MicroRNA binding site variation is enriched in psychiatric disorders
- Creator: Geaghan, Michael P. , Reay, William R. , Cairns, Murray J.
- Resource Type: journal article
- Date: 2022
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability
- Creator: 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
- Resource Type: journal article
- Date: 2021
IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy
- Creator: Shoubridge, Cheryl , Harvey, Robert J. , Dudding-Byth, Tracy
- Resource Type: journal article
- Date: 2019
ALG1-CDG: clinical and molecular characterization of 39 unreported patients
- Creator: 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.
- Resource Type: journal article
- Date: 2016
Fryns syndrome associated with recessive mutations in PIGN in two separate families
- Creator: 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
- Resource Type: journal article
- Date: 2016
Mandibulofacial dysostosis with microcephaly: mutation and database update
- Creator: 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.
- Resource Type: journal article
- Date: 2015
Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies
- Creator: 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.
- Resource Type: journal article
- Date: 2011
Leiden Open Variation Database of the MUTYH gene
- Creator: 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
- Resource Type: journal article
- Date: 2010
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion
- Creator: 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
- Resource Type: journal article
- Date: 2010
Planning the Human Variome Project: the Spain report
- Creator: 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.
- Resource Type: journal article
- Date: 2009