A common variant at the 14q32 endometrial cancer risk locus activates AKT1 through YY1 binding
- Creator: 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
- Resource Type: journal article
- Date: 2016
A recurrent De Novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations
- Creator: 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
- Resource Type: journal article
- Date: 2017
Bi-allelic recessive loss-of-function variants in FANCM cause non-obstructive azoospermia
- Creator: 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
- Resource Type: journal article
- Date: 2018
Bioinformatics-based identification of expanded repeats:a non-reference intronic pentamer expansion in RFC1 causes CANVAS
- Creator: 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.
- Resource Type: journal article
- Date: 2019
Complete sequence of the 22q11.2 allele in 1,053 subjects with 22q11.2 deletion syndrome reveals modifiers of conotruncal heart defects
- Creator: 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.
- Resource Type: journal article
- Date: 2020
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
- Creator: 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
- Resource Type: journal article
- Date: 2020
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
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
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
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
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
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
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
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
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
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 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
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
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