Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription

by Marenne, Gaëlle, Hendricks, Audrey E., Perdikari, Aliki, Bounds, Rebecca, Payne, Felicity, Keogh, Julia M., Lelliott, Christopher J., Henning, Elana, Pathan, Saad, Ashford, Sofie, Bochukova, Elena G., Mistry, Vanisha, Daly, Allan, Hayward, Caroline, Wareham, Nicholas J., O’Rahilly, Stephen, Langenberg, Claudia, Wheeler, Eleanor, Zeggini, Eleftheria, Farooqi, I. Sadaf, Barroso, Inês
Published in Cell Metab (2020)

Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy

by Levine, Adam P., Chan, Melanie M.Y., Sadeghi-Alavijeh, Omid, Wong, Edwin K.S., Cook, H. Terence, Ashford, Sofie, Carss, Keren, Christian, Martin T., Hall, Matthew, Harris, Claire Louise, McAlinden, Paul, Marchbank, Kevin J., Marks, Stephen D., Maxwell, Heather, Megy, Karyn, Penkett, Christopher J., Mozere, Monika, Stirrups, Kathleen E., Tuna, Salih, Wessels, Julie, Whitehorn, Deborah, Johnson, Sally A., Gale, Daniel P.
Published in J Am Soc Nephrol (2020)

KSR2 Mutations Are Associated with Obesity, Insulin Resistance, and Impaired Cellular Fuel Oxidation

by Pearce, Laura R., Atanassova, Neli, Banton, Matthew C., Bottomley, Bill, van der Klaauw, Agatha A., Revelli, Jean-Pierre, Hendricks, Audrey, Keogh, Julia M., Henning, Elana, Doree, Deon, Jeter-Jones, Sabrina, Garg, Sumedha, Bochukova, Elena G., Bounds, Rebecca, Ashford, Sofie, Gayton, Emma, Hindmarsh, Peter C., Shield, Julian P.H., Crowne, Elizabeth, Barford, David, Wareham, Nick J., O’Rahilly, Stephen, Murphy, Michael P., Powell, David R., Barroso, Ines, Farooqi, I. Sadaf
Published 2013

LDL-cholesterol concentrations: a genome-wide association study

by Sandhu, Manjinder S, Waterworth, Dawn M, Debenham, Sally L, Wheeler, Eleanor, Papadakis, Konstantinos, Zhao, Jing Hua, Song, Kijoung, Yuan, Xin, Johnson, Toby, Ashford, Sofie, Inouye, Michael, Luben, Robert, Sims, Matthew, Hadley, David, McArdle, Wendy, Barter, Philip, Kesäniemi, Y Antero, Mahley, Robert W, McPherson, Ruth, Grundy, Scott M, Bingham, Sheila A, Khaw, Kay-Tee, Loos, Ruth JF, Waeber, Gérard, Barroso, Inês, Strachan, David P, Deloukas, Panagiotis, Vollenweider, Peter, Wareham, Nicholas J, Mooser, Vincent
Published 2008

Prospective study of insulin-like growth factor-I, insulin-like growth factor-binding protein 3, genetic variants in the IGF1 and IGFBP3 genes and risk of coronary artery disease

by Ricketts, Sally L, Rensing, Katrijn L, Holly, Jeff M, Chen, Li, Young, Elizabeth H, Luben, Robert, Ashford, Sofie, Song, Kijoung, Yuan, Xin, Dehghan, Abbas, Wright, Benjamin J, Waterworth, Dawn M, Mooser, Vincent, Waeber, Gérard, Vollenweider, Peter, Epstein, Stephen E, Burnett, Mary S, Devaney, Joseph M, Hakonarson, Hakon H, Rader, Daniel J, Reilly, Muredach P, Danesh, John, Thompson, Simon G, Dunning, Alison M, van Duijn, Cornelia M, Samani, Nilesh J, McPherson, Ruth, Wareham, Nicholas J, Khaw, Kay-Tee, Boekholdt, S Matthijs, Sandhu, Manjinder S
Published 2011

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity

by Hendricks, Audrey E., Bochukova, Elena G., Marenne, Gaëlle, Keogh, Julia M., Atanassova, Neli, Bounds, Rebecca, Wheeler, Eleanor, Mistry, Vanisha, Henning, Elana, Körner, Antje, Muddyman, Dawn, McCarthy, Shane, Hinney, Anke, Hebebrand, Johannes, Scott, Robert A., Langenberg, Claudia, Wareham, Nick J., Surendran, Praveen, Howson, Joanna M., Butterworth, Adam S., Danesh, John, Nordestgaard, Børge G, Nielsen, Sune F, Afzal, Shoaib, Papadia, Sofia, Ashford, Sofie, Garg, Sumedha, Millhauser, Glenn L., Palomino, Rafael I., Kwasniewska, Alexandra, Tachmazidou, Ioanna, O’Rahilly, Stephen, Zeggini, Eleftheria, Barroso, Inês, Farooqi, I. Sadaf
Published in Sci Rep (2017)

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

by Whitworth, James, Smith, Philip S., Martin, Jose-Ezequiel, West, Hannah, Luchetti, Andrea, Rodger, Faye, Clark, Graeme, Carss, Keren, Stephens, Jonathan, Stirrups, Kathleen, Penkett, Chris, Mapeta, Rutendo, Ashford, Sofie, Megy, Karyn, Shakeel, Hassan, Ahmed, Munaza, Adlard, Julian, Barwell, Julian, Brewer, Carole, Casey, Ruth T., Armstrong, Ruth, Cole, Trevor, Evans, Dafydd Gareth, Fostira, Florentia, Greenhalgh, Lynn, Hanson, Helen, Henderson, Alex, Hoffman, Jonathan, Izatt, Louise, Kumar, Ajith, Kwong, Ava, Lalloo, Fiona, Ong, Kai Ren, Paterson, Joan, Park, Soo-Mi, Chen-Shtoyerman, Rakefet, Searle, Claire, Side, Lucy, Skytte, Anne-Bine, Snape, Katie, Woodward, Emma R., Tischkowitz, Marc D., Maher, Eamonn R.
Published in Am J Hum Genet (2018)

Common genetic variation drives molecular heterogeneity in human iPSCs

by Kilpinen, Helena, Goncalves, Angela, Leha, Andreas, Afzal, Vackar, Alasoo, Kaur, Ashford, Sofie, Bala, Sendu, Bensaddek, Dalila, Casale, Francesco Paolo, Culley, Oliver J, Danecek, Petr, Faulconbridge, Adam, Harrison, Peter W, Kathuria, Annie, McCarthy, Davis, McCarthy, Shane A, Meleckyte, Ruta, Memari, Yasin, Moens, Nathalie, Soares, Filipa, Mann, Alice, Streeter, Ian, Agu, Chukwuma A, Alderton, Alex, Nelson, Rachel, Harper, Sarah, Patel, Minal, White, Alistair, Patel, Sharad R, Clarke, Laura, Halai, Reena, Kirton, Christopher M, Kolb-Kokocinski, Anja, Beales, Philip, Birney, Ewan, Danovi, Davide, Lamond, Angus I, Ouwehand, Willem H, Vallier, Ludovic, Watt, Fiona M, Durbin, Richard, Stegle, Oliver, Gaffney, Daniel J
Published in Nature (2017)

A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

by Turro, Ernest, Greene, Daniel, Wijgaerts, Anouck, Thys, Chantal, Lentaigne, Claire, Bariana, Tadbir K., Westbury, Sarah K., Kelly, Anne M., Selleslag, Dominik, Stephens, Jonathan C., Papadia, Sofia, Simeoni, Ilenia, Penkett, Christopher J., Ashford, Sofie, Attwood, Antony, Austin, Steve, Bakchoul, Tamam, Collins, Peter, Deevi, Sri V. V., Favier, Rémi, Kostadima, Myrto, Lambert, Michele P., Mathias, Mary, Millar, Carolyn M., Peerlinck, Kathelijne, Perry, David J., Schulman, Sol, Whitehorn, Deborah, Wittevrongel, Christine, De Maeyer, Marc, Rendon, Augusto, Gomez, Keith, Erber, Wendy N., Mumford, Andrew D., Nurden, Paquita, Stirrups, Kathleen, Bradley, John R., Raymond, F. Lucy, Laffan, Michael A., Van Geet, Chris, Richardson, Sylvia, Freson, Kathleen, Ouwehand, Willem H.
Published in Sci Transl Med (2016)

Platelet function is modified by common sequence variation in megakaryocyte super enhancers

by Petersen, Romina, Lambourne, John J., Javierre, Biola M., Grassi, Luigi, Kreuzhuber, Roman, Ruklisa, Dace, Rosa, Isabel M., Tomé, Ana R., Elding, Heather, van Geffen, Johanna P., Jiang, Tao, Farrow, Samantha, Cairns, Jonathan, Al-Subaie, Abeer M., Ashford, Sofie, Attwood, Antony, Batista, Joana, Bouman, Heleen, Burden, Frances, Choudry, Fizzah A., Clarke, Laura, Flicek, Paul, Garner, Stephen F., Haimel, Matthias, Kempster, Carly, Ladopoulos, Vasileios, Lenaerts, An-Sofie, Materek, Paulina M., McKinney, Harriet, Meacham, Stuart, Mead, Daniel, Nagy, Magdolna, Penkett, Christopher J., Rendon, Augusto, Seyres, Denis, Sun, Benjamin, Tuna, Salih, van der Weide, Marie-Elise, Wingett, Steven W., Martens, Joost H., Stegle, Oliver, Richardson, Sylvia, Vallier, Ludovic, Roberts, David J., Freson, Kathleen, Wernisch, Lorenz, Stunnenberg, Hendrik G., Danesh, John, Fraser, Peter, Soranzo, Nicole, Butterworth, Adam S., Heemskerk, Johan W., Turro, Ernest, Spivakov, Mikhail, Ouwehand, Willem H., Astle, William J., Downes, Kate, Kostadima, Myrto, Frontini, Mattia
Published in Nat Commun (2017)

The Genetic Links to Anxiety and Depression (GLAD) Study: Online recruitment into the largest recontactable study of depression and anxiety

by Davies, Molly R., Kalsi, Gursharan, Armour, Chérie, Jones, Ian R., McIntosh, Andrew M., Smith, Daniel J., Walters, James T.R., Bradley, John R., Kingston, Nathalie, Ashford, Sofie, Beange, Ioana, Brailean, Anamaria, Cleare, Anthony J., Coleman, Jonathan R.I., Curtis, Charles J., Curzons, Susannah C.B., Davis, Katrina A.S., Dowey, Le Roy C., Gault, Victor A., Goldsmith, Kimberley A., Bennett, Megan Hammond, Hirose, Yoriko, Hotopf, Matthew, Hübel, Christopher, Kanz, Carola, Leng, Jennifer, Lyall, Donald M., Mason, Bethany D., McAtarsney-Kovacs, Monika, Monssen, Dina, Moulton, Alexei, Ovington, Nigel, Palaiologou, Elisavet, Pariante, Carmine M., Parikh, Shivani, Peel, Alicia J., Price, Ruth K., Rimes, Katharine A., Rogers, Henry C., Sambrook, Jennifer, Skelton, Megan, Spaul, Anna, Suarez, Eddy L.A., Sykes, Bronte L., Thomas, Keith G., Young, Allan H., Vassos, Evangelos, Veale, David, White, Katie M., Wingrove, Janet, Eley, Thalia C., Breen, Gerome
Published in Behav Res Ther (2019)

Genetic variants influencing circulating lipid levels and risk of coronary artery disease

by Waterworth, Dawn M, Ricketts, Sally L, Song, Kijoung, Chen, Li, Zhao, Jing Hua, Ripatti, Samuli, Aulchenko, Yurii S, Zhang, Weihua, Yuan, Xin, Lim, Noha, Luan, Jian’an, Ashford, Sofie, Wheeler, Eleanor, Young, Elizabeth H, Hadley, David, Thompson, John R, Braund, Peter S, Johnson, Toby, Struchalin, Maksim, Surakka, Ida, Luben, Robert, Khaw, Kay-Tee, Rodwell, Sheila A, Loos, Ruth J F, Boekholdt, S. Matthijs, Inouye, Michael, Deloukas, Panagiotis, Elliott, Paul, Schlessinger, David, Sanna, Serena, Scuteri, Angelo, Jackson, Anne, Mohlke, Karen L, Tuomilehto, Jaako, Roberts, Robert, Stewart, Alexandre, Kesäniemi, Y Antero, Mahley, Robert W, Grundy, Scott M, Hofman, Albert, McArdle, Wendy, Cardon, Lon, Waeber, Gérard, Vollenweider, Peter, Chambers, John C, Boehnke, Michael, Abecasis, Gonçalo R, Salomaa, Veikko, Järvelin, Marjo-Riitta, Barroso, Inês, Epstein, Stephen E, Hakonarson, Hakon H, Rader, Daniel J, Reilly, Muredach P, Witteman, Jacqueline C M, Hall, Alistair S, Samani, Nilesh J, Strachan, David P, Barter, Philip, van Duijn, Cornelia M, Kooner, Jaspal S, Peltonen, Leena, Wareham, Nicholas J, McPherson, Ruth, Mooser, Vincent, Sandhu, Manjinder S
Published 2010

Whole-genome sequencing of patients with rare diseases in a national health system

by Turro, Ernest, Astle, William J, Megy, Karyn, Gräf, Stefan, Greene, Daniel, Shamardina, Olga, Allen, Hana Lango, Sanchis-Juan, Alba, Frontini, Mattia, Thys, Chantal, Stephens, Jonathan, Mapeta, Rutendo, Burren, Oliver S, Downes, Kate, Haimel, Matthias, Tuna, Salih, Aitman, Timothy J, Bennett, David L, Calleja, Paul, Carss, Keren, Caulfield, Mark J, Chinnery, Patrick F, Dixon, Peter H, Gale, Daniel P, James, Roger, Koziell, Ania, Laffan, Michael A, Levine, Adam P, Maher, Eamonn R, Markus, Hugh S, Morales, Joannella, Morrell, Nicholas W, Mumford, Andrew D, Ormondroyd, Elizabeth, Rankin, Stuart, Rendon, Augusto, Richardson, Sylvia, Roberts, Irene, Roy, Noemi B, Saleem, Moin A, Smith, Kenneth G C, Stark, Hannah, Tan, Rhea Y Y, Themistocleous, Andreas C, Thrasher, Adrian J, Watkins, Hugh, Webster, Andrew R, Wilkins, Martin R, Williamson, Catherine, Whitworth, James, Humphray, Sean, Bentley, David R, Kingston, Nathalie, Walker, Neil, Bradley, John R, Ashford, Sofie, Penkett, Christopher J, Freson, Kathleen, Stirrups, Kathleen E, Raymond, F Lucy, Ouwehand, Willem H
Published in Nature (2020)

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

by Chen, Lu, Ge, Bing, Casale, Francesco Paolo, Vasquez, Louella, Kwan, Tony, Garrido-Martín, Diego, Watt, Stephen, Yan, Ying, Kundu, Kousik, Ecker, Simone, Datta, Avik, Richardson, David, Burden, Frances, Mead, Daniel, Mann, Alice L., Fernandez, Jose Maria, Rowlston, Sophia, Wilder, Steven P., Farrow, Samantha, Shao, Xiaojian, Lambourne, John J., Redensek, Adriana, Albers, Cornelis A., Amstislavskiy, Vyacheslav, Ashford, Sofie, Berentsen, Kim, Bomba, Lorenzo, Bourque, Guillaume, Bujold, David, Busche, Stephan, Caron, Maxime, Chen, Shu-Huang, Cheung, Warren, Delaneau, Oliver, Dermitzakis, Emmanouil T., Elding, Heather, Colgiu, Irina, Bagger, Frederik O., Flicek, Paul, Habibi, Ehsan, Iotchkova, Valentina, Janssen-Megens, Eva, Kim, Bowon, Lehrach, Hans, Lowy, Ernesto, Mandoli, Amit, Matarese, Filomena, Maurano, Matthew T., Morris, John A., Pancaldi, Vera, Pourfarzad, Farzin, Rehnstrom, Karola, Rendon, Augusto, Risch, Thomas, Sharifi, Nilofar, Simon, Marie-Michelle, Sultan, Marc, Valencia, Alfonso, Walter, Klaudia, Wang, Shuang-Yin, Frontini, Mattia, Antonarakis, Stylianos E., Clarke, Laura, Yaspo, Marie-Laure, Beck, Stephan, Guigo, Roderic, Rico, Daniel, Martens, Joost H.A., Ouwehand, Willem H., Kuijpers, Taco W., Paul, Dirk S., Stunnenberg, Hendrik G., Stegle, Oliver, Downes, Kate, Pastinen, Tomi, Soranzo, Nicole
Published in Cell (2016)