Publications:

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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: 12985C>T; Gln4329Ter

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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A 9-LncRNA Signature for Predicting Prognosis and Immune Response in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology

Wang, Xiaoxuan X; Lu, Yaxiao Y; Liu, Ziyi Z; Zhang, Yidan Y; He, You Y; Sun, Cong C; Li, Lanfang L; Zhai, Qiongli Q; Meng, Bin B; Ren, Xiubao X; Wu, Xudong X; Zhang, Huilai H; Wang, Xianhuo X

Publication Date: 2022

Variant appearance in text: KMT2D: 12985C>T; Gln4329*

PubMed Link: 35874768

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes.

Familial Cancer

Aukema, Sietse M SM; Glaser, Selina S; van den Hout, Mari F C M MFCM; Dahlum, Sonja S; Blok, Marinus J MJ; Hillmer, Morten M; Kolarova, Julia J; Sciot, Raf R; Schott, Dina A DA; Siebert, Reiner R; Stumpel, Constance T R M CTRM

Publication Date: 2022-07-19

Variant appearance in text: KMT2D: Gln4329*

PubMed Link: 35856126

Variant Present in the following documents:

• Main text
• 10689_2022_Article_306.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: Q4329*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.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: 12985C>T; Q4329*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

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: Q4329X

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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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: 12985C>T; Gln4329Ter

PubMed Link: 30802265

Variant Present in the following documents:

• pone.0212813.s010.xlsx, sheet 1

View BVdb publication page

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Analysis of Genomic Alteration in Primary Central Nervous System Lymphoma and the Expression of Some Related Genes.

Neoplasia (New York, N.Y.)

Zhou, Yangying Y; Liu, Wei W; Xu, Zhijie Z; Zhu, Hong H; Xiao, Desheng D; Su, Weiping W; Zeng, Ruolan R; Feng, Yuhua Y; Duan, Yumei Y; Zhou, Jianhua J; Zhong, Meizuo M

Publication Date: 2018-10

Variant appearance in text: KMT2D: 12985C>T; Gln4329*

PubMed Link: 30227305

Variant Present in the following documents:

• mmc1.xlsx, sheet 6

View BVdb publication page

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Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports

Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; Brünner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L

Publication Date: 2017-11-10

Variant appearance in text: KMT2D: 12985C>T; Q4329*

PubMed Link: 29127303

Variant Present in the following documents:

• 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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