Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: TG: G954R; rs1022744909
Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.
Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Exome-wide association study of plasma lipids in >300,000 individuals.
Nature Genetics
Liu, Dajiang J DJ; Peloso, Gina M GM; Yu, Haojie H; Butterworth, Adam S AS; Wang, Xiao X; Mahajan, Anubha A; Saleheen, Danish D; Emdin, Connor C; Alam, Dewan D; Alves, Alexessander Couto AC; Amouyel, Philippe P; Di Angelantonio, Emanuele E; Arveiler, Dominique D; Assimes, Themistocles L TL; Auer, Paul L PL; Baber, Usman U; Ballantyne, Christie M CM; Bang, Lia E LE; Benn, Marianne M; Bis, Joshua C JC; Boehnke, Michael M; Boerwinkle, Eric E; Bork-Jensen, Jette J; Bottinger, Erwin P EP; Brandslund, Ivan I; Brown, Morris M; Busonero, Fabio F; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Chen, Y Eugene YE; Chen, Yii-Der Ida YI; Chowdhury, Rajiv R; Christensen, Cramer C; Chu, Audrey Y AY; Connell, John M JM; Cucca, Francesco F; Cupples, L Adrienne LA; Damrauer, Scott M SM; Davies, Gail G; Deary, Ian J IJ; Dedoussis, George G; Denny, Joshua C JC; Dominiczak, Anna A; Dubé, Marie-Pierre MP; Ebeling, Tapani T; Eiriksdottir, Gudny G; Esko, Tõnu T; Farmaki, Aliki-Eleni AE; Feitosa, Mary F MF; Ferrario, Marco M; Ferrieres, Jean J; Ford, Ian I; Fornage, Myriam M; Franks, Paul W PW; Frayling, Timothy M TM; Frikke-Schmidt, Ruth R; Fritsche, Lars G LG; Frossard, Philippe P; Fuster, Valentin V; Ganesh, Santhi K SK; Gao, Wei W; Garcia, Melissa E ME; Gieger, Christian C; Giulianini, Franco F; Goodarzi, Mark O MO; Grallert, Harald H; Grarup, Niels N; Groop, Leif L; Grove, Megan L ML; Gudnason, Vilmundur V; Hansen, Torben T; Harris, Tamara B TB; Hayward, Caroline C; Hirschhorn, Joel N JN; Holmen, Oddgeir L OL; Huffman, Jennifer J; Huo, Yong Y; Hveem, Kristian K; Jabeen, Sehrish S; Jackson, Anne U AU; Jakobsdottir, Johanna J; Jarvelin, Marjo-Riitta MR; Jensen, Gorm B GB; Jørgensen, Marit E ME; Jukema, J Wouter JW; Justesen, Johanne M JM; Kamstrup, Pia R PR; Kanoni, Stavroula S; Karpe, Fredrik F; Kee, Frank F; Khera, Amit V AV; Klarin, Derek D; Koistinen, Heikki A HA; Kooner, Jaspal S JS; Kooperberg, Charles C; Kuulasmaa, Kari K; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo T; Langenberg, Claudia C; Langsted, Anne A; Launer, Lenore J LJ; Lauritzen, Torsten T; Liewald, David C M DCM; Lin, Li An LA; Linneberg, Allan A; Loos, Ruth J F RJF; Lu, Yingchang Y; Lu, Xiangfeng X; Mägi, Reedik R; Malarstig, Anders A; Manichaikul, Ani A; Manning, Alisa K AK; Mäntyselkä, Pekka P; Marouli, Eirini E; Masca, Nicholas G D NGD; Maschio, Andrea A; Meigs, James B JB; Melander, Olle O; Metspalu, Andres A; Morris, Andrew P AP; Morrison, Alanna C AC; Mulas, Antonella A; Müller-Nurasyid, Martina M; Munroe, Patricia B PB; Neville, Matt J MJ; Nielsen, Jonas B JB; Nielsen, Sune F SF; Nordestgaard, Børge G BG; Ordovas, Jose M JM; Mehran, Roxana R; O'Donnell, Christoper J CJ; Orho-Melander, Marju M; Molony, Cliona M CM; Muntendam, Pieter P; Padmanabhan, Sandosh S; Palmer, Colin N A CNA; Pasko, Dorota D; Patel, Aniruddh P AP; Pedersen, Oluf O; Perola, Markus M; Peters, Annette A; Pisinger, Charlotta C; Pistis, Giorgio G; Polasek, Ozren O; Poulter, Neil N; Psaty, Bruce M BM; Rader, Daniel J DJ; Rasheed, Asif A; Rauramaa, Rainer R; Reilly, Dermot F DF; Reiner, Alex P AP; Renström, Frida F; Rich, Stephen S SS; Ridker, Paul M PM; Rioux, John D JD; Robertson, Neil R NR; Roden, Dan M DM; Rotter, Jerome I JI; Rudan, Igor I; Salomaa, Veikko V; Samani, Nilesh J NJ; Sanna, Serena S; Sattar, Naveed N; Schmidt, Ellen M EM; Scott, Robert A RA; Sever, Peter P; Sevilla, Raquel S RS; Shaffer, Christian M CM; Sim, Xueling X; Sivapalaratnam, Suthesh S; Small, Kerrin S KS; Smith, Albert V AV; Smith, Blair H BH; Somayajula, Sangeetha S; Southam, Lorraine L; Spector, Timothy D TD; Speliotes, Elizabeth K EK; Starr, John M JM; Stirrups, Kathleen E KE; Stitziel, Nathan N; Strauch, Konstantin K; Stringham, Heather M HM; Surendran, Praveen P; Tada, Hayato H; Tall, Alan R AR; Tang, Hua H; Tardif, Jean-Claude JC; Taylor, Kent D KD; Trompet, Stella S; Tsao, Philip S PS; Tuomilehto, Jaakko J; Tybjaerg-Hansen, Anne A; van Zuydam, Natalie R NR; Varbo, Anette A; Varga, Tibor V TV; Virtamo, Jarmo J; Waldenberger, Melanie M; Wang, Nan N; Wareham, Nick J NJ; Warren, Helen R HR; Weeke, Peter E PE; Weinstock, Joshua J; Wessel, Jennifer J; Wilson, James G JG; Wilson, Peter W F PWF; Xu, Ming M; Yaghootkar, Hanieh H; Young, Robin R; Zeggini, Eleftheria E; Zhang, He H; Zheng, Neil S NS; Zhang, Weihua W; Zhang, Yan Y; Zhou, Wei W; Zhou, Yanhua Y; Zoledziewska, Magdalena M; , ; , ; , ; , ; , ; Howson, Joanna M M JMM; Danesh, John J; McCarthy, Mark I MI; Cowan, Chad A CA; Abecasis, Goncalo G; Deloukas, Panos P; Musunuru, Kiran K; Willer, Cristen J CJ; Kathiresan, Sekar S