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1. Interplay of Quantum Coherence and Nonequilibrium Quantum Transport: An Exact Density Matrix Formulation in the Heisenberg Framework

Author

Krithivasan, Saikumar, Meitei, Thingujam Yaiphalemba, Sen, Arijit, and Ali, Md Manirul

Subjects
Quantum Physics
Abstract

We aim to bridge the gap between quantum coherence, quantum correlations, and nonequilibrium quantum transport in a quantum double-dot (QDD) system interacting with fermionic reservoirs. The system-reservoir coupling is modeled using a Fano-Anderson-type Hamiltonian. The density operator elements of the QDD system are expressed in terms of expectation values involving various combinations of the fermionic creation and annihilation operators associated with the system. By utilizing the quantum Langevin equation and the Heisenberg equation of motion, we derive the precise temporal behavior of these operator averages in terms of nonequilibrium Green's functions and subsequently obtain the time evolution of the density operator elements. Our approach is valid in both the strong coupling and non-Markovian regimes. Additionally, we examine the time evolution of quantum coherence in the QDD system, quantifying it using standard measures such as the l1-norm and the relative entropy of coherence. As observed, coherence reaches a non-zero steady-state value, highlighting its significant potential for applications in quantum information processing and quantum technologies. Furthermore, we establish a connection between quantum coherence and transport current in a QDD system serially coupled to fermionic reservoirs. We then investigate the effects of coupling strength and reservoir memory by tuning the finite spectral width of the reservoir, examining their impact on both transient and steady-state properties, such as quantum coherence and particle current, which could play a crucial role in ultrafast nanodevice applications., Comment: 20 pages, 15 figures

Published
2025

2. Quantumness of electron transport in quantum dot devices through Leggett-Garg inequalities: A non-equilibrium Green's function approach

Author

Meitei, Thingujam Yaiphalemba, Krithivasan, Saikumar, Sen, Arijit, and Ali, Md Manirul

Subjects
Quantum Physics
Abstract

Although coherent manipulation of electronic states can be achieved in quantum dot (QD) devices by harnessing nanofabrication tools, it is often hard to fathom the extent to which these nanoelectronic devices can behave quantum mechanically. Witnessing their nonclassical nature would thus remain of paramount importance in the emerging world of quantum technologies, since the coherent dynamics of electronic states plays there a crucial role. Against this backdrop, we resort to the general framework of Leggett-Garg inequalities (LGI) as it allows for distinguishing the classical and quantum transport through nanostructures by way of various two-time correlation functions. Using the local charge detection at two different time, we investigate here theoretically whether any quantum violation of the original LGI exists with varying device configurations and parameters under both Markovian and non-Markovian dynamics. Two-time correlators within LGI are derived in terms of the non-equilibrium Green's functions (NEGFs) by exactly solving the quantum Langevin equations. The present study of non-Markovian dynamics of quantum systems interacting with reservoirs is significant for understanding the relaxation phenomenon in the ultrafast transient regime to especially mimic what happens to high-speed quantum devices. We can potentially capture the effect of finite reservoir correlation time by accounting for level broadening at the electrodes along with non-Markovian memory effects. Furthermore, the large bias restriction is no longer imposed in our calculations so that we can safely consider a finite bias between the electronic reservoirs. Our approach is likely to open up new possibilities of witnessing the quantumness for other quantum many-body systems as well that are driven out of the equilibrium., Comment: 15 pages, 8 captioned figures

Published
2024
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6. Sparsity Turns Adversarial: Energy and Latency Attacks on Deep Neural Networks

Author

Krithivasan, Sarada, Sen, Sanchari, and Raghunathan, Anand

Subjects
Computer Science - Machine Learning, Statistics - Machine Learning
Abstract

Adversarial attacks have exposed serious vulnerabilities in Deep Neural Networks (DNNs) through their ability to force misclassifications through human-imperceptible perturbations to DNN inputs. We explore a new direction in the field of adversarial attacks by suggesting attacks that aim to degrade the computational efficiency of DNNs rather than their classification accuracy. Specifically, we propose and demonstrate sparsity attacks, which adversarial modify a DNN's inputs so as to reduce sparsity (or the presence of zero values) in its internal activation values. In resource-constrained systems, a wide range of hardware and software techniques have been proposed that exploit sparsity to improve DNN efficiency. The proposed attack increases the execution time and energy consumption of sparsity-optimized DNN implementations, raising concern over their deployment in latency and energy-critical applications. We propose a systematic methodology to generate adversarial inputs for sparsity attacks by formulating an objective function that quantifies the network's activation sparsity, and minimizing this function using iterative gradient-descent techniques. We launch both white-box and black-box versions of adversarial sparsity attacks on image recognition DNNs and demonstrate that they decrease activation sparsity by up to 1.82x. We also evaluate the impact of the attack on a sparsity-optimized DNN accelerator and demonstrate degradations up to 1.59x in latency, and also study the performance of the attack on a sparsity-optimized general-purpose processor. Finally, we evaluate defense techniques such as activation thresholding and input quantization and demonstrate that the proposed attack is able to withstand them, highlighting the need for further efforts in this new direction within the field of adversarial machine learning.

Published
2020

8. Author Correction: Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits

Author

Liu, Lili, Khan, Atlas, Sanchez-Rodriguez, Elena, Zanoni, Francesca, Li, Yifu, Steers, Nicholas, Balderes, Olivia, Zhang, Junying, Krithivasan, Priya, LeDesma, Robert A., Fischman, Clara, Hebbring, Scott J., Harley, John B., Moncrieffe, Halima, Kottyan, Leah C., Namjou-Khales, Bahram, Walunas, Theresa L., Knevel, Rachel, Raychaudhuri, Soumya, Karlson, Elizabeth W., Denny, Joshua C., Stanaway, Ian B., Crosslin, David, Rauen, Thomas, Floege, Jürgen, Eitner, Frank, Moldoveanu, Zina, Reily, Colin, Knoppova, Barbora, Hall, Stacy, Sheff, Justin T., Julian, Bruce A., Wyatt, Robert J., Suzuki, Hitoshi, Xie, Jingyuan, Chen, Nan, Zhou, Xujie, Zhang, Hong, Hammarström, Lennart, Viktorin, Alexander, Magnusson, Patrik K. E., Shang, Ning, Hripcsak, George, Weng, Chunhua, Rundek, Tatjana, Elkind, Mitchell S. V., Oelsner, Elizabeth C., Barr, R. Graham, Ionita-Laza, Iuliana, Novak, Jan, Gharavi, Ali G., and Kiryluk, Krzysztof

Published
2023
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10. The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Author

Verbitsky, Miguel, Westland, Rik, Perez, Alejandra, Kiryluk, Krzysztof, Liu, Qingxue, Krithivasan, Priya, Mitrotti, Adele, Fasel, David, Batourina, Ekaterina, Sampson, Matthew, Bodria, Monica, Werth, Max, Kao, Charlly, Martino, Jeremiah, Capone, Valentina, Vivante, Asaf, Shril, Shirlee, Kil, Byum, Marasà, Maddalena, Zhang, Jun, Na, Young-Ji, Lim, Tze, Ahram, Dina, Weng, Patricia, Heinzen, Erin, Carrea, Alba, Piaggio, Giorgio, Gesualdo, Loreto, Manca, Valeria, Masnata, Giuseppe, Gigante, Maddalena, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna, Saraga, Marijan, Santoro, Domenico, Conti, Giovanni, Zamboli, Pasquale, White, Hope, Drozdz, Dorota, Zachwieja, Katarzyna, Miklaszewska, Monika, Tkaczyk, Marcin, Tomczyk, Daria, Krakowska, Anna, Sikora, Przemyslaw, Jarmoliński, Tomasz, Borszewska-Kornacka, Maria, Pawluch, Robert, Szczepanska, Maria, Adamczyk, Piotr, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Dobson, Mark, Darlow, John, Puri, Prem, Barton, David, Furth, Susan, Warady, Bradley, Gucev, Zoran, Lozanovski, Vladimir, Tasic, Velibor, Pisani, Isabella, Allegri, Landino, Rodas, Lida, Campistol, Josep, Jeanpierre, Cécile, Alam, Shumyle, Casale, Pasquale, Wong, Craig, Lin, Fangming, Miranda, Débora, Oliveira, Eduardo, Simões-E-Silva, Ana, Barasch, Jonathan, Levy, Brynn, Wu, Nan, Hildebrandt, Friedhelm, Ghiggeri, Gian, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Zhang, Feng, Hakonarson, Hakon, Papaioannou, Virginia, Mendelsohn, Cathy, Gharavi, Ali, and Sanna-Cherchi, Simone

Subjects
Chromosome Deletion, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Kidney, Male, Urinary Tract, Urogenital Abnormalities, Vesico-Ureteral Reflux
Abstract

Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls. Affected individuals carried a significant burden of rare exonic (that is, affecting coding regions) CNVs and were enriched for known genomic disorders (GD). Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, particularly duplications. Six loci (1q21, 4p16.1-p16.3, 16p11.2, 16p13.11, 17q12 and 22q11.2) accounted for 65% of patients with GD-CNVs. Deletions at 17q12, 4p16.1-p16.3 and 22q11.2 were specific for KA; the 16p11.2 locus showed extensive pleiotropy. Using a multidisciplinary approach, we identified TBX6 as a driver for the CAKUT subphenotypes in the 16p11.2 microdeletion syndrome.

Published
2019

11. "The dead shall be raised": Multidisciplinary analysis of human skeletons reveals complexity in 19th century immigrant socioeconomic history and identity in New Haven, Connecticut.

Author

Aronsen, Gary P, Fehren-Schmitz, Lars, Krigbaum, John, Kamenov, George D, Conlogue, Gerald J, Warinner, Christina, Ozga, Andrew T, Sankaranarayanan, Krithivasan, Griego, Anthony, DeLuca, Daniel W, Eckels, Howard T, Byczkiewicz, Romuald K, Grgurich, Tania, Pelletier, Natalie A, Brownlee, Sarah A, Marichal, Ana, Williamson, Kylie, Tonoike, Yukiko, and Bellantoni, Nicholas F

Subjects
Skeleton, Dental Calculus, Tooth, Humans, DNA, Mitochondrial, Pedigree, Anthropology, Archaeology, Socioeconomic Factors, History, 19th Century, Adolescent, Adult, Aged, Middle Aged, Child, Child, Preschool, Infant, Connecticut, Female, Male, Emigrants and Immigrants, Cemeteries, DNA, Mitochondrial, History, 19th Century, Preschool, General Science & Technology
Abstract

In July 2011, renovations to Yale-New Haven Hospital inadvertently exposed the cemetery of Christ Church, New Haven, Connecticut's first Catholic cemetery. While this cemetery was active between 1833 and 1851, both the church and its cemetery disappeared from public records, making the discovery serendipitous. Four relatively well-preserved adult skeletons were recovered with few artifacts. All four individuals show indicators of manual labor, health and disease stressors, and dental health issues. Two show indicators of trauma, with the possibility of judicial hanging in one individual. Musculoskeletal markings are consistent with physical stress, and two individuals have arthritic indicators of repetitive movement/specialized activities. Radiographic analyses show osteopenia, healed trauma, and other pathologies in several individuals. Dental calculus analysis did not identify any tuberculosis indicators, despite osteological markers. Isotopic analyses of teeth indicate that all four were likely recent immigrants to the Northeastern United States. Nuclear and mitochondrial DNA were recovered from three individuals, and these analyses identified ancestry, hair/eye color, and relatedness. Genetic and isotopic results upended our initial ancestry assessment based on burial context alone. These individuals provide biocultural evidence of New Haven's Industrial Revolution and the plasticity of ethnic and religious identity in the immigrant experience. Their recovery and the multifaceted analyses described here illuminate a previously undescribed part of the city's rich history. The collective expertise of biological, geochemical, archaeological, and historical researchers interprets socioeconomic and cultural identity better than any one could alone. Our combined efforts changed our initial assumptions of a poor urban Catholic cemetery's membership, and provide a template for future discoveries and analyses.

Published
2019

14. Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits

Author

Liu, Lili, Khan, Atlas, Sanchez-Rodriguez, Elena, Zanoni, Francesca, Li, Yifu, Steers, Nicholas, Balderes, Olivia, Zhang, Junying, Krithivasan, Priya, LeDesma, Robert A., Fischman, Clara, Hebbring, Scott J., Harley, John B., Moncrieffe, Halima, Kottyan, Leah C., Namjou-Khales, Bahram, Walunas, Theresa L., Knevel, Rachel, Raychaudhuri, Soumya, Karlson, Elizabeth W., Denny, Joshua C., Stanaway, Ian B., Crosslin, David, Rauen, Thomas, Floege, Jürgen, Eitner, Frank, Moldoveanu, Zina, Reily, Colin, Knoppova, Barbora, Hall, Stacy, Sheff, Justin T., Julian, Bruce A., Wyatt, Robert J., Suzuki, Hitoshi, Xie, Jingyuan, Chen, Nan, Zhou, Xujie, Zhang, Hong, Hammarström, Lennart, Viktorin, Alexander, Magnusson, Patrik K. E., Shang, Ning, Hripcsak, George, Weng, Chunhua, Rundek, Tatjana, Elkind, Mitchell S. V., Oelsner, Elizabeth C., Barr, R. Graham, Ionita-Laza, Iuliana, Novak, Jan, Gharavi, Ali G., and Kiryluk, Krzysztof

Published
2022
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15. Reclassification of Facklamia ignava, Facklamia sourekii and Facklamia tabacinasalis as Falseniella ignava gen. nov., comb. nov., Hutsoniella sourekii gen. nov., comb. nov., and Ruoffia tabacinasalis gen. nov., comb. nov., and description of Ruoffia halotolerans sp. nov., isolated from hypersaline Inland Sea of Qatar

Author

Fotedar, Rashmi, Sankaranarayanan, Krithivasan, Caldwell, Matthew E., Zeyara, Aisha, Al Malki, Amina, Kaul, Ridhima, Al Shamari, Hamad, Ali, Mohammad, Al Marri, Masoud, and Lawson, Paul A.

Published
2021
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21. DNNDaSher: A Compiler Framework for Dataflow Compatible End-to-End Acceleration on IBM AIU

Author

Sen, Sanchari, Jain, Shubham, Krithivasan, Sarada, Venkataramani, Swagath, and Srinivasan, Vijayalakshmi

Abstract

Artificial intelligence unit (AIU) is a specialized accelerator card from IBM offering state-of-the-art compute capabilities (hundreds of tera-operations) through dataflow-driven compute arrays attached to a multilevel hierarchy of distributed memory elements. In mapping entire AI models, functional correctness hinges on maintaining dataflow compatibility between producer–consumer operations, i.e., the element organization with which a tensor is produced in memory must match the organization expected by the consumer(s). This paper presents a key component in AIU’s compiler stack, DNN Data-Shuffler (DnnDaSher), a systematic framework to analyze such dataflow incompatibilities and invoke an intermediate operation to shuffle tensor elements within and/or across memory elements to resolve the discrepancy. It targets opportunities to eliminate shuffles and increase granularity of memory accesses. Compared to well-optimized baseline implementations of four Convolutional Neural Networks and Transformer benchmarks, DNNDaSher achieves 1.27×–4.12× (average 2.3×) end-to-end latency improvement based on measured execution cycles on the AIU.

Published
2024
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22. Typicality Graphs:Large Deviation Analysis

Author

Nazari, Ali, Venkataramanan, Ramji, Krithivasan, Dinesh, Pradhan, S. Sandeep, and Anastasopoulos, Achilleas

Subjects
Computer Science - Information Theory
Abstract

Let $\mathcal{X}$ and $\mathcal{Y}$ be finite alphabets and $P_{XY}$ a joint distribution over them, with $P_X$ and $P_Y$ representing the marginals. For any $\epsilon > 0$, the set of $n$-length sequences $x^n$ and $y^n$ that are jointly typical \cite{ckbook} according to $P_{XY}$ can be represented on a bipartite graph. We present a formal definition of such a graph, known as a \emph{typicality} graph, and study some of its properties.

Published
2010

23. Subsistence strategies in traditional societies distinguish gut microbiomes.

Author

Obregon-Tito, Alexandra J, Tito, Raul Y, Metcalf, Jessica, Sankaranarayanan, Krithivasan, Clemente, Jose C, Ursell, Luke K, Zech Xu, Zhenjiang, Van Treuren, Will, Knight, Rob, Gaffney, Patrick M, Spicer, Paul, Lawson, Paul, Marin-Reyes, Luis, Trujillo-Villarroel, Omar, Foster, Morris, Guija-Poma, Emilio, Troncoso-Corzo, Luzmila, Warinner, Christina, Ozga, Andrew T, and Lewis, Cecil M

Subjects
Humans, Bacteroidetes, Treponema, Actinobacteria, RNA, Ribosomal, 16S, Diet, Biodiversity, Agriculture, Classification, Adolescent, Adult, Middle Aged, Child, Child, Preschool, Infant, Oklahoma, Peru, Female, Male, Young Adult, Metagenome, High-Throughput Nucleotide Sequencing, Diet, Paleolithic, Gastrointestinal Microbiome, Firmicutes, Industrial Development
Abstract

Recent studies suggest that gut microbiomes of urban-industrialized societies are different from those of traditional peoples. Here we examine the relationship between lifeways and gut microbiota through taxonomic and functional potential characterization of faecal samples from hunter-gatherer and traditional agriculturalist communities in Peru and an urban-industrialized community from the US. We find that in addition to taxonomic and metabolic differences between urban and traditional lifestyles, hunter-gatherers form a distinct sub-group among traditional peoples. As observed in previous studies, we find that Treponema are characteristic of traditional gut microbiomes. Moreover, through genome reconstruction (2.2-2.5 MB, coverage depth × 26-513) and functional potential characterization, we discover these Treponema are diverse, fall outside of pathogenic clades and are similar to Treponema succinifaciens, a known carbohydrate metabolizer in swine. Gut Treponema are found in non-human primates and all traditional peoples studied to date, suggesting they are symbionts lost in urban-industrialized societies.

Published
2015

24. Publisher Correction: Analysis of global human gut metagenomes shows that metabolic resilience potential for short-chain fatty acid production is strongly influenced by lifestyle

Author

Jacobson, David K., Honap, Tanvi P., Ozga, Andrew T., Meda, Nicolas, Kagoné, Thérèse S., Carabin, Hélène, Spicer, Paul, Tito, Raul Y., Obregon-Tito, Alexandra J., Reyes, Luis Marin, Troncoso-Corzo, Luzmila, Guija-Poma, Emilio, Sankaranarayanan, Krithivasan, and Lewis, Jr., Cecil M.

Published
2021
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26. Distributed Source Coding using Abelian Group Codes

Author

Krithivasan, Dinesh and Pradhan, S. Sandeep

Subjects
Computer Science - Information Theory
Abstract

In this work, we consider a distributed source coding problem with a joint distortion criterion depending on the sources and the reconstruction. This includes as a special case the problem of computing a function of the sources to within some distortion and also the classic Slepian-Wolf problem, Berger-Tung problem, Wyner-Ziv problem, Yeung-Berger problem and the Ahlswede-Korner-Wyner problem. While the prevalent trend in information theory has been to prove achievability results using Shannon's random coding arguments, using structured random codes offer rate gains over unstructured random codes for many problems. Motivated by this, we present a new achievable rate-distortion region for this problem for discrete memoryless sources based on "good" structured random nested codes built over abelian groups. We demonstrate rate gains for this problem over traditional coding schemes using random unstructured codes. For certain sources and distortion functions, the new rate region is strictly bigger than the Berger-Tung rate region, which has been the best known achievable rate region for this problem till now. Further, there is no known unstructured random coding scheme that achieves these rate gains. Achievable performance limits for single-user source coding using abelian group codes are also obtained as parts of the proof of the main coding theorem. As a corollary, we also prove that nested linear codes achieve the Shannon rate-distortion bound in the single-user setting.

Published
2008

27. Lattices for Distributed Source Coding: Jointly Gaussian Sources and Reconstruction of a Linear Function

Author

Krithivasan, D. and Pradhan, S. S.

Subjects
Computer Science - Information Theory
Abstract

Consider a pair of correlated Gaussian sources (X1,X2). Two separate encoders observe the two components and communicate compressed versions of their observations to a common decoder. The decoder is interested in reconstructing a linear combination of X1 and X2 to within a mean-square distortion of D. We obtain an inner bound to the optimal rate-distortion region for this problem. A portion of this inner bound is achieved by a scheme that reconstructs the linear function directly rather than reconstructing the individual components X1 and X2 first. This results in a better rate region for certain parameter values. Our coding scheme relies on lattice coding techniques in contrast to more prevalent random coding arguments used to demonstrate achievable rate regions in information theory. We then consider the case of linear reconstruction of K sources and provide an inner bound to the optimal rate-distortion region. Some parts of the inner bound are achieved using the following coding structure: lattice vector quantization followed by "correlated" lattice-structured binning., Comment: 33 pages, 7 figures

Published
2007

35. The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

Author

Xie, Jingyuan, Liu, Lili, Mladkova, Nikol, Li, Yifu, Ren, Hong, Wang, Weiming, Cui, Zhao, Lin, Li, Hu, Xiaofan, Yu, Xialian, Xu, Jing, Liu, Gang, Caliskan, Yasar, Sidore, Carlo, Balderes, Olivia, Rosen, Raphael J., Bodria, Monica, Zanoni, Francesca, Zhang, Jun Y., Krithivasan, Priya, Mehl, Karla, Marasa, Maddalena, Khan, Atlas, Ozay, Fatih, Canetta, Pietro A., Bomback, Andrew S., Appel, Gerald B., Sanna-Cherchi, Simone, Sampson, Matthew G., Mariani, Laura H., Perkowska-Ptasinska, Agnieszka, Durlik, Magdalena, Mucha, Krzysztof, Moszczuk, Barbara, Foroncewicz, Bartosz, Pączek, Leszek, Habura, Ireneusz, Ars, Elisabet, Ballarin, Jose, Mani, Laila-Yasmin, Vogt, Bruno, Ozturk, Savas, Yildiz, Abdülmecit, Seyahi, Nurhan, Arikan, Hakki, Koc, Mehmet, Basturk, Taner, Karahan, Gonca, Akgul, Sebahat Usta, Sever, Mehmet Sukru, Zhang, Dan, Santoro, Domenico, Bonomini, Mario, Londrino, Francesco, Gesualdo, Loreto, Reiterova, Jana, Tesar, Vladimir, Izzi, Claudia, Savoldi, Silvana, Spotti, Donatella, Marcantoni, Carmelita, Messa, Piergiorgio, Galliani, Marco, Roccatello, Dario, Granata, Simona, Zaza, Gianluigi, Lugani, Francesca, Ghiggeri, GianMarco, Pisani, Isabella, Allegri, Landino, Sprangers, Ben, Park, Jin-Ho, Cho, BeLong, Kim, Yon Su, Kim, Dong Ki, Suzuki, Hitoshi, Amoroso, Antonio, Cattran, Daniel C., Fervenza, Fernando C., Pani, Antonello, Hamilton, Patrick, Harris, Shelly, Gupta, Sanjana, Cheshire, Chris, Dufek, Stephanie, Issler, Naomi, Pepper, Ruth J., Connolly, John, Powis, Stephen, Bockenhauer, Detlef, Stanescu, Horia C., Ashman, Neil, Loos, Ruth J. F., Kenny, Eimear E., Wuttke, Matthias, Eckardt, Kai-Uwe, Köttgen, Anna, Hofstra, Julia M., Coenen, Marieke J. H., Kiemeney, Lambertus A., Akilesh, Shreeram, Kretzler, Matthias, Beck, Lawrence H., Stengel, Benedicte, Debiec, Hanna, Ronco, Pierre, Wetzels, Jack F. M., Zoledziewska, Magdalena, Cucca, Francesco, Ionita-Laza, Iuliana, Lee, Hajeong, Hoxha, Elion, Stahl, Rolf A. K., Brenchley, Paul, Scolari, Francesco, Zhao, Ming-hui, Gharavi, Ali G., Kleta, Robert, Chen, Nan, and Kiryluk, Krzysztof

Published
2020
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37. Differential preservation of endogenous human and microbial DNA in dental calculus and dentin

Author

Mann, Allison E., Sabin, Susanna, Ziesemer, Kirsten, Vågene, Åshild J., Schroeder, Hannes, Ozga, Andrew T., Sankaranarayanan, Krithivasan, Hofman, Courtney A., Fellows Yates, James A., Salazar-García, Domingo C., Frohlich, Bruno, Aldenderfer, Mark, Hoogland, Menno, Read, Christopher, Milner, George R., Stone, Anne C., Lewis, Jr., Cecil M., Krause, Johannes, Hofman, Corinne, Bos, Kirsten I., and Warinner, Christina

Published
2018
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38. Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract

Author

Verbitsky, Miguel, Westland, Rik, Perez, Alejandra, Kiryluk, Krzysztof, Liu, Qingxue, Krithivasan, Priya, Mitrotti, Adele, Fasel, David A., Batourina, Ekaterina, Sampson, Matthew G., Bodria, Monica, Werth, Max, Kao, Charlly, Martino, Jeremiah, Capone, Valentina P., Vivante, Asaf, Shril, Shirlee, Kil, Byum Hee, Marasa, Maddalena, Zhang, Jun Y., Na, Young-Ji, Lim, Tze Y., Ahram, Dina, Weng, Patricia L., Heinzen, Erin L., Carrea, Alba, Piaggio, Giorgio, Gesualdo, Loreto, Manca, Valeria, Masnata, Giuseppe, Gigante, Maddalena, Cusi, Daniele, Izzi, Claudia, Scolari, Francesco, van Wijk, Joanna A. E., Saraga, Marijan, Santoro, Domenico, Conti, Giovanni, Zamboli, Pasquale, White, Hope, Drozdz, Dorota, Zachwieja, Katarzyna, Miklaszewska, Monika, Tkaczyk, Marcin, Tomczyk, Daria, Krakowska, Anna, Sikora, Przemyslaw, Jarmoliński, Tomasz, Borszewska-Kornacka, Maria K., Pawluch, Robert, Szczepanska, Maria, Adamczyk, Piotr, Mizerska-Wasiak, Malgorzata, Krzemien, Grazyna, Szmigielska, Agnieszka, Zaniew, Marcin, Dobson, Mark G., Darlow, John M., Puri, Prem, Barton, David E., Furth, Susan L., Warady, Bradley A., Gucev, Zoran, Lozanovski, Vladimir J., Tasic, Velibor, Pisani, Isabella, Allegri, Landino, Rodas, Lida M., Campistol, Josep M., Jeanpierre, Cécile, Alam, Shumyle, Casale, Pasquale, Wong, Craig S., Lin, Fangming, Miranda, Débora M., Oliveira, Eduardo A., Simoes-e-Silva, Ana Cristina, Barasch, Jonathan M., Levy, Brynn, Wu, Nan, Hildebrandt, Friedhelm, Ghiggeri, Gian Marco, Latos-Bielenska, Anna, Materna-Kiryluk, Anna, Zhang, Feng, Hakonarson, Hakon, Papaioannou, Virginia E., Mendelsohn, Cathy L., Gharavi, Ali G., and Sanna-Cherchi, Simone

Published
2019
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40. Stratified analyses refine association between TLR7 rare variants and severe COVID-19

Author

Jannik Boos, Caspar I. van der Made, Gayatri Ramakrishnan, Eamon Coughlan, Rosanna Asselta, Britt-Sabina Löscher, Luca V.C. Valenti, Rafael de Cid, Luis Bujanda, Antonio Julià, Erola Pairo-Castineira, J. Kenneth Baillie, Sandra May, Berina Zametica, Julia Heggemann, Agustín Albillos, Jesus M. Banales, Jordi Barretina, Natalia Blay, Paolo Bonfanti, Maria Buti, Javier Fernandez, Sara Marsal, Daniele Prati, Luisa Ronzoni, Nicoletta Sacchi, Joachim L. Schultze, Olaf Riess, Andre Franke, Konrad Rawlik, David Ellinghaus, Alexander Hoischen, Axel Schmidt, Kerstin U. Ludwig, Valeria Rimoldi, Elvezia M. Paraboschi, Alessandra Bandera, Flora Peyvandi, Giacomo Grasselli, Francesco Blasi, Francesco Malvestiti, Serena Pelusi, Cristiana Bianco, Lorenzo Miano, Angela Lombardi, Pietro Invernizzi, Alessio Gerussi, Giuseppe Citerio, Andrea Biondi, Maria Grazia Valsecchi, Marina Elena Cazzaniga, Giuseppe Foti, Ilaria Beretta, Mariella D'Angiò, Laura Rachele Bettini, Xavier Farré, Susana Iraola-Guzmán, Manolis Kogevinas, Gemma Castaño-Vinyals, Koldo Garcia-Etxebarria, Beatriz Nafria, Mauro D'Amato, Adriana Palom, Colin Begg, Sara Clohisey, Charles Hinds, Peter Horby, Julian Knight, Lowell Ling, David Maslove, Danny McAuley, Johnny Millar, Hugh Montgomery, Alistair Nichol, Peter J.M. Openshaw, Alexandre C. Pereira, Chris P. Ponting, Kathy Rowan, Malcolm G. Semple, Manu Shankar-Hari, Charlotte Summers, Timothy Walsh, Latha Aravindan, Ruth Armstrong, Heather Biggs, Ceilia Boz, Adam Brown, Richard Clark, Audrey Coutts, Judy Coyle, Louise Cullum, Sukamal Das, Nicky Day, Lorna Donnelly, Esther Duncan, Angie Fawkes, Paul Fineran, Max Head Fourman, Anita Furlong, James Furniss, Bernadette Gallagher, Tammy Gilchrist, Ailsa Golightly, Fiona Griffiths, Katarzyna Hafezi, Debbie Hamilton, Ross Hendry, Andy Law, Dawn Law, Rachel Law, Sarah Law, Rebecca Lidstone-Scott, Louise Macgillivray, Alan Maclean, Hanning Mal, Sarah McCafferty, Ellie Mcmaster, Jen Meikle, Shona C. Moore, Kirstie Morrice, Lee Murphy, Sheena Murphy, Mybaya Hellen, Wilna Oosthuyzen, Chenqing Zheng, Jiantao Chen, Nick Parkinson, Trevor Paterson, Katherine Schon, Andrew Stenhouse, Mihaela Das, Maaike Swets, Helen Szoor-McElhinney, Filip Taneski, Lance Turtle, Tony Wackett, Mairi Ward, Jane Weaver, Nicola Wrobel, Marie Zechner, Gill Arbane, Aneta Bociek, Sara Campos, Neus Grau, Tim Owen Jones, Rosario Lim, Martina Marotti, Marlies Ostermann, Christopher Whitton, Zoe Alldis, Raine Astin-Chamberlain, Fatima Bibi, Jack Biddle, Sarah Blow, Matthew Bolton, Catherine Borra, Ruth Bowles, Maudrian Burton, Yasmin Choudhury, David Collier, Amber Cox, Amy Easthope, Patrizia Ebano, Stavros Fotiadis, Jana Gurasashvili, Rosslyn Halls, Pippa Hartridge, Delordson Kallon, Jamila Kassam, Ivone Lancoma-Malcolm, Maninderpal Matharu, Peter May, Oliver Mitchelmore, Tabitha Newman, Mital Patel, Jane Pheby, Irene Pinzuti, Zoe Prime, Oleksandra Prysyazhna, Julian Shiel, Melanie Taylor, Carey Tierney, Suzanne Wood, Anne Zak, Olivier Zongo, Stephen Bonner, Keith Hugill, Jessica Jones, Steven Liggett, Evie Headlam, Nageswar Bandla, Minnie Gellamucho, Michelle Davies, Christopher Thompson, Marwa Abdelrazik, Dhanalakshmi Bakthavatsalam, Munzir Elhassan, Arunkumar Ganesan, Anne Haldeos, Jeronimo Moreno-Cuesta, Dharam Purohit, Rachel Vincent, Kugan Xavier, Kumar Rohit, Frater Alasdair, Malik Saleem, Carter David, Jenkins Samuel, Zoe Lamond, Wall Alanna, Jaime Fernandez-Roman, David O. Hamilton, Emily Johnson, Brian Johnston, Maria Lopez Martinez, Suleman Mulla, David Shaw, Alicia A.C. Waite, Victoria Waugh, Ingeborg D. Welters, Karen Williams, Anna Cavazza, Maeve Cockrell, Eleanor Corcoran, Maria Depante, Clare Finney, Ellen Jerome, Mark McPhail, Monalisa Nayak, Harriet Noble, Kevin O'Reilly, Evita Pappa, Rohit Saha, Sian Saha, John Smith, Abigail Knighton, David Antcliffe, Dorota Banach, Stephen Brett, Phoebe Coghlan, Ziortza Fernandez, Anthony Gordon, Roceld Rojo, Sonia Sousa Arias, Maie Templeton, Megan Meredith, Lucy Morris, Lucy Ryan, Amy Clark, Julia Sampson, Cecilia Peters, Martin Dent, Margaret Langley, Saima Ashraf, Shuying Wei, Angela Andrew, Archana Bashyal, Neil Davidson, Paula Hutton, Stuart McKechnie, Jean Wilson, David Baptista, Rebecca Crowe, Rita Fernandes, Rosaleen Herdman-Grant, Anna Joseph, Denise O'Connor, Meryem Allen, Adam Loveridge, India McKenley, Eriko Morino, Andres Naranjo, Richard Simms, Kathryn Sollesta, Andrew Swain, Harish Venkatesh, Jacyntha Khera, Jonathan Fox, Gillian Andrew, Lucy Barclay, Marie Callaghan, Rachael Campbell, Sarah Clark, Dave Hope, Lucy Marshall, Corrienne McCulloch, Kate Briton, Jo Singleton, Sohphie Birch, Lutece Brimfield, Zoe Daly, David Pogson, Steve Rose, Ceri Battle, Elaine Brinkworth, Rachel Harford, Carl Murphy, Luke Newey, Tabitha Rees, Marie Williams, Sophie Arnold, Petra Polgarova, Katerina Stroud, Eoghan Meaney, Megan Jones, Anthony Ng, Shruti Agrawal, Nazima Pathan, Deborah White, Esther Daubney, Kay Elston, Lina Grauslyte, Musarat Hussain, Mandeep Phull, Tatiana Pogreban, Lace Rosaroso, Erika Salciute, George Franke, Joanna Wong, Aparna George, Laura Ortiz-Ruiz de Gordoa, Emily Peasgood, Claire Phillips, Michelle Bates, Jo Dasgin, Jaspret Gill, Annette Nilsson, James Scriven, Carlos Castro Delgado, Deborah Dawson, Lijun Ding, Georgia Durrant, Obiageri Ezeobu, Sarah Farnell-Ward, Abiola Harrison, Rebecca Kanu, Susannah Leaver, Elena Maccacari, Soumendu Manna, Romina Pepermans Saluzzio, Joana Queiroz, Tinashe Samakomva, Christine Sicat, Joana Texeira, Edna Fernandes Da Gloria, Ana Lisboa, John Rawlins, Jisha Mathew, Ashley Kinch, William James Hurt, Nirav Shah, Victoria Clark, Maria Thanasi, Nikki Yun, Kamal Patel, Sara Bennett, Emma Goodwin, Matthew Jackson, Alissa Kent, Clare Tibke, Wiesia Woodyatt, Ahmed Zaki, Azmerelda Abraheem, Peter Bamford, Kathryn Cawley, Charlie Dunmore, Maria Faulkner, Rumanah Girach, Helen Jeffrey, Rhianna Jones, Emily London, Imrun Nagra, Farah Nasir, Hannah Sainsbury, Clare Smedley, Tahera Patel, Matthew Smith, Srikanth Chukkambotla, Aayesha Kazi, Janice Hartley, Joseph Dykes, Muhammad Hijazi, Sarah Keith, Meherunnisa Khan, Janet Ryan-Smith, Philippa Springle, Jacqueline Thomas, Nick Truman, Samuel Saad, Dabheoc Coleman, Christopher Fine, Roseanna Matt, Bethan Gay, Jack Dalziel, Syamlan Ali, Drew Goodchild, Rhiannan Harling, Ravi Bhatterjee, Wendy Goddard, Chloe Davison, Stephen Duberly, Jeanette Hargreaves, Rachel Bolton, Miriam Davey, David Golden, Rebecca Seaman, Shiney Cherian, Sean Cutler, Anne Emma Heron, Anna Roynon-Reed, Tamas Szakmany, Gemma Williams, Owen Richards, Yusuf Cheema, Hollie Brooke, Sarah Buckley, Jose Cebrian Suarez, Ruth Charlesworth, Karen Hansson, John Norris, Alice Poole, Alastair Rose, Rajdeep Sandhu, Brendan Sloan, Elizabeth Smithson, Muthu Thirumaran, Veronica Wagstaff, Alexandra Metcalfe, Mark Brunton, Jess Caterson, Holly Coles, Matthew Frise, Sabi Gurung Rai, Nicola Jacques, Liza Keating, Emma Tilney, Shauna Bartley, Parminder Bhuie, Sian Gibson, Amanda Lyle, Fiona McNeela, Jayachandran Radhakrishnan, Alistair Hughes, Bryan Yates, Jessica Reynolds, Helen Campbell, Maria Thompsom, Steve Dodds, Stacey Duffy, Sandra Greer, Karen Shuker, Ascanio Tridente, Reena Khade, Ashok Sundar, George Tsinaslanidis, Isobel Birkinshaw, Joseph Carter, Kate Howard, Joanne Ingham, Rosie Joy, Harriet Pearson, Samantha Roche, Zoe Scott, Hollie Bancroft, Mary Bellamy, Margaret Carmody, Jacqueline Daglish, Faye Moore, Joanne Rhodes, Mirriam Sangombe, Salma Kadiri, Maria Croft, Ian White, Victoria Frost, Maia Aquino, Rajeev Jha, Vinodh Krishnamurthy, Lai Lim, Li Lim, Edward Combes, Teishel Joefield, Sonja Monnery, Valerie Beech, Sallyanne Trotman, Christine Almaden-Boyle, Pauline Austin, Louise Cabrelli, Stephen Cole, Matt Casey, Susan Chapman, Clare Whyte, Yolanda Baird, Aaron Butler, Indra Chadbourn, Linda Folkes, Heather Fox, Amy Gardner, Raquel Gomez, Gillian Hobden, Luke Hodgson, Kirsten King, Michael Margarson, Tim Martindale, Emma Meadows, Dana Raynard, Yvette Thirlwall, David Helm, Jordi Margalef, Kristine Criste, Rebecca Cusack, Kim Golder, Hannah Golding, Oliver Jones, Samantha Leggett, Michelle Male, Martyna Marani, Kirsty Prager, Toran Williams, Belinda Roberts, Karen Salmon, Peter Anderson, Katie Archer, Karen Austin, Caroline Davis, Alison Durie, Olivia Kelsall, Jessica Thrush, Charlie Vigurs, Laura Wild, Hannah-Louise Wood, Helen Tranter, Alison Harrison, Nicholas Cowley, Michael McAlindon, Andrew Burtenshaw, Stephen Digby, Emma Low, Aled Morgan, Naiara Cother, Tobias Rankin, Sarah Clayton, Alex McCurdy, Cecilia Ahmed, Balvinder Baines, Sarah Clamp, Julie Colley, Risna Haq, Anne Hayes, Jonathan Hulme, Samia Hussain, Sibet Joseph, Rita Kumar, Zahira Maqsood, Manjit Purewal, Leonie Benham, Zena Bradshaw, Joanna Brown, Melanie Caswell, Jason Cupitt, Sarah Melling, Stephen Preston, Nicola Slawson, Emma Stoddard, Scott Warden, Bethan Deacon, Ceri Lynch, Carla Pothecary, Lisa Roche, Gwenllian Sera Howe, Jayaprakash Singh, Keri Turner, Hannah Ellis, Natalie Stroud, Jodie Hunt, Joy Dearden, Emma Dobson, Andy Drummond, Michelle Mulcahy, Sheila Munt, Grainne O'Connor, Jennifer Philbin, Chloe Rishton, Redmond Tully, Sarah Winnard, Susanne Cathcart, Katharine Duffy, Alex Puxty, Kathryn Puxty, Lynne Turner, Jane Ireland, Gary Semple, Kate Long, Simon Whiteley, Elizabeth Wilby, Bethan Ogg, Amanda Cowton, Andrea Kay, Melanie Kent, Kathryn Potts, Ami Wilkinson, Suzanne Campbell, Ellen Brown, Julie Melville, Jay Naisbitt, Rosane Joseph, Maria Lazo, Olivia Walton, Alan Neal, Peter Alexander, Schvearn Allen, Joanne Bradley-Potts, Craig Brantwood, Jasmine Egan, Timothy Felton, Grace Padden, Luke Ward, Stuart Moss, Susannah Glasgow, Lynn Abel, Michael Brett, Brian Digby, Lisa Gemmell, James Hornsby, Patrick MacGoey, Pauline O'Neil, Richard Price, Natalie Rodden, Kevin Rooney, Radha Sundaram, Nicola Thomson, Bridget Hopkins, Laura Thrasyvoulou, Heather Willis, Martyn Clark, Martina Coulding, Edward Jude, Jacqueline McCormick, Oliver Mercer, Darsh Potla, Hafiz Rehman, Heather Savill, Victoria Turner, Charlotte Downes, Kathleen Holding, Katie Riches, Mary Hilton, Mel Hayman, Deepak Subramanian, Priya Daniel, Oluronke Adanini, Nikhil Bhatia, Maines Msiska, Rebecca Collins, Ian Clement, Bijal Patel, A. Gulati, Carole Hays, K. Webster, Anne Hudson, Andrea Webster, Elaine Stephenson, Louise McCormack, Victoria Slater, Rachel Nixon, Helen Hanson, Maggie Fearby, Sinead Kelly, Victoria Bridgett, Philip Robinson, Julie Camsooksai, Charlotte Humphrey, Sarah Jenkins, Henrik Reschreiter, Beverley Wadams, Yasmin Death, Victoria Bastion, Daphene Clarke, Beena David, Harriet Kent, Rachel Lorusso, Gamu Lubimbi, Sophie Murdoch, Melchizedek Penacerrada, Alastair Thomas, Jennifer Valentine, Ana Vochin, Retno Wulandari, Brice Djeugam, Gillian Bell, Katy English, Amro Katary, Louise Wilcox, Michelle Bruce, Karen Connolly, Tracy Duncan, Helen T-Michael, Gabriella Lindergard, Samuel Hey, Claire Fox, Jordan Alfonso, Laura Jayne Durrans, Jacinta Guerin, Bethan Blackledge, Jade Harris, Martin Hruska, Ayaa Eltayeb, Thomas Lamb, Tracey Hodgkiss, Lisa Cooper, Joanne Rothwell, Angela Allan, Felicity Anderson, Callum Kaye, Jade Liew, Jasmine Medhora, Teresa Scott, Erin Trumper, Adriana Botello, Liana Lankester, Nikitas Nikitas, Colin Wells, Bethan Stowe, Kayleigh Spencer, Craig Brandwood, Lara Smith, Katie Birchall, Laurel Kolakaluri, Deborah Baines, Anila Sukumaran, Elena Apetri, Cathrine Basikolo, Laura Catlow, Bethan Charles, Paul Dark, Reece Doonan, Alice Harvey, Daniel Horner, Karen Knowles, Stephanie Lee, Diane Lomas, Chloe Lyons, Tracy Marsden, Danielle McLaughlan, Liam McMorrow, Jessica Pendlebury, Jane Perez, Maria Poulaka, Nicola Proudfoot, Melanie Slaughter, Kathryn Slevin, Vicky Thomas, Danielle Walker, Angiy Michael, Matthew Collis, Tracey Cosier, Gemma Millen, Neil Richardson, Natasha Schumacher, Heather Weston, James Rand, Nicola Baxter, Steven Henderson, Sophie Kennedy-Hay, Christopher McParland, Laura Rooney, Malcolm Sim, Gordan McCreath, Louise Akeroyd, Shereen Bano, Matt Bromley, Lucy Gurr, Tom Lawton, James Morgan, Kirsten Sellick, Deborah Warren, Brian Wilkinson, Janet McGowan, Camilla Ledgard, Amelia Stacey, Kate Pye, Ruth Bellwood, Michael Bentley, Jeremy Bewley, Zoe Garland, Lisa Grimmer, Bethany Gumbrill, Rebekah Johnson, Katie Sweet, Denise Webster, Georgia Efford, Karen Convery, Deirdre Fottrell-Gould, Lisa Hudig, Jocelyn Keshet-Price, Georgina Randell, Katie Stammers, Maria Bokhari, Vanessa Linnett, Rachael Lucas, Wendy McCormick, Jenny Ritzema, Amanda Sanderson, Helen Wild, Anthony Rostron, Alistair Roy, Lindsey Woods, Sarah Cornell, Fiona Wakinshaw, Kimberley Rogerson, Jordan Jarmain, Robert Parker, Amie Reddy, Ian Turner-Bone, Laura Wilding, Peter Harding, Caroline Abernathy, Louise Foster, Andrew Gratrix, Vicky Martinson, Priyai Parkinson, Elizabeth Stones, Llucia Carbral-Ortega, Georgia Bercades, David Brealey, Ingrid Hass, Niall MacCallum, Gladys Martir, Eamon Raith, Anna Reyes, Deborah Smyth, Letizia Zitter, Sarah Benyon, Suzie Marriott, Linda Park, Samantha Keenan, Elizabeth Gordon, Helen Quinn, Kizzy Baines, Lenka Cagova, Adama Fofano, Lucie Garner, Helen Holcombe, Sue Mepham, Alice Michael Mitchell, Lucy Mwaura, Krithivasan Praman, Alain Vuylsteke, Julie Zamikula, Bally Purewal, Vanessa Rivers, Stephanie Bell, Hayley Blakemore, Borislava Borislavova, Beverley Faulkner, Emma Gendall, Elizabeth Goff, Kati Hayes, Matt Thomas, Ruth Worner, Kerry Smith, Deanna Stephens, Louise Mew, Esther Mwaura, Richard Stewart, Felicity Williams, Lynn Wren, Sara-Beth Sutherland, Emily Bevan, Jane Martin, Dawn Trodd, Geoff Watson, Caroline Wrey Brown, Amy Collins, Waqas Khaliq, Estefania Treus Gude, Olugbenga Akinkugbe, Alasdair Bamford, Emily Beech, Holly Belfield, Michael Bell, Charlene Davies, Gareth A.L. Jones, Tara McHugh, Hamza Meghari, Lauran O'Neill, Mark J. Peters, Samiran Ray, Ana Luisa Tomas, Iona Burn, Geraldine Hambrook, Katarina Manso, Ruth Penn, Pradeep Shanmugasundaram, Julie Tebbutt, Danielle Thornton, Jade Cole, Rhys Davies, Donna Duffin, Helen Hill, Ben Player, Emma Thomas, Angharad Williams, Denise Griffin, Nycola Muchenje, Mcdonald Mupudzi, Richard Partridge, Jo-Anna Conyngham, Rachel Thomas, Mary Wright, Maria Alvarez Corral, Reni Jacob, Cathy Jones, Craig Denmade, Sarah Beavis, Katie Dale, Rachel Gascoyne, Joanne Hawes, Kelly Pritchard, Lesley Stevenson, Amanda Whileman, Patricia Doble, Joanne Hutter, Corinne Pawley, Charmaine Shovelton, Marius Vaida, Deborah Butcher, Susie O'Sullivan, Nicola Butterworth-Cowin, Norfaizan Ahmad, Joann Barker, Kris Bauchmuller, Sarah Bird, Kay Cawthron, Kate Harrington, Yvonne Jackson, Faith Kibutu, Becky Lenagh, Shamiso Masuko, Gary H. Mills, Ajay Raithatha, Matthew Wiles, Jayne Willson, Helen Newell, Alison Lye, Lorenza Nwafor, Claire Jarman, Sarah Rowland-Jones, David Foote, Joby Cole, Roger Thompson, James Watson, Lisa Hesseldon, Irene Macharia, Luke Chetam, Jacqui Smith, Amber Ford, Samantha Anderson, Kathryn Birchall, Kay Housley, Sara Walker, Leanne Milner, Helena Hanratty, Helen Trower, Patrick Phillips, Simon Oxspring, Ben Donne, Catherine Jardine, Dewi Williams, Alasdair Hay, Rebecca Flanagan, Gareth Hughes, Scott Latham, Emma McKenna, Jennifer Anderson, Robert Hull, Kat Rhead, Carina Cruz, Natalie Pattison, Rob Charnock, Denise McFarland, Denise Cosgrove, Ashar Ahmed, Anna Morris, Srinivas Jakkula, Asifa Ali, Megan Brady, Sam Dale, Annalisa Dance, Lisa Gledhill, Jill Greig, Kathryn Hanson, Kelly Holdroyd, Marie Home, Diane Kelly, Ross Kitson, Lear Matapure, Deborah Melia, Samantha Mellor, Tonicha Nortcliffe, Jez Pinnell, Matthew Robinson, Lisa Shaw, Ryan Shaw, Lesley Thomis, Alison Wilson, Tracy Wood, Lee-Ann Bayo, Ekta Merwaha, Tahira Ishaq, Sarah Hanley, Meg Hibbert, Dariusz Tetla, Chrsitopher Woodford, Latha Durga, Gareth Kennard-Holden, Debbie Branney, Jordan Frankham, Sally Pitts, Nigel White, Shondipon Laha, Mark Verlander, Alexandra Williams, Abdelhakim Altabaibeh, Ana Alvaro, Kayleigh Gilbert, Louise Ma, Loreta Mostoles, Chetan Parmar, Kathryn Simpson, Champa Jetha, Lauren Booker, Anezka Pratley, Colene Adams, Anita Agasou, Tracie Arden, Amy Bowes, Pauline Boyle, Mandy Beekes, Heather Button, Nigel Capps, Mandy Carnahan, Anne Carter, Danielle Childs, Denise Donaldson, Kelly Hard, Fran Hurford, Yasmin Hussain, Ayesha Javaid, James Jones, Sanal Jose, Michael Leigh, Terry Martin, Helen Millward, Nichola Motherwell, Rachel Rikunenko, Jo Stickley, Julie Summers, Louise Ting, Helen Tivenan, Louise Tonks, Rebecca Wilcox, Maureen Holland, Natalie Keenan, Marc Lyons, Helen Wassall, Chris Marsh, Mervin Mahenthran, Emma Carter, Thomas Kong, Helen Blackman, Ben Creagh-Brown, Sinead Donlon, Natalia Michalak-Glinska, Sheila Mtuwa, Veronika Pristopan, Armorel Salberg, Eleanor Smith, Sarah Stone, Charles Piercy, Jerik Verula, Dorota Burda, Rugia Montaser, Lesley Harden, Irving Mayangao, Cheryl Marriott, Paul Bradley, Celia Harris, Susan Anderson, Eleanor Andrews, Janine Birch, Emma Collins, Kate Hammerton, Ryan O'Leary, Michele Clark, Sarah Purvis, Russell Barber, Claire Hewitt, Annette Hilldrith, Karen Jackson-Lawrence, Sarah Shepardson, Maryanne Wills, Susan Butler, Silvia Tavares, Amy Cunningham, Julia Hindale, Sarwat Arif, Sarah Bean, Karen Burt, Michael Spivey, Carrie Demetriou, Charlotte Eckbad, Sarah Hierons, Lucy Howie, Sarah Mitchard, Lidia Ramos, Alfredo Serrano-Ruiz, Katie White, Fiona Kelly, Daniele Cristiano, Natalie Dormand, Zohreh Farzad, Mahitha Gummadi, Kamal Liyanage, Brijesh Patel, Sara Salmi, Geraldine Sloane, Vicky Thwaites, Mathew Varghese, Anelise C. Zborowski, John Allan, Tim Geary, Gordon Houston, Alistair Meikle, Peter O'Brien, Miranda Forsey, Agilan Kaliappan, Anne Nicholson, Joanne Riches, Mark Vertue, Elizabeth Allan, Kate Darlington, Ffyon Davies, Jack Easton, Sumit Kumar, Richard Lean, Daniel Menzies, Richard Pugh, Xinyi Qiu, Llinos Davies, Hannah Williams, Jeremy Scanlon, Gwyneth Davies, Callum Mackay, Joannne Lewis, Stephanie Rees, Metod Oblak, Monica Popescu, Mini Thankachen, Andrew Higham, Kerry Simpson, Jayne Craig, Rosie Baruah, Sheila Morris, Susie Ferguson, Amy Shepherd, Luke Stephen Prockter Moore, Marcela Paola Vizcaychipi, Laura Gomes de Almeida Martins, Jaime Carungcong, Inthakab Ali Mohamed Ali, Karen Beaumont, Mark Blunt, Zoe Coton, Hollie Curgenven, Mohamed Elsaadany, Kay Fernandes, Sameena Mohamed Ally, Harini Rangarajan, Varun Sarathy, Sivarupan Selvanayagam, Dave Vedage, Matthew White, Mandy Gill, Paul Paul, Valli Ratnam, Sarah Shelton, Inez Wynter, Siobhain Carmody, Valerie Joan Page, Claire Marie Beith, Karen Black, Suzanne Clements, Alan Morrison, Dominic Strachan, Margaret Taylor, Michelle Clarkson, Stuart D'Sylva, Kathryn Norman, Fiona Auld, Joanne Donnachie, Ian Edmond, Lynn Prentice, Nikole Runciman, Dario Salutous, Lesley Symon, Anne Todd, Patricia Turner, Abigail Short, Laura Sweeney, Euan Murdoch, Dhaneesha Senaratne, Michaela Hill, Thogulava Kannan, Wild Laura, Rikki Crawley, Abigail Crew, Mishell Cunningham, Allison Daniels, Laura Harrison, Susan Hope, Ken Inweregbu, Sian Jones, Nicola Lancaster, Jamie Matthews, Alice Nicholson, Gemma Wray, Helen Langton, Rachel Prout, Malcolm Watters, Catherine Novis, Anthony Barron, Ciara Collins, Sundeep Kaul, Heather Passmore, Claire Prendergast, Anna Reed, Paula Rogers, Rajvinder Shokkar, Meriel Woodruff, Hayley Middleton, Oliver Polgar, Claire Nolan, Kanta Mahay, Dawn Collier, Anil Hormis, Victoria Maynard, Cheryl Graham, Rachel Walker, Ellen Knights, Alicia Price, Alice Thomas, Chris Thorpe, Teresa Behan, Caroline Burnett, Jonathan Hatton, Elaine Heeney, Atideb Mitra, Maria Newton, Rachel Pollard, Rachael Stead, Vishal Amin, Elena Anastasescu, Vikram Anumakonda, Komala Karthik, Rizwana Kausar, Karen Reid, Jacqueline Smith, Janet Imeson-Wood, Denise Skinner, Jane Gaylard, Dee Mullan, Julie Newman, Alison Brown, Vikki Crickmore, Gabor Debreceni, Joy Wilkins, Liz Nicol, Rosie Reece-Anthony, Mark Birt, Alison Ghosh, Emma Williams, Louise Allen, Eva Beranova, Nikki Crisp, Joanne Deery, Tracy Hazelton, Alicia Knight, Carly Price, Sorrell Tilbey, Salah Turki, Sharon Turney, Joshua Cooper, Cheryl Finch, Sarah Liderth, Alison Quinn, Natalia Waddington, Tina Coventry, Susan Fowler, Michael MacMahon, Amanda McGregor, Anne Cowley, Judith Highgate, Jane Gregory, Susan O'Connell, Tim Smith, Luigi Barberis, Shameer Gopal, Nichola Harris, Victoria Lake, Stella Metherell, Elizabeth Radford, Amelia Daniel, Joanne Finn, Rajnish Saha, Nikki White, Phil Donnison, Fiona Trim, Beena Eapen, Jenny Birch, Laura Bough, Josie Goodsell, Rebecca Tutton, Patricia Williams, Sarah Williams, Barbara Winter-Goodwin, Ailstair Nichol, Kathy Brickell, Michelle Smyth, Lorna Murphy, Samantha Coetzee, Alistair Gales, Igor Otahal, Meena Raj, Craig Sell, Paula Hilltout, Jayne Evitts, Amanda Tyler, Joanne Waldron, Kate Beesley, Sarah Board, Agnieszka Kubisz-Pudelko, Alison Lewis, Jess Perry, Lucy Pippard, Di Wood, Clare Buckley, Peter Barry, Neil Flint, Patel Rekha, Dawn Hales, Lara Bunni, Claire Jennings, Monica Latif, Rebecca Marshall, Gayathri Subramanian, Peter J. McGuigan, Christopher Wasson, Stephanie Finn, Jackie Green, Erin Collins, Bernadette King, Andy Campbell, Sara Smuts, Joseph Duffield, Oliver Smith, Lewis Mallon, Watkins Claire, Liam Botfield, Joanna Butler, Catherine Dexter, Jo Fletcher, Atul Garg, Aditya Kuravi, Poonam Ranga, Emma Virgilio, Zakaula Belagodu, Bridget Fuller, Anca Gherman, Olumide Olufuwa, Remi Paramsothy, Carmel Stuart, Naomi Oakley, Charlotte Kamundi, David Tyl, Katy Collins, Pedro Silva, June Taylor, Laura King, Charlotte Coates, Maria Crowley, Phillipa Wakefield, Jane Beadle, Laura Johnson, Janet Sargeant, Madeleine Anderson, Ailbhe Brady, Rebekah Chan, Jeff Little, Shane McIvor, Helena Prady, Helen Whittle, Bijoy Mathew, Ben Attwood, Penny Parsons, Geraldine Ward, Pamela Bremmer, West Joe, Baird Tracy, Ruddy Jim, Ellie Davies, Sonia Sathe, Catherine Dennis, Alastair McGregor, Victoria Parris, Sinduya Srikaran, Anisha Sukha, Noreen Clarke, Jonathan Whiteside, Mairi Mascarenhas, Avril Donaldson, Joanna Matheson, Fiona Barrett, Marianne O'Hara, Laura Okeefe, Clare Bradley, Christine Eastgate-Jackson, Helder Filipe, Daniel Martin, Amitaa Maharajh, Sara Mingo Garcia, Glykeria Pakou, Mark De Neef, Kathy Dent, Elizabeth Horsley, Muhmmad Nauman Akhtar, Sandra Pearson, Dorota Potoczna, Sue Spencer, Melanie Clapham, Rosemary Harper, Una Poultney, Polly Rice, Rachel Mutch, Lisa Armstrong, Hayley Bates, Emma Dooks, Fiona Farquhar, Brigid Hairsine, Chantal McParland, Sophie Packham, Rehana Bi, Barney Scholefield, Lydia Ashton, Linsha George, Sophie Twiss, David Wright, Manish Chablani, Amy Kirkby, Kimberley Netherton, Kim Davies, Linda O'Brien, Zohra Omar, Emma Perkins, Tracy Lewis, Isobel Sutherland, Karen Burns, Dr Ben Chandler, Kerry Elliott, Janine Mallinson, Alison Turnbull, Prisca Gondo, Bernard Hadebe, Abdul Kayani, Bridgett Masunda, Taya Anderson, Dan Hawcutt, Laura O'Malley, Laura Rad, Naomi Rogers, Paula Saunderson, Kathryn Sian Allison, Deborah Afolabi, Jennifer Whitbread, Dawn Jones, Rachael Dore, Matthew Halkes, Pauline Mercer, Lorraine Thornton, Joy Dawson, Sweyn Garrioch, Melanie Tolson, Jonathan Aldridge, Ritoo Kapoor, David Loader, Karen Castle, Sally Humphreys, Ruth Tampsett, Katherine Mackintosh, Amanda Ayers, Wendy Harrison, Julie North, Suzanne Allibone, Roman Genetu, Vidya Kasipandian, Amit Patel, Ainhi Mac, Anthony Murphy, Parisa Mahjoob, Roonak Nazari, Lucy Worsley, Andrew Fagan, Thomas Bemand, Ethel Black, Arnold Dela Rosa, Ryan Howle, Shaman Jhanji, Ravishankar Rao Baikady, Kate Colette Tatham, Benjamin Thomas, Dina Bell, Rosalind Boyle, Katie Douglas, Lynn Glass, Emma Lee, Liz Lennon, Austin Rattray, Abigail Taylor, Rachel Anne Hughes, Helen Thomas, Alun Rees, Michaela Duskova, Janet Phipps, Suzanne Brooks, Michelle Edwards, Sheena Quaid, Ekaterina Watson, Adam Brayne, Emma Fisher, Jane Hunt, Peter Jackson, Duncan Kaye, Nicholas Love, Juliet Parkin, Victoria Tuckey, Lynne Van Koutrik, Sasha Carter, Benedict Andrew, Louise Findlay, Katie Adams, Jen Service, Alison Williams, Claire Cheyne, Anne Saunderson, Sam Moultrie, Miranda Odam, Kathryn Hall, Isheunesu Mapfunde, Charlotte Willis, Alex Lyon, Chunda Sri-Chandana, Joslan Scherewode, Lorraine Stephenson, Sarah Marsh, John Hardy, Henry Houlden, Eleanor Moncur, Ambreen Tariq, Arianna Tucci, Maria Hobrok, Ronda Loosley, Heather McGuinness, Helen Tench, Rebecca Wolf-Roberts, Val Irvine, Benjamin Shelley, Claire Gorman, Abhinav Gupta, Elizabeth Timlick, Rebecca Brady, Barry Milligan, Arianna Bellini, Jade Bryant, Anton Mayer, Amy Pickard, Nicholas Roe, Jason Sowter, Alex Howlett, Katy Fidler, Emma Tagliavini, and Kevin Donnelly

Subjects
SARS-CoV-2, host genetics, toll-like receptor 7, targeted sequencing, rare variants, variant collapsing analysis, Genetics, QH426-470
Abstract

Summary: Despite extensive global research into genetic predisposition for severe COVID-19, knowledge on the role of rare host genetic variants and their relation to other risk factors remains limited. Here, 52 genes with prior etiological evidence were sequenced in 1,772 severe COVID-19 cases and 5,347 population-based controls from Spain/Italy. Rare deleterious TLR7 variants were present in 2.4% of young (

Published
2024
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43. Genomic Disorders in CKD across the Lifespan

Author

Verbitsky, Miguel, Krishnamurthy, Sarathbabu, Krithivasan, Priya, Hughes, Daniel, Khan, Atlas, Marasà, Maddalena, Vena, Natalie, Khosla, Pavan, Zhang, Junying, Lim, Tze Y., Glessner, Joseph T., Weng, Chunhua, Shang, Ning, Shen, Yufeng, Hripcsak, George, Hakonarson, Hakon, Ionita-Laza, Iuliana, Levy, Brynn, Kenny, Eimear E., Loos, Ruth J.F., Kiryluk, Krzysztof, Sanna-Cherchi, Simone, Crosslin, David R., Furth, Susan, Warady, Bradley A., Igo, Robert P., Iyengar, Sudha K., Wong, Craig S., Parsa, Afshin, Feldman, Harold I., and Gharavi, Ali G.

Published
2023
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47. Regional variation in characteristics of patients with decompensated cirrhosis admitted to hospitals in the UK

Author

Tavabie, Oliver D, Abeysekera, Kushala WM, Brennan, Paul N, Marjot, Thomas, Kronsten, Victoria T, Li, Wenhao, Nayagam, Jeremy S, Dhaliwal, Amritpal, Hardy, Tim, Maurice, James B, Zakeri, Nekisa, Abbas, Nadir, Abbasi, Abdullah, Abbott, Jane, Abdul, Rahman, Abdulaziz, Mohamed, Abduljabbar, Duaa, Adamson, Robbie, Adebayo, Danielle, Adhikarla, Aditya Kumar, Adler, Maciej, Afifi, Mostafa, Ahmad, Salman, Ahmed, Shayan, Aithal, Guruprasad, Akram, Ali, Al Radhi, Balqees, Al-Talib, Ismaeel, Alele, Jolomi, Ali, Alaa Mohammed, Almusai, Safa, Appleby, Victoria, Asmat, Huma, Astbury, Sarah, Atkinson, Ali, Badrulhisham, Fakhirah, Balachandrakumar, Vinay K, Ball, Alexandra, Banfa, Moses, Barn, Jeevan, Begum, Shahnaz, Belfield, Katherine, Bendall, Oliver, Bennett, Kris, Bernal, William, Bhandari, Rajan, Bhatti, Prashan, Bradley, Meg, Brown, Edward, Bryce, Kathleen, Buchanan, Ryan, Burke, Laura, Campbell, Roisin, Cargill, Tamsin, Carroll, Geraldine, Cartledge, James, Chatterjee, Devnandan, Chaundry, Rayan, Choudhry, Zeshan, Clare, Kathleen, Cobbold, Jeremy, Coburn, Robert, Cook, Charlotte, Corvan, Fintan, Cox, Rebecca, Craig, Darren, Creamer, John, Curran, Christopher, De Silva, Shanika, Dean, Laurence, Dillon, Jayne, Dillon, John, Dunn, Rebecca, Eckersley, Robert, Eike, Gidveig, Elagib, Amul, Elkholi, Ayman, Elshaarawy, Omar, Faloon, Sarah, Fan, Francis, Fazili, Mohammad, Fernandes, Denzil, Fox, James, Foxton, Matthew, Gaba, Waqas, Gaikwad, Girish, Gairola, Abishek, Galanakis, Vasileios, Gallaher, Charles, Gautam, Nisham, Germain, Lewis, Giles, Ben, Gill, Ceri, Glover, Ben, Glover, John, Gomez, David, Gomez, Michael, Gordon, Victoria, Gormley, Sarah, Goulder, John, Goyal, Simran, Greenham, Olivia, Guthrie, Sarah, Hackett, Richard, Haddadin, Yazan, Hadjinicolaou, Andreas, Hall, Jonathan, Hamza, Mohammed, Haque, Tasnuma, Harris, Rebecca, Hart, Catherine, Hasan, Sundas, Hasnain Nadir, Syed Mujtaba, Hassall, James, Hawker-Bond, George, Hawkyard, Jake, Healey, Scott, Hogan, Brian, Hornby, Catherine, Humayun, MD, Hutchison, John, Iftikhar, Zahra, Ismail, Asem, James, Joel, Jones, Rebecca, Jopson, Laura, Juthani, Dipal, Kaina, Philippa, Karim, Aadil, Karim, Syed Misbah, Kashyap, Vaishnavi, Kassab, Mohamed, Katarey, Dev, Kenny, Lee, Kerry, Georgina, Khan, Adnan, Khan, Ayesha, Khan, Azab, Khan, Muhammad Taha, Khan, Tahir, Khatib, Aseil, Khattak, Mohammad Fawad, King, Ji Jade, Kooner, Emily, Korani, Mohammed, Kotha, Sreelakshmi, Lam, Wai Liam, Lateef, Mohammed, Leighton, Jess, Leith, Damien, Liaros, Angela, Liu Yin, James, Lourenco, Floyd, Lyles, Annabel, Macken, Lucia, Magee, Ciaran, Maggs, Daniel, Mahalingam, Aarani, Mahenthiran, Midusa, Mahmood, Rizwan, Mandour, Mandour Omer, Manocha, Namita, Mansour, Dina, Marks, Daniella, Martin, Ciara, Martin, Harry, Martin, Iana, Martin, Katherine, Maruthan, Sachan, Masin, Rhys, Mason, Denise, Matthews, Charmaine, Mavrou, Athina, Maxan, Ema, Maxfield, Dominic, McAvoy, Emma, McCaughan, Hannah, McColl, Kirsty, McCorry, Roger, McDonald, Stewart, McDowell, Hannah, McGoran, John, McIlwane, Stewart, McPherson, Stuart, Meakin, Olivia, Mebarek, Leila, Merrill, Hannah, Michail, Stephanie, Modarres, Pedram, Mohamedali, Alaa, Mohammed, Yaser, Mohammed, Zakiuddin, Mohan, Jaiganesh, Monnier, Chloe, Moran, Eilis, Moroni, Francesca, Morrison, Gary, Msaddi, Anas, Mutar, Sarah, Nahed, Ismail, Navaratnam, Janardhan, Neto-Pereira, Luis, Ng, Jennifer, Nwoguh, Chinonso, O'Kane, Rebecca, Omar, Sohail, Ososanya, Abosede, Parambil, Jessiya Veliyankodan, Patel, Jay, Pericleous, Marinos, Pervais, Zeshan, Phoolchund, Anju, Pietrzycki, Julian, Pillay, Lushen, Pohl, Keith, Prabhu, Kiran, Putri, Yesita Rizky F., Qazi, Umang, Rafique, Khizar Khalid, Raghuraman, Arun, Raman, Krithivasan, Ranade, Vaishali, Rastelli, Francesca, Ratcliffe, Elizabeth, Rattehalli, Deepa, Raza, Tufail, Razak, Amir, Read, George, Robins, Anne, Rowe, Ian, Rushbrook, Simon, Salama, Mohamed, Saravan, Ramasamy, Sarkar, Srishti, Saunsbury, Emma, Scott, Jennifer, Serna, Solange, Shahzad, Hassnain, Shamsaldeen, Mohammed, Sharip, Mohammed, Shearer, Jessica, Sheikh, Adam, Sheiybani, Giovanna, Sherwin, Michelle, Sheth, Abhishek, Shintre, Nidhi, Singhal, Saket, Sinha, Rohit, Sinharay, Ricky, Smith, Gloria, Smith, Ria, Snowdon, Victoria, Spicer, Joanne, Spoor, Johannes, Sreenivasan, Shiva, Srinivasa, Amar, Srivastava, Ankur, St. Aimee, Louise, Stagg, Georgia, Stanley, Jatinder, Stevenson, Jason, Stokes, Daniel, Stroud, Robert, Subhani, Mohsan, Suliman, Hiba, Sultana, Marium, Summers, Nikki, Sutherland, Chloe, Swann, Rachael, Sykes, Lynne, Taha, Mostafa, Tan, Kwei Eng, Tariq, Zohaib, Tay, Joshua Jun Ming, Taylor, Alison, Thakor, Amit, Tsang, James, Turner, Lucy, Tyler, Zaccharie, Unitt, Esther, Volcek, Edward, Watson, Iona, Watters, Chris, Wells, Gemma, White, Helen, Widlak, Monika, Williams, Matthew, Wischhusen, Jack, Woodland, Hazel, Wren, Louise, Xyda, Souzana, Yeh, Julian, Young, Alison, and Yuan, Jack Shie Jie

Published
2023
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48. The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

Author

Xie, J, Liu, L., Mladkova, N., Li, Yifu, Ren, H., Wang, W., Cui, Z., Lin, L., Hu, X., Yu, X, Xu, J, Liu, G., Caliskan, Y., Sidore, C., Balderes, O., Rosen, R.J., Bodria, M., Zanoni, F., Zhang, J.Y., Krithivasan, P., Mehl, K., Marasa, M., Khan, A., Ozay, F., Canetta, P.A., Bomback, A.S., Appel, G.B., Sanna-Cherchi, S., Sampson, M.G., Mariani, L.H., Perkowska-Ptasinska, A., Durlik, M., Mucha, K., Moszczuk, B., Foroncewicz, B., Paczek, L., Habura, I., Ars, E., Ballarin, J., Mani, L.Y., Vogt, B., Ozturk, S., Yildiz, A., Seyahi, N., Arikan, H., Koc, M., Basturk, T., Karahan, G., Akgul, S.U., Sever, M.S., Zhang, D., Santoro, D., Bonomini, M., Londrino, F., Gesualdo, L., Reiterova, J., Tesar, V., Izzi, C., Savoldi, S., Spotti, D., Marcantoni, C., Messa, P., Galliani, M., Roccatello, D., Granata, S., Zaza, G., Lugani, F., Ghiggeri, G., Pisani, I., Allegri, L., Sprangers, B., Park, J.H., Cho, B., Kim, Y.S., Kim, D.K., Suzuki, H, Amoroso, A., Cattran, D.C., Fervenza, F.C., Pani, A., Hamilton, P., Harris, S., Gupta, S., Cheshire, C., Dufek, S., Issler, N., Pepper, R.J., Connolly, J., Powis, S., Bockenhauer, D., Stanescu, H.C., Ashman, N., Loos, R.J., Kenny, E.E., Wuttke, M., Eckardt, K.U., Kottgen, A., Hofstra, J.M., Coenen, M.J.H., Kiemeney, L.A.L.M., Wetzels, J., Chen, N., Kiryluk, K., Xie, J, Liu, L., Mladkova, N., Li, Yifu, Ren, H., Wang, W., Cui, Z., Lin, L., Hu, X., Yu, X, Xu, J, Liu, G., Caliskan, Y., Sidore, C., Balderes, O., Rosen, R.J., Bodria, M., Zanoni, F., Zhang, J.Y., Krithivasan, P., Mehl, K., Marasa, M., Khan, A., Ozay, F., Canetta, P.A., Bomback, A.S., Appel, G.B., Sanna-Cherchi, S., Sampson, M.G., Mariani, L.H., Perkowska-Ptasinska, A., Durlik, M., Mucha, K., Moszczuk, B., Foroncewicz, B., Paczek, L., Habura, I., Ars, E., Ballarin, J., Mani, L.Y., Vogt, B., Ozturk, S., Yildiz, A., Seyahi, N., Arikan, H., Koc, M., Basturk, T., Karahan, G., Akgul, S.U., Sever, M.S., Zhang, D., Santoro, D., Bonomini, M., Londrino, F., Gesualdo, L., Reiterova, J., Tesar, V., Izzi, C., Savoldi, S., Spotti, D., Marcantoni, C., Messa, P., Galliani, M., Roccatello, D., Granata, S., Zaza, G., Lugani, F., Ghiggeri, G., Pisani, I., Allegri, L., Sprangers, B., Park, J.H., Cho, B., Kim, Y.S., Kim, D.K., Suzuki, H, Amoroso, A., Cattran, D.C., Fervenza, F.C., Pani, A., Hamilton, P., Harris, S., Gupta, S., Cheshire, C., Dufek, S., Issler, N., Pepper, R.J., Connolly, J., Powis, S., Bockenhauer, D., Stanescu, H.C., Ashman, N., Loos, R.J., Kenny, E.E., Wuttke, M., Eckardt, K.U., Kottgen, A., Hofstra, J.M., Coenen, M.J.H., Kiemeney, L.A.L.M., Wetzels, J., Chen, N., and Kiryluk, K.

Abstract

Contains fulltext : 220480.pdf (publisher's version ) (Open Access), Membranous Nephropathy (MN) is a rare autoimmune cause of kidney failure. Here we report a genome-wide association study (GWAS) for primary MN in 3,782 cases and 9,038 controls of East Asian and European ancestries. We discover two previously unreported loci, NFKB1 (rs230540, OR = 1.25, P = 3.4 x 10(-12)) and IRF4 (rs9405192, OR = 1.29, P = 1.4 x 10(-14)), fine-map the PLA2R1 locus (rs17831251, OR = 2.25, P = 4.7 x 10(-103)) and report ancestry-specific effects of three classical HLA alleles: DRB1*1501 in East Asians (OR = 3.81, P = 2.0 x 10(-49)), DQA1*0501 in Europeans (OR = 2.88, P = 5.7 x 10(-93)), and DRB1*0301 in both ethnicities (OR = 3.50, P = 9.2 x 10(-23) and OR = 3.39, P = 5.2 x 10(-82), respectively). GWAS loci explain 32% of disease risk in East Asians and 25% in Europeans, and correctly re-classify 20-37% of the cases in validation cohorts that are antibody-negative by the serum anti-PLA2R ELISA diagnostic test. Our findings highlight an unusual genetic architecture of MN, with four loci and their interactions accounting for nearly one-third of the disease risk.

Published
2020

50. Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract (Nature Genetics, (2019), 51, 1, (117-127), 10.1038/s41588-018-0281-y)

Author

Verbitsky, M., Westland, R., Perez, A., Kiryluk, K., Liu, Q., Krithivasan, P., Mitrotti, A., Fasel, D. A., Batourina, E., Sampson, M. G., Bodria, M., Werth, M., Kao, C., Martino, J., Capone, V. P., Vivante, A., Shril, S., Kil, B. H., Marasa, M., Zhang, J. Y., Y. -J., Na, Lim, T. Y., Ahram, D., Weng, P. L., Heinzen, E. L., Carrea, A., Piaggio, G., Gesualdo, L., Manca, V., Masnata, G., Gigante, M., Cusi, D., Izzi, C., Scolari, F., van Wijk, J. A. E., Saraga, M., Santoro, D., Conti, G., Zamboli, P., White, H., Drozdz, D., Zachwieja, K., Miklaszewska, M., Tkaczyk, M., Tomczyk, D., Krakowska, A., Sikora, P., Jarmolinski, T., Borszewska-Kornacka, M. K., Pawluch, R., Szczepanska, M., Adamczyk, P., Mizerska-Wasiak, M., Krzemien, G., Szmigielska, A., Zaniew, M., Dobson, M. G., Darlow, J. M., Puri, P., Barton, D. E., Furth, S. L., Warady, B. A., Gucev, Z., Lozanovski, V. J., Tasic, V., Pisani, I., Allegri, L., Rodas, L. M., Campistol, J. M., Jeanpierre, C., Alam, S., Casale, P., Wong, C. S., Lin, F., Miranda, D. M., Oliveira, E. A., Simoes-e-Silva, A. C., Barasch, J. M., Levy, B., Wu, N., Hildebrandt, F., Ghiggeri, G. M., Latos-Bielenska, A., Materna-Kiryluk, A., Zhang, F., Hakonarson, H., Papaioannou, V. E., Mendelsohn, C. L., Gharavi, A. G., and Sanna-Cherchi, S.

Subjects
renal, genetics, cakut
Published
2019

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