Origins and functional impact of copy number variation in the human genome
Scherer, Stephen W, Hurles, Matthew E, Conrad, Donald F, Pinto, Dalila, Redon, Richard, Feuk, Lars, Gokcumen, Omer, Zhang, Yujun, Aerts, Jan, Andrews, T. Daniel, Barnes, Chris, Campbell, Peter, Fitzgerald, Tomas, Hu, Min, Ihm, Chun Hwa, Kristiansson, Kati, MacArthur, Daniel G, MacDonald, Jeffrey R, Onyiah, Ifejinelo, Pang, Andy Wing Chun, Robson, Sam, Stirrups, Kathy, Valsesia, Armand, Walter, Klaudia, Wei, John, Tyler-Smith, Chris, Carter, Nigel P, Lee, Charles
Published in Nature (London) (01.04.2010)
Published in Nature (London) (01.04.2010)
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Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases
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Published in Nature medicine (01.09.2021)
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Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease
Watt, Stephen, Vasquez, Louella, Walter, Klaudia, Mann, Alice L., Kundu, Kousik, Chen, Lu, Sims, Ying, Ecker, Simone, Burden, Frances, Farrow, Samantha, Farr, Ben, Iotchkova, Valentina, Elding, Heather, Mead, Daniel, Tardaguila, Manuel, Ponstingl, Hannes, Richardson, David, Datta, Avik, Flicek, Paul, Clarke, Laura, Downes, Kate, Pastinen, Tomi, Fraser, Peter, Frontini, Mattia, Javierre, Biola-Maria, Spivakov, Mikhail, Soranzo, Nicole
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Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom
Chheda, Himanshu, Palta, Priit, Pirinen, Matti, McCarthy, Shane, Walter, Klaudia, Koskinen, Seppo, Salomaa, Veikko, Daly, Mark, Durbin, Richard, Palotie, Aarno, Aittokallio, Tero, Ripatti, Samuli
Published in European journal of human genetics : EJHG (01.04.2017)
Published in European journal of human genetics : EJHG (01.04.2017)
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Estimating Genome-Wide Significance for Whole-Genome Sequencing Studies
Xu, ChangJiang, Tachmazidou, Ioanna, Walter, Klaudia, Ciampi, Antonio, Zeggini, Eleftheria, Greenwood, Celia M. T.
Published in Genetic epidemiology (01.05.2014)
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Genetic architecture of routinely acquired blood tests in a British South Asian cohort
Jacobs, Benjamin M., Stow, Daniel, Hodgson, Sam, Zöllner, Julia, Samuel, Miriam, Kanoni, Stavroula, Bidi, Saeed, Walter, Klaudia, Langenberg, Claudia, Dobson, Ruth, Finer, Sarah, Morton, Caroline, Siddiqui, Moneeza K., Martin, Hilary C., Pietzner, Maik, Mathur, Rohini, van Heel, David A.
Published in Nature communications (16.10.2024)
Published in Nature communications (16.10.2024)
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A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology
Akbari, Parsa, Vuckovic, Dragana, Stefanucci, Luca, Jiang, Tao, Kundu, Kousik, Kreuzhuber, Roman, Bao, Erik L., Collins, Janine H., Downes, Kate, Grassi, Luigi, Guerrero, Jose A., Kaptoge, Stephen, Knight, Julian C., Meacham, Stuart, Sambrook, Jennifer, Seyres, Denis, Stegle, Oliver, Verboon, Jeffrey M., Walter, Klaudia, Watkins, Nicholas A., Danesh, John, Roberts, David J., Di Angelantonio, Emanuele, Sankaran, Vijay G., Frontini, Mattia, Burgess, Stephen, Kuijpers, Taco, Peters, James E., Butterworth, Adam S., Ouwehand, Willem H., Soranzo, Nicole, Astle, William J.
Published in Nature communications (18.08.2023)
Published in Nature communications (18.08.2023)
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Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits
Gilly, Arthur, Suveges, Daniel, Kuchenbaecker, Karoline, Pollard, Martin, Southam, Lorraine, Hatzikotoulas, Konstantinos, Farmaki, Aliki-Eleni, Bjornland, Thea, Waples, Ryan, Appel, Emil V. R., Casalone, Elisabetta, Melloni, Giorgio, Kilian, Britt, Rayner, Nigel W., Ntalla, Ioanna, Kundu, Kousik, Walter, Klaudia, Danesh, John, Butterworth, Adam, Barroso, Inês, Tsafantakis, Emmanouil, Dedoussis, George, Moltke, Ida, Zeggini, Eleftheria
Published in Nature communications (07.11.2018)
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Highly conserved non-coding sequences are associated with vertebrate development
Woolfe, Adam, Goodson, Martin, Goode, Debbie K, Snell, Phil, McEwen, Gayle K, Vavouri, Tanya, Smith, Sarah F, North, Phil, Callaway, Heather, Kelly, Krys, Walter, Klaudia, Abnizova, Irina, Gilks, Walter, Edwards, Yvonne J K, Cooke, Julie E, Elgar, Greg
Published in PLoS biology (01.01.2005)
Published in PLoS biology (01.01.2005)
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The influence of rare variants in circulating metabolic biomarkers
Riveros-Mckay, Fernando, Oliver-Williams, Clare, Karthikeyan, Savita, Walter, Klaudia, Kundu, Kousik, Ouwehand, Willem H, Roberts, David, Di Angelantonio, Emanuele, Soranzo, Nicole, Danesh, John, Wheeler, Eleanor, Zeggini, Eleftheria, Butterworth, Adam S, Barroso, Inês
Published in PLoS genetics (09.03.2020)
Published in PLoS genetics (09.03.2020)
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Author Correction: Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits
Gilly, Arthur, Suveges, Daniel, Kuchenbaecker, Karoline, Pollard, Martin, Southam, Lorraine, Hatzikotoulas, Konstantinos, Farmaki, Aliki-Eleni, Bjornland, Thea, Waples, Ryan, Appel, Emil V. R., Casalone, Elisabetta, Melloni, Giorgio, Kilian, Britt, Rayner, Nigel W., Ntalla, Ioanna, Kundu, Kousik, Walter, Klaudia, Danesh, John, Butterworth, Adam, Barroso, Inês, Tsafantakis, Emmanouil, Dedoussis, George, Moltke, Ida, Zeggini, Eleftheria
Published in Nature communications (19.12.2018)
Published in Nature communications (19.12.2018)
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Factors Affecting Human IgE and IgG Responses to Allergen-Like Schistosoma mansoni Antigens: Molecular Structure and Patterns of in vivo Exposure
Fitzsimmons, Colin M., McBeath, Rowena, Joseph, Sarah, Jones, Frances M., Walter, Klaudia, Hoffmann, Karl F., Kariuki, H. Curtis, Mwatha, Joseph K., Kimani, Guchuhi, Kabatereine, Narcis B., Vennervald, Birgitte J., Ouma, John H., Dunne, David W.
Published in International Archives of Allergy and Immunology (01.01.2007)
Published in International Archives of Allergy and Immunology (01.01.2007)
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Quality Control of Common and Rare Variants
Panoutsopoulou, Kalliope, Walter, Klaudia
Published in Methods in molecular biology (Clifton, N.J.) (01.01.2018)
Published in Methods in molecular biology (Clifton, N.J.) (01.01.2018)
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Striking nucleotide frequency pattern at the borders of highly conserved vertebrate non-coding sequences
Walter, Klaudia, Abnizova, Irina, Elgar, Greg, Gilks, Walter R.
Published in Trends in genetics (01.08.2005)
Published in Trends in genetics (01.08.2005)
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GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals
Iotchkova, Valentina, Ritchie, Graham R. S., Geihs, Matthias, Morganella, Sandro, Min, Josine L., Walter, Klaudia, Timpson, Nicholas John, Dunham, Ian, Birney, Ewan, Soranzo, Nicole
Published in Nature genetics (01.02.2019)
Published in Nature genetics (01.02.2019)
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Multiple de novo copy number variations in two subjects with developmental problems and multiple congenital anomalies
Liu, Pengfei, Walter, Klaudia, Writzl, Karin, Gelowani, Violet, Lindsay, Sarah, Carvalho, Claudia MB, Withers, Marjorie, Wiszniewska, Joanna, Patel, Ankita, Rautenstrauss, Bernd, Hurles, Matthew E, Lupski, James R
Published in BMC proceedings (01.10.2012)
Published in BMC proceedings (01.10.2012)
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A reference panel of 64,976 haplotypes for genotype imputation
McCarthy, Shane, Das, Sayantan, Kretzschmar, Warren, Delaneau, Olivier, Wood, Andrew R, Teumer, Alexander, Kang, Hyun Min, Fuchsberger, Christian, Danecek, Petr, Sharp, Kevin, Luo, Yang, Sidore, Carlo, Kwong, Alan, Timpson, Nicholas, Koskinen, Seppo, Vrieze, Scott, Scott, Laura J, Zhang, He, Mahajan, Anubha, Veldink, Jan, Peters, Ulrike, Pato, Carlos, van Duijn, Cornelia M, Gillies, Christopher E, Gandin, Ilaria, Mezzavilla, Massimo, Gilly, Arthur, Cocca, Massimiliano, Traglia, Michela, Angius, Andrea, Barrett, Jeffrey C, Boomsma, Dorrett, Branham, Kari, Breen, Gerome, Brummett, Chad M, Busonero, Fabio, Campbell, Harry, Chan, Andrew, Chen, Sai, Chew, Emily, Collins, Francis S, Corbin, Laura J, Smith, George Davey, Dedoussis, George, Dorr, Marcus, Farmaki, Aliki-Eleni, Ferrucci, Luigi, Forer, Lukas, Fraser, Ross M, Gabriel, Stacey, Levy, Shawn, Groop, Leif, Harrison, Tabitha, Hattersley, Andrew, Holmen, Oddgeir L, Hveem, Kristian, Kretzler, Matthias, Lee, James C, McGue, Matt, Meitinger, Thomas, Melzer, David, Min, Josine L, Mohlke, Karen L, Vincent, John B, Nauck, Matthias, Nickerson, Deborah, Palotie, Aarno, Pato, Michele, Pirastu, Nicola, McInnis, Melvin, Richards, J Brent, Sala, Cinzia, Salomaa, Veikko, Schlessinger, David, Schoenherr, Sebastian, Slagboom, P Eline, Small, Kerrin, Spector, Timothy, Stambolian, Dwight, Tuke, Marcus, Tuomilehto, Jaakko, Van den Berg, Leonard H, Van Rheenen, Wouter, Volker, Uwe, Wijmenga, Cisca, Toniolo, Daniela, Zeggini, Eleftheria, Gasparini, Paolo, Sampson, Matthew G, Wilson, James F, Frayling, Timothy, de Bakker, Paul I W, Swertz, Morris A, McCarroll, Steven, Kooperberg, Charles, Dekker, Annelot, Altshuler, David, Willer, Cristen, Iacono, William, Ripatti, Samuli
Published in Nature genetics (01.10.2016)
Published in Nature genetics (01.10.2016)
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A global reference for human genetic variation
Auton, Adam, Brooks, Lisa D, Durbin, Richard M, Garrison, Erik P, Kang, Hyun Min, Korbel, Jan O, Marchini, Jonathan L, McCarthy, Shane, McVean, Gil A, Abecasis, Gonçalo R
Published in Nature (London) (01.10.2015)
Published in Nature (London) (01.10.2015)
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