Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humans

by Case, Laura K, Liljencrantz, Jaquette, Madian, Nicholas, Necaise, Aaron, Tubbs, Justin, McCall, Micaela, Bradson, Megan L, Szczot, Marcin, Pitcher, Mark H, Ghitani, Nima, Frangos, Eleni, Cole, Jonathan, Bharucha-Goebel, Diana, Saade, Dimah, Ogata, Tracy, Donkervoort, Sandra, Foley, A Reghan, Bönnemann, Carsten G, Olausson, Håkan, Bushnell, M Catherine, Chesler, Alexander T
Published in Nature communications

Ethical challenges for a new generation of early-phase pediatric gene therapy trials

by Iyer, Alexander A, Saade, Dimah, Bharucha-Goebel, Diana, Foley, A Reghan, Averion, Gilberto 'Mike', Paredes, Eduardo, Gray, Steven, Bönnemann, Carsten G, Grady, Christine, Hendriks, Saskia, Rid, Annette
Published in Genetics in medicine

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

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

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

Innocuous pressure sensation requires A-type afferents but not functional Rho Iota Epsilon Zeta Omicron 2 channels in humans

by Case, Laura K., Liljencrantz, Jaquette, Madian, Nicholas, Necaise, Aaron, Tubbs, Justin, McCall, Micaela, Bradson, Megan L., Szczot, Marcin, Pitcher, Mark H., Ghitani, Nima, Frangos, Eleni, Cole, Jonathan, Bharucha-Goebel, Diana, Saade, Dimah, Ogata, Tracy, Donkervoort, Sandra, Foley, A. Reghan, Bonnemann, Carsten G., Olausson, Håkan, Bushnell, M. Catherine, Chesler, Alexander T.
Published in Nature communications

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

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

by Kim, Hong Joo, Mohassel, Payam, Donkervoort, Sandra, Guo, Lin, O'Donovan, Kevin, Coughlin, Maura, Lornage, Xaviere, Foulds, Nicola, Hammans, Simon R, Foley, A Reghan, Fare, Charlotte M, Ford, Alice F, Ogasawara, Masashi, Sato, Aki, Iida, Aritoshi, Munot, Pinki, Ambegaonkar, Gautam, Phadke, Rahul, O'Donovan, Dominic G, Buchert, Rebecca, Grimmel, Mona, Töpf, Ana, Zaharieva, Irina T, Brady, Lauren, Hu, Ying, Lloyd, Thomas E, Klein, Andrea, Steinlin, Maja, Kuster, Alice, Mercier, Sandra, Marcorelles, Pascale, Péréon, Yann, Fleurence, Emmanuelle, Manzur, Adnan, Ennis, Sarah, Upstill-Goddard, Rosanna, Bello, Luca, Bertolin, Cinzia, Pegoraro, Elena, Salviati, Leonardo, French, Courtney E, Shatillo, Andriy, Raymond, F Lucy, Haack, Tobias B, Quijano-Roy, Susana, Böhm, Johann, Nelson, Isabelle, Stojkovic, Tanya, Evangelista, Teresinha, Straub, Volker, Romero, Norma B, Laporte, Jocelyn, Muntoni, Francesco, Nishino, Ichizo, Tarnopolsky, Mark A, Shorter, James, Bönnemann, Carsten G, Taylor, J Paul
Published in Nature communications

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

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

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

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

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

by Schmidts, Miriam, Cortés, Claudio R., Huber, Celine, Plaza, Jean-Marc, van Beersum, Sylvia E. C., Yap, Zhi Min, Letteboer, Stef J. F., Herridge, Warren, Johnson, Colin A., Scambler, Peter J., Ueffing, Marius, Kayserili, Hulya, Krakow, Deborah, Al-Turki, Saeed, Antony, Dinu, Ayub, Mohammad, Barrett, Jeff, Bobrow, Martin, Bolton, Patrick, Brion, Marie-Jo, Brown, Andrew, Chatterjee, Krishna, Cirak, Sebhattin, Clapham, Peter, Coates, Guy, Collier, David, Cosgrove, Catherine, Craddock, Nick, Crooks, Lucy, Danecek, Petr, Day-Williams, Aaron, Durbin, Richard, Evans, David, Farooqi, I. Sadaf, Fatemifar, Ghazaleh, Flicek, Paul, Floyd, Jamie, Foley, A. Reghan, Futema, Marta, Geschwind, Daniel, Greenwood, Celia, Grozeva, Detelina, Guo, Xiaosen, Gurling, Hugh, Hendricks, Audrey, Huang, Jie, Jackson, David, Jewell, David, Chris, Joyce, Kennedy, Karen, Kent, Alastair, Kolb-Kokocinski, Anja, Lachance, Genevieve, Li, Rui, Lönnqvist, Jouko, Massimo, Mangino, Maslen, John, McGuffin, Peter, Memari, Yasin, Metrustry, Sarah, Moayyeri, Alireza, Morris, James, Muddyman, Dawn, Muntoni, Francesco, Northstone, Kate, Onoufriadis, Alexandros, Palotie, Aarno, Panoutsopoulou, Kalliope, Paternoster, Lavinia, Paunio, Tiina, Pietilainen, Olli, Rehnström, Karola, Ring, Sue, Semple, Robert K., Serra, Eva, Shin, So-Youn, Smee, Carol, Soranzo, Nicole, Southam, Lorraine, St Pourcain, Beate, Surdulescu, Gabriela, Suvisaari, Jaana, Tian, Jing, Timpson, Nic, van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Wain, Louise, Walter, Klaudia, Wang, Jun, Wheeler, Ellie, Whittall, Ros, Wilson, Scott G., Wong, Kim, ChangJiang, Xu, Zeggini, Eleftheria, Beales, Philip L., Al-Gazali, Lihadh, Wicking, Carol, Roepman, Ronald, Witman, George B.
Published in Nature communications