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 Multi-Layer Functional Genomic Analysis to Understand Noncoding Genetic Variation in Lipids
- Creator: Ramdas, Shweta , Judd, Jonathan , Bhatti, Konain Fatima , Noordam, R , Mauro, P , Matteo, F , McDaid, AF , Marques-Vidal, P , Wielscher, M , Trompet, S , Sattar, N , Mollehave, LT , Munz, M , Vedantam, Sailaja , Zeng, L , Huang, J , Yang, B , Poveda, A , Kurbasic, A , Schonherr, S , Forer, L , Scholz, M , Galesloot, TE , Bradfield, JP , Winkler, Thomas W. , Ruotsalainen, SE , Daw, EW , Zmuda, JM , Mitchell, JS , Fuchsberger, C , Christensen, H , Brody, JA , Le, P , Feitosa, MF , Wojczynski, MK , Locke, Adam E. , Hemerich, D , Preuss, M , Mangino, M , Christofidou, P , Verweij, N , Benjamins, JW , Engmann, J , Noah, TL , Verma, A , Slieker, RC , Marouli, Eirini , Lo, KS , Zilhao, NR , Kleber, ME , Delgado, GE , Huo, S , Ikeda, DD , Iha, H , Yang, J , Liu, J , Demirkan, A , Zajac, Greg J. M. , Leonard, HL , Marten, J , Emmel, C , Schmidt, B , Smyth, LJ , Canadas-Garre, M , Wang, C , Nakatochi, M , Wong, A , Hutri-Kahonen, N , Wu, Kuan-Han H. , Sim, X , Xia, R , Huerta-Chagoya, A , Fernandez-Lopez, JC , Lyssenko, V , Nongmaithem, SS , Sankareswaran, A , Irvin, MR , Oldmeadow, C , Kim, H-N , Ntalla, Ioanna , Ryu, S , Timmers, PRHJ , Arbeeva, L , Dorajoo, R , Lange, LA , Prasad, G , Lores-Motta, L , Pauper, M , Long, J , Li, X , Hui, Qin , Theusch, E , Takeuchi, F , Spracklen, CN , Loukola, A , Bollepalli, S , Warner, SC , Wang, YX , Wei, WB , Nutile, T , Ruggiero, D , Klarin, Derek , Sung, YJ , Chen, S , Liu, F , Kentistou, KA , Banas, B , Morgan, A , Meidtner, K , Bielak, LF , Smith, JA , Graham, Sarah E. , Hilliard, Austin T. , Hebbar, P , Farmaki, A-E , Hofer, E , Lin, M , Concas, MP , Vaccargiu, S , van der Most, PJ , Pitkanen, N , Cade, BE , van der Laan, SW , Wang, Z , Chitrala, KN , Weiss, S , Bentley, AR , Doumatey, AP , Adeyemo, AA , Lee, JY , Petersen, ERB , Nielsen, AA , Choi, HS , Nethander, M , Xue, C , Freitag-Wolf, S , Southam, L , Rayner, NW , Wang, Carol A. , Lin, S-Y , Wang, J-S , Couture, C , Lyytikainen, L-P , Nikus, K , Cuellar-Partida, G , Thorleifsson, G , Vestergaard, H , Hidalgo, B , Giannakopoulou, O , Cai, Q , Obura, MO , van Setten, J , He, KY , Tang, H , Terzikhan, N , Shin, JH , Helgadottir, A , Jackson, RD , Reiner, AP , Martin, LW , Chen, Z , Li, L , Kawaguchi, T , Thiery, J , Bis, JC , Launer, LJ , Li, H , Gudbjartsson, DF , Nalls, MA , Raitakari, OT , Ichihara, S , Wild, SH , Nelson, CP , Campbell, H , Jager, S , Nabika, T , Al-Mulla, F , Niinikoski, H , Holm, H , Braund, PS , Kolcic, I , Kovacs, P , Giardoglou, T , Katsuya, T , de Kleijn, D , de Borst, GJ , Kim, EK , Adams, HHH , Ikram, MA , Olafsson, I , Zhu, X , Asselbergs, FW , Kraaijeveld, AO , Beulens, JWJ , Shu, X-O , Rallidis, LS , Pedersen, O , Hansen, T , Mitchell, P , Hewitt, AW , Hwang, MY , Kahonen, M , Perusse, L , Bouchard, C , Tonjes, A , Chen, Y-DI , Pennell, CE , Mori, TA , Lieb, W , Franke, A , Ohlsson, C , Han, S , Mellstrom, D , Cho, YS , Lee, H , Yuan, J-M , Koh, W-P , Rhee, SY , Woo, J-T , Heid, IM , Stark, KJ , Zimmermann, ME , Kanoni, Stavroula , Akiyama, M , Volzke, H , Homuth, G , Evans, MK , Zonderman, AB , Polasek, O , Pasterkamp, G , Hoefer, IE , Redline, S , Pahkala, K , Oldehinkel, AJ , Sakaue, S , Snieder, H , Biino, G , Schmidt, R , Schmidt, H , Bandinelli, S , Dedoussis, G , Thanaraj, TA , Peyser, PA , Kato, N , Schulze, MB , Terao, C , Girotto, G , Boger, CA , Jung, B , Joshi, PK , Bennett, DA , De Jager, PL , Lu, X , Mamakou, V , Brown, M , Caulfield, MJ , Kanai, M , Munroe, PB , Guo, X , Ciullo, M , Jonas, JB , Samani, NJ , Kaprio, J , Pajukanta, P , Tusie-Luna, T , Aguilar-Salinas, CA , Adair, LS , Zhou, W , Bechayda, SA , de Silva, HJ , Wickremasinghe, AR , Krauss, RM , Wu, J-Y , Zheng, W , den Hollander, A , Bharadwaj, D , Correa, A , Wilson, JG , Brumpton, BM , Lind, L , Heng, C-K , Nelson, AE , Golightly, YM , Wilson, JF , Penninx, B , Kim, H-L , Attia, John , Scott, RJ , Rao, DC , Rasheed, H , Arnett, DK , Walker, M , Scott, LJ , Koistinen, HA , Chandak, GR , Mercader, JM , Villalpando, CG , Orozco, L , Fornage, M , Tai, ES , Havulinna, AS , van Dam, RM , Lehtimaki, T , Chaturvedi, N , Yokota, M , Reilly, DF , McKnight, AJ , Kee, F , Jockel, K-H , McCarthy, M , Veturi, Y , Palmer, CNA , Vitart, V , Hayward, C , Simonsick, E , van Duijn, CM , Jin, Z-B , Lu, F , Hishigaki, H , Lin, X , Marz, W , Pacheco, JA , Gudnason, V , Tardif, J-C , Lettre, G , Hart, LMT , Elders, PJM , Rader, DJ , Damrauer, SM , Kumari, M , Kivimaki, M , van der Harst, P , Wang, Yuxuan , Rosenthal, EA , Spector, TD , Loos, RJF , Province, MA , Parra, EJ , Cruz, M , Psaty, BM , Brandslund, I , Pramstaller, PP , Rotimi, CN , Christensen, K , Lingren, T , Ripatti, S , Widen, E , Hakonarson, H , Grant, SFA , Kiemeney, L , de Graaf, J , Loeffler, M , Kronenberg, F , Gu, D , Erdmann, J , Feng, Q , Schunkert, H , Franks, PW , Linneberg, A , Jukema, JW , Khera, A , Mannikko, M , Jarvelin, M-R , Kutalik, Z , Francesco, C , Mook-Kanamori, DO , Kullo, IJ , van Dijk, KW , Watkins, H , Strachan, DP , Grarup, N , Sever, P , Poulter, N , Sheu, WH-H , Rotter, J , Dantoft, TM , Karpe, F , Narita, A , Neville, MJ , Timpson, NJ , Cheng, C-Y , Wong, T-Y , Khor, CC , Sabanayagam, C , Peters, A , Gieger, C , Hattersley, AT , Takayama, J , Pedersen, NL , Magnusson, PKE , Boomsma, D , de Geus, EJC , Cupples, LA , van Meurs, JBJ , Ikram, A , Ghanbari, M , Gordon-Larsen, P , Huang, W , Martin, HC , Kim, YJ , Tabara, Y , Wareham, NJ , Langenberg, C , Zeggini, E , Tuomilehto, J , Kuusisto, J , Laakso, M , Ingelsson, E , Abecasis, G , Hunt, KA , Chambers, JC , Kooner, JS , de Vries, PS , Morrison, AC , Hazelhurst, S , Ramsay, M , North, KE , Daviglus, M , Kraft, P , Martin, NG , Trivedi, B , Whitfield, JB , Abbas, S , Saleheen, D , Walters, RG , Holmes, M , Black, C , Smith, BH , Baras, A , Justice, AE , Buring, JE , Haessler, J , Ridker, PM , Chasman, D , Kooperberg, C , Tamiya, G , Yamamoto, M , van Heel, DA , Trembath, RC , Wei, W-Q , Jarvik, GP , Namjou, B , Surakka, Ida , Giulianini, F , Hayes, MG , Ritchie, MD , Jousilahti, P , Salomaa, V , Hveem, K , Asvold, BO , Kubo, M , Kamatani, Y , Okada, Y , Murakami, Y , Bradford, Y , Kim, B-J , Thorsteinsdottir, U , Stefansson, K , Zhang, J , Chen, YE , Ho, Y-L , Lynch, JA , Tsao, PS , Chang, K-M , Cho, K , Miller, JE , O'Donnell, CJ , Gaziano, JM , Wilson, P , Mohlke, KL , Frayling, TM , Hirschhorn, JN , Kathiresan, S , Boehnke, M , Grant, S , Natarajan, P , Campbell, A , Sun, Y , Morris, AP , Deloukas, P , Peloso, G , Assimes, TL , Willer, CJ , Brown, CD , Lin, K , Millwood, IY , Rasheed, A , Hindy, G , Faul, JD , Zhao, W , Wenz, Brandon , Weir, DR , Turman, C , Huang, H , Graff, M , Choudhury, A , Sengupta, D , Mahajan, A , Brown, MR , Zhang, W , Yu, K , Clarke, Shoa L. , Schmidt, EM , Pandit, A , Gustafsson, S , Yin, X , Luan, J , Zhao, J-H , Matsuda, F , Jang, H-M , Yoon, K , Medina-Gomez, C , Chesi, Alessandra , Pitsillides, A , Hottenga, JJ , Wood, AR , Ji, Y , Gao, Z , Haworth, S , Mitchell, RE , Chai, JF , Aadahl, M , Bjerregaard, AA , Wells, Andrew , Yao, J , Manichaikul, A , Lee, W-J , Hsiung, CA , Warren, HR , Ramirez, J , Bork-Jensen, J , Karhus, LL , Goel, A , Sabater-Lleal, M
- Resource Type: journal article
- Date: 2022
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
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
- Creator: Choufani, Sanaa , McNiven, Vanda , Aul, Ritu B. , Castiglioni, Claudia , Breckpot, Jeroen , Devriendt, Koen , Stewart, Helen , Banos-Pinero, Benito , Mehta, Sarju , Sandford, Richard , Dunn, Carolyn , Mathevet, Remi , Cytrynbaum, Cheryl , Dudding-Byth, Tracy , Piard, J , Brischoux-Boucher, E , Vitobello, A , Faivre, L , Bournez, M , Tran-Mau, F , Maystadt, I , Fernandez-Jaen, A , Alvarez, S , Jangjoo, Maryam , Garcia-Prieto, ID , Alkuraya, FS , Alsaif, HS , Rahbeeni, Z , El-Akouri, K , Al-Mureikhi, M , Spillmann, RC , Shashi, V , Sanchez-Lara, PA , Graham, JM , Adam, Margaret P. , Roberts, A , Chorin, O , Evrony, GD , Kraatari-Tiri, M , Dudding-Byth, T , Richardson, A , Hunt, D , Hamilton, L , Dyack, S , Mendelsohn, BA , Bjornsson, Hans T. , Rodriguez, N , Sanchez-Martinez, R , Tenorio-Castano, J , Nevado, J , Lapunzina, P , Tirado, P , Rodrigues, M-TCA , Quteineh, L , Innes, AM , Kline, AD , Harris, Jacqueline , Au, PYB , Weksberg, R , Dyment, David A. , Graham, Gail E. , Nezarati, Marjan M.
- Resource Type: journal article
- Date: 2022
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
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
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