Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
- Creator: 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
- Resource Type: journal article
- Date: 2008
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
- Creator: 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
- Resource Type: journal article
- Date: 2008
Polymorphisms in a putative enhancer at the 10q21.2 breast cancer risk locus regulate NRBF2 expression
- Creator: 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.
- Resource Type: journal article
- Date: 2015
Polygenic risk scores for prediction of breast cancer and breast cancer subtypes
- Creator: 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
- Resource Type: journal article
- Date: 2019
Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases
- Creator: 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
- Resource Type: journal article
- Date: 2014
Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation
- Creator: 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
- Resource Type: journal article
- Date: 2008
Nested inversion polymorphisms predispose chromosome 22q11.2 to meiotic rearrangements
- Creator: 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.
- Resource Type: journal article
- Date: 2017
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
- Creator: 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.
- Resource Type: journal article
- Date: 2005
Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures
- Creator: 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
- Resource Type: journal article
- Date: 2015
Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome in humans and ciliopathy phenotypes in Zebrafish
- Creator: 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.
- Resource Type: journal article
- Date: 2017
Modeling linkage disequilibrium increases accuracy of polygenic risk scores
- Creator: 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
- Resource Type: journal article
- Date: 2015
Hereditary non polyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds
- Creator: 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,
- Resource Type: journal article
- Date: 2001
Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures
- Creator: 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
- Resource Type: journal article
- Date: 2016
Genome analyses of >200,000 individuals identify 58 loci for chronic inflammation and highlight pathways that link inflammation and complex disorders
- Creator: 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
- Resource Type: journal article
- Date: 2018
Genetics-informed precision treatment formulation in schizophrenia and bipolar disorder
- Creator: Reay, William R. , Geaghan, Michael P. , Atkins, Joshua R. , Carr, Vaughan J. , Green, Melissa J. , Cairns, Murray J.
- Resource Type: journal article
- Date: 2022
Genetic evidence for a distinct subtype of schizophrenia characterized by pervasive cognitive deficit
- Creator: 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
- Resource Type: journal article
- Date: 2005
Genetic evidence for a distinct subtype of schizophrenia characterized by pervasive cognitive deficit
- Creator: 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.
- Resource Type: journal article
- Date: 2005
Exome-derived adiponectin-associated variants implicate obesity and lipid biology
- Creator: 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.
- Resource Type: journal article
- Date: 2019
Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood
- Creator: 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
- Resource Type: journal article
- Date: 2018
DNA polymerase epsilon deficiency causes IMAGe syndrome with variable immunodeficiency
- Creator: 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
- Resource Type: journal article
- Date: 2018