Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX
Publication Date: 2023-01-24
Variant appearance in text: FGB: 794C>T; Pro265Leu
Common and rare variants in patients with early onset drusen maculopathy.
Clinical Genetics
de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI
Publication Date: 2022-11
Variant appearance in text: FGB: 794C>T; Pro265Leu
PTHR1 Genetic Polymorphisms Are Associated with Osteoporosis among Postmenopausal Arab Women.
Biomed Research International
Abdi, Saba S; Almiman, Abeer Abdulaziz AA; Ansari, Mohammed Ghouse Ahmed MGA; Alnaami, Abdullah M AM; Mohammed, Abdul Khader AK; Aljohani, Naji J NJ; Alenad, Amal A; Alghamdi, Amani A; Alokail, Majed S MS; Al-Daghri, Nasser M NM
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Journal Of Thrombosis And Haemostasis : Jth
Megy, Karyn K; Downes, Kate K; Morel-Kopp, Marie-Christine MC; Bastida, José M JM; Brooks, Shannon S; Bury, Loredana L; Leinoe, Eva E; Gomez, Keith K; Morgan, Neil V NV; Othman, Maha M; Ouwehand, Willem H WH; Perez Botero, Juliana J; Rivera, José J; Schulze, Harald H; Trégouët, David-Alexandre DA; Freson, Kathleen K
Publication Date: 2021-10
Variant appearance in text: FGB: 794C>T; Pro265Leu
Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.
Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
Efficient Variant Set Mixed Model Association Tests for Continuous and Binary Traits in Large-Scale Whole-Genome Sequencing Studies.
American Journal Of Human Genetics
Chen, Han H; Huffman, Jennifer E JE; Brody, Jennifer A JA; Wang, Chaolong C; Lee, Seunggeun S; Li, Zilin Z; Gogarten, Stephanie M SM; Sofer, Tamar T; Bielak, Lawrence F LF; Bis, Joshua C JC; Blangero, John J; Bowler, Russell P RP; Cade, Brian E BE; Cho, Michael H MH; Correa, Adolfo A; Curran, Joanne E JE; de Vries, Paul S PS; Glahn, David C DC; Guo, Xiuqing X; Johnson, Andrew D AD; Kardia, Sharon S; Kooperberg, Charles C; Lewis, Joshua P JP; Liu, Xiaoming X; Mathias, Rasika A RA; Mitchell, Braxton D BD; O'Connell, Jeffrey R JR; Peyser, Patricia A PA; Post, Wendy S WS; Reiner, Alex P AP; Rich, Stephen S SS; Rotter, Jerome I JI; Silverman, Edwin K EK; Smith, Jennifer A JA; Vasan, Ramachandran S RS; Wilson, James G JG; Yanek, Lisa R LR; , ; , ; Redline, Susan S; Smith, Nicholas L NL; Boerwinkle, Eric E; Borecki, Ingrid B IB; Cupples, L Adrienne LA; Laurie, Cathy C CC; Morrison, Alanna C AC; Rice, Kenneth M KM; Lin, Xihong X
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
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
PECAN: library-free peptide detection for data-independent acquisition tandem mass spectrometry data.
Nature Methods
Ting, Ying S YS; Egertson, Jarrett D JD; Bollinger, James G JG; Searle, Brian C BC; Payne, Samuel H SH; Noble, William Stafford WS; MacCoss, Michael J MJ
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration.
Human Molecular Genetics
de Vries, Paul S PS; Chasman, Daniel I DI; Sabater-Lleal, Maria M; Chen, Ming-Huei MH; Huffman, Jennifer E JE; Steri, Maristella M; Tang, Weihong W; Teumer, Alexander A; Marioni, Riccardo E RE; Grossmann, Vera V; Hottenga, Jouke J JJ; Trompet, Stella S; Müller-Nurasyid, Martina M; Zhao, Jing Hua JH; Brody, Jennifer A JA; Kleber, Marcus E ME; Guo, Xiuqing X; Wang, Jie Jin JJ; Auer, Paul L PL; Attia, John R JR; Yanek, Lisa R LR; Ahluwalia, Tarunveer S TS; Lahti, Jari J; Venturini, Cristina C; Tanaka, Toshiko T; Bielak, Lawrence F LF; Joshi, Peter K PK; Rocanin-Arjo, Ares A; Kolcic, Ivana I; Navarro, Pau P; Rose, Lynda M LM; Oldmeadow, Christopher C; Riess, Helene H; Mazur, Johanna J; Basu, Saonli S; Goel, Anuj A; Yang, Qiong Q; Ghanbari, Mohsen M; Willemsen, Gonneke G; Rumley, Ann A; Fiorillo, Edoardo E; de Craen, Anton J M AJ; Grotevendt, Anne A; Scott, Robert R; Taylor, Kent D KD; Delgado, Graciela E GE; Yao, Jie J; Kifley, Annette A; Kooperberg, Charles C; Qayyum, Rehan R; Lopez, Lorna M LM; Berentzen, Tina L TL; Räikkönen, Katri K; Mangino, Massimo M; Bandinelli, Stefania S; Peyser, Patricia A PA; Wild, Sarah S; Trégouët, David-Alexandre DA; Wright, Alan F AF; Marten, Jonathan J; Zemunik, Tatijana T; Morrison, Alanna C AC; Sennblad, Bengt B; Tofler, Geoffrey G; de Maat, Moniek P M MP; de Geus, Eco J C EJ; Lowe, Gordon D GD; Zoledziewska, Magdalena M; Sattar, Naveed N; Binder, Harald H; Völker, Uwe U; Waldenberger, Melanie M; Khaw, Kay-Tee KT; Mcknight, Barbara B; Huang, Jie J; Jenny, Nancy S NS; Holliday, Elizabeth G EG; Qi, Lihong L; Mcevoy, Mark G MG; Becker, Diane M DM; Starr, John M JM; Sarin, Antti-Pekka AP; Hysi, Pirro G PG; Hernandez, Dena G DG; Jhun, Min A MA; Campbell, Harry H; Hamsten, Anders A; Rivadeneira, Fernando F; Mcardle, Wendy L WL; Slagboom, P Eline PE; Zeller, Tanja T; Koenig, Wolfgang W; Psaty, Bruce M BM; Haritunians, Talin T; Liu, Jingmin J; Palotie, Aarno A; Uitterlinden, André G AG; Stott, David J DJ; Hofman, Albert A; Franco, Oscar H OH; Polasek, Ozren O; Rudan, Igor I; Morange, Pierre-Emmanuel PE; Wilson, James F JF; Kardia, Sharon L R SL; Ferrucci, Luigi L; Spector, Tim D TD; Eriksson, Johan G JG; Hansen, Torben T; Deary, Ian J IJ; Becker, Lewis C LC; Scott, Rodney J RJ; Mitchell, Paul P; März, Winfried W; Wareham, Nick J NJ; Peters, Annette A; Greinacher, Andreas A; Wild, Philipp S PS; Jukema, J Wouter JW; Boomsma, Dorret I DI; Hayward, Caroline C; Cucca, Francesco F; Tracy, Russell R; Watkins, Hugh H; Reiner, Alex P AP; Folsom, Aaron R AR; Ridker, Paul M PM; O'Donnell, Christopher J CJ; Smith, Nicholas L NL; Strachan, David P DP; Dehghan, Abbas A
Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome.
G3 (Bethesda, Md.)
Merico, Daniele D; Zarrei, Mehdi M; Costain, Gregory G; Ogura, Lucas L; Alipanahi, Babak B; Gazzellone, Matthew J MJ; Butcher, Nancy J NJ; Thiruvahindrapuram, Bhooma B; Nalpathamkalam, Thomas T; Chow, Eva W C EW; Andrade, Danielle M DM; Frey, Brendan J BJ; Marshall, Christian R CR; Scherer, Stephen W SW; Bassett, Anne S AS
Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF.
Blood
Huffman, Jennifer E JE; de Vries, Paul S PS; Morrison, Alanna C AC; Sabater-Lleal, Maria M; Kacprowski, Tim T; Auer, Paul L PL; Brody, Jennifer A JA; Chasman, Daniel I DI; Chen, Ming-Huei MH; Guo, Xiuqing X; Lin, Li-An LA; Marioni, Riccardo E RE; Müller-Nurasyid, Martina M; Yanek, Lisa R LR; Pankratz, Nathan N; Grove, Megan L ML; de Maat, Moniek P M MP; Cushman, Mary M; Wiggins, Kerri L KL; Qi, Lihong L; Sennblad, Bengt B; Harris, Sarah E SE; Polasek, Ozren O; Riess, Helene H; Rivadeneira, Fernando F; Rose, Lynda M LM; Goel, Anuj A; Taylor, Kent D KD; Teumer, Alexander A; Uitterlinden, André G AG; Vaidya, Dhananjay D; Yao, Jie J; Tang, Weihong W; Levy, Daniel D; Waldenberger, Melanie M; Becker, Diane M DM; Folsom, Aaron R AR; Giulianini, Franco F; Greinacher, Andreas A; Hofman, Albert A; Huang, Chiang-Ching CC; Kooperberg, Charles C; Silveira, Angela A; Starr, John M JM; Strauch, Konstantin K; Strawbridge, Rona J RJ; Wright, Alan F AF; McKnight, Barbara B; Franco, Oscar H OH; Zakai, Neil N; Mathias, Rasika A RA; Psaty, Bruce M BM; Ridker, Paul M PM; Tofler, Geoffrey H GH; Völker, Uwe U; Watkins, Hugh H; Fornage, Myriam M; Hamsten, Anders A; Deary, Ian J IJ; Boerwinkle, Eric E; Koenig, Wolfgang W; Rotter, Jerome I JI; Hayward, Caroline C; Dehghan, Abbas A; Reiner, Alex P AP; O'Donnell, Christopher J CJ; Smith, Nicholas L NL
Association of genomic loci from a cardiovascular gene SNP array with fibrinogen levels in European Americans and African-Americans from six cohort studies: the Candidate Gene Association Resource (CARe).
Blood
Wassel, Christina L CL; Lange, Leslie A LA; Keating, Brendan J BJ; Taylor, Kira C KC; Johnson, Andrew D AD; Palmer, Cameron C; Ho, Lindsey A LA; Smith, Nicholas L NL; Lange, Ethan M EM; Li, Yun Y; Yang, Qiong Q; Delaney, Joseph A JA; Tang, Weihong W; Tofler, Geoffrey G; Redline, Susan S; Taylor, Herman A HA; Wilson, James G JG; Tracy, Russell P RP; Jacobs, David R DR; Folsom, Aaron R AR; Green, David D; O'Donnell, Christopher J CJ; Reiner, Alexander P AP
Publication Date: 2011-01-06
Variant appearance in text: FGB: Pro265Leu; rs6054
High prevalence of dysfibrinogenemia among patients with chronic thromboembolic pulmonary hypertension.
Blood
Morris, Timothy A TA; Marsh, James J JJ; Chiles, Peter G PG; Magaña, Marisa M MM; Liang, Ni-Cheng NC; Soler, Xavier X; Desantis, Daniel J DJ; Ngo, Debby D; Woods, Virgil L VL