, Rohrer, Daniel C., Cox, Nancy J., Hickey, Peter F., Battle, Alexis, Claussnitzer, Melina, Molinie, Benoit, Aguet, François, Balliu, Brunilda, Thomas, Jeffrey A., Hormozdiari, Farhad, Hou, Lei, Kaul, Rajinder, Peterson, Christine B., Lin, Jessica, Barker, Laura K., Brown, Christopher D., Guan, Ping, Lee, Kristen, Gloudemans, Michael J., Ripke, Stephan, Moser, Michael T., Muñoz-Aguirre, Manuel, Haeussler, Maximilian, Vatanian, Negin, Gewirtz, Ariel D.H., Castel, Stephane E., Monlong, Jean, Scott, Alexandra J., Stamatoyannopoulos, John, Ruffier, Magali, Zappala, Zachary, Li, Xiao, Ferreira, Pedro G., Nierras, Concepcion R., Yeger-Lotem, Esti, Wen, Xiaoquan, Struewing, Jeffery P., Delaneau, Olivier, Tukiainen, Taru, Tomaszewski, Maria M., Jo, Brian, Park, Yongjin, Martin, Casey, Bogu, Gireesh K., Pierce, Brandon L., Zhou, Yi-Hui, Eskin, Eleazar, Reverter, Ferran, Guigó, Roderic, Teran, Nicole A., Lek, Monkol, Leinweber, William F., Ardlie, Kristin G., Kopen, Gene, Ongen, Halit, Lonsdale, John T., Hall, Ira M., Bustamante, Carlos D., Quon, Gerald, Han, Buhm, Mohammadi, Pejman, Nicolae, Dan L., Kellis, Manolis, Vivian, John, Robinson, Karna L., Davis, David A., Washington, Michael, Montroy, Robert G., Craft, Brian, Wang, Gao, Garrido-Martín, Diego, Taylor, Kieron, Linder, Sandra, Hadley, Kane, Addington, Anjene M., Davis, Joe R., Siminoff, Laura A., Miklos, Mark, Tsang, Emily K., Diegel, Morgan, Mash, Deborah C., McDowell, Ian C., Lockhart, Nicole C., Payne, Anthony J., Abell, Nathan S., Cummings, Beryl B., Wheeler, Joseph, Matose, Takunda, Demanelis, Kathryn, Gliner, Genna, Stephens, Matthew, McDonald, Alisa, Rao, Abhi, Foster, Barbara A., Frésard, Laure, Brown, Andrew A., Zhang, Rui, Rinaldi, Nicola J., Gillard, Bryan M., Zerbino, Daniel R., Sabatti, Chiara, Moore, Helen M., Hasz, Richard, Brigham, Lori E., Zaugg, Judith B., Jian, Ruiqi, Conrad, Donald F., Snyder, Michael P., Im, Hae Kyung, Wu, Fan, MacArthur, Daniel G., Liu, Boxiang, Gamazon, Eric R., Jiang, Lihua, Sammeth, Michael, Johns, Christopher, Maurano, Matthew T., Hansen, Kasper D., Kang, Eun Yong, Myer, Kevin, Tang, Hua, Johnson, Mark, Fernando, Marian S., Smith, Anna M., Urbut, Sarah, Gould, Sarah E., Van Wittenberghe, Nicholas, Lee, Christopher M., Engelhardt, Barbara E., Panousis, Nikolaos, Palowitch, John J., Kibriya, Muhammad G., Sheppard, Dan, McCarthy, Mark I., Ndungu, Anne W., Valentino, Kimberly M., Sodaei, Reza, Sandstrom, Richard, Parsana, Princy, Kim, Yungil, Kumar, Rachna, Chan, Joanne, Little, A. Roger, Shimko, Tyler C., Volpi, Simona, Li, Qin, Akey, Joshua M., Walters, Gary, Roe, Bryan, Undale, Anita H., Van De Bunt, Martijn, Getz, Gad, Li, Jin Billy, Mangul, Serghei, Feinberg, Andrew P., Sul, Jae Hoon, Rizzardi, Lindsay F., Nguyen, Duyen T., Stranger, Barbara E., Um, Ki Sung, Flicek, Paul, Trevanion, Stephen J., Vaught, Jimmie B., Lockart, Nicole C., Nedzel, Jared L., Handsaker, Robert E., Hunter, Marcus, Xi, Hualin S., Bates, Daniel, Howald, Cedric, Roche, Nancy V., Koester, Susan, Huang, Katherine H., Sullivan, Timothy J., Wang, Meng, Shabalin, Andrey A., Shad, Saboor, Hariharan, Pushpa, He, Amy Z., Qi, Liqun, Lappalainen, Tuuli, Li, Xin, Carithers, Latarsha J., Mestichelli, Bernadette, Kashin, Seva, Li, Gen, Jasmine, Farzana, Juettemann, Thomas, Montgomery, Stephen B., Zhang, Hailei, Traino, Heather M., Mosavel, Maghboeba, Koester, Susan E., Lin, Shin, Jewell, Scott D., Johnson, Audra, and Wang, Li
Abstract: Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression levels across individuals and diverse tissues of the human body, many of which are not easily accessible. Here we describe genetic effects on gene expression levels across 44 human tissues. We find that local genetic variation affects gene expression levels for the majority of genes, and we further identify inter-chromosomal genetic effects for 93 genes and 112 loci. On the basis of the identified genetic effects, we characterize patterns of tissue specificity, compare local and distal effects, and evaluate the functional properties of the genetic effects. We also demonstrate that multi-tissue, multi-individual data can be used to identify genes and pathways affected by human disease-associated variation, enabling a mechanistic interpretation of gene regulation and the genetic basis of disease.
Published: 2017
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37. Loss of ZnT8 function protects against diabetes by enhanced insulin secretion

Author: Dwivedi, Om Prakash, primary, Lehtovirta, Mikko, additional, Hastoy, Benoit, additional, Chandra, Vikash, additional, Kleiner, Sandra, additional, Jain, Deepak, additional, Richard, Ann-Marie, additional, Beer, Nicola L., additional, Krentz, Nicole A. J., additional, Prasad, Rashmi B., additional, Hansson, Ola, additional, Ahlqvist, Emma, additional, Krus, Ulrika, additional, Artner, Isabella, additional, Gomez, Daniel, additional, Baras, Aris, additional, Abaitua, Fernando, additional, Champon, Benoite, additional, Payne, Anthony J, additional, Moralli, Daniela, additional, Thomsen, Soren K., additional, Kramer, Philipp, additional, Spiliotis, Ioannis, additional, Ramracheya, Reshma, additional, Chabosseau, Pauline, additional, Theodoulou, Andria, additional, Cheung, Rebecca, additional, van de Bunt, Martijn, additional, Flannick, Jason, additional, Trombetta, Maddalena, additional, Bonora, Enzo, additional, Wolheim, Claes B., additional, Sarelin, Leena, additional, Bonadonna, Riccardo C., additional, Rorsman, Patrik, additional, Rutter, Guy A, additional, Davies, Benjamin, additional, Brosnan, Julia, additional, McCarthy, Mark I., additional, Otonkoski, Timo, additional, Lagerstedt, Jens O., additional, Gromada, Jesper, additional, Gloyn, Anna L., additional, Tuomi, Tiinamaija, additional, and Groop, Leif, additional
Published: 2018
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38. Discovery and Fine-Mapping of Type 2 Diabetes Susceptibility Loci in Diverse Populations Using More than a Million Individuals

Author: MAHAJAN, ANUBHA, primary, KITAJIMA, HIDETOSHI, additional, SIM, XUELING, additional, NG, MAGGIE, additional, ZHANG, WEIHUA, additional, BELOW, JENNIFER E., additional, PAYNE, ANTHONY J., additional, GAULTON, KYLE, additional, and MORRIS, ANDREW, additional
Published: 2018
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39. Impact of melt water on high latitude early Last Interglacial climate

Author: Stone, Emma J., Capron, Emilie, Lunt, Daniel J., Payne, Anthony J., Singarayer, Joy S., Valdes, Paul J., Wolff, Eric W., Stone, Emma J., Capron, Emilie, Lunt, Daniel J., Payne, Anthony J., Singarayer, Joy S., Valdes, Paul J., and Wolff, Eric W.
Abstract: Recent data compilations of the early Last Interglacial period have indicated a bipolar temperature response at 130 ka, with colder-than-present temperatures in the North Atlantic and warmer-than-present temperatures in the Southern Ocean and over Antarctica. However, climate model simulations of this period have been unable to reproduce this response, when only orbital and greenhouse gas forcings are considered in a climate model framework. Here we show using full complexity General Circulation Model simulations at 130 ka with the magnitude of freshwater forcing derived from data, that meltwater from the remnant Northern Hemisphere ice-sheets during the glacial-interglacial transition accounts for the observed colder than present temperatures in the North Atlantic at 130 ka and also results in warmer than present temperatures in the Southern Ocean via the bipolar seesaw mechanism. This integrated model-data approach, for the first time, provides evidence that Northern Hemisphere freshwater forcing is an important player in the evolution of early Last Interglacial climate.
Published: 2016

40. The Political History of CARICOM

Author: Payne, Anthony J., Payne, Anthony J., Payne, Anthony J., and Payne, Anthony J.
Published: 2008

41. Potential sea-level rise from Antarctic ice-sheet instability constrained by observations

Author: Ritz, Catherine, Edwards, Tamsin L., Durand, Gaël, Payne, Anthony J., Peyaud, Vincent, Hindmarsh, Richard C.A., Ritz, Catherine, Edwards, Tamsin L., Durand, Gaël, Payne, Anthony J., Peyaud, Vincent, and Hindmarsh, Richard C.A.
Abstract: Large parts of the Antarctic ice sheet lying on bedrock below sea level may be vulnerable to marine-ice-sheet instability (MISI)1, a self-sustaining retreat of the grounding line triggered by oceanic or atmospheric changes. There is growing evidence2, 3, 4 that MISI may be underway throughout the Amundsen Sea embayment (ASE), which contains ice equivalent to more than a metre of global sea-level rise. If triggered in other regions5, 6, 7, 8, the centennial to millennial contribution could be several metres. Physically plausible projections are challenging9: numerical models with sufficient spatial resolution to simulate grounding-line processes have been too computationally expensive2, 3, 10 to generate large ensembles for uncertainty assessment, and lower-resolution model projections11 rely on parameterizations that are only loosely constrained by present day changes. Here we project that the Antarctic ice sheet will contribute up to 30 cm sea-level equivalent by 2100 and 72 cm by 2200 (95% quantiles) where the ASE dominates. Our process-based, statistical approach gives skewed and complex probability distributions (single mode, 10 cm, at 2100; two modes, 49 cm and 6 cm, at 2200). The dependence of sliding on basal friction is a key unknown: nonlinear relationships favour higher contributions. Results are conditional on assessments of MISI risk on the basis of projected triggers under the climate scenario A1B (ref. 9), although sensitivity to these is limited by theoretical and topographical constraints on the rate and extent of ice loss. We find that contributions are restricted by a combination of these constraints, calibration with success in simulating observed ASE losses, and low assessed risk in some basins. Our assessment suggests that upper-bound estimates from low-resolution models and physical arguments9 (up to a metre by 2100 and around one and a half by 2200) are implausible under current understanding of physical mechanisms and potential triggers.
Published: 2015

42. Grounding-line migration in plan-view marine ice-sheet models: results of the ice2sea MISMIP3d intercomparison

Author: Université Libre de Bruxelles - Laboratoire de Glaciologie, UCL - SST/ELI/ELIC - Earth & Climate, Pattyn, Frank, Perichon, Laura, Durand, Gaël, Favier, Lionel, Gagliardini, Olivier, Hindmarsh, Richard C.A., Zwinger, Thomas, Albrecht, Torsten, Cornford, Stephen, Docquier, David, Fürst, Johannes J., Goldberg, Daniel, Gudmundsson, G. Hilmar, Humbert, Angelika, Hütten, Moritz, Huybrechts, Philippe, Jouvet, Guillaume, Kleiner, Thomas, Larour, Eric, Martin, Daniel, Morlighem, Mathieu, Payne, Anthony J., Pollard, David, Rückamp, Martin, Rybak, Oleg, Seroussi, Hélène, Thoma, Malte, Wilkens, Nina, Université Libre de Bruxelles - Laboratoire de Glaciologie, UCL - SST/ELI/ELIC - Earth & Climate, Pattyn, Frank, Perichon, Laura, Durand, Gaël, Favier, Lionel, Gagliardini, Olivier, Hindmarsh, Richard C.A., Zwinger, Thomas, Albrecht, Torsten, Cornford, Stephen, Docquier, David, Fürst, Johannes J., Goldberg, Daniel, Gudmundsson, G. Hilmar, Humbert, Angelika, Hütten, Moritz, Huybrechts, Philippe, Jouvet, Guillaume, Kleiner, Thomas, Larour, Eric, Martin, Daniel, Morlighem, Mathieu, Payne, Anthony J., Pollard, David, Rückamp, Martin, Rybak, Oleg, Seroussi, Hélène, Thoma, Malte, and Wilkens, Nina
Abstract: Predictions of marine ice-sheet behaviour require models able to simulate grounding-line migration. We present results of an intercomparison experiment for plan-view marine ice-sheet models. Verification is effected by comparison with approximate analytical solutions for flux across the grounding line using simplified geometrical configurations (no lateral variations, no buttressing effects from lateral drag). Perturbation experiments specifying spatial variation in basal sliding parameters permitted the evolution of curved grounding lines, generating buttressing effects. The experiments showed regions of compression and extensional flow across the grounding line, thereby invalidating the boundary layer theory. Steady-state grounding-line positions were found to be dependent on the level of physical model approximation. Resolving grounding lines requires inclusion of membrane stresses, a sufficiently small grid size (<500 m), or subgrid interpolation of the grounding line. The latter still requires nominal grid sizes of <5 km. For larger grid spacings, appropriate parameterizations for ice flux may be imposed at the grounding line, but the short-time transient behaviour is then incorrect and different from models that do not incorporate grounding-line parameterizations. The numerical error associated with predicting grounding-line motion can be reduced significantly below the errors associated with parameter ignorance and uncertainties in future scenarios.
Published: 2013

43. Type 2 diabetes risk alleles in PAMimpact insulin release from human pancreatic β-cells

Author: Thomsen, Soren K., Raimondo, Anne, Hastoy, Benoit, Sengupta, Shahana, Dai, Xiao-Qing, Bautista, Austin, Censin, Jenny, Payne, Anthony J., Umapathysivam, Mahesh M., Spigelman, Aliya F., Barrett, Amy, Groves, Christopher J., Beer, Nicola L., Manning Fox, Jocelyn E., McCarthy, Mark I., Clark, Anne, Mahajan, Anubha, Rorsman, Patrik, MacDonald, Patrick E., and Gloyn, Anna L.
Abstract: The molecular mechanisms underpinning susceptibility loci for type 2 diabetes (T2D) remain poorly understood. Coding variants in peptidylglycine α-amidating monooxygenase (PAM) are associated with both T2D risk and insulinogenic index. Here, we demonstrate that the T2D risk alleles impact negatively on overall PAM activity via defects in expression and catalytic function. PAM deficiency results in reduced insulin content and altered dynamics of insulin secretion in a human β-cell model and primary islets from cadaveric donors. Thus, our results demonstrate a role for PAM in β-cell function, and establish molecular mechanisms for T2D risk alleles at this locus.
Published: 2018
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44. Democracy in the Caribbean: Myths and Realities Carlene J. Edie

Author: Payne, Anthony J.
Published: 1997

45. Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics

Author: Barbeira, Alvaro N., Dickinson, Scott P., Bonazzola, Rodrigo, Zheng, Jiamao, Wheeler, Heather E., Torres, Jason M., Torstenson, Eric S., Shah, Kaanan P., Garcia, Tzintzuni, Edwards, Todd L., Stahl, Eli A., Huckins, Laura M., Aguet, François, Ardlie, Kristin G., Cummings, Beryl B., Gelfand, Ellen T., Getz, Gad, Hadley, Kane, Handsaker, Robert E., Huang, Katherine H., Kashin, Seva, Karczewski, Konrad J., Lek, Monkol, Li, Xiao, MacArthur, Daniel G., Nedzel, Jared L., Nguyen, Duyen T., Noble, Michael S., Segrè, Ayellet V., Trowbridge, Casandra A., Tukiainen, Taru, Abell, Nathan S., Balliu, Brunilda, Barshir, Ruth, Basha, Omer, Battle, Alexis, Bogu, Gireesh K., Brown, Andrew, Brown, Christopher D., Castel, Stephane E., Chen, Lin S., Chiang, Colby, Conrad, Donald F., Damani, Farhan N., Davis, Joe R., Delaneau, Olivier, Dermitzakis, Emmanouil T., Engelhardt, Barbara E., Eskin, Eleazar, Ferreira, Pedro G., Frésard, Laure, Gamazon, Eric R., Garrido-Martín, Diego, Gewirtz, Ariel D. H., Gliner, Genna, Gloudemans, Michael J., Guigo, Roderic, Hall, Ira M., Han, Buhm, He, Yuan, Hormozdiari, Farhad, Howald, Cedric, Jo, Brian, Kang, Eun Yong, Kim, Yungil, Kim-Hellmuth, Sarah, Lappalainen, Tuuli, Li, Gen, Li, Xin, Liu, Boxiang, Mangul, Serghei, McCarthy, Mark I., McDowell, Ian C., Mohammadi, Pejman, Monlong, Jean, Montgomery, Stephen B., Muñoz-Aguirre, Manuel, Ndungu, Anne W., Nobel, Andrew B., Oliva, Meritxell, Ongen, Halit, Palowitch, John J., Panousis, Nikolaos, Papasaikas, Panagiotis, Park, YoSon, Parsana, Princy, Payne, Anthony J., Peterson, Christine B., Quan, Jie, Reverter, Ferran, Sabatti, Chiara, Saha, Ashis, Sammeth, Michael, Scott, Alexandra J., Shabalin, Andrey A., Sodaei, Reza, Stephens, Matthew, Stranger, Barbara E., Strober, Benjamin J., Sul, Jae Hoon, Tsang, Emily K., Urbut, Sarah, van de Bunt, Martijn, Wang, Gao, Wen, Xiaoquan, Wright, Fred A., Xi, Hualin S., Yeger-Lotem, Esti, Zappala, Zachary, Zaugg, Judith B., Zhou, Yi-Hui, Akey, Joshua M., Bates, Daniel, Chan, Joanne, Claussnitzer, Melina, Demanelis, Kathryn, Diegel, Morgan, Doherty, Jennifer A., Feinberg, Andrew P., Fernando, Marian S., Halow, Jessica, Hansen, Kasper D., Haugen, Eric, Hickey, Peter F., Hou, Lei, Jasmine, Farzana, Jian, Ruiqi, Jiang, Lihua, Johnson, Audra, Kaul, Rajinder, Kellis, Manolis, Kibriya, Muhammad G., Lee, Kristen, Li, Jin Billy, Li, Qin, Lin, Jessica, Lin, Shin, Linder, Sandra, Linke, Caroline, Liu, Yaping, Maurano, Matthew T., Molinie, Benoit, Nelson, Jemma, Neri, Fidencio J., Park, Yongjin, Pierce, Brandon L., Rinaldi, Nicola J., Rizzardi, Lindsay F., Sandstrom, Richard, Skol, Andrew, Smith, Kevin S., Snyder, Michael P., Stamatoyannopoulos, John, Tang, Hua, Wang, Li, Wang, Meng, Van Wittenberghe, Nicholas, Wu, Fan, Zhang, Rui, Nierras, Concepcion R., Branton, Philip A., Carithers, Latarsha J., Guan, Ping, Moore, Helen M., Rao, Abhi, Vaught, Jimmie B., Gould, Sarah E., Lockart, Nicole C., Martin, Casey, Struewing, Jeffery P., Volpi, Simona, Addington, Anjene M., Koester, Susan E., Little, A. Roger, Brigham, Lori E., Hasz, Richard, Hunter, Marcus, Johns, Christopher, Johnson, Mark, Kopen, Gene, Leinweber, William F., Lonsdale, John T., McDonald, Alisa, Mestichelli, Bernadette, Myer, Kevin, Roe, Brian, Salvatore, Michael, Shad, Saboor, Thomas, Jeffrey A., Walters, Gary, Washington, Michael, Wheeler, Joseph, Bridge, Jason, Foster, Barbara A., Gillard, Bryan M., Karasik, Ellen, Kumar, Rachna, Miklos, Mark, Moser, Michael T., Jewell, Scott D., Montroy, Robert G., Rohrer, Daniel C., Valley, Dana R., Davis, David A., Mash, Deborah C., Undale, Anita H., Smith, Anna M., Tabor, David E., Roche, Nancy V., McLean, Jeffrey A., Vatanian, Negin, Robinson, Karna L., Sobin, Leslie, Barcus, Mary E., Valentino, Kimberly M., Qi, Liqun, Hunter, Steven, Hariharan, Pushpa, Singh, Shilpi, Um, Ki Sung, Matose, Takunda, Tomaszewski, Maria M., Barker, Laura K., Mosavel, Maghboeba, Siminoff, Laura A., Traino, Heather M., Flicek, Paul, Juettemann, Thomas, Ruffier, Magali, Sheppard, Dan, Taylor, Kieron, Trevanion, Stephen J., Zerbino, Daniel R., Craft, Brian, Goldman, Mary, Haeussler, Maximilian, Kent, W. James, Lee, Christopher M., Paten, Benedict, Rosenbloom, Kate R., Vivian, John, Zhu, Jingchun, Nicolae, Dan L., Cox, Nancy J., and Im, Hae Kyung
Abstract: Scalable, integrative methods to understand mechanisms that link genetic variants with phenotypes are needed. Here we derive a mathematical expression to compute PrediXcan (a gene mapping approach) results using summary data (S-PrediXcan) and show its accuracy and general robustness to misspecified reference sets. We apply this framework to 44 GTEx tissues and 100+ phenotypes from GWAS and meta-analysis studies, creating a growing public catalog of associations that seeks to capture the effects of gene expression variation on human phenotypes. Replication in an independent cohort is shown. Most of the associations are tissue specific, suggesting context specificity of the trait etiology. Colocalized significant associations in unexpected tissues underscore the need for an agnostic scanning of multiple contexts to improve our ability to detect causal regulatory mechanisms. Monogenic disease genes are enriched among significant associations for related traits, suggesting that smaller alterations of these genes may cause a spectrum of milder phenotypes.
Published: 2018
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46. Europe

Author: Payne, Anthony J., Rosamond, Ben, Payne, Anthony J., and Rosamond, Ben
Published: 2004

47. Haiti in the World Economy: Class, Race, and Underdevelopment since 1700

Author: Payne, Anthony J.
Subjects: Haiti in the World Economy (Book) -- Book reviews, Books -- Book reviews, Political science, Social sciences
Published: 1990

48. Impact of model physics on estimating the surface mass balance of the Greenland ice sheet

Author: Bougamont, Marion, primary, Bamber, Jonathan L., additional, Ridley, Jeff K., additional, Gladstone, Rupert M., additional, Greuell, Wouter, additional, Hanna, Edward, additional, Payne, Anthony J., additional, and Rutt, Ian, additional
Published: 2007
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49. Repositioning the Caribbean Within Globalisation

Author: Payne, Anthony J., primary
Published: 2007
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50. Non‐fiction reviews

Author: Woodward, Peter, primary, Nicholls, David, additional, Kent, John, additional, Sifuna, Daniel N, additional, Robinson, Francis, additional, Tan, Lek Hor, additional, Tapper, Richard, additional, Tripp, Charles, additional, Payne, Anthony J, additional, Allen, Elizabeth, additional, Roxborough, Ian, additional, and Pitt, David, additional
Published: 1992
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