Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: ANG: K41I; rs121909536
Whole exome sequencing and DNA methylation analysis in a clinical amyotrophic lateral sclerosis cohort.
Molecular Genetics & Genomic Medicine
Garton, Fleur C FC; Benyamin, Beben B; Zhao, Qiongyi Q; Liu, Zhijun Z; Gratten, Jacob J; Henders, Anjali K AK; Zhang, Zong-Hong ZH; Edson, Janette J; Furlong, Sarah S; Morgan, Sarah S; Heggie, Susan S; Thorpe, Kathryn K; Pfluger, Casey C; Mather, Karen A KA; Sachdev, Perminder S PS; McRae, Allan F AF; Robinson, Matthew R MR; Shah, Sonia S; Visscher, Peter M PM; Mangelsdorf, Marie M; Henderson, Robert D RD; Wray, Naomi R NR; McCombe, Pamela A PA
Publication Date: 2017-07
Variant appearance in text: ANG: 122A>T; Lys41Ile; rs121909536
A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.
Brain : A Journal Of Neurology
Morgan, Sarah S; Shatunov, Aleksey A; Sproviero, William W; Jones, Ashley R AR; Shoai, Maryam M; Hughes, Deborah D; Al Khleifat, Ahmad A; Malaspina, Andrea A; Morrison, Karen E KE; Shaw, Pamela J PJ; Shaw, Christopher E CE; Sidle, Katie K; Orrell, Richard W RW; Fratta, Pietro P; Hardy, John J; Pittman, Alan A; Al-Chalabi, Ammar A
Publication Date: 2017-06-01
Variant appearance in text: ANG: K41I; rs121909536
Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.
Genome Research
Keogh, Michael J MJ; Wei, Wei W; Wilson, Ian I; Coxhead, Jon J; Ryan, Sarah S; Rollinson, Sara S; Griffin, Helen H; Kurzawa-Akanbi, Marzena M; Santibanez-Koref, Mauro M; Talbot, Kevin K; Turner, Martin R MR; McKenzie, Chris-Anne CA; Troakes, Claire C; Attems, Johannes J; Smith, Colin C; Al Sarraj, Safa S; Morris, Chris M CM; Ansorge, Olaf O; Pickering-Brown, Stuart S; Ironside, James W JW; Chinnery, Patrick F PF
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: ANG: 122A>T; K41I; rs121909536
Proteogenomics connects somatic mutations to signalling in breast cancer.
Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyƶ, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Publication Date: 2016-06-02
Variant appearance in text: ANG: K41I; rs121909536
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Amyotrophic lateral sclerosis onset is influenced by the burden of rare variants in known amyotrophic lateral sclerosis genes.
Annals Of Neurology
Cady, Janet J; Allred, Peggy P; Bali, Taha T; Pestronk, Alan A; Goate, Alison A; Miller, Timothy M TM; Mitra, Robi D RD; Ravits, John J; Harms, Matthew B MB; Baloh, Robert H RH
Publication Date: 2015-01
Variant appearance in text: ANG: 122A>T; K41I; rs121909536
Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene.
Molecular Neurodegeneration
van Blitterswijk, Marka M; Mullen, Bianca B; Wojtas, Aleksandra A; Heckman, Michael G MG; Diehl, Nancy N NN; Baker, Matthew C MC; DeJesus-Hernandez, Mariely M; Brown, Patricia H PH; Murray, Melissa E ME; Hsiung, Ging-Yuek R GY; Stewart, Heather H; Karydas, Anna M AM; Finger, Elizabeth E; Kertesz, Andrew A; Bigio, Eileen H EH; Weintraub, Sandra S; Mesulam, Marsel M; Hatanpaa, Kimmo J KJ; White, Charles L CL; Neumann, Manuela M; Strong, Michael J MJ; Beach, Thomas G TG; Wszolek, Zbigniew K ZK; Lippa, Carol C; Caselli, Richard R; Petrucelli, Leonard L; Josephs, Keith A KA; Parisi, Joseph E JE; Knopman, David S DS; Petersen, Ronald C RC; Mackenzie, Ian R IR; Seeley, William W WW; Grinberg, Lea T LT; Miller, Bruce L BL; Boylan, Kevin B KB; Graff-Radford, Neill R NR; Boeve, Bradley F BF; Dickson, Dennis W DW; Rademakers, Rosa R
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03
Variant appearance in text: ANG: 122A>T; K41I; rs121909536
How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?
Current Opinion In Neurology
van Blitterswijk, Marka M; DeJesus-Hernandez, Mariely M; Rademakers, Rosa R
Genetic overlap between apparently sporadic motor neuron diseases.
Plos One
van Blitterswijk, Marka M; Vlam, Lotte L; van Es, Michael A MA; van der Pol, W-Ludo WL; Hennekam, Eric A M EA; Dooijes, Dennis D; Schelhaas, Helenius J HJ; van der Kooi, Anneke J AJ; de Visser, Marianne M; Veldink, Jan H JH; van den Berg, Leonard H LH