Publications:

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Mutational landscape of high-grade B-cell lymphoma with MYC-, BCL2 and/or BCL6 rearrangements characterized by whole-exome sequencing.

Haematologica

Künstner, Axel A; Witte, Hanno M HM; Riedl, Jörg J; Bernard, Veronica V; Stölting, Stephanie S; Merz, Hartmut H; Olschewski, Vito V; Peter, Wolfgang W; Ketzer, Julius J; Busch, Yannik Y; Trojok, Peter P; Bubnoff, Nikolas von NV; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N

Publication Date: 2022-08-01

Variant appearance in text: KMT2D: Q3812X

PubMed Link: 34788985

Variant Present in the following documents:

• 2021_279631_KUNSTNER_TABS5_SUPPL.xlsx, sheet 1

View BVdb publication page

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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

Publication Date: 2020-06

Variant appearance in text: KMT2D: Q3812*

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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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

Publication Date: 2019-11

Variant appearance in text: KMT2D: Gln3812*

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Human Molecular Genetics

Cocciadiferro, Dario D; Augello, Bartolomeo B; De Nittis, Pasquelena P; Zhang, Jiyuan J; Mandriani, Barbara B; Malerba, Natascia N; Squeo, Gabriella M GM; Romano, Alessandro A; Piccinni, Barbara B; Verri, Tiziano T; Micale, Lucia L; Pasqualucci, Laura L; Merla, Giuseppe G

Publication Date: 2018-11-01

Variant appearance in text: KMT2D: 11434C>T; Gln3812*

PubMed Link: 30107592

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: KMT2D: 11434C>T; Q3812*

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s003.xlsx, sheet 1

View BVdb publication page

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Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

Human Mutation

Micale, Lucia L; Augello, Bartolomeo B; Maffeo, Claudia C; Selicorni, Angelo A; Zucchetti, Federica F; Fusco, Carmela C; De Nittis, Pasquelena P; Pellico, Maria Teresa MT; Mandriani, Barbara B; Fischetto, Rita R; Boccone, Loredana L; Silengo, Margherita M; Biamino, Elisa E; Perria, Chiara C; Sotgiu, Stefano S; Serra, Gigliola G; Lapi, Elisabetta E; Neri, Marcella M; Ferlini, Alessandra A; Cavaliere, Maria Luigia ML; Chiurazzi, Pietro P; Monica, Matteo Della MD; Scarano, Gioacchino G; Faravelli, Francesca F; Ferrari, Paola P; Mazzanti, Laura L; Pilotta, Alba A; Patricelli, Maria Grazia MG; Bedeschi, Maria Francesca MF; Benedicenti, Francesco F; Prontera, Paolo P; Toschi, Benedetta B; Salviati, Leonardo L; Melis, Daniela D; Di Battista, Eliana E; Vancini, Alessandra A; Garavelli, Livia L; Zelante, Leopoldo L; Merla, Giuseppe G

Publication Date: 2014-07

Variant appearance in text: KMT2D: 11434C>T; Gln3812X

PubMed Link: 24633898

Variant Present in the following documents:

• humu0035-0841-SD2.pdf

View BVdb publication page

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