Hereditary non polyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds

- Scott, Rodney J., McPhillips, Mary, Meldrum, Cliff J., Fitzgerald, Patrick E., Adams, Kirsten, Spigelman, Allan D., du Sart, Desiree, Tucker, Kathy, Kirk, Judy, Hunter Family Cancer Service,

Genetic evidence for a distinct subtype of schizophrenia characterized by pervasive cognitive deficit

- Hallmayer, Joachim F., Badcock, Johanna, Hollingsworth, Kate, Corder, Elizabeth H., Dragović, Milan, Howell, Sarah, Michie, Patricia T., Rock, Daniel, Vile, David, Williams, Rachael, Jablensky, Assen, Kalaydjieva, Luba

Genetic evidence for a distinct subtype of schizophrenia characterized by pervasive cognitive deficit

- Hallmayer, J.F., Badcock, J., Dragovi, M., Howell, S., Michie, Patricia Therese, Rock, D., Vile, D., Williams, R., Jablensky, A., Kalaydjieva, L., Hollingsworth, K., Corder, E.H.

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

- Jensen, L. R., Amende, M., Gurok, U., Moser, B., Gimmel, V., Tzschach, A., Janecke, A. R., Tariverdian, G., Chelly, J., Fryns, J. P., Van Esch, H., Kleefstra, T., Hamel, B., Moraine, C., Gecz, J., Turner, Gillian, Reinhardt, R., Kalscheuer, V. M., Ropers, H. H., Lenzner, S.

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

- Molinari, Florence, Foulquier, François, Matthijs, Gert, Gecz, Jozef, Munnich, Arnold, Colleaux, Laurence, Tarpey, Patrick S., Morelle, Willy, Boissel, Sarah, Teague, Jon, Edkins, Sarah, Futreal, P. Andrew, Stratton, Michael R., Turner, Gillian

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

- Gilfillan, Gregor D., Selmer, Kaja K., Sjøholm, Hans, Server, Andres, Samuelsson, Lena, Christianson, Arnold, Tarpey, Patrick, Whibley, Annabel, Stratton, Michael R., Futreal, P. Andrew, Teague, Jon, Edkins, Sarah, Roxrud, Ingrid, Gecz, Jozef, Turner, Gillian, Raymond, F. Lucy, Schwartz, Charles, Stevenson, Roger E., Undlien, Dag E., Strømme, Petter, Smith, Raffaella, Kyllerman, Mårten, Eiklid, Kristin, Kroken, Mette, Mattingsdal, Morten, Egeland, Thore, Stenmark, Harald

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

- Froyen, Guy, Corbett, Mark, Chelly, Jamel, Sanlaville, Damien, van Bokhoven, Hans, Ropers, Hans-Hilger, Laumonnier, Frederic, Ranieri, Enzo, Schwartz, Charles E., Abidi, Fatima, Tarpey, Patrick S., Futreal, P. Andrew, Vandewalle, Joke, Whibley, Annabel, Raymond, F. Lucy, Stratton, Michael R., Fryns, Jean-Pierre, Scott, Rodney, Peippo, Maarit, Sipponen, Marjatta, Partington, Michael, Mowat, David, Field, Michael, Jarvela, Irma, Hackett, Anna, Marynen, Peter, Turner, Gillian, Gécz, Jozef, Lawrence, Owen, Meldrum, Cliff, Bauters, Marijke, Govaerts, Karen, Vandeleur, Lucianne, Van Esch, Hilde

Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases

- Gusev, Alexander, Lee, S. Hong, Kähler, Anna K., Hultman, Christina M., Purcell, Shaun M., McCarroll, Steven A., Daly, Mark, Pasaniuc, Bogdan, Sullivan, Patrick F., Neale, Benjamin M., Wray, Naomi R., Raychaudhuri, Soumya, Trynka, Gosia, Price, Alkes L., Finucane, Hilary, Vilhjálmsson, Bjarni J., Xu, Han, Zang, Chongzhi, Ripke, Stephan, Bulik-Sullivan, Brendan, Stahl, Eli

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.

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

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.

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