Whole-genome sequence-based analysis of thyroid function

by Taylor, Peter N, Porcu, Eleonora, Chew, Shelby, Campbell, Purdey J, Traglia, Michela, Brown, Suzanne J, Mullin, Benjamin H, Shihab, Hashem A, Min, Josine, Walter, Klaudia, Memari, Yasin, Huang, Jie, Barnes, Michael R, Beilby, John P, Charoen, Pimphen, Danecek, Petr, Dudbridge, Frank, Forgetta, Vincenzo, Greenwood, Celia, Grundberg, Elin, Johnson, Andrew D, Hui, Jennie, Lim, Ee M, McCarthy, Shane, Muddyman, Dawn, Panicker, Vijay, Perry, John R B, Bell, Jordana T, Yuan, Wei, Relton, Caroline, Gaunt, Tom, Schlessinger, David, Abecasis, Goncalo, Cucca, Francesco, Surdulescu, Gabriela L, Woltersdorf, Wolfram, Zeggini, Eleftheria, Zheng, Hou-Feng, Toniolo, Daniela, Dayan, Colin M, Naitza, Silvia, Walsh, John P, Spector, Tim, Davey Smith, George, Durbin, Richard, Richards, J Brent, Sanna, Serena, Soranzo, Nicole, Timpson, Nicholas J, Wilson, Scott G
Published in Nature communications

A new acro-osteolysis syndrome caused by duplications including PTHLH

by Gray, Mary J, van Kogelenberg, Margriet, Beddow, Rachel, Morgan, Tim, Wordsworth, Paul, Shears, Deborah J, Robertson, Stephen P, Hurst, Jane A
Published in Journal of human genetics

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

by Wright, Caroline F, Dr, Fitzgerald, Tomas W, MS, Jones, Wendy D, MBBS, Clayton, Stephen, MRes, McRae, Jeremy F, PhD, van Kogelenberg, Margriet, PhD, King, Daniel A, MD, Ambridge, Kirsty, BSc, Barrett, Daniel M, BSc, Bayzetinova, Tanya, BSc, Bevan, A Paul, PhD, Bragin, Eugene, MSc, Chatzimichali, Eleni A, PhD, Gribble, Susan, PhD, Jones, Philip, MSc, Krishnappa, Netravathi, MSc, Mason, Laura E, BSc, Miller, Ray, PhD, Morley, Katherine I, PhD, Parthiban, Vijaya, PhD, Prigmore, Elena, PhD, Rajan, Diana, MSc, Sifrim, Alejandro, PhD, Swaminathan, G Jawahar, PhD, Tivey, Adrian R, MSc, Middleton, Anna, PhD, Parker, Michael, Prof, Carter, Nigel P, PhD, Barrett, Jeffrey C, PhD, Hurles, Matthew E, PhD, FitzPatrick, David R, Prof, Firth, Helen V, DM
Published in The Lancet (British edition)

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

by Reich, Adi, Cross, J. Helen, Scheffer, Ingrid E., Krishnappa, Netravathi, Awada, Jana, Baralle, Diana, Bernhard, Birgitta, Clasper, Susan, Clayton-Smith, Jill, Cresswell, Lara, Donaldson, Alan, Ellis, Ian, Gaunt, Lorraine, He, Liu, Hewitt, Sarah, Hurst, Jane, Kirk, Claire, Kivuva, Emma, Kumar, Dhavendra, Mansour, Sahar, McCann, Emma, McKee, Shane, Mugalaasi, Hood, Murphy, Helen, Newbury-Ecob, Ruth, Pilz, Daniela T., Pollard, Martin, Pridham, Abigail, Saggar, Anand, Scott, Richard, Shearing, Emma, Smithson, Sarah, Sneddon, Linda, Suri, Mohnish, Tatton-Brown, Kate, Thomson, Jenny, Torokwa, Audrey, Varghese, Vinod, Yau, Michael, Artigas, Maria Soler, Boustred, Chris, Evans, David, Flicek, Paul, Hart, Deborah, Langford, Cordelia, Lawson, Daniel, Li, Rui, O'Donnovan, Michael, Parker, Victoria, Parr, Jeremy R., Paunio, Tiina, Rehnström, Karola, Sun, Jianping, Suvisaari, Jaana, Tachmazidou, Ionna, Williamson, Kathleen A., Wong, Kim, Alachkar, Hana, Ambegaonkar, Gautum, Attwood, Antony, Austin, Steve, Bennett, David, Bibi, Shahnaz, Bleda, Marta, Boggard, Harm, Bradley, John R., Browning, Michael, Clement, Emma, Doffinger, Rainer, Drewe, Elizabeth, Frary, Amy, Ghataorhe, Pavandeep K., Greenhalgh, Alan, Hackett, Scott, Hadinnapola, Charaka, Heemskerk, Johan W.M., Humbert, Marc, James, Roger, Krishnakumar, Deepa, Lawrie, Allan, Lentaigne, Claire, Maimaris, Jesmeen, Maw, Anna, Megy, Karyn, Moledina, Shahin, Morrell, Nicholas, Nejentsev, Sergey, Polwarth, Gary, Quinti, Isabella, Raymond, F. Lucy, Samarghitean, Crina, Sanchis-Juan, Alba, Southgate, Laura, Stauss, Hans, Thrasher, Adrian, Trembath, Richard, Turro, Ernest, Williamson, Catherine, Yeatman, Nigel, Millichap, John J.
Published in American journal of human genetics

Synaptic, transcriptional and chromatin genes disrupted in autism

by De Rubeis, Silvia, He, Xin, Goldberg, Arthur P, Poultney, Christopher S, Samocha, Kaitlin, Cicek, A Erucment, Kou, Yan, Liu, Li, Fromer, Menachem, Walker, Susan, Singh, Tarinder, Klei, Lambertus, Kosmicki, Jack, Shih-Chen, Fu, Aleksic, Branko, Biscaldi, Monica, Bolton, Patrick F, Brownfeld, Jessica M, Cai, Jinlu, Campbell, Nicholas G, Carracedo, Angel, Chahrour, Maria H, Chiocchetti, Andreas G, Coon, Hilary, Crawford, Emily L, Curran, Sarah R, Dawson, Geraldine, Duketis, Eftichia, Fernandez, Bridget A, Gallagher, Louise, Geller, Evan, Guter, Stephen J, Hill, R Sean, Ionita-Laza, Juliana, Jimenz Gonzalez, Patricia, Kilpinen, Helena, Klauck, Sabine M, Kolevzon, Alexander, Lee, Irene, Lei, Irene, Lei, Jing, Lehtimäki, Terho, Lin, Chiao-Feng, Ma'ayan, Avi, Marshall, Christian R, McInnes, Alison L, Neale, Benjamin, Owen, Michael J, Ozaki, Noriio, Parellada, Mara, Parr, Jeremy R, Purcell, Shaun, Puura, Kaija, Rajagopalan, Deepthi, Rehnström, Karola, Reichenberg, Abraham, Sabo, Aniko, Sachse, Michael, Sanders, Stephan J, Schafer, Chad, Schulte-Rüther, Martin, Skuse, David, Stevens, Christine, Szatmari, Peter, Tammimies, Kristiina, Valladares, Otto, Voran, Annette, Li-San, Wang, Weiss, Lauren A, Willsey, A Jeremy, Yu, Timothy W, Yuen, Ryan K C, Cook, Edwin H, Freitag, Christine M, Gill, Michael, Hultman, Christina M, Lehner, Thomas, Palotie, Aaarno, Schellenberg, Gerard D, Sklar, Pamela, State, Matthew W, Sutcliffe, James S, Walsh, Christiopher A, Scherer, Stephen W, Zwick, Michael E, Barett, Jeffrey C, Cutler, David J, Roeder, Kathryn, Devlin, Bernie, Daly, Mark J, Buxbaum, Joseph D
Published in Nature (London)

The UK10K project identifies rare variants in health and disease

by Walter, Klaudia, Min, Josine L, Huang, Jie, Crooks, Lucy, Memari, Yasin, McCarthy, Shane, Perry, John R B, Xu, ChangJiang, Futema, Marta, Lawson, Daniel, Iotchkova, Valentina, Schiffels, Stephan, Hendricks, Audrey E, Danecek, Petr, Li, Rui, Floyd, James, Wain, Louise V, Barroso, Inês, Humphries, Steve E, Hurles, Matthew E, Zeggini, Eleftheria, Barrett, Jeffrey C, Plagnol, Vincent, Richards, J Brent, Greenwood, Celia M T, Timpson, Nicholas J, Durbin, Richard, Soranzo, Nicole
Published in Nature (London)

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

by Boldt, Karsten, van Reeuwijk, Jeroen, Lu, Qianhao, Koutroumpas, Konstantinos, Nguyen, Thanh-Minh T, Texier, Yves, van Beersum, Sylvia E C, Horn, Nicola, Willer, Jason R, Mans, Dorus A, Dougherty, Gerard, Lamers, Ideke J C, Coene, Karlien L M, Arts, Heleen H, Betts, Matthew J, Beyer, Tina, Bolat, Emine, Gloeckner, Christian Johannes, Haidari, Khatera, Hetterschijt, Lisette, Iaconis, Daniela, Jenkins, Dagan, Klose, Franziska, Knapp, Barbara, Latour, Brooke, Letteboer, Stef J F, Marcelis, Carlo L, Mitic, Dragana, Morleo, Manuela, Oud, Machteld M, Riemersma, Moniek, Rix, Susan, Terhal, Paulien A, Toedt, Grischa, van Dam, Teunis J P, de Vrieze, Erik, Wissinger, Yasmin, Wu, Ka Man, Apic, Gordana, Beales, Philip L, Blacque, Oliver E, Gibson, Toby J, Huynen, Martijn A, Katsanis, Nicholas, Kremer, Hannie, Omran, Heymut, van Wijk, Erwin, Wolfrum, Uwe, Kepes, François, Davis, Erica E, Franco, Brunella, Giles, Rachel H, Ueffing, Marius, Russell, Robert B, Roepman, Ronald
Published in Nature communications

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3

by Olcese, Chiara, Patel, Mitali P, Shoemark, Amelia, Kiviluoto, Santeri, Legendre, Marie, Williams, Hywel J, Vaughan, Cara K, Hayward, Jane, Goldenberg, Alice, Emes, Richard D, Munye, Mustafa M, Dyer, Laura, Cahill, Thomas, Bevillard, Jeremy, Gehrig, Corinne, Guipponi, Michel, Chantot, Sandra, Duquesnoy, Philippe, Thomas, Lucie, Jeanson, Ludovic, Copin, Bruno, Tamalet, Aline, Thauvin-Robinet, Christel, Papon, Jean-François, Garin, Antoine, Pin, Isabelle, Vera, Gabriella, Aurora, Paul, Fassad, Mahmoud R, Jenkins, Lucy, Boustred, Christopher, Cullup, Thomas, Dixon, Mellisa, Onoufriadis, Alexandros, Bush, Andrew, Chung, Eddie M K, Antonarakis, Stylianos E, Loebinger, Michael R, Wilson, Robert, Armengot, Miguel, Escudier, Estelle, Hogg, Claire, Amselem, Serge, Sun, Zhaoxia, Bartoloni, Lucia, Blouin, Jean-Louis, Mitchison, Hannah M
Published in Nature communications

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

by Huang, Jie, Howie, Bryan, McCarthy, Shane, Memari, Yasin, Walter, Klaudia, Min, Josine L, Danecek, Petr, Malerba, Giovanni, Trabetti, Elisabetta, Zheng, Hou-Feng, Gambaro, Giovanni, Richards, J Brent, Durbin, Richard, Timpson, Nicholas J, Marchini, Jonathan, Soranzo, Nicole
Published in Nature communications

Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

by OLBRICH, Heike, SCHMIDTS, Miriam, HURLES, Matthew E, CONSORTIUM, Ukk, KÖHLER, Gabriele, SCHROEDER, Josef, NÜRNBERG, Gudrun, NÜRNBERG, Peter, CHUNG, Eddie M. K, REINHARDT, Richard, MARTHIN, June K, NIELSEN, Kim G, WERNER, Claudius, MITCHISON, HannahM, OMRAN, Heymut, ONOUFRIADIS, Alexandros, LOGES, Niki T, RAIDT, Johanna, FANNI BANKI, Nora, SHOEMARK, Amelia, BURGOYNE, Tom, AL TURKI, Saeed
Published in American journal of human genetics

Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling

by Baker, Kate, Gordon, Sarah L, Grozeva, Detelina, van Kogelenberg, Margriet, Roberts, Nicola Y, Pike, Michael, Blair, Edward, Hurles, Matthew E, Chong, W Kling, Baldeweg, Torsten, Kurian, Manju A, Boyd, Stewart G, Cousin, Michael A, Raymond, F Lucy
Published in The Journal of clinical investigation

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

by Carss, Keren J., Stevens, Elizabeth, Foley, A. Reghan, Cirak, Sebahattin, Riemersma, Moniek, Torelli, Silvia, Hoischen, Alexander, Willer, Tobias, van Scherpenzeel, Monique, Moore, Steven A., Messina, Sonia, Bertini, Enrico, Bönnemann, Carsten G., Abdenur, Jose E., Grosmann, Carla M., Kesari, Akanchha, Punetha, Jaya, Quinlivan, Ros, Waddell, Leigh B., Young, Helen K., Wraige, Elizabeth, Yau, Shu, Brodd, Lina, Feng, Lucy, Sewry, Caroline, MacArthur, Daniel G., North, Kathryn N., Hoffman, Eric, Stemple, Derek L., Hurles, Matthew E., van Bokhoven, Hans, Campbell, Kevin P., Lefeber, Dirk J., Lin, Yung-Yao, Muntoni, Francesco
Published in American journal of human genetics

Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus-CA3 projection

by Zhou, Wenjun, He, Yanlin, Rehman, Atteeq U, Kong, Yan, Hong, Sungguan, Ding, Guolian, Yalamanchili, Hari Krishna, Wan, Ying-Wooi, Paul, Basil, Wang, Chuhan, Gong, Yingyun, Zhou, Wenxian, Liu, Hao, Dean, John, Scalais, Emmanuel, O'Driscoll, Mary, Morton, Jenny E V, Hou, Xinguo, Wu, Qi, Tong, Qingchun, Liu, Zhandong, Liu, Pengfei, Xu, Yong, Sun, Zheng
Published in Nature neuroscience

Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

by Williamson, Kathleen A., Rainger, Joe, Floyd, James A.B., Ansari, Morad, Meynert, Alison, Aldridge, Kishan V., Rainger, Jacqueline K., Anderson, Carl A., Moore, Anthony T., Hurles, Matthew E., Clarke, Angus, van Heyningen, Veronica, Verloes, Alain, Taylor, Martin S., Wilkie, Andrew O.M., FitzPatrick, David R.
Published in American journal of human genetics

Steroid receptor coactivator-1 modulates the function of Pomc neurons and energy homeostasis

by Yang, Yongjie, van der Klaauw, Agatha A, Zhu, Liangru, Cacciottolo, Tessa M, He, Yanlin, Stadler, Lukas K J, Wang, Chunmei, Xu, Pingwen, Saito, Kenji, Hinton, Jr, Antentor, Yan, Xiaofeng, Keogh, Julia M, Henning, Elana, Banton, Matthew C, Hendricks, Audrey E, Bochukova, Elena G, Mistry, Vanisha, Lawler, Katherine L, Liao, Lan, Xu, Jianming, O'Rahilly, Stephen, Tong, Qingchun, Inês Barroso, O'Malley, Bert W, Farooqi, I Sadaf, Xu, Yong
Published in Nature communications

Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations

by Rainger, Joe, Pehlivan, Davut, Johansson, Stefan, Bengani, Hemant, Sanchez-Pulido, Luis, Williamson, Kathleen A., Ture, Mehmet, Barker, Heather, Rosendahl, Karen, Spranger, Jürgen, Horn, Denise, Meynert, Alison, Floyd, James A.B., Prescott, Trine, Anderson, Carl A., Rainger, Jacqueline K., Karaca, Ender, Gonzaga-Jauregui, Claudia, Jhangiani, Shalini, Muzny, Donna M., Seawright, Anne, Soares, Dinesh C., Kharbanda, Mira, Murday, Victoria, Finch, Andrew, Hurles, Matthew, FitzPatrick, David R., Al-Turki, Saeed, Anderson, Carl, Barroso, Inês, Beales, Philip, Bentham, Jamie, Bhattacharya, Shoumo, Carss, Keren, Chatterjee, Krishna, Cirak, Sebhattin, Cosgrove, Catherine, Daly, Allan, Floyd, Jamie, Franklin, Chris, Futema, Marta, Humphries, Steve, McCarthy, Shane, Mitchison, Hannah, Muntoni, Francesco, Onoufriadis, Alexandros, Parker, Victoria, Payne, Felicity, Plagnol, Vincent, Raymond, Lucy, Savage, David, Scambler, Peter, Schmidts, Miriam, Semple, Robert, Serra, Eva, Stalker, Jim, van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Walter, Klaudia, Wood, Gretta, Gibbs, Richard A., van Heyningen, Veronica, Taylor, Martin S., Yakut, Tahsin, Knappskog, Per M., Hurles, Matthew E., Ponting, Chris P., Lupski, James R., Houge, Gunnar, FitzPatrick, David R.
Published in American journal of human genetics

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 Scientific reports

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume

by Haworth, Simon, Shapland, Chin Yang, Hayward, Caroline, Prins, Bram P, Felix, Janine F, Medina-Gomez, Carolina, Rivadeneira, Fernando, Wang, Carol, Ahluwalia, Tarunveer S, Vrijheid, Martine, Guxens, Mònica, Sunyer, Jordi, Tachmazidou, Ioanna, Walter, Klaudia, Iotchkova, Valentina, Jackson, Andrew, Cleal, Louise, Huffmann, Jennifer, Min, Josine L, Sass, Lærke, Timmers, Paul R H J, Davey Smith, George, Fisher, Simon E, Wilson, James F, Cole, Tim J, Fernandez-Orth, Dietmar, Bønnelykke, Klaus, Bisgaard, Hans, Pennell, Craig E, Jaddoe, Vincent W V, Dedoussis, George, Timpson, Nicholas, Zeggini, Eleftheria, Vitart, Veronique, St Pourcain, Beate
Published in Nature communications

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

by Schmidts, Miriam, Hou, Yuqing, Cortés, Claudio R, Mans, Dorus A, Huber, Celine, Boldt, Karsten, Patel, Mitali, van Reeuwijk, Jeroen, Plaza, Jean-Marc, van Beersum, Sylvia E C, Yap, Zhi Min, Letteboer, Stef J F, Taylor, S Paige, Herridge, Warren, Johnson, Colin A, Scambler, Peter J, Ueffing, Marius, Kayserili, Hulya, Krakow, Deborah, King, Stephen M, Beales, Philip L, Al-Gazali, Lihadh, Wicking, Carol, Cormier-Daire, Valerie, Roepman, Ronald, Mitchison, Hannah M, Witman, George B
Published in Nature communications

A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

by Timpson, Nicholas J, Walter, Klaudia, Min, Josine L, Tachmazidou, Ioanna, Malerba, Giovanni, Shin, So-Youn, Chen, Lu, Futema, Marta, Southam, Lorraine, Iotchkova, Valentina, Cocca, Massimiliano, Huang, Jie, Memari, Yasin, McCarthy, Shane, Danecek, Petr, Muddyman, Dawn, Mangino, Massimo, Menni, Cristina, Perry, John R B, Ring, Susan M, Gaye, Amadou, Dedoussis, George, Farmaki, Aliki-Eleni, Burton, Paul, Talmud, Philippa J, Gambaro, Giovanni, Spector, Tim D, Smith, George Davey, Durbin, Richard, Richards, J Brent, Humphries, Steve E, Zeggini, Eleftheria, Soranzo, Nicole
Published in Nature communications