Publications:

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Circulating Tumor DNA Monitoring Reveals Molecular Progression before Radiologic Progression in a Real-life Cohort of Patients with Advanced Non-small Cell Lung Cancer.

Cancer Research Communications

Frank, Malene S MS; Andersen, Christina S A CSA; Ahlborn, Lise B LB; Pallisgaard, Niels N; Bodtger, Uffe U; Gehl, Julie J

Publication Date: 2022-10

Variant appearance in text: KMT2D: 8311C>T; R2771*

PubMed Link: 36969747

Variant Present in the following documents:

• crc-22-0258-s08.xlsx, sheet 1

View BVdb publication page

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Relapse timing is associated with distinct evolutionary dynamics in DLBCL.

Medrxiv : The Preprint Server For Health Sciences

Hilton, Laura K LK; Ngu, Henry S HS; Collinge, Brett B; Dreval, Kostiantyn K; Ben-Neriah, Susana S; Rushton, Christopher K CK; Wong, Jasper C H JCH; Cruz, Manuela M; Roth, Andrew A; Boyle, Merrill M; Meissner, Barbara B; Slack, Graham W GW; Farinha, Pedro P; Craig, Jeffrey W JW; Gerrie, Alina S AS; Freeman, Ciara L CL; Villa, Diego D; Crump, Michael M; Shepherd, Lois L; Hay, Annette E AE; Kuruvilla, John J; Savage, Kerry J KJ; Kridel, Robert R; Karsan, Aly A; Marra, Marco A MA; Sehn, Laurie H LH; Steidl, Christian C; Morin, Ryan D RD; Scott, David W DW

Publication Date: 2023-03-08

Variant appearance in text: KMT2D: 8311C>T; Arg2771Ter

PubMed Link: 36945587

Variant Present in the following documents:

• media-1.xlsx, sheet 14

View BVdb publication page

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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: KMT2D: 8311C>T; Arg2771Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
• 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4

View BVdb publication page

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Evolutionary route of nasopharyngeal carcinoma metastasis and its clinical significance.

Nature Communications

Lin, Mei M; Zhang, Xiao-Long XL; You, Rui R; Liu, You-Ping YP; Cai, Hong-Min HM; Liu, Li-Zhi LZ; Liu, Xue-Fei XF; Zou, Xiong X; Xie, Yu-Long YL; Zou, Ru-Hai RH; Zhang, Yi-Nuan YN; Sun, Rui R; Feng, Wei-Yi WY; Wang, Hai-Yan HY; Tao, Gui-Hua GH; Li, Hao-Jiang HJ; Huang, Wen-Jie WJ; Zhang, Chao C; Huang, Pei-Yu PY; Wang, Jin J; Zhao, Qi Q; Yang, Qi Q; Zhang, Hong-Wan HW; Liu, Ting T; Li, Hui-Feng HF; Jiang, Xiao-Bing XB; Tang, Jun J; Gu, Yang-Kui YK; Yu, Tao T; Wang, Zhi-Qiang ZQ; Feng, Lin L; Kang, Tie-Bang TB; Zuo, Zhi-Xiang ZX; Chen, Ming-Yuan MY

Publication Date: 2023-02-04

Variant appearance in text: KMT2D: 8311C>T; R2771X

PubMed Link: 36739462

Variant Present in the following documents:

• 41467_2023_35995_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Association of KMT2C/D loss-of-function variants with response to immune checkpoint blockades in colorectal cancer.

Cancer Science

Liu, Ruiqi R; Niu, Yanling Y; Liu, Chao C; Zhang, Xin X; Zhang, Jinku J; Shi, Min M; Zou, Wenbo W; Gu, Binbin B; Zhu, Honglin H; Wang, Danhua D; Yuan, Hongling H; Li, Wei W; Zhao, Dandan D; Zheng, Qiaosong Q; Liu, Rong R; Chen, Weiping W; Ma, Tonghui T; Zhang, Yanqiao Y

Publication Date: 2023-01-05

Variant appearance in text: KMT2D: 8311C>T; Arg2771Ter

PubMed Link: 36601880

Variant Present in the following documents:

• CAS-114-1229-s004.xlsx, sheet 2

View BVdb publication page

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NGS-based targeted gene mutational profiles in Korean patients with pancreatic cancer.

Scientific Reports

Jung, Kwangrok K; Lee, Sejoon S; Na, Hee Young HY; Kim, Ji-Won JW; Lee, Jong-Chan JC; Hwang, Jin-Hyeok JH; Kim, Jin Won JW; Kim, Jaihwan J

Publication Date: 2022-12-03

Variant appearance in text: KMT2D: 8311C>T

PubMed Link: 36463295

Variant Present in the following documents:

• 41598_2022_24732_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Single-cell profiling reveals a memory B cell-like subtype of follicular lymphoma with increased transformation risk.

Nature Communications

Wang, Xuehai X; Nissen, Michael M; Gracias, Deanne D; Kusakabe, Manabu M; Simkin, Guillermo G; Jiang, Aixiang A; Duns, Gerben G; Sarkozy, Clementine C; Hilton, Laura L; Chavez, Elizabeth A EA; Segat, Gabriela C GC; Wong, Rachel R; Kim, Jubin J; Aoki, Tomohiro T; Islam, Rashedul R; May, Christina C; Hung, Stacy S; Tyshchenko, Kate K; Brinkman, Ryan R RR; Hirst, Martin M; Karsan, Aly A; Freeman, Ciara C; Sehn, Laurie H LH; Morin, Ryan D RD; Roth, Andrew J AJ; Savage, Kerry J KJ; Craig, Jeffrey W JW; Shah, Sohrab P SP; Steidl, Christian C; Scott, David W DW; Weng, Andrew P AP

Publication Date: 2022-11-09

Variant appearance in text: KMT2D: 8311C>T; R2771*

PubMed Link: 36351924

Variant Present in the following documents:

• 41467_2022_34408_MOESM10_ESM.xlsx, sheet 3

View BVdb publication page

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Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.

Cancer Communications (London, England)

Wu, Huanwen H; Yu, Zicheng Z; Liu, Yueping Y; Guo, Lei L; Teng, Lianghong L; Guo, Lingchuan L; Liang, Li L; Wang, Jing J; Gao, Jie J; Li, Ruiyu R; Yang, Ling L; Nie, Xiu X; Su, Dan D; Liang, Zhiyong Z

Publication Date: 2022-10-20

Variant appearance in text: KMT2D: 8311C>T; R2771*

PubMed Link: 36264285

Variant Present in the following documents:

• CAC2-42-1367-s002.xlsx, sheet 3

View BVdb publication page

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Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.

Blood Advances

Crouch, Simon S; Painter, Daniel D; Barrans, Sharon L SL; Roman, Eve E; Beer, Philip A PA; Cooke, Susanna L SL; Glover, Paul P; Van Hoppe, Suzan J L SJL; Webster, Nichola N; Lacy, Stuart E SE; Ruiz, Camilo C; Campbell, Peter J PJ; Hodson, Daniel J DJ; Patmore, Russell R; Burton, Cathy C; Smith, Alexandra A; Tooze, Reuben M RM

Publication Date: 2022-11-08

Variant appearance in text: KMT2D: R2771*

PubMed Link: 35363872

Variant Present in the following documents:

• BLOODA_ADV-2021-005284-mmc1.xlsx, sheet 2

View BVdb publication page

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Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Blood Advances

Bruscaggin, Alessio A; di Bergamo, Lodovico Terzi LT; Spina, Valeria V; Hodkinson, Brendan B; Forestieri, Gabriela G; Bonfiglio, Ferdinando F; Condoluci, Adalgisa A; Wu, Wei W; Pirosa, Maria C MC; Faderl, Martin R MR; Koch, Ricardo R; Schaffer, Michael M; Alvarez, John D JD; Fourneau, Nele N; Gerber, Bernhard B; Stussi, Georg G; Zucca, Emanuele E; Balasubramanian, Sriram S; Rossi, Davide D

Publication Date: 2021-11-23

Variant appearance in text: KMT2D: 8311C>T; R2771*

PubMed Link: 34500472

Variant Present in the following documents:

• advancesADV2021004528-suppl2.xlsx, sheet 7

View BVdb publication page

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Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Blood Advances

Bruscaggin, Alessio A; di Bergamo, Lodovico Terzi LT; Spina, Valeria V; Hodkinson, Brendan B; Forestieri, Gabriela G; Bonfiglio, Ferdinando F; Condoluci, Adalgisa A; Wu, Wei W; Pirosa, Maria C MC; Faderl, Martin R MR; Koch, Ricardo R; Schaffer, Michael M; Alvarez, John D JD; Fourneau, Nele N; Gerber, Bernhard B; Stussi, Georg G; Zucca, Emanuele E; Balasubramanian, Sriram S; Rossi, Davide D

Publication Date: 2021-11-23

Variant appearance in text: KMT2D: 8311C>T; R2771*

PubMed Link: 34500472

Variant Present in the following documents:

• advancesADV2021004528-suppl2.xlsx, sheet 7

View BVdb publication page

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Genetic mechanisms of HLA-I loss and immune escape in diffuse large B cell lymphoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Fangazio, Marco M; Ladewig, Erik E; Gomez, Karen K; Garcia-Ibanez, Laura L; Kumar, Rahul R; Teruya-Feldstein, Julie J; Rossi, Davide D; Filip, Ioan I; Pan-Hammarström, Qiang Q; Inghirami, Giorgio G; Boldorini, Renzo R; Ott, German G; Staiger, Annette M AM; Chapuy, Björn B; Gaidano, Gianluca G; Bhagat, Govind G; Basso, Katia K; Rabadan, Raul R; Pasqualucci, Laura L; Dalla-Favera, Riccardo R

Publication Date: 2021-06-01

Variant appearance in text: KMT2D: R2771*

PubMed Link: 34050029

Variant Present in the following documents:

• pnas.2104504118.sd02.xlsx, sheet 1

View BVdb publication page

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Genomic Profiling Identified ERCC2 E606Q Mutation in Helicase Domain Respond to Platinum-Based Neoadjuvant Therapy in Urothelial Bladder Cancer.

Frontiers In Oncology

Hirotsu, Yosuke Y; Yokoyama, Hitoshi H; Amemiya, Kenji K; Hagimoto, Takashi T; Hosaka, Kyoko K; Oyama, Toshio T; Mochizuki, Hitoshi H; Omata, Masao M

Publication Date: 2020

Variant appearance in text: KMT2D: R2771*

PubMed Link: 32984035

Variant Present in the following documents:

• Main text
• fonc-10-01643.pdf

View BVdb publication page

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Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Bmc Cancer

Zhang, Wei W; Yang, Li L; Guan, Yu' Qi YQ; Shen, Ke' Feng KF; Zhang, Mei' Lan ML; Cai, Hao' Dong HD; Wang, Jia' Chen JC; Wang, Ying Y; Huang, Liang L; Cao, Yang Y; Wang, Na N; Tan, Xiao' Hong XH; Young, Ken He KH; Xiao, Min M; Zhou, Jian' Feng JF

Publication Date: 2020-07-31

Variant appearance in text: KMT2D: 8311C>T; Arg2771*

PubMed Link: 32736575

Variant Present in the following documents:

• 12885_2020_7198_MOESM5_ESM.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: R2771*

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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Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.

American Journal Of Medical Genetics. Part A

Baldridge, Dustin D; Spillmann, Rebecca C RC; Wegner, Daniel J DJ; Wambach, Jennifer A JA; White, Frances V FV; Sisco, Kathleen K; Toler, Tomi L TL; Dickson, Patricia I PI; Cole, F Sessions FS; Shashi, Vandana V; Grange, Dorothy K DK

Publication Date: 2020-05

Variant appearance in text: KMT2D: Arg2771*

PubMed Link: 32083401

Variant Present in the following documents:

• Main text

View BVdb publication page

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Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit.

Leukemia

Cucco, Francesco F; Barrans, Sharon S; Sha, Chulin C; Clipson, Alexandra A; Crouch, Simon S; Dobson, Rachel R; Chen, Zi Z; Thompson, Joe Sneath JS; Care, Matthew A MA; Cummin, Thomas T; Caddy, Josh J; Liu, Hongxiang H; Robinson, Anne A; Schuh, Anna A; Fitzgibbon, Jude J; Painter, Daniel D; Smith, Alexandra A; Roman, Eve E; Tooze, Reuben R; Burton, Catherine C; Davies, Andrew J AJ; Westhead, David R DR; Johnson, Peter W M PWM; Du, Ming-Qing MQ

Publication Date: 2020-05

Variant appearance in text: KMT2D: R2771X

PubMed Link: 31844144

Variant Present in the following documents:

• 41375_2019_691_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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Genomic profile of urine has high diagnostic sensitivity compared to cytology in non-invasive urothelial bladder cancer.

Cancer Science

Hirotsu, Yosuke Y; Yokoyama, Hitoshi H; Amemiya, Kenji K; Hagimoto, Takashi T; Daimon, Hironori H; Hosaka, Kyoko K; Oyama, Toshio T; Mochizuki, Hitoshi H; Omata, Masao M

Publication Date: 2019-10

Variant appearance in text: KMT2D: R2771*

PubMed Link: 31368627

Variant Present in the following documents:

• CAS-110-3235.pdf

View BVdb publication page

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PEDIA: prioritization of exome data by image analysis.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Hsieh, Tzung-Chien TC; Mensah, Martin A MA; Pantel, Jean T JT; Aguilar, Dione D; Bar, Omri O; Bayat, Allan A; Becerra-Solano, Luis L; Bentzen, Heidi B HB; Biskup, Saskia S; Borisov, Oleg O; Braaten, Oivind O; Ciaccio, Claudia C; Coutelier, Marie M; Cremer, Kirsten K; Danyel, Magdalena M; Daschkey, Svenja S; Eden, Hilda David HD; Devriendt, Koenraad K; Wilson, Sandra S; Douzgou, Sofia S; Đukić, Dejan D; Ehmke, Nadja N; Fauth, Christine C; Fischer-Zirnsak, Björn B; Fleischer, Nicole N; Gabriel, Heinz H; Graul-Neumann, Luitgard L; Gripp, Karen W KW; Gurovich, Yaron Y; Gusina, Asya A; Haddad, Nechama N; Hajjir, Nurulhuda N; Hanani, Yair Y; Hertzberg, Jakob J; Hoertnagel, Konstanze K; Howell, Janelle J; Ivanovski, Ivan I; Kaindl, Angela A; Kamphans, Tom T; Kamphausen, Susanne S; Karimov, Catherine C; Kathom, Hadil H; Keryan, Anna A; Knaus, Alexej A; Köhler, Sebastian S; Kornak, Uwe U; Lavrov, Alexander A; Leitheiser, Maximilian M; Lyon, Gholson J GJ; Mangold, Elisabeth E; Reina, Purificación Marín PM; Carrascal, Antonio Martinez AM; Mitter, Diana D; Herrador, Laura Morlan LM; Nadav, Guy G; Nöthen, Markus M; Orrico, Alfredo A; Ott, Claus-Eric CE; Park, Kristen K; Peterlin, Borut B; Pölsler, Laura L; Raas-Rothschild, Annick A; Randolph, Linda L; Revencu, Nicole N; Fagerberg, Christina Ringmann CR; Robinson, Peter Nick PN; Rosnev, Stanislav S; Rudnik, Sabine S; Rudolf, Gorazd G; Schatz, Ulrich U; Schossig, Anna A; Schubach, Max M; Shanoon, Or O; Sheridan, Eamonn E; Smirin-Yosef, Pola P; Spielmann, Malte M; Suk, Eun-Kyung EK; Sznajer, Yves Y; Thiel, Christian T CT; Thiel, Gundula G; Verloes, Alain A; Vrecar, Irena I; Wahl, Dagmar D; Weber, Ingrid I; Winter, Korina K; Wiśniewska, Marzena M; Wollnik, Bernd B; Yeung, Ming W MW; Zhao, Max M; Zhu, Na N; Zschocke, Johannes J; Mundlos, Stefan S; Horn, Denise D; Krawitz, Peter M PM

Publication Date: 2019-12

Variant appearance in text: KMT2D: 8311C>T

PubMed Link: 31164752

Variant Present in the following documents:

• 41436_2019_566_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Unraveling transformation of follicular lymphoma to diffuse large B-cell lymphoma.

Plos One

González-Rincón, Julia J; Méndez, Miriam M; Gómez, Sagrario S; García, Juan F JF; Martín, Paloma P; Bellas, Carmen C; Pedrosa, Lucía L; Rodríguez-Pinilla, Socorro M SM; Camacho, Francisca I FI; Quero, Cristina C; Pérez-Callejo, David D; Rueda, Antonio A; Llanos, Marta M; Gómez-Codina, José J; Piris, Miguel A MA; Montes-Moreno, Santiago S; Bárcena, Carmen C; Rodríguez-Abreu, Delvys D; Menárguez, Javier J; de la Cruz-Merino, Luis L; Monsalvo, Silvia S; Parejo, Consuelo C; Royuela, Ana A; Kwee, Ivo I; Cascione, Luciano L; Arribas, Alberto A; Bertoni, Francesco F; Mollejo, Manuela M; Provencio, Mariano M; Sánchez-Beato, Margarita M

Publication Date: 2019

Variant appearance in text: KMT2D: 8311C>T; Arg2771Ter

PubMed Link: 30802265

Variant Present in the following documents:

• pone.0212813.s010.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: 8311C>T; Arg2771*

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: 8311C>T; R2771*

PubMed Link: 29245897

Variant Present in the following documents:

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

View BVdb publication page

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Integrating genomic alterations in diffuse large B-cell lymphoma identifies new relevant pathways and potential therapeutic targets.

Leukemia

Karube, K K; Enjuanes, A A; Dlouhy, I I; Jares, P P; Martin-Garcia, D D; Nadeu, F F; Ordóñez, G R GR; Rovira, J J; Clot, G G; Royo, C C; Navarro, A A; Gonzalez-Farre, B B; Vaghefi, A A; Castellano, G G; Rubio-Perez, C C; Tamborero, D D; Briones, J J; Salar, A A; Sancho, J M JM; Mercadal, S S; Gonzalez-Barca, E E; Escoda, L L; Miyoshi, H H; Ohshima, K K; Miyawaki, K K; Kato, K K; Akashi, K K; Mozos, A A; Colomo, L L; Alcoceba, M M; Valera, A A; Carrió, A A; Costa, D D; Lopez-Bigas, N N; Schmitz, R R; Staudt, L M LM; Salaverria, I I; López-Guillermo, A A; Campo, E E

Publication Date: 2018-03

Variant appearance in text: KMT2D: 8311C>T; R2771*

PubMed Link: 28804123

Variant Present in the following documents:

• leu2017251x2.xlsx, sheet 3
• leu2017251x2.xlsx, sheet 4

View BVdb publication page

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Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders.

Oncotarget

Margolskee, Elizabeth E; Jobanputra, Vaidehi V; Jain, Preti P; Chen, Jinli J; Ganapathi, Karthik K; Nahum, Odelia O; Levy, Brynn B; Morscio, Julie J; Murty, Vundavalli V; Tousseyn, Thomas T; Alobeid, Bachir B; Mansukhani, Mahesh M; Bhagat, Govind G

Publication Date: 2016-06-21

Variant appearance in text: KMT2D: R2771X

PubMed Link: 27203213

Variant Present in the following documents:

• oncotarget-07-37636-s002.xlsx, sheet 1

View BVdb publication page

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: KMT2D: R2771X

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM1_ESM.xls, 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: 8311C>T; Arg2771X

PubMed Link: 24633898

Variant Present in the following documents:

• humu0035-0841-SD2.pdf

View BVdb publication page

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