MicroRNA binding site variation is enriched in psychiatric disorders

- Geaghan, Michael P., Reay, William R., Cairns, Murray J.

Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability

- Field, Michael J., Kumar, Raman, Gardner, Alison E., Sullivan, Patricia, Ha, Thuong T., Schwartz, Charles E., Cowley, Mark J., Dinger, Marcel E., Palmer, Elizabeth E., Christie, Louise, Shaw, Marie, Roscioli, Tony, Hackett, Anna, Gecz, Jozef, Corbett, MA, Kayumi, Sayaka, Shoubridge, Cheryl A., Ewans, Lisa J., Ivancevic, Atma M., Dudding-Byth, Tracy, Carroll, Renée, Kroes, Thessa

IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy

- Shoubridge, Cheryl, Harvey, Robert J., Dudding-Byth, Tracy

ALG1-CDG: clinical and molecular characterization of 39 unreported patients

- Ng, Bobby G., Shiryaev, Sergey A., Barone, Rita, Berry, Gerard T., Brumbaugh, Jane E., Buckingham, Kati J., Clarkson, Katie, Cole, F. Sessions, O'Connor, Shawn, Cooper, Gregory M., Van Coster, Rudy, Demmer, Laurie A., Rymen, Daisy, Diogo, Luisa, Fay, Alexander J., Ficicioglu, Can, Fiumara, Agata, Gahl, William A., Ganetzky, Rebecca, Goel, Himanshu, Harshman, Lyndsay A., He, Miao, Jaeken, Jaak, Eklund, Erik A., James, Philip M., Katz, Daniel, Keldermans, Liesbeth, Kibaek, Maria, Kornberg, Andrew J., Lachlan, Katherine, Lam, Christina, Yaplito-Lee, Joy, Nickerson, Deborah A., Peters, Heidi L., Raymond, Kimiyo, Race, Valerie, Régal, Luc, Rush, Jeffrey S., Rutledge, S. Lane, Shendure, Jay, Souche, Erika, Sparks, Susan E., Trapane, Pamela, Sanchez-Valle, Amarillis, Vilain, Eric, Kircher, Martin, Vøllo, Arve, Waechter, Charles J., Wang, Raymond Y., Wolfe, Lynne A., Wong, Derek A., Wood, Tim, Yang, Amy C., Matthijs, Gert, Freeze, Hudson H., University of Washington Center for Mendelian Genomics, Abdenur, Jose E., Alehan, Fusun, Midro, Alina T., Bamshad, Michael J.

Fryns syndrome associated with recessive mutations in PIGN in two separate families

- McInerney-Leo, Aideen M., Harris, Jessica E., Brown, Matthew A., Leo, Paul J., Wicking, Carol, Duncan, Emma L., Gattas, Michael, Peach, Elizabeth E., Sinnott, Stephen, Dudding-Byth, Tracy, Rajagopalan, Sulekha, Barnett, Christopher P., Anderson, Lisa K., Wheeler, Lawrie

Mandibulofacial dysostosis with microcephaly: mutation and database update

- Huang, Lijia, Vanstone, Megan R., Estrella, Jane, Faghfoury, Hanna, Favaro, Francine P., Goel, Himanshu, Gregersen, Pernille A., Gripp, Karen W., Grix, Art, Guion-Almeida, Maria-Leine, Harr, Margaret H., Hudson, Cindy, Hartley, Taila, Hunter, Alasdair G. W., Johnson, John, Joss, Shelagh K., Kimball, Amy, Kini, Usha, Kline, Antoine D., Lauzon, Julie, Lildballe, Dorte L., López-González, Vanesa, Martinezmoles, Johanna, Osmond, Matthew, Meldrum, Cliff, Mirzaa, Ghayda M., Morel, Chantal F., Morton, Jenny E. V., Pyle, Louise C., Quintero-Rivera, Fabiola, Richer, Julie, Scheuerle, Angela E., Schönewolf-Greulich, Bitten, Shears, Deborah J., Barrowman, Nick, Silver, Josh, Smith, Amanda C., Temple, I. Karen, van de Kamp, Jiddeke M., van Dijk, Fleur S., Vandersteen, Anthony M., White, Sue M., Zackai, Elaine H., Zou, Ruobing, Consortium, Care4Rare Canada, Allanson, Judith, Bulman, Dennis E., Boycott, Kym M., Lines, Matthew A., Baker, Laura, Dabir, Tabib A., Dipple, Katrina M., Dobyns, William B.

Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies

- McKay, Gareth J., Patterson, Chris C., Seland, Johan H., Rahu, Mati, Soubrane, Gisele, Tomazzoli, Laura, Topouzis, Fotis, Vioque, Jesus, Hingorani, Aroon D., Sofat, Reecha, Dean, Michael, Sawitzke, Julie, Chakravarthy, Usha, Seddon, Johanna M., Peter, Inga, Webster, Andrew R., Moore, Anthony T., Yates, John R. W., Cipriani, Valentina, Fritsche, Lars G., Weber, Bernhard H. F., Keilhauer, Claudia N., Lotery, Andrew J., Dasari, Shilpa, Ennis, Sarah, Klein, Michael L., Francis, Peter J., Stambolian, Dwight, Orlin, Anton, Gorin, Michael B., Weeks, Daniel E., Kuo, Chia-Ling, Swaroop, Anand, Othman, Mohammad, Klaver, Caroline C., Kanda, Atsuhiro, Chen, Wei, Abecasis, Goncalo R., Wright, Alan F., Hayward, Caroline, Baird, Paul N., Guymer, Robyn H., Attia, John, Thakkinstian, Ammarin, Silvestri, Giuliana, Vingerling, Johannes R., Ho, Lintje, De Jong, Paulus T. V. M., Fletcher, Astrid E., Young, Ian S.

Leiden Open Variation Database of the MUTYH gene

- Out, Astrid A., Tops, Carli M. J., Fostira, Florentia, Franken, Patrick F., Gaustadnes, Mette, Heinimann, Karl, Hodgson, Shirley V., Hogervorst, Frans B. L., Holinski-Feder, Elke, Lagerstedt-Robinson, Kristina, Olschwang, Sylviane, van den Ouweland , Ans M. W., Nielsen, Maartje, Scott, Rodney J., Weiss, Marjan M., van Minderhout, Ivonne J. H. M., Fokkema, Ivo F. A. C., Buisine, Marie-Pierre, Claes, Kathleen, Colas, Chrystelle, Fodde, Riccardo

Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion

- Clarke, Nigel F., Waddell, Leigh B., Guglieri, Michela, King, Mary D., Farrell, Michael A., Marty, Isabelle, Lunardi, Joel, Monnier, Nicole, North, Kathryn N., Cooper, Sandra T., Perry, Margaret, Smith, Robert L. L., Kornberg, Andrew J., Muntoni, Francesco, Lillis, Suzanne, Straub, Volker, Bushby, Kate

Planning the Human Variome Project: the Spain report

- Kaput, Jim, Cotton, Richard G. H., Bapat, Bharati, Bernstein, Inge T., Bhak, Jong, Bleoo, Stacey L., Blöcker, Helmut, Brenner, Steven E., Burn, John, Bustamante, Mariona, Calzone, Rita, Scott, Rodney J., Hardman, Lauren, Watson, Michael, Aqeel, Aida I. Al, Al-Aama, Jumana Y., Al-Mulla, Fahd, Alonso, Santos, Aretz, Stefan, Auerbach, Arleen D.