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: KMT2C: 4441C>T; Arg1481Ter
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.
Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09
Variant appearance in text: KMT2C: 4441C>T; R1481*
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
De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.
Pediatric Reports
Siano, Maria Anna MA; De Maggio, Ilaria I; Petillo, Roberta R; Cocciadiferro, Dario D; Agolini, Emanuele E; Majolo, Massimo M; Novelli, Antonio A; Della Monica, Matteo M; Piscopo, Carmelo C
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
Melanoma with in-frame deletion of MAP2K1: a distinct molecular subtype of cutaneous melanoma mutually exclusive from BRAF, NRAS, and NF1 mutations.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Williams, Erik A EA; Montesion, Meagan M; Shah, Nikunj N; Sharaf, Radwa R; Pavlick, Dean C DC; Sokol, Ethan S ES; Alexander, Brian B; Venstrom, Jeff J; Elvin, Julia A JA; Ross, Jeffrey S JS; Williams, Kevin Jon KJ; Tse, Julie Y JY; Mochel, Mark C MC
Pan-cancer whole-genome analyses of metastatic solid tumours.
Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.
Plos Genetics
Koemans, Tom S TS; Kleefstra, Tjitske T; Chubak, Melissa C MC; Stone, Max H MH; Reijnders, Margot R F MRF; de Munnik, Sonja S; Willemsen, Marjolein H MH; Fenckova, Michaela M; Stumpel, Connie T R M CTRM; Bok, Levinus A LA; Sifuentes Saenz, Margarita M; Byerly, Kyna A KA; Baughn, Linda B LB; Stegmann, Alexander P A APA; Pfundt, Rolph R; Zhou, Huiqing H; van Bokhoven, Hans H; Schenck, Annette A; Kramer, Jamie M JM
Publication Date: 2017-10
Variant appearance in text: KMT2C: 4441C>T; Arg1481*
Impact of mutational profiles on response of primary oestrogen receptor-positive breast cancers to oestrogen deprivation.
Nature Communications
Gellert, Pascal P; Segal, Corrinne V CV; Gao, Qiong Q; López-Knowles, Elena E; Martin, Lesley-Ann LA; Dodson, Andrew A; Li, Tiandao T; Miller, Christopher A CA; Lu, Charles C; Mardis, Elaine R ER; Gillman, Alexa A; Morden, James J; Graf, Manuela M; Sidhu, Kally K; Evans, Abigail A; Shere, Michael M; Holcombe, Christopher C; McIntosh, Stuart A SA; Bundred, Nigel N; Skene, Anthony A; Maxwell, William W; Robertson, John J; Bliss, Judith M JM; Smith, Ian I; Dowsett, Mitch M; ,
Longitudinal copy number, whole exome and targeted deep sequencing of 'good risk' IGHV-mutated CLL patients with progressive disease.
Leukemia
Rose-Zerilli, M J J MJ; Gibson, J J; Wang, J J; Tapper, W W; Davis, Z Z; Parker, H H; Larrayoz, M M; McCarthy, H H; Walewska, R R; Forster, J J; Gardiner, A A; Steele, A J AJ; Chelala, C C; Ennis, S S; Collins, A A; Oakes, C C CC; Oscier, D G DG; Strefford, J C JC
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
American Journal Of Human Genetics
Kleefstra, Tjitske T; Kramer, Jamie M JM; Neveling, Kornelia K; Willemsen, Marjolein H MH; Koemans, Tom S TS; Vissers, Lisenka E L M LE; Wissink-Lindhout, Willemijn W; Fenckova, Michaela M; van den Akker, Willem M R WM; Kasri, Nael Nadif NN; Nillesen, Willy M WM; Prescott, Trine T; Clark, Robin D RD; Devriendt, Koenraad K; van Reeuwijk, Jeroen J; de Brouwer, Arjan P M AP; Gilissen, Christian C; Zhou, Huiqing H; Brunner, Han G HG; Veltman, Joris A JA; Schenck, Annette A; van Bokhoven, Hans H