Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: ATM: 538C>T; Gln180Ter
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.
American Journal Of Human Genetics
Palles, Claire C; West, Hannah D HD; Chew, Edward E; Galavotti, Sara S; Flensburg, Christoffer C; Grolleman, Judith E JE; Jansen, Erik A M EAM; Curley, Helen H; Chegwidden, Laura L; Arbe-Barnes, Edward H EH; Lander, Nicola N; Truscott, Rebekah R; Pagan, Judith J; Bajel, Ashish A; Sherwood, Kitty K; Martin, Lynn L; Thomas, Huw H; Georgiou, Demetra D; Fostira, Florentia F; Goldberg, Yael Y; Adams, David J DJ; van der Biezen, Simone A M SAM; Christie, Michael M; Clendenning, Mark M; Thomas, Laura E LE; Deltas, Constantinos C; Dimovski, Aleksandar J AJ; Dymerska, Dagmara D; Lubinski, Jan J; Mahmood, Khalid K; van der Post, Rachel S RS; Sanders, Mathijs M; Weitz, Jürgen J; Taylor, Jenny C JC; Turnbull, Clare C; Vreede, Lilian L; van Wezel, Tom T; Whalley, Celina C; Arnedo-Pac, Claudia C; Caravagna, Giulio G; Cross, William W; Chubb, Daniel D; Frangou, Anna A; Gruber, Andreas J AJ; Kinnersley, Ben B; Noyvert, Boris B; Church, David D; Graham, Trevor T; Houlston, Richard R; Lopez-Bigas, Nuria N; Sottoriva, Andrea A; Wedge, David D; , ; , ; , ; Jenkins, Mark A MA; Kuiper, Roland P RP; Roberts, Andrew W AW; Cheadle, Jeremy P JP; Ligtenberg, Marjolijn J L MJL; Hoogerbrugge, Nicoline N; Koelzer, Viktor H VH; Rivas, Andres Dacal AD; Winship, Ingrid M IM; Ponte, Clara Ruiz CR; Buchanan, Daniel D DD; Power, Derek G DG; Green, Andrew A; Tomlinson, Ian P M IPM; Sampson, Julian R JR; Majewski, Ian J IJ; de Voer, Richarda M RM
Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
European Journal Of Human Genetics : Ejhg
van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
European Journal Of Human Genetics : Ejhg
van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Journal Of Medical Genetics
Platzer, Konrad K; Yuan, Hongjie H; Schütz, Hannah H; Winschel, Alexander A; Chen, Wenjuan W; Hu, Chun C; Kusumoto, Hirofumi H; Heyne, Henrike O HO; Helbig, Katherine L KL; Tang, Sha S; Willing, Marcia C MC; Tinkle, Brad T BT; Adams, Darius J DJ; Depienne, Christel C; Keren, Boris B; Mignot, Cyril C; Frengen, Eirik E; Strømme, Petter P; Biskup, Saskia S; Döcker, Dennis D; Strom, Tim M TM; Mefford, Heather C HC; Myers, Candace T CT; Muir, Alison M AM; LaCroix, Amy A; Sadleir, Lynette L; Scheffer, Ingrid E IE; Brilstra, Eva E; van Haelst, Mieke M MM; van der Smagt, Jasper J JJ; Bok, Levinus A LA; Møller, Rikke S RS; Jensen, Uffe B UB; Millichap, John J JJ; Berg, Anne T AT; Goldberg, Ethan M EM; De Bie, Isabelle I; Fox, Stephanie S; Major, Philippe P; Jones, Julie R JR; Zackai, Elaine H EH; Abou Jamra, Rami R; Rolfs, Arndt A; Leventer, Richard J RJ; Lawson, John A JA; Roscioli, Tony T; Jansen, Floor E FE; Ranza, Emmanuelle E; Korff, Christian M CM; Lehesjoki, Anna-Elina AE; Courage, Carolina C; Linnankivi, Tarja T; Smith, Douglas R DR; Stanley, Christine C; Mintz, Mark M; McKnight, Dianalee D; Decker, Amy A; Tan, Wen-Hann WH; Tarnopolsky, Mark A MA; Brady, Lauren I LI; Wolff, Markus M; Dondit, Lutz L; Pedro, Helio F HF; Parisotto, Sarah E SE; Jones, Kelly L KL; Patel, Anup D AD; Franz, David N DN; Vanzo, Rena R; Marco, Elysa E; Ranells, Judith D JD; Di Donato, Nataliya N; Dobyns, William B WB; Laube, Bodo B; Traynelis, Stephen F SF; Lemke, Johannes R JR
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Susswein, Lisa R LR; Marshall, Megan L ML; Nusbaum, Rachel R; Vogel Postula, Kristen J KJ; Weissman, Scott M SM; Yackowski, Lauren L; Vaccari, Erica M EM; Bissonnette, Jeffrey J; Booker, Jessica K JK; Cremona, M Laura ML; Gibellini, Federica F; Murphy, Patricia D PD; Pineda-Alvarez, Daniel E DE; Pollevick, Guido D GD; Xu, Zhixiong Z; Richard, Gabi G; Bale, Sherri S; Klein, Rachel T RT; Hruska, Kathleen S KS; Chung, Wendy K WK
Publication Date: 2016-08
Variant appearance in text: ATM: 538C>T; Gln180Ter