A Multi-Layer Functional Genomic Analysis to Understand Noncoding Genetic Variation in Lipids

- Ramdas, Shweta, Judd, Jonathan, Bhatti, Konain Fatima, Noordam, R, Mauro, P, Matteo, F, McDaid, AF, Marques-Vidal, P, Wielscher, M, Trompet, S, Sattar, N, Mollehave, LT, Munz, M, Vedantam, Sailaja, Zeng, L, Huang, J, Yang, B, Poveda, A, Kurbasic, A, Schonherr, S, Forer, L, Scholz, M, Galesloot, TE, Bradfield, JP, Winkler, Thomas W., Ruotsalainen, SE, Daw, EW, Zmuda, JM, Mitchell, JS, Fuchsberger, C, Christensen, H, Brody, JA, Le, P, Feitosa, MF, Wojczynski, MK, Locke, Adam E., Hemerich, D, Preuss, M, Mangino, M, Christofidou, P, Verweij, N, Benjamins, JW, Engmann, J, Noah, TL, Verma, A, Slieker, RC, Marouli, Eirini, Lo, KS, Zilhao, NR, Kleber, ME, Delgado, GE, Huo, S, Ikeda, DD, Iha, H, Yang, J, Liu, J, Demirkan, A, Zajac, Greg J. M., Leonard, HL, Marten, J, Emmel, C, Schmidt, B, Smyth, LJ, Canadas-Garre, M, Wang, C, Nakatochi, M, Wong, A, Hutri-Kahonen, N, Wu, Kuan-Han H., Sim, X, Xia, R, Huerta-Chagoya, A, Fernandez-Lopez, JC, Lyssenko, V, Nongmaithem, SS, Sankareswaran, A, Irvin, MR, Oldmeadow, C, Kim, H-N, Ntalla, Ioanna, Ryu, S, Timmers, PRHJ, Arbeeva, L, Dorajoo, R, Lange, LA, Prasad, G, Lores-Motta, L, Pauper, M, Long, J, Li, X, Hui, Qin, Theusch, E, Takeuchi, F, Spracklen, CN, Loukola, A, Bollepalli, S, Warner, SC, Wang, YX, Wei, WB, Nutile, T, Ruggiero, D, Klarin, Derek, Sung, YJ, Chen, S, Liu, F, Kentistou, KA, Banas, B, Morgan, A, Meidtner, K, Bielak, LF, Smith, JA, Graham, Sarah E., Hilliard, Austin T., Hebbar, P, Farmaki, A-E, Hofer, E, Lin, M, Concas, MP, Vaccargiu, S, van der Most, PJ, Pitkanen, N, Cade, BE, van der Laan, SW, Wang, Z, Chitrala, KN, Weiss, S, Bentley, AR, Doumatey, AP, Adeyemo, AA, Lee, JY, Petersen, ERB, Nielsen, AA, Choi, HS, Nethander, M, Xue, C, Freitag-Wolf, S, Southam, L, Rayner, NW, Wang, Carol A., Lin, S-Y, Wang, J-S, Couture, C, Lyytikainen, L-P, Nikus, K, Cuellar-Partida, G, Thorleifsson, G, Vestergaard, H, Hidalgo, B, Giannakopoulou, O, Cai, Q, Obura, MO, van Setten, J, He, KY, Tang, H, Terzikhan, N, Shin, JH, Helgadottir, A, Jackson, RD, Reiner, AP, Martin, LW, Chen, Z, Li, L, Kawaguchi, T, Thiery, J, Bis, JC, Launer, LJ, Li, H, Gudbjartsson, DF, Nalls, MA, Raitakari, OT, Ichihara, S, Wild, SH, Nelson, CP, Campbell, H, Jager, S, Nabika, T, Al-Mulla, F, Niinikoski, H, Holm, H, Braund, PS, Kolcic, I, Kovacs, P, Giardoglou, T, Katsuya, T, de Kleijn, D, de Borst, GJ, Kim, EK, Adams, HHH, Ikram, MA, Olafsson, I, Zhu, X, Asselbergs, FW, Kraaijeveld, AO, Beulens, JWJ, Shu, X-O, Rallidis, LS, Pedersen, O, Hansen, T, Mitchell, P, Hewitt, AW, Hwang, MY, Kahonen, M, Perusse, L, Bouchard, C, Tonjes, A, Chen, Y-DI, Pennell, CE, Mori, TA, Lieb, W, Franke, A, Ohlsson, C, Han, S, Mellstrom, D, Cho, YS, Lee, H, Yuan, J-M, Koh, W-P, Rhee, SY, Woo, J-T, Heid, IM, Stark, KJ, Zimmermann, ME, Kanoni, Stavroula, Akiyama, M, Volzke, H, Homuth, G, Evans, MK, Zonderman, AB, Polasek, O, Pasterkamp, G, Hoefer, IE, Redline, S, Pahkala, K, Oldehinkel, AJ, Sakaue, S, Snieder, H, Biino, G, Schmidt, R, Schmidt, H, Bandinelli, S, Dedoussis, G, Thanaraj, TA, Peyser, PA, Kato, N, Schulze, MB, Terao, C, Girotto, G, Boger, CA, Jung, B, Joshi, PK, Bennett, DA, De Jager, PL, Lu, X, Mamakou, V, Brown, M, Caulfield, MJ, Kanai, M, Munroe, PB, Guo, X, Ciullo, M, Jonas, JB, Samani, NJ, Kaprio, J, Pajukanta, P, Tusie-Luna, T, Aguilar-Salinas, CA, Adair, LS, Zhou, W, Bechayda, SA, de Silva, HJ, Wickremasinghe, AR, Krauss, RM, Wu, J-Y, Zheng, W, den Hollander, A, Bharadwaj, D, Correa, A, Wilson, JG, Brumpton, BM, Lind, L, Heng, C-K, Nelson, AE, Golightly, YM, Wilson, JF, Penninx, B, Kim, H-L, Attia, John, Scott, RJ, Rao, DC, Rasheed, H, Arnett, DK, Walker, M, Scott, LJ, Koistinen, HA, Chandak, GR, Mercader, JM, Villalpando, CG, Orozco, L, Fornage, M, Tai, ES, Havulinna, AS, van Dam, RM, Lehtimaki, T, Chaturvedi, N, Yokota, M, Reilly, DF, McKnight, AJ, Kee, F, Jockel, K-H, McCarthy, M, Veturi, Y, Palmer, CNA, Vitart, V, Hayward, C, Simonsick, E, van Duijn, CM, Jin, Z-B, Lu, F, Hishigaki, H, Lin, X, Marz, W, Pacheco, JA, Gudnason, V, Tardif, J-C, Lettre, G, Hart, LMT, Elders, PJM, Rader, DJ, Damrauer, SM, Kumari, M, Kivimaki, M, van der Harst, P, Wang, Yuxuan, Rosenthal, EA, Spector, TD, Loos, RJF, Province, MA, Parra, EJ, Cruz, M, Psaty, BM, Brandslund, I, Pramstaller, PP, Rotimi, CN, Christensen, K, Lingren, T, Ripatti, S, Widen, E, Hakonarson, H, Grant, SFA, Kiemeney, L, de Graaf, J, Loeffler, M, Kronenberg, F, Gu, D, Erdmann, J, Feng, Q, Schunkert, H, Franks, PW, Linneberg, A, Jukema, JW, Khera, A, Mannikko, M, Jarvelin, M-R, Kutalik, Z, Francesco, C, Mook-Kanamori, DO, Kullo, IJ, van Dijk, KW, Watkins, H, Strachan, DP, Grarup, N, Sever, P, Poulter, N, Sheu, WH-H, Rotter, J, Dantoft, TM, Karpe, F, Narita, A, Neville, MJ, Timpson, NJ, Cheng, C-Y, Wong, T-Y, Khor, CC, Sabanayagam, C, Peters, A, Gieger, C, Hattersley, AT, Takayama, J, Pedersen, NL, Magnusson, PKE, Boomsma, D, de Geus, EJC, Cupples, LA, van Meurs, JBJ, Ikram, A, Ghanbari, M, Gordon-Larsen, P, Huang, W, Martin, HC, Kim, YJ, Tabara, Y, Wareham, NJ, Langenberg, C, Zeggini, E, Tuomilehto, J, Kuusisto, J, Laakso, M, Ingelsson, E, Abecasis, G, Hunt, KA, Chambers, JC, Kooner, JS, de Vries, PS, Morrison, AC, Hazelhurst, S, Ramsay, M, North, KE, Daviglus, M, Kraft, P, Martin, NG, Trivedi, B, Whitfield, JB, Abbas, S, Saleheen, D, Walters, RG, Holmes, M, Black, C, Smith, BH, Baras, A, Justice, AE, Buring, JE, Haessler, J, Ridker, PM, Chasman, D, Kooperberg, C, Tamiya, G, Yamamoto, M, van Heel, DA, Trembath, RC, Wei, W-Q, Jarvik, GP, Namjou, B, Surakka, Ida, Giulianini, F, Hayes, MG, Ritchie, MD, Jousilahti, P, Salomaa, V, Hveem, K, Asvold, BO, Kubo, M, Kamatani, Y, Okada, Y, Murakami, Y, Bradford, Y, Kim, B-J, Thorsteinsdottir, U, Stefansson, K, Zhang, J, Chen, YE, Ho, Y-L, Lynch, JA, Tsao, PS, Chang, K-M, Cho, K, Miller, JE, O'Donnell, CJ, Gaziano, JM, Wilson, P, Mohlke, KL, Frayling, TM, Hirschhorn, JN, Kathiresan, S, Boehnke, M, Grant, S, Natarajan, P, Campbell, A, Sun, Y, Morris, AP, Deloukas, P, Peloso, G, Assimes, TL, Willer, CJ, Brown, CD, Lin, K, Millwood, IY, Rasheed, A, Hindy, G, Faul, JD, Zhao, W, Wenz, Brandon, Weir, DR, Turman, C, Huang, H, Graff, M, Choudhury, A, Sengupta, D, Mahajan, A, Brown, MR, Zhang, W, Yu, K, Clarke, Shoa L., Schmidt, EM, Pandit, A, Gustafsson, S, Yin, X, Luan, J, Zhao, J-H, Matsuda, F, Jang, H-M, Yoon, K, Medina-Gomez, C, Chesi, Alessandra, Pitsillides, A, Hottenga, JJ, Wood, AR, Ji, Y, Gao, Z, Haworth, S, Mitchell, RE, Chai, JF, Aadahl, M, Bjerregaard, AA, Wells, Andrew, Yao, J, Manichaikul, A, Lee, W-J, Hsiung, CA, Warren, HR, Ramirez, J, Bork-Jensen, J, Karhus, LL, Goel, A, Sabater-Lleal, M

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

- Choufani, Sanaa, McNiven, Vanda, Aul, Ritu B., Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, Cytrynbaum, Cheryl, Dudding-Byth, Tracy, Piard, J, Brischoux-Boucher, E, Vitobello, A, Faivre, L, Bournez, M, Tran-Mau, F, Maystadt, I, Fernandez-Jaen, A, Alvarez, S, Jangjoo, Maryam, Garcia-Prieto, ID, Alkuraya, FS, Alsaif, HS, Rahbeeni, Z, El-Akouri, K, Al-Mureikhi, M, Spillmann, RC, Shashi, V, Sanchez-Lara, PA, Graham, JM, Adam, Margaret P., Roberts, A, Chorin, O, Evrony, GD, Kraatari-Tiri, M, Dudding-Byth, T, Richardson, A, Hunt, D, Hamilton, L, Dyack, S, Mendelsohn, BA, Bjornsson, Hans T., Rodriguez, N, Sanchez-Martinez, R, Tenorio-Castano, J, Nevado, J, Lapunzina, P, Tirado, P, Rodrigues, M-TCA, Quteineh, L, Innes, AM, Kline, AD, Harris, Jacqueline, Au, PYB, Weksberg, R, Dyment, David A., Graham, Gail E., Nezarati, Marjan M.

Genetics-informed precision treatment formulation in schizophrenia and bipolar disorder

- Reay, William R., Geaghan, Michael P., Atkins, Joshua R., Carr, Vaughan J., Green, Melissa J., Cairns, Murray J.

Complete sequence of the 22q11.2 allele in 1,053 subjects with 22q11.2 deletion syndrome reveals modifiers of conotruncal heart defects

- Zhao, Yingjie, Diacou, Alexander, Johnston, H. Richard, Musfee, Fadi I., McDonald-McGinn, Donna M., McGinn, Daniel, Crowley, T. Blaine, Repetto, Gabriela M., Swillen, Ann, Breckpot, Jeroen, Vermeesch, Joris R., Kates, Wendy R., Digilio, M. Cristina, Unolt, Marta, Marino, Bruno, Pontillo, Maria, Armando, Marco, Di Fabio, Fabio, Vicari, Stefano, van den Bree, Marianne, Campbell, Linda, Moss, Hayley, Owen, Michael J., Murphy, Kieran C., Murphy, Clodagh M., Murphy, Declan, Schoch, Kelly, Shashi, Vandana, Tassone, Flora, Simon, Tony J., Shprintzen, Robert J., Philip, Nicole, Heine-Suñer, Damian, García-Miñaúr, Sixto, Fernández, Luis, Antonarakis, Stylianos E., Biondi, Massimo, Boot, Erik, Breetvelt, Elemi, Busa, Tiffany, Butcher, Nancy, Buzzanca, Antonino, Carmel, Miri, Cleynen, Isabelle, Cutler, David, Dallapiccola, Bruno, de la Fuente Sanches, Maria Angeles, Epstein, Michael P., Evers, Rens, Fernandez, L, Fritsch, Rosemarie, Algas, Fernando Garcia, Guo, Tingwei, Gur, Raquel, Hestand, Matthew S., Heung, Tracy, Hooper, Stephen, Jin, Andrea, Kushan-Wells, Leila, Laorden-Nieto, Alejandra Terese, Lattanzi, Guido, Marshall, Christian, McCabe, Kathryn, Michaelovsky, Elena, Ornstein, Claudia, Silversides, Candice, Tran, Oanh, van Duin, Esther D. A., Vergaelen, Elfi, Warren, Steve T., Weinberger, Ronnie, Weizman, Abraham, Zhang, Zhengdong, Zwick, Michael, Bearden, Carrie E., Vingerhoets, Claudia, van Amelsvoort, Therese, Eliez, Stephan, Schneider, Maude, Vorstman, Jacob A. S., Gothelf, Doron, Zackai, Elaine, Agopian, A. J., Gur, Raquel E., Bassett, Anne S., Emanuel, Beverly S., Goldmuntz, Elizabeth, Mitchell, Laura E., Wang, Tao, Morrow, Bernice E.

De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay

- Vissers, Lisenka E. L. M., Kalvakuri, Sreehari, de Boer, Elke, Geuer, Sinje, Oud, Machteld, van Outersterp, Inge, Kwint, Michael, Witmond, Melde, Kersten, Simone, Polla, Daniel L., Weijers, Dilys, Begtrup, Amber, McWalter, Kristy, Ruiz, Anna, Gabau, Elisabeth, Morton, Jenny E. V., Griffith, Christopher, Weiss, Karin, Gamble, Candace, Bartley, James, Goel, Himanshu

Bioinformatics-based identification of expanded repeats:a non-reference intronic pentamer expansion in RFC1 causes CANVAS

- Rafehi, Haloom, Szmulewicz, David J., Barcina, Maria Garcia, Breen, David P., Chancellor, Andrew M., Cremer, Phillip D., Delatycki, Martin B., Fogel, Brent L., Hackett, Anna, Halmagyi, G. Michael, Kapetanovic, Solange, Lang, Anthony, Bennett, Mark F., Mossman, Stuart, Mu, Weiyi, Patrikios, Peter, Perlman, Susan L., Rosemergy, Ian, Storey, Elsdon, Watson, Shaun R. D., Wilson, Michael A., Zee, David S., Valle, David, Sobreira, Nara L. M., Amor, David J., Bahlo, Melanie, Lockhart, Paul J., Pope, Kate, Smith, Katherine R., Gillies, Greta, Diakumis, Peter, Dolzhenko, Egor, Eberle, Michael A.

Exome-derived adiponectin-associated variants implicate obesity and lipid biology

- Spracklen, Casandra N., Karaderi, Tugce, Yaghootkar, Hanieh, Schurmann, Claudia, Fine, Rebecca S., Kutalik, Zoltan, Preuss, Michael H., Lu, Yingchang, Wittemans, Laura B.L., Allison, Matthew, Amin, Najaf, Auer, Paul L., Bartz, Traci M., Blüher, Matthias, Boehnke, Michael, Borja, Judith B., Pennell, Craig E., Wang, Carol A.

Polygenic risk scores for prediction of breast cancer and breast cancer subtypes

- Mavaddat, Nasim, Michailidou, Kyriaki, Dennis, Joe, Lush, Michael, Lee, Andrew, Tyrer, Jonathan P., Chen, Ting-Huei, Wang, Qin, Bolla, Manjeet K., Yang, Xin, Adank, Muriel A., Ahearn, Thomas, Aittomäki, Kristina, Allen, Jamie, Andrulis, Irene L., Anton-Culver, Hoda, Antonenkova, Natalia N., Arndt, Volker, Aronson, Kristan J., Scott, Rodney J., Auer, Paul L., Auvinen, P, Barrdahl, M, Beane Freeman, LE, Beckmann, MW, Behrens, S, Benitez, J, Bermisheva, M, Bernstein, L, Blomqvist, C, Bogdanova, NV, Bojesen, SE, Bonanni, B, Børresen-Dale, AL, Brauch, H, Bremer, M, Brenner, H, Brentnall, A, Brock, IW, Brooks-Wilson, A, Fachal, Laura, Brucker, SY, Brüning, T, Burwinkel, B, Campa, D, Carter, BD, Castelao, JE, Chanock, SJ, Chlebowski, R, Christiansen, H, Clarke, CL, Collée, JM, Cordina-Duverger, E, Cornelissen, S, Couch, FJ, Cox, A, Cross, SS, Czene, K, Daly, MB, Devilee, P, Dörk, T, dos-Santos-Silva, I, Dumont, M, Durcan, L, Dwek, M, Eccles, DM, Ekici, AB, Eliassen, AH, Ellberg, C, Engel, C, Eriksson, M, Evans, DG, Fasching, PA, Figueroa, J, Fletcher, O, Flyger, H, Försti, A, Fritschi, L, Gabrielson, M, Gago-Dominguez, M, Gapstur, SM, García-Sáenz, JA, Gaudet, MM, Georgoulias, V, Giles, GG, Gilyazova, IR, Glendon, G, Goldberg, MS, Goldgar, DE, González-Neira, A, Grenaker Alnæs, GI, Grip, M, Gronwald, J, Grundy, A, Guénel, P, Haeberle, L, Hahnen, E, Haiman, CA, Håkansson, N, Hamann, U, Hankinson, SE

Bi-allelic recessive loss-of-function variants in FANCM cause non-obstructive azoospermia

- Kasak, Laura, Punab, Margus, Smith, Lee B., Conrad, Donald F., Laan, Maris, Nagirnaja, Liina, Grigorova, Marina, Minajeva, Ave, Lopes, Alexandra M., Punab, Anna Maria, Aston, Kenneth I., Carvalho, Filipa, Laasik, Eve

DNA polymerase epsilon deficiency causes IMAGe syndrome with variable immunodeficiency

- Logan, Clare V., Murray, Jennie E., Parry, David A., Robertson, Andrea, Bellelli, Roberto, Tarnauskaitė, Žygimantė, Challis, Rachel, Cleal, Louise, Borel, Valerie, Fluteau, Adeline, Santoyo-Lopez, Javier, Aitman, Timothy J., Biankin, Andrew V., Cooke, Susanna L., Humphrey, Wendy Inglis, Martin, Sacha, Mennie, Lynne, Meynert, Alison, Miedzybrodzka, Zosia, Murphy, Fiona, Goel, Himanshu

Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood

- Ni, Guiyan, Moser, Gerhard, Ripke, Stephan, Neale, Benjamin M., Corvin, Aiden, Walters, James T. R., Farh, Kai-How, Holmans, Peter A., Lee, Phil, Bulik-Sullivan, Brendan, Collier, David A., Huang, Hailiang, Pers, Tune H., Agartz, Ingrid, Agerbo, Esben, Albus, Margot, Alexander, Madeline, Amin, Farooq, Bacanu, Silviu A., Henskens, Frans A., Loughland, Carmel A., Michie, Patricia T., Schall, Ulrich, Scott, Rodney J., Wray, Naomi R., Lee, S. Hong

Genome analyses of >200,000 individuals identify 58 loci for chronic inflammation and highlight pathways that link inflammation and complex disorders

- Ligthart, Symen, Vaez, Ahmad, Võsa, Urmo, Stathopoulou, Maria G., de Vries, Paul S., Prins, Bram P., Van der Most, Peter J., Tanaka, Toshiko, Naderi, Elnaz, Rose, Lynda M., Wu, Ying, Karlsson, Robert, Barbalic, Maja, Lin, Honghuang, Pool, René, Zhu, Gu, Macé, Aurélien, Sidore, Carlo, Trompet, Stella, Mangino, Massimo, Sabater-Lleal, Maria, Oldmeadow, Christopher, Holliday, Elizabeth G., Attia, John R., Scott, Rodney J., McEvoy, Mark

A recurrent De Novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations

- Palmer, Elizabeth E., Kumar, Raman, Oufadem, Myriam, Lalani, Seema R., Lewis, Andrea M., Xia, Fan, Tam, Allison, Webster, Richard, Brammah, Susan, Filippini, Francesca, Pollard, John, Spies, Judy, Gordon, Christopher T., Minoche, Andre E., Cowley, Mark J., Risen, Sarah, Powell-Hamilton, Nina N., Tusi, Jessica E., Immken, LaDonna, Nagakura, Honey, Bole-Feysot, Christine, Nitschké, Patrick, Garrigue, Alexandrine, Shaw, Marie, de Saint Basile, Geneviève, Kivuva, Emma, Scott, Richard H., Rendon, Augusto, Munnich, Arnold, Newman, William, Kerr, Bronwyn, Besmond, Claude, Rosenfeld, Jill A., Amiel, Jeanne, Hubert, Laurence, Field, Michael, Gecz, Jozef, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy

Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome in humans and ciliopathy phenotypes in Zebrafish

- Van De Weghe, Julie C., Rusterholz, Tamara D. S., Gesemann, Matthias, Goel, Himanshu, Birk, Ohad S., Alanzi, Talal, Rawashdeh, Rifaat, Khan, Arif O., University of Washington Center for Mendelian Genomics,, Bamshad, Michael J., Nickerson, Deborah A., Neuhauss, Stephen C. F., Latour, Brooke, Grout, Megan E., Aldinger, Kimberly A., Shaheen, Ranad, Dempsey, Jennifer C., Maddirevula, Sateesh, Cheng, Yong-Han H., Phelps, Ian G.

Nested inversion polymorphisms predispose chromosome 22q11.2 to meiotic rearrangements

- Demaerel, Wolfram, Hestand, Matthew S., Breckpot, Jeroen, Devriendt, Koenraad, Vermeesch, Joris R., International 22q11.2 Brain and Behavior Consortium,, Campbell, Linda, Vergaelen, Elfi, Swillen, Ann, López-Sánchez, Marcos, Pérez-Jurado, Luis A., McDonald-McGinn, Donna M., Zackai, Elaine, Emanuel, Beverly S., Morrow, Bernice E.

A common variant at the 14q32 endometrial cancer risk locus activates AKT1 through YY1 binding

- Painter, Jodie N., Kaufmann, Susanne, Hoivik, Erling A., Goode, Ellen L., Scott, Rodney J., Tomlinson, Ian, Dunning, Alison M., Easton, Douglas F., French, Juliet D., Salvesen, Helga B., Pollock, Pamela M., Thompson, Deborah J., O'Mara, Tracy A., Spurdle, Amanda B., Edwards, Stacey L., Hillman, Kristine M., Sivakumaran, Haran, Darabi, Hatef, Cheng, Timothy H.T., Pearson, John, Kazakoff, Stephen, Waddell, Nicola

Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures

- Petrovski, Slavé, Kury, Sébastien, Besnard, Thomas, Becraft, Emily, Wadley, Alexandrea, Politi, Anya Revah, Colombo, Sophie, Zhu, Xiaolin, Ren, Zhong, Andrews, Ian, Dudding-Byth, Tracy, Schneider, Amy L., Myers, Candace T., Anyane-Yeboa, Kwame, Cogné, Benjamin, Bialer, Martin, Xia, Fan, Hemati, Parisa, Riviello, James, Mehaffey, Michele

Modeling linkage disequilibrium increases accuracy of polygenic risk scores

- Vilhjálmsson, Bjarni J., Yang, Jian, Hayeck, Tristan, Won, Hong-Hee, Schizophrenia Working Group of the Psychiatric Genomics Consortium,, Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) study,, Finucane, Hilary K., Gusev, Alexander, Lindström, Sara, Ripke, Stephan, Genovese, Giulio, Loh, Po-Ru, Bhatia, Gaurav, Do, Ron

Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures

- Carvill, Gemma L., McMahon, Jacinta M., Mecarelli, Oriano, Smith, Robert L., Leventer, Richard J., Møller, Rikke S., Nikanorova, Marina, Dimova, Petia, Jordanova, Albena, Petrou, Steven, Helbig, Ingo, Striano, Pasquale, Schneider, Amy, Zemel, Matthew, Myers, Candace T., Saykally, Julia, Nguyen, John, Robbiano, Angela, Zara, Frederico, Specchio, Nicola

Polymorphisms in a putative enhancer at the 10q21.2 breast cancer risk locus regulate NRBF2 expression

- Darabi, Hatef, McCue, Karen, Dennis, Joe, Cox, A., Cross, S. S., Luben, R., Khaw, K.-T., Choi, J.-Y., Kang, D., Hartman, M., Lim, W. Y., Kabisch, M., Torres, D., Wang, Qin, Jakubowska, A., Lubinski, J., McKay, J., Sangrajrang, S., Toland, A. E., Yannoukakos, D., Shen, C.-Y., Yu, J.-C., Ziogas, A., Schoemaker, M. J., Canisius, Sander, Swerdlow, A., Borresen-Dale, A.-L., Kristensen, V., French, J. D., Edwards, S. L., Dunning, A. M., Easton, D. F., Hall, P., Chenevix-Trench, G., Scott, Christopher G., Apicella, Carmel, Hopper, John L., Southey, Melissa C., Stone, Jennifer, Broeks, Annegien, Schmidt, Marjanka K., Beesley, Jonathan, Scott, Rodney J., Lophatananon, Artitaya, Muir, Kenneth, Beckmann, Matthias W., Ekici, Arif B., Fasching, Peter A., Heusinger, Katharina, dos-Santos-Silva, Isabel, Peto, Julian, Tomlinson, Ian, Michailidou, Kyriaki, Sawyer, Elinor J., Burwinkel, Barbara, Marme, Frederik, Guénel, Pascal, Truong, Thérèse, Bojesen, Stig E., Flyger, Henrik, Benitez, Javier, González-Neira, Anna, Anton-Culver, Hoda, Nord, Silje, Neuhausen, Susan L., Arndt, Volker, Brenner, Hermann, Engel, Christoph, Meindl, Alfons, Schmutzler, Rita K., Arnold, Norbert, Brauch, Hiltrud, Hamann, Ute, Chang-Claude, Jenny, Kar, Siddhartha, Khan, Sofia, Nevanlinna, Heli, Ito, Hidemi, Matsuo, Keitaro, Bogdanova, Natalia V., Dörk, Thilo, Lindblom, Annika, Margolin, Sara, Kosma, Veli-Matti, Mannermaa, Arto, Humphreys, Keith, Tseng, Chiu-chen, Wu, Anna H., Floris, Giuseppe, Lambrechts, Diether, Rudolph, Anja, Peterlongo, Paolo, Radice, Paolo, Couch, F. J., Vachon, C., Giles, G. G., Thompson, Deborah, McLean, C., Milne, R. L., Dugué, P.-A., Haiman, C. A., Maskarinec, G., Woolcott, C., Henderson, B. E., Goldberg, M. S., Simard, J., Teo, S. H., Ghoussaini, Maya, Mariapun, S., Helland, A., Haakensen, V., Zheng, W., Beeghly-Fadiel, A., Tamimi, R., Jukkola-Vuorinen, A., Winqvist, R., Andrulis, I. L., Knight, J. A., Bolla, Manjeet K., Devilee, P., Tollenaar, R. A. E. M., Figueroa, J., García-Closas, M., Czene, K., Hooning, M. J., Tilanus-Linthorst, M., Li, J., Gao, Y.-T., Shu, X.-O.