Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis von Mells, George F, Floyd, James A B, Morley, Katherine I, Cordell, Heather J, Franklin, Christopher S, Shin, So-Youn, Heneghan, Michael A, Neuberger, James M, Donaldson, Peter T, Day, Darren B, Ducker, Samantha J, Muriithi, Agnes W, Wheater, Elizabeth F, Hammond, Christopher J, Dawwas, Muhammad F, Jones, David E, Peltonen, Leena, Alexander, Graeme J, Sandford, Richard N, Anderson, Carl A

Volltext

Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability von Grozeva, Detelina, Carss, Keren, Spasic-Boskovic, Olivera, Tejada, Maria-Isabel, Gecz, Jozef, Shaw, Marie, Corbett, Mark, Haan, Eric, Thompson, Elizabeth, Friend, Kathryn, Hussain, Zaamin, Hackett, Anna, Field, Michael, Renieri, Alessandra, Stevenson, Roger, Schwartz, Charles, Floyd, James A.B., Bentham, Jamie, Cosgrove, Catherine, Keavney, Bernard, Bhattacharya, Shoumo, Hurles, Matthew, Raymond, F. Lucy

Volltext

De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability von Grozeva, Detelina, Carss, Keren, Spasic-Boskovic, Olivera, Parker, Michael J., Archer, Hayley, Firth, Helen V., Park, Soo-Mi, Canham, Natalie, Holder, Susan E., Wilson, Meredith, Hackett, Anna, Field, Michael, Floyd, James A.B., Hurles, Matthew, Raymond, F. Lucy

Volltext

A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma von Liu, Chunqiao, Widen, Sonya A, Williamson, Kathleen A, Ratnapriya, Rinki, Gerth-Kahlert, Christina, Rainger, Joe, Alur, Ramakrishna P, Strachan, Erin, Manjunath, Souparnika H, Balakrishnan, Archana, Floyd, James A, Li, Tiansen, Waskiewicz, Andrew, Brooks, Brian P, Lehmann, Ordan J, FitzPatrick, David R, Swaroop, Anand

Volltext

The UK10K project identifies rare variants in health and disease von 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

Volltext

Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa von Yilmaz, Zeynep, Walters, Raymond, Goldstein, Jackie, Ripke, Stephan, Thornton, Laura, Hinney, Anke, Daly, Mark, Sullivan, Patrick F, Zeggini, Eleftheria, Breen, Gerome, Adan, Roger, Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole, Aschauer, Harald, Baker, Jessica, Barrett, Jeffrey, Bencko, Vladimir, Boni, Claudette, Perica, Vesna Boraska, Burghardt, Roland, Cassina, Matteo, Cichon, Sven, Crow, Scott, Davis, Oliver, de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece, Dick, Danielle, Ding, Bo, Egberts, Karin, Escaramís, Geòrgia, Esko, Tõnu, Fichter, Manfred, Finan, Chris, Fischer, Krista, Floyd, James, Föcker, Manuel, Forzan, Monica, Gaborieau, Valerie, Gambaro, Giovanni, Giegling, Ina, Guillaume, Sébastien, Guo, Yiran, Hauser, Joanna, Helder, Sietske, Hendriks, Judith, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hudson, James, Inoko, Hidetoshi, Jall, Sigrid, Jamain, Stephane, Johnson, Craig, Julià, Antonio, Kennedy, Martin, Kennedy, James, Keski-Rahkonen, Anna, Klareskog, Lars, Klump, Kelly, Leboyer, Marion, Levitan, Robert, Lissowska, Jolanta, Maj, Mario, Marsal, Sara, Metspalu, Andres, Micali, Nadia, Monteleone, Palmiero, Monteleone, Alessio Maria, Mortensen, Preben, Munn-Chernoff, Melissa, Müller, Timo, Ophoff, Roel, O’Toole, Julie, Pantel, Jacques, Pinto, Dalila, Rabionet, Raquel, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rybakowski, Filip, Santonastaso, Paolo, Scherag, André, Schork, Nicholas, Scott, Laura, Slachtova, Lenka, Sladek, Robert, Szatkiewicz, Jin, Szeszenia-Dabrowska, Neonila, Tachmazidou, Ioanna, Tortorella, Alfonso, Treasure, Janet, Tsitsika, Artemis, van Furth, Eric, Wade, Tracey, Wagner, Gudrun

Volltext

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

Volltext

Genome-Wide Meta-analysis Identifies Genetic Variants Associated With Glycemic Response to Sulfonylureas von Dawed, Adem Y, Yee, Sook Wah, Zhou, Kaixin, van Leeuwen, Nienke, Zhang, Yanfei, Siddiqui, Moneeza K, Etheridge, Amy, Innocenti, Federico, Xu, Fei, Li, Josephine H, Beulens, Joline W, van der Heijden, Amber A, Slieker, Roderick C, Chang, Yu-Chuan, Mercader, Josep M, Kaur, Varinderpal, Witte, John S, Lee, Ming Ta Michael, Kamatani, Yoichiro, Momozawa, Yukihide, Kubo, Michiaki, Palmer, Colin N A, Florez, Jose C, Hedderson, Monique M, 't Hart, Leen M, Giacomini, Kathleen M, Pearson, Ewan R

Volltext

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

Volltext

Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits von Pankratz, Nathan, Schick, Ursula M, Zhou, Yi, Zhou, Wei, Ahluwalia, Tarunveer Singh, Allende, Maria Laura, Auer, Paul L, Bork-Jensen, Jette, Brody, Jennifer A, Chen, Ming-Huei, Clavo, Vinna, Eicher, John D, Grarup, Niels, Hagedorn, Elliott J, Hu, Bella, Hunker, Kristina, Johnson, Andrew D, Leusink, Maarten, Lu, Yingchang, Lyytikäinen, Leo-Pekka, Manichaikul, Ani, Marioni, Riccardo E, Nalls, Mike A, Pazoki, Raha, Smith, Albert Vernon, van Rooij, Frank J A, Yang, Min-Lee, Zhang, Xiaoling, Zhang, Yan, Asselbergs, Folkert W, Boerwinkle, Eric, Borecki, Ingrid B, Bottinger, Erwin P, Cushman, Mary, de Bakker, Paul I W, Deary, Ian J, Dong, Liguang, Feitosa, Mary F, Floyd, James S, Franceschini, Nora, Franco, Oscar H, Garcia, Melissa E, Grove, Megan L, Gudnason, Vilmundur, Hansen, Torben, Harris, Tamara B, Hofman, Albert, Jackson, Rebecca D, Jia, Jia, Kähönen, Mika, Launer, Lenore J, Lehtimäki, Terho, Liewald, David C, Linneberg, Allan, Liu, Yongmei, Loos, Ruth J F, Nguyen, Vy M, Numans, Mattijs E, Pedersen, Oluf, Psaty, Bruce M, Raitakari, Olli T, Rich, Stephen S, Rivadeneira, Fernando, Di Sant, Amanda M Rosa, Rotter, Jerome I, Starr, John M, Taylor, Kent D, Thuesen, Betina Heinsbæk, Tracy, Russell P, Uitterlinden, Andre G, Wang, Jiansong, Wang, Judy, Dehghan, Abbas, Huo, Yong, Cupples, L Adrienne, Wilson, James G, Proia, Richard L, Zon, Leonard I, O'Donnell, Christopher J, Reiner, Alex P, Ganesh, Santhi K

Volltext

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

Volltext

A genome-wide association study of anorexia nervosa von Boraska, V, Franklin, C S, Floyd, J A B, Rayner, N W, Tachmazidou, I, Klump, K L, Treasure, J, Kiezebrink, K, Gorwood, P, Adan, R A H, Favaro, A, Gratacos, M, Dmitrzak-Weglarz, M, Kaprio, J, Keski-Rahkonen, A, Raevuori, A, Van Furth, E F, Slof-Op 't Landt, M C T, Hudson, J I, Reichborn-Kjennerud, T, Knudsen, G P S, Kaplan, A S, Hakonarson, H, Berrettini, W H, Guo, Y, Li, D, Schork, N J, Komaki, G, Ando, T, Männik, K, Baker, J H, Cone, R D, Dackor, J, O'Toole, J K, Taico, C, Zerwas, S, Trace, S E, Davis, O S P, Helder, S, Burghardt, R, Egberts, K, Herzog, W, Imgart, H, Ramoz, N, Hendriks, J, Ophoff, R A, van Elburg, A A, Bruson, A, Clementi, M, Degortes, D, Forzan, M, Tenconi, E, Docampo, E, Escaramís, G, Jiménez-Murcia, S, Lissowska, J, Szeszenia-Dabrowska, N, Hauser, J, Karhunen, L, Meulenbelt, I, Slagboom, P E, Maj, M, Dedoussis, G, Slachtova, L, Martaskova, D, Kennedy, J L, Levitan, R D, Koubek, D, Wagner, G, Lichtenstein, P, Breen, G, Farmer, A, McGuffin, P, Herms, S, Wichmann, H-E, Dina, C, Sladek, R, Gambaro, G, Julia, A, Marsal, S, Palotie, A, Ripatti, S, Widén, E, Espeseth, T, Lundervold, A, Reinvang, I, Steen, V M, Le Hellard, S, Janout, V, Pinto, D, Scherer, S W, Aschauer, H, Padyukov, L, Courtet, P, Kalsi, G, Peltonen, L, Estivill, X, Hinney, A, Sullivan, P F, Bulik, C M

Volltext

Automated workflow-based exploitation of pathway databases provides new insights into genetic associations of metabolite profiles von Dharuri, Harish, Henneman, Peter, Demirkan, Ayse, van Klinken, Jan Bert, Mook-Kanamori, Dennis Owen, Wang-Sattler, Rui, Gieger, Christian, Adamski, Jerzy, Hettne, Kristina, Roos, Marco, Suhre, Karsten, Van Duijn, Cornelia M, van Dijk, Ko Willems, 't Hoen, Peter A C

Volltext

A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma von Liu, Chunqiao, Widen, Sonya A, Williamson, Kathleen A, Ratnapriya, Rinki, Gerth-Kahlert, Christina, Rainger, Joe, Alur, Ramakrishna P, Strachan, Erin, Manjunath, Souparnika H, Balakrishnan, Archana, Floyd, James A, Li, Tiansen, Waskiewicz, Andrew, Brooks, Brian P, Lehmann, Ordan J, FitzPatrick, David R, Swaroop, Anand

Volltext

Using ancestry-informative markers to identify fine structure across 15 populations of European origin von Huckins, Laura M, Boraska, Vesna, Franklin, Christopher S, Floyd, James A B, Southam, Lorraine, Sullivan, Patrick F, Bulik, Cynthia M, Collier, David A, Tyler-Smith, Chris, Zeggini, Eleftheria, Tachmazidou, Ioanna, GCAN, van Elburg, Annemarie

Volltext

Using ancestry-informative markers to identify fine structure across 15 populations of European origin von Huckins, Laura M, Boraska, Vesna, Franklin, Christopher S, Floyd, James A. B, Southam, Lorraine, GCAN, WTCCC3, Sullivan, Patrick F, Bulik, Cynthia M, Collier, David A, Tyler-Smith, Chris, Zeggini, Eleftheria, Tachmazidou, Ioanna

Volltext

LEGO® MINDSTORMS® EV3: The Mayan Adventure von Mark Bell, JAMES FLOYD KELLY

Volltext

Erratum: Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis von Mells, George F, Floyd, James A B, Morley, Katherine I, Cordell, Heather J, Franklin, Christopher S, Shin, So-Youn, Heneghan, Michael A, Neuberger, James M, Donaldson, Peter T, Day, Darren B, Ducker, Samantha J, Muriithi, Agnes W, Wheater, Elizabeth F, Hammond, Christopher J, Dawwas, Muhammad F, Jones, David E, Peltonen, Leena, Alexander, Graeme J, Sandford, Richard N, Anderson, Carl A

Volltext

A genome-wide association study of anorexia nervosa von Reichborn-Kjennerud, Ted, Knudsen, Gun Peggy, Andreassen, Ole Andreas, Espeseth, Thomas, Lundervold, Astri, Reinvang, Ivar, Steen, Vidar Martin, Le Hellard, Stephanie, Mattingsdal, Morten, Boraske, V, Franklin, CS, Floyd, James A. B., Thornton, Laura M, Huckins, L. M., Southam, L, Rayner, NW, Tachmazidou, I, Klump, KL, Treasure, Jim, Lewis, C. M., Schmidt, U, Tozzi, F, Kiezebrink, K, Hebebrand, J., Gorwood, P., Adan, R. A. H., Kas, M. J. H., Favaro, A, Santonastaso, P, Fernández-Aranda, Fernando, Gratacòs, Mònica, Rybakowski, Finn, Dmitrzak-Weglarz, M., Kaprio, J, Keski-Rahkonen, A, Raevuori, A., Van Furth, E. F., Slof-Op 't Landt, M. C. T., Hudson, JI, Monteleone, P., Kaplan, AS, Karwautz, A, Hakonarson, H, Berrettini, W. H., Guo, Y, Li, D, Schork, NJ, Komaki, G, Ando, T, Inoko, H.

Volltext

Response to Comment on Dawed et al. Genome-Wide Meta-analysis Identifies Genetic Variants Associated With Glycemic Response to Sulfonylureas. Diabetes Care 2021;44:2673-2682 von Dawed, Adem Y, Yee, Sook Wah, Zhou, Kaixin, van Leeuwen, Nienke, Zhang, Yanfei, Siddiqui, Moneeza K, Etheridge, Amy, Innocenti, Federico, Xu, Fei, Li, Josephine H, Beulens, Joline W, van der Heijden, Amber A, Slieker, Roderick C, Chang, Yu-Chuan, Mercader, Josep M, Kaur, Varinderpal, Witte, John S, Lee, Ming Ta Michael, Kamatani, Yoichiro, Momozawa, Yukihide, Kubo, Michiaki, Palmer, Colin N A, Florez, Jose C, Hedderson, Monique M, 't Hart, Leen M, Giacomini, Kathleen M, Pearson, Ewan R

Volltext