Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: KMT2D: 15641G>A; Arg5214His

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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: 15641G>A; Arg5214His

PubMed Link: 36823319

Variant Present in the following documents:

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

View BVdb publication page

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: KMT2D: R5214H

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging

Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M

Publication Date: 2022-05-25

Variant appearance in text: KMT2D: 15641G>A; R5214H

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

View BVdb publication page

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Proteogenomics of non-small cell lung cancer reveals molecular subtypes associated with specific therapeutic targets and immune evasion mechanisms.

Nature Cancer

Lehtiö, Janne J; Arslan, Taner T; Siavelis, Ioannis I; Pan, Yanbo Y; Socciarelli, Fabio F; Berkovska, Olena O; Umer, Husen M HM; Mermelekas, Georgios G; Pirmoradian, Mohammad M; Jönsson, Mats M; Brunnström, Hans H; Brustugun, Odd Terje OT; Purohit, Krishna Pinganksha KP; Cunningham, Richard R; Foroughi Asl, Hassan H; Isaksson, Sofi S; Arbajian, Elsa E; Aine, Mattias M; Karlsson, Anna A; Kotevska, Marija M; Gram Hansen, Carsten C; Drageset Haakensen, Vilde V; Helland, Åslaug Å; Tamborero, David D; Johansson, Henrik J HJ; Branca, Rui M RM; Planck, Maria M; Staaf, Johan J; Orre, Lukas M LM

Publication Date: 2021-11

Variant appearance in text: KMT2D: 15641G>A; Arg5214His

PubMed Link: 34870237

Variant Present in the following documents:

• EMS133264-supplement-Supplementary_Tables.xlsx, sheet 9

View BVdb publication page

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A comprehensive analysis of somatic alterations in Chinese ovarian cancer patients.

Scientific Reports

Zhang, Yingli Y; Shi, Xiaoliang X; Zhang, Jiejie J; Chen, Xi X; Zhang, Peng P; Liu, Angen A; Zhu, Tao T

Publication Date: 2021-01-11

Variant appearance in text: KMT2D: 15641G>A; R5214H

PubMed Link: 33432021

Variant Present in the following documents:

• 41598_2020_79694_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology

Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S

Publication Date: 2020

Variant appearance in text: KMT2D: R5214H

PubMed Link: 33133066

Variant Present in the following documents:

• Table_1.xlsx, sheet 2
• Table_6.xlsx, sheet 7
• Table_6.xlsx, sheet 2

View BVdb publication page

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Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Nature Communications

Pandey, Akhilesh A; Stawiski, Eric W EW; Durinck, Steffen S; Gowda, Harsha H; Goldstein, Leonard D LD; Barbhuiya, Mustafa A MA; Schröder, Markus S MS; Sreenivasamurthy, Sreelakshmi K SK; Kim, Sun-Whe SW; Phalke, Sameer S; Suryamohan, Kushal K; Lee, Kayla K; Chakraborty, Papia P; Kode, Vasumathi V; Shi, Xiaoshan X; Chatterjee, Aditi A; Datta, Keshava K; Khan, Aafaque A AA; Subbannayya, Tejaswini T; Wang, Jing J; Chaudhuri, Subhra S; Gupta, Sanjiv S; Shrivastav, Braj Raj BR; Jaiswal, Bijay S BS; Poojary, Satish S SS; Bhunia, Shushruta S; Garcia, Patricia P; Bizama, Carolina C; Rosa, Lorena L; Kwon, Wooil W; Kim, Hongbeom H; Han, Youngmin Y; Yadav, Thakur Deen TD; Ramprasad, Vedam L VL; Chaudhuri, Amitabha A; Modrusan, Zora Z; Roa, Juan Carlos JC; Tiwari, Pramod Kumar PK; Jang, Jin-Young JY; Seshagiri, Somasekar S

Publication Date: 2020-08-24

Variant appearance in text: KMT2D: 15641G>A; Arg5214His

PubMed Link: 32839463

Variant Present in the following documents:

• 41467_2020_17880_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical Application of Targeted Deep Sequencing in Metastatic Colorectal Cancer Patients: Actionable Genomic Alteration in K-MASTER Project.

Cancer Research And Treatment

Lee, Youngwoo Y; Lee, Soohyeon S; Sung, Jae Sook JS; Chung, Hee-Joon HJ; Lim, Ah-Reum AR; Kim, Ju Won JW; Choi, Yoon Ji YJ; Park, Kyong Hwa KH; Kim, Yeul Hong YH

Publication Date: 2021-01

Variant appearance in text: KMT2D: R5214H

PubMed Link: 32810930

Variant Present in the following documents:

• crt-2020-559-suppl3.pdf

View BVdb publication page

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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

Publication Date: 2020-06-23

Variant appearance in text: KMT2D: R5214H

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Modeling biological and genetic diversity in upper tract urothelial carcinoma with patient derived xenografts.

Nature Communications

Kim, Kwanghee K; Hu, Wenhuo W; Audenet, François F; Almassi, Nima N; Hanrahan, Aphrothiti J AJ; Murray, Katie K; Bagrodia, Aditya A; Wong, Nathan N; Clinton, Timothy N TN; Dason, Shawn S; Mohan, Vishnu V; Jebiwott, Sylvia S; Nagar, Karan K; Gao, Jianjiong J; Penson, Alex A; Hughes, Chris C; Gordon, Benjamin B; Chen, Ziyu Z; Dong, Yiyu Y; Watson, Philip A PA; Alvim, Ricardo R; Elzein, Arijh A; Gao, Sizhi P SP; Cocco, Emiliano E; Santin, Alessandro D AD; Ostrovnaya, Irina I; Hsieh, James J JJ; Sagi, Irit I; Pietzak, Eugene J EJ; Hakimi, A Ari AA; Rosenberg, Jonathan E JE; Iyer, Gopa G; Vargas, Herbert A HA; Scaltriti, Maurizio M; Al-Ahmadie, Hikmat H; Solit, David B DB; Coleman, Jonathan A JA

Publication Date: 2020-04-24

Variant appearance in text: KMT2D: 15641G>A; R5214H

PubMed Link: 32332851

Variant Present in the following documents:

• 41467_2020_15885_MOESM3_ESM.xlsx, sheet 5
• 41467_2020_15885_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: KMT2D: 15641G>A; R5214H

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated analysis of relapsed B-cell precursor Acute Lymphoblastic Leukemia identifies subtype-specific cytokine and metabolic signatures.

Scientific Reports

Schroeder, Michael P MP; Bastian, Lorenz L; Eckert, Cornelia C; Gökbuget, Nicola N; James, Alva Rani AR; Tanchez, Jutta Ortiz JO; Schlee, Cornelia C; Isaakidis, Konstandina K; Häupl, Björn B; Baum, Katharina K; Migueles Lozano, Oscar Arturo OA; Kouidri, Khouloud K; Pan, Kuan-Ting KT; Urlaub, Henning H; Schwartz, Stefan S; Burmeister, Thomas T; von Stackelberg, Arend A; Hoelzer, Dieter D; Pfeiffer, Heike H; Rieger, Michael A MA; Göllner, Stefanie S; Oellerich, Thomas T; Horstman, Martin M; Schrappe, Martin M; Wolf, Jana J; Kirschner-Schwabe, Renate R; Brüggemann, Monika M; Müller-Tidow, Carsten C; Serve, Hubert H; Neumann, Martin M; Baldus, Claudia D CD

Publication Date: 2019-03-12

Variant appearance in text: KMT2D: R5214H; rs398123729

PubMed Link: 30862934

Variant Present in the following documents:

• 41598_2019_40786_MOESM2_ESM.xlsx, sheet 2

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: 15641G>A; Arg5214His

PubMed Link: 30107592

Variant Present in the following documents:

• Main text

View BVdb publication page

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Neurobehavioral features in individuals with Kabuki syndrome.

Molecular Genetics & Genomic Medicine

Caciolo, Cristina C; Alfieri, Paolo P; Piccini, Giorgia G; Digilio, Maria Cristina MC; Lepri, Francesca Romana FR; Tartaglia, Marco M; Menghini, Deny D; Vicari, Stefano S

Publication Date: 2018-05

Variant appearance in text: KMT2D: 15641G>A

PubMed Link: 29536651

Variant Present in the following documents:

• Main text
• MGG3-6-322.pdf

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: 15641G>A; R5214H

PubMed Link: 28804123

Variant Present in the following documents:

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

View BVdb publication page

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Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia.

Leukemia

Vesely, C C; Frech, C C; Eckert, C C; Cario, G G; Mecklenbräuker, A A; Zur Stadt, U U; Nebral, K K; Kraler, F F; Fischer, S S; Attarbaschi, A A; Schuster, M M; Bock, C C; Cavé, H H; von Stackelberg, A A; Schrappe, M M; Horstmann, M A MA; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R

Publication Date: 2017-07

Variant appearance in text: KMT2D: R5214H

PubMed Link: 27899802

Variant Present in the following documents:

• leu2016365x3.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: 15641G>A; Arg5214His

PubMed Link: 24633898

Variant Present in the following documents:

• humu0035-0841-SD2.pdf

View BVdb publication page

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