Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.
Nature Communications
Arnadottir, Gudny A GA; Oddsson, Asmundur A; Jensson, Brynjar O BO; Gisladottir, Svanborg S; Simon, Mariella T MT; Arnthorsson, Asgeir O AO; Katrinardottir, Hildigunnur H; Fridriksdottir, Run R; Ivarsdottir, Erna V EV; Jonasdottir, Adalbjorg A; Jonasdottir, Aslaug A; Barrick, Rebekah R; Saemundsdottir, Jona J; le Roux, Louise L; Oskarsson, Gudjon R GR; Asmundsson, Jurate J; Steffensen, Thora T; Gudmundsson, Kjartan R KR; Ludvigsson, Petur P; Jonsson, Jon J JJ; Masson, Gisli G; Jonsdottir, Ingileif I; Holm, Hilma H; Jonasson, Jon G JG; Magnusson, Olafur Th OT; Thorarensen, Olafur O; Abdenur, Jose J; Norddahl, Gudmundur L GL; Gudbjartsson, Daniel F DF; Bjornsson, Hans T HT; Thorsteinsdottir, Unnur U; Sulem, Patrick P; Stefansson, Kari K
Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.
Nature Communications
He, Chen C; Xu, Ke K; Zhu, Xiaoyan X; Dunphy, Paige S PS; Gudenas, Brian B; Lin, Wenwei W; Twarog, Nathaniel N; Hover, Laura D LD; Kwon, Chang-Hyuk CH; Kasper, Lawryn H LH; Zhang, Junyuan J; Li, Xiaoyu X; Dalton, James J; Jonchere, Barbara B; Mercer, Kimberly S KS; Currier, Duane G DG; Caufield, William W; Wang, Yingzhe Y; Xie, Jia J; Broniscer, Alberto A; Wetmore, Cynthia C; Upadhyaya, Santhosh A SA; Qaddoumi, Ibrahim I; Klimo, Paul P; Boop, Frederick F; Gajjar, Amar A; Zhang, Jinghui J; Orr, Brent A BA; Robinson, Giles W GW; Monje, Michelle M; Freeman Iii, Burgess B BB; Roussel, Martine F MF; Northcott, Paul A PA; Chen, Taosheng T; Rankovic, Zoran Z; Wu, Gang G; Chiang, Jason J; Tinkle, Christopher L CL; Shelat, Anang A AA; Baker, Suzanne J SJ
Vanishing white matter: Eukaryotic initiation factor 2B model and the impact of missense mutations.
Molecular Genetics & Genomic Medicine
Slynko, Inna I; Nguyen, Stephanie S; Hamilton, Eline M C EMC; Wisse, Lisanne E LE; de Esch, Iwan J P IJP; de Graaf, Chris C; Bruning, John B JB; Proud, Christopher G CG; Abbink, Truus E M TEM; van der Knaap, Marjo S MS
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
Publication Date: 2020-02-11
Variant appearance in text: EIF2B2: 599G>T; Gly200Val
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: EIF2B2: 599G>T; Gly200Val; rs113994012
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Genome Medicine
Normand, Elizabeth A EA; Braxton, Alicia A; Nassef, Salma S; Ward, Patricia A PA; Vetrini, Francesco F; He, Weimin W; Patel, Vipulkumar V; Qu, Chunjing C; Westerfield, Lauren E LE; Stover, Samantha S; Dharmadhikari, Avinash V AV; Muzny, Donna M DM; Gibbs, Richard A RA; Dai, Hongzheng H; Meng, Linyan L; Wang, Xia X; Xiao, Rui R; Liu, Pengfei P; Bi, Weimin W; Xia, Fan F; Walkiewicz, Magdalena M; Van den Veyver, Ignatia B IB; Eng, Christine M CM; Yang, Yaping Y
Mendelian adult-onset leukodystrophy genes in Alzheimer's disease: critical influence of CSF1R and NOTCH3.
Neurobiology Of Aging
Sassi, Celeste C; Nalls, Michael A MA; Ridge, Perry G PG; Gibbs, Jesse R JR; Lupton, Michelle K MK; Troakes, Claire C; Lunnon, Katie K; Al-Sarraj, Safa S; Brown, Kristelle S KS; Medway, Christopher C; Lord, Jenny J; Turton, James J; Bras, Jose J; , ; Blumenau, Sonja S; Thielke, Mareike M; Josties, Christa C; Freyer, Dorette D; Dietrich, Annette A; Hammer, Monia M; Baier, Michael M; Dirnagl, Ulrich U; Morgan, Kevin K; Powell, John F JF; Kauwe, John S JS; Cruchaga, Carlos C; Goate, Alison M AM; Singleton, Andrew B AB; Guerreiro, Rita R; Hodges, Angela A; Hardy, John J
Publication Date: 2018-06
Variant appearance in text: EIF2B2: G200V; rs113994012
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
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: EIF2B2: 599G>T; G200V; rs113994012