Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
Cancers
Ognibene, Marzia M; Scala, Marcello M; Iacomino, Michele M; Schiavetti, Irene I; Madia, Francesca F; Traverso, Monica M; Guerrisi, Sara S; Di Duca, Marco M; Caroli, Francesco F; Baldassari, Simona S; Tappino, Barbara B; Romano, Ferruccio F; Uva, Paolo P; Vozzi, Diego D; Chelleri, Cristina C; Piatelli, Gianluca G; Diana, Maria Cristina MC; Zara, Federico F; Capra, Valeria V; Pavanello, Marco M; De Marco, Patrizia P
Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.
Nature Medicine
Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW
Histone H3-wild type diffuse midline gliomas with H3K27me3 loss are a distinct entity with exclusive EGFR or ACVR1 mutation and differential methylation of homeobox genes.
Scientific Reports
Ajuyah, Pamela P; Mayoh, Chelsea C; Lau, Loretta M S LMS; Barahona, Paulette P; Wong, Marie M; Chambers, Hazel H; Valdes-Mora, Fatima F; Senapati, Akanksha A; Gifford, Andrew J AJ; D'Arcy, Colleen C; Hansford, Jordan R JR; Manoharan, Neevika N; Nicholls, Wayne W; Williams, Molly M MM; Wood, Paul J PJ; Cowley, Mark J MJ; Tyrrell, Vanessa V; Haber, Michelle M; Ekert, Paul G PG; Ziegler, David S DS; Khuong-Quang, Dong-Anh DA
Publication Date: 2023-03-07
Variant appearance in text: NF1: 574C>T; Arg192Ter
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
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: NF1: 574C>T; Arg192Ter
Genomic patterns of malignant peripheral nerve sheath tumor (MPNST) evolution correlate with clinical outcome and are detectable in cell-free DNA.
Cancer Discovery
Cortes-Ciriano, Isidro I; Steele, Christopher D CD; Piculell, Katherine K; Al-Ibraheemi, Alyaa A; Eulo, Vanessa V; Bui, Marilyn M MM; Chatzipli, Aikaterini A; Dickson, Brendan C BC; Borcherding, Dana C DC; Feber, Andrew A; Galor, Alon A; Hart, Jesse J; Jones, Kevin B KB; Jordan, Justin T JT; Kim, Raymond H RH; Lindsay, Daniel D; Miller, Colin C; Nishida, Yoshihiro Y; Proszek, Paula Z PZ; Serrano, Jonathan J; Sundby, R Taylor RT; Szymanski, Jeffrey J JJ; Ullrich, Nicole J NJ; Viskochil, David D; Wang, Xia X; Snuderl, Matija M; Park, Peter J PJ; Flanagan, Adrienne M AM; Hirbe, Angela C AC; Pillay, Nischalan N; Miller, David T DT
The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.
Nature Cancer
Villani, Anita A; Davidson, Scott S; Kanwar, Nisha N; Lo, Winnie W WW; Li, Yisu Y; Cohen-Gogo, Sarah S; Fuligni, Fabio F; Edward, Lisa-Monique LM; Light, Nicholas N; Layeghifard, Mehdi M; Harripaul, Ricardo R; Waldman, Larissa L; Gallinger, Bailey B; Comitani, Federico F; Brunga, Ledia L; Hayes, Reid R; Anderson, Nathaniel D ND; Ramani, Arun K AK; Yuki, Kyoko E KE; Blay, Sasha S; Johnstone, Brittney B; Inglese, Cara C; Hammad, Rawan R; Goudie, Catherine C; Shuen, Andrew A; Wasserman, Jonathan D JD; Venier, Rosemarie E RE; Eliou, Marianne M; Lorenti, Miranda M; Ryan, Carol Ann CA; Braga, Michael M; Gloven-Brown, Meagan M; Han, Jianan J; Montero, Maria M; Spatare, Famida F; Whitlock, James A JA; Scherer, Stephen W SW; Chun, Kathy K; Somerville, Martin J MJ; Hawkins, Cynthia C; Abdelhaleem, Mohamed M; Ramaswamy, Vijay V; Somers, Gino R GR; Kyriakopoulou, Lianna L; Hitzler, Johann J; Shago, Mary M; Morgenstern, Daniel A DA; Tabori, Uri U; Meyn, Stephen S; Irwin, Meredith S MS; Malkin, David D; Shlien, Adam A
bMSAF is a prognostic predictor for advanced hepatocellular carcinoma patients treated with immune checkpoint inhibitor camrelizumab and anti-angiogenic agent apatinib combination therapy.
Pharmacogenomic Profiling of Pediatric Acute Myeloid Leukemia to Identify Therapeutic Vulnerabilities and Inform Functional Precision Medicine.
Blood Cancer Discovery
Wang, Han H; Chan, Kathy Yuen Yee KYY; Cheng, Chi Keung CK; Ng, Margaret H L MHL; Lee, Po Yi PY; Cheng, Frankie Wai Tsoi FWT; Lam, Grace Kee See GKS; Chow, Tin Wai TW; Ha, Shau Yin SY; Chiang, Alan K S AKS; Leung, Wing Hang WH; Leung, Anskar Y H AYH; Wang, Chi Chiu CC; Zhang, Tao T; Zhang, Xiao-Bing XB; So, Chi Chiu CC; Yuen, Yuet Ping YP; Sun, Qiwei Q; Zhang, Chi C; Xu, Yaqun Y; Cheung, John Tak Kit JTK; Ng, Wing Hei WH; Tang, Patrick Ming-Kuen PM; Kang, Wei W; To, Ka-Fai KF; Lee, Wayne Yuk Wai WYW; Wong, Raymond S M RSM; Poon, Ellen Ngar Yun ENY; Zhao, Qi Q; Huang, Junbin J; Chen, Chun C; Yuen, Patrick Man Pan PMP; Li, Chi-Kong CK; Leung, Alex Wing Kwan AWK; Leung, Kam Tong KT
Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.
Acta Neuropathologica
Lucas, Calixto-Hope G CG; Sloan, Emily A EA; Gupta, Rohit R; Wu, Jasper J; Pratt, Drew D; Vasudevan, Harish N HN; Ravindranathan, Ajay A; Barreto, Jairo J; Williams, Erik A EA; Shai, Anny A; Whipple, Nicholas S NS; Bruggers, Carol S CS; Maher, Ossama O; Nabors, Burt B; Rodriguez, Michael M; Samuel, David D; Brown, Melandee M; Carmichael, Jason J; Lu, Rufei R; Mirchia, Kanish K; Sullivan, Daniel V DV; Pekmezci, Melike M; Tihan, Tarik T; Bollen, Andrew W AW; Perry, Arie A; Banerjee, Anuradha A; Mueller, Sabine S; Gupta, Nalin N; Hervey-Jumper, Shawn L SL; Oberheim Bush, Nancy Ann NA; Daras, Mariza M; Taylor, Jennie W JW; Butowski, Nicholas A NA; de Groot, John J; Clarke, Jennifer L JL; Raleigh, David R DR; Costello, Joseph F JF; Phillips, Joanna J JJ; Reddy, Alyssa T AT; Chang, Susan M SM; Berger, Mitchel S MS; Solomon, David A DA
Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Landscape of driver gene events, biomarkers, and druggable targets identified by whole-genome sequencing of glioblastomas.
Neuro-Oncology Advances
van de Geer, Wesley S WS; Hoogstrate, Youri Y; Draaisma, Kaspar K; Robe, Pierre A PA; Bins, Sander S; Mathijssen, Ron H J RHJ; French, Pim P; van de Werken, Harmen J G HJG; de Vos, Filip Y F FYF
Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.
Therapeutic Advances In Medical Oncology
Scheipl, Susanne S; Brcic, Iva I; Moser, Tina T; Fischerauer, Stefan S; Riedl, Jakob J; Bergovec, Marko M; Smolle, Maria M; Posch, Florian F; Gerger, Armin A; Pichler, Martin M; Stoeger, Herbert H; Leithner, Andreas A; Heitzer, Ellen E; Liegl-Atzwanger, Bernadette B; Szkandera, Joanna J
Clinical, radiologic, and genetic characteristics of histone H3 K27M-mutant diffuse midline gliomas in adults.
Neuro-Oncology Advances
Schulte, Jessica D JD; Buerki, Robin A RA; Lapointe, Sarah S; Molinaro, Annette M AM; Zhang, Yalan Y; Villanueva-Meyer, Javier E JE; Perry, Arie A; Phillips, Joanna J JJ; Tihan, Tarik T; Bollen, Andrew W AW; Pekmezci, Melike M; Butowski, Nicholas N; Oberheim Bush, Nancy Ann NA; Taylor, Jennie W JW; Chang, Susan M SM; Theodosopoulos, Philip P; Aghi, Manish K MK; Hervey-Jumper, Shawn L SL; Berger, Mitchel S MS; Solomon, David A DA; Clarke, Jennifer L JL
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.
Jco Precision Oncology
MacFarland, Suzanne P SP; Zelley, Kristin K; Surrey, Lea F LF; Gallo, Daniel D; Luo, Minjie M; Raman, Pichai P; Wertheim, Gerald G; Hunger, Stephen P SP; Li, Marilyn M MM; Brodeur, Garrett M GM
A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.
Breast Cancer Research : Bcr
Kang, Taekyu T; Yau, Christina C; Wong, Christopher K CK; Sanborn, John Z JZ; Newton, Yulia Y; Vaske, Charlie C; Benz, Stephen C SC; Krings, Gregor G; Camarda, Roman R; Henry, Jill E JE; Stuart, Josh J; Powell, Mark M; Benz, Christopher C CC
H3K27me3 expression and methylation status in histological variants of malignant peripheral nerve sheath tumours.
The Journal Of Pathology
Lyskjaer, Iben I; Lindsay, Daniel D; Tirabosco, Roberto R; Steele, Christopher D CD; Lombard, Patrick P; Strobl, Anna-Christina AC; Rocha, Ana M AM; Davies, Christopher C; Ye, Hongtao H; Bekers, Elise E; Ingruber, Julia J; Lechner, Matt M; Amary, Fernanda F; Pillay, Nischalan N; Flanagan, Adrienne M AM
mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Phase and context shape the function of composite oncogenic mutations.
Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.
Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Human Mutation
Koczkowska, Magdalena M; Callens, Tom T; Chen, Yunjia Y; Gomes, Alicia A; Hicks, Alesha D AD; Sharp, Angela A; Johns, Eric E; Uhas, Kim Armfield KA; Armstrong, Linlea L; Bosanko, Katherine Armstrong KA; Babovic-Vuksanovic, Dusica D; Baker, Laura L; Basel, Donald G DG; Bengala, Mario M; Bennett, James T JT; Chambers, Chelsea C; Clarkson, Lola K LK; Clementi, Maurizio M; Cortés, Fanny M FM; Cunningham, Mitch M; D'Agostino, M Daniela MD; Delatycki, Martin B MB; Digilio, Maria C MC; Dosa, Laura L; Esposito, Silvia S; Fox, Stephanie S; Freckmann, Mary-Louise ML; Fauth, Christine C; Giugliano, Teresa T; Giustini, Sandra S; Goetsch, Allison A; Goldberg, Yael Y; Greenwood, Robert S RS; Griffis, Cristin C; Gripp, Karen W KW; Gupta, Punita P; Haan, Eric E; Hachen, Rachel K RK; Haygarth, Tamara L TL; Hernández-Chico, Concepción C; Hodge, Katelyn K; Hopkin, Robert J RJ; Hudgins, Louanne L; Janssens, Sandra S; Keller, Kory K; Kelly-Mancuso, Geraldine G; Kochhar, Aaina A; Korf, Bruce R BR; Lewis, Andrea M AM; Liebelt, Jan J; Lichty, Angie A; Listernick, Robert H RH; Lyons, Michael J MJ; Maystadt, Isabelle I; Martinez Ojeda, Mayra M; McDougall, Carey C; McGregor, Lesley K LK; Melis, Daniela D; Mendelsohn, Nancy N; Nowaczyk, Malgorzata J M MJM; Ortenberg, June J; Panzer, Karin K; Pappas, John G JG; Pierpont, Mary Ella ME; Piluso, Giulio G; Pinna, Valentina V; Pivnick, Eniko K EK; Pond, Dinel A DA; Powell, Cynthia M CM; Rogers, Caleb C; Ruhrman Shahar, Noa N; Rutledge, S Lane SL; Saletti, Veronica V; Sandaradura, Sarah A SA; Santoro, Claudia C; Schatz, Ulrich A UA; Schreiber, Allison A; Scott, Daryl A DA; Sellars, Elizabeth A EA; Sheffer, Ruth R; Siqveland, Elizabeth E; Slopis, John M JM; Smith, Rosemarie R; Spalice, Alberto A; Stockton, David W DW; Streff, Haley H; Theos, Amy A; Tomlinson, Gail E GE; Tran, Grace G; Trapane, Pamela L PL; Trevisson, Eva E; Ullrich, Nicole J NJ; Van den Ende, Jenneke J; Schrier Vergano, Samantha A SA; Wallace, Stephanie E SE; Wangler, Michael F MF; Weaver, David D DD; Yohay, Kaleb H KH; Zackai, Elaine E; Zonana, Jonathan J; Zurcher, Vickie V; Claes, Kathleen B M KBM; Eoli, Marica M; Martin, Yolanda Y; Wimmer, Katharina K; De Luca, Alessandro A; Legius, Eric E; Messiaen, Ludwine M LM
Primary intracranial sarcomas with DICER1 mutation often contain prominent eosinophilic cytoplasmic globules and can occur in the setting of neurofibromatosis type 1.
Acta Neuropathologica
Lee, Julieann C JC; Villanueva-Meyer, Javier E JE; Ferris, Sean P SP; Sloan, Emily A EA; Hofmann, Jeffrey W JW; Hattab, Eyas M EM; Williams, Brian J BJ; Guo, Hua H; Torkildson, Joseph J; Florez, Adriana A; Van Ziffle, Jessica J; Onodera, Courtney C; Grenert, James P JP; Cho, Soo-Jin SJ; Horvai, Andrew E AE; Jones, David T W DTW; Pfister, Stefan M SM; Koelsche, Christian C; von Deimling, Andreas A; Korshunov, Andrey A; Perry, Arie A; Solomon, David A DA
Functional genomic landscape of acute myeloid leukaemia.
Nature
Tyner, Jeffrey W JW; Tognon, Cristina E CE; Bottomly, Daniel D; Wilmot, Beth B; Kurtz, Stephen E SE; Savage, Samantha L SL; Long, Nicola N; Schultz, Anna Reister AR; Traer, Elie E; Abel, Melissa M; Agarwal, Anupriya A; Blucher, Aurora A; Borate, Uma U; Bryant, Jade J; Burke, Russell R; Carlos, Amy A; Carpenter, Richie R; Carroll, Joseph J; Chang, Bill H BH; Coblentz, Cody C; d'Almeida, Amanda A; Cook, Rachel R; Danilov, Alexey A; Dao, Kim-Hien T KT; Degnin, Michie M; Devine, Deirdre D; Dibb, James J; Edwards, David K DK; Eide, Christopher A CA; English, Isabel I; Glover, Jason J; Henson, Rachel R; Ho, Hibery H; Jemal, Abdusebur A; Johnson, Kara K; Johnson, Ryan R; Junio, Brian B; Kaempf, Andy A; Leonard, Jessica J; Lin, Chenwei C; Liu, Selina Qiuying SQ; Lo, Pierrette P; Loriaux, Marc M MM; Luty, Samuel S; Macey, Tara T; MacManiman, Jason J; Martinez, Jacqueline J; Mori, Motomi M; Nelson, Dylan D; Nichols, Ceilidh C; Peters, Jill J; Ramsdill, Justin J; Rofelty, Angela A; Schuff, Robert R; Searles, Robert R; Segerdell, Erik E; Smith, Rebecca L RL; Spurgeon, Stephen E SE; Sweeney, Tyler T; Thapa, Aashis A; Visser, Corinne C; Wagner, Jake J; Watanabe-Smith, Kevin K; Werth, Kristen K; Wolf, Joelle J; White, Libbey L; Yates, Amy A; Zhang, Haijiao H; Cogle, Christopher R CR; Collins, Robert H RH; Connolly, Denise C DC; Deininger, Michael W MW; Drusbosky, Leylah L; Hourigan, Christopher S CS; Jordan, Craig T CT; Kropf, Patricia P; Lin, Tara L TL; Martinez, Micaela E ME; Medeiros, Bruno C BC; Pallapati, Rachel R RR; Pollyea, Daniel A DA; Swords, Ronan T RT; Watts, Justin M JM; Weir, Scott J SJ; Wiest, David L DL; Winters, Ryan M RM; McWeeney, Shannon K SK; Druker, Brian J BJ
Publication Date: 2018-10
Variant appearance in text: NF1: 574C>T; R192*; rs397514641
An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.
Scientific Reports
Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U
Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.
Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
Transposon mutagenesis identifies chromatin modifiers cooperating with Ras in thyroid tumorigenesis and detects ATXN7 as a cancer gene.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Montero-Conde, Cristina C; Leandro-Garcia, Luis J LJ; Chen, Xu X; Oler, Gisele G; Ruiz-Llorente, Sergio S; Ryder, Mabel M; Landa, Iñigo I; Sanchez-Vega, Francisco F; La, Konnor K; Ghossein, Ronald A RA; Bajorin, Dean F DF; Knauf, Jeffrey A JA; Riordan, Jesse D JD; Dupuy, Adam J AJ; Fagin, James A JA
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.
Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
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
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.
Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Spatial and temporal homogeneity of driver mutations in diffuse intrinsic pontine glioma.
Nature Communications
Nikbakht, Hamid H; Panditharatna, Eshini E; Mikael, Leonie G LG; Li, Rui R; Gayden, Tenzin T; Osmond, Matthew M; Ho, Cheng-Ying CY; Kambhampati, Madhuri M; Hwang, Eugene I EI; Faury, Damien D; Siu, Alan A; Papillon-Cavanagh, Simon S; Bechet, Denise D; Ligon, Keith L KL; Ellezam, Benjamin B; Ingram, Wendy J WJ; Stinson, Caedyn C; Moore, Andrew S AS; Warren, Katherine E KE; Karamchandani, Jason J; Packer, Roger J RJ; Jabado, Nada N; Majewski, Jacek J; Nazarian, Javad J
Age-related mutations associated with clonal hematopoietic expansion and malignancies.
Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Recurrent activating ACVR1 mutations in diffuse intrinsic pontine glioma.
Nature Genetics
Taylor, Kathryn R KR; Mackay, Alan A; Truffaux, Nathalène N; Butterfield, Yaron Y; Morozova, Olena O; Philippe, Cathy C; Castel, David D; Grasso, Catherine S CS; Vinci, Maria M; Carvalho, Diana D; Carcaboso, Angel M AM; de Torres, Carmen C; Cruz, Ofelia O; Mora, Jaume J; Entz-Werle, Natacha N; Ingram, Wendy J WJ; Monje, Michelle M; Hargrave, Darren D; Bullock, Alex N AN; Puget, Stéphanie S; Yip, Stephen S; Jones, Chris C; Grill, Jacques J