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: 15536G>A; Arg5179His

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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Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways.

Human Molecular Genetics

Wilson, Kate K; Newbury, Dianne F DF; Kini, Usha U

Publication Date: 2023-04-03

Variant appearance in text: KMT2D: 15536G>A; Arg5179His

PubMed Link: 37010288

Variant Present in the following documents:

• supptables_hmg-2022-ce-00520-r1_wilson_without_id_ddad023.xlsx, sheet 5

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: 15536G>A; Arg5179His

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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Exploring prognostic indicators in the pathological images of ovarian cancer based on a deep survival network.

Frontiers In Genetics

Wu, Meixuan M; Zhu, Chengguang C; Yang, Jiani J; Cheng, Shanshan S; Yang, Xiaokang X; Gu, Sijia S; Xu, Shilin S; Wu, Yongsong Y; Shen, Wei W; Huang, Shan S; Wang, Yu Y

Publication Date: 2022

Variant appearance in text: KMT2D: 15536G>A; R5179H; rs267607237

PubMed Link: 36685892

Variant Present in the following documents:

• Table2.xlsx, sheet 1

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: R5179H

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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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: KMT2D: R5179H

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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A genetically distinct pediatric subtype of primary CNS large B-cell lymphoma is associated with favorable clinical outcome.

Blood Advances

Güney, Ekin E; Lucas, Calixto-Hope G CG; Qi, Zhongxia Z; Yu, Jingwei J; Zhang, Ruth R; Ohgami, Robert S RS; Rubenstein, James L JL; Boué, Daniel R DR; Schafernak, Kristian K; Wertheim, Gerald B GB; Dahiya, Sonika S; Giulino-Roth, Lisa L; Attarbaschi, Andishe A; Barth, Matthew J MJ; Kothari, Shalin S; Abla, Oussama O; Cohen, Adam L AL; Mendez, Joe S JS; Bollen, Andrew A; Perry, Arie A; Tihan, Tarik T; Pekmezci, Melike M; Solomon, David A DA; Wen, Kwun Wah KW

Publication Date: 2022-05-24

Variant appearance in text: KMT2D: 15536G>A; R5179H

PubMed Link: 35157770

Variant Present in the following documents:

• advancesADV2021006018-suppl1.pdf

View BVdb publication page

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Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

Plos Genetics

Audain, Enrique E; Wilsdon, Anna A; Breckpot, Jeroen J; Izarzugaza, Jose M G JMG; Fitzgerald, Tomas W TW; Kahlert, Anne-Karin AK; Sifrim, Alejandro A; Wünnemann, Florian F; Perez-Riverol, Yasset Y; Abdul-Khaliq, Hashim H; Bak, Mads M; Bassett, Anne S AS; Benson, D Woodrow DW; Berger, Felix F; Daehnert, Ingo I; Devriendt, Koenraad K; Dittrich, Sven S; Daubeney, Piers Ef PE; Garg, Vidu V; Hackmann, Karl K; Hoff, Kirstin K; Hofmann, Philipp P; Dombrowsky, Gregor G; Pickardt, Thomas T; Bauer, Ulrike U; Keavney, Bernard D BD; Klaassen, Sabine S; Kramer, Hans-Heiner HH; Marshall, Christian R CR; Milewicz, Dianna M DM; Lemaire, Scott S; Coselli, Joseph S JS; Mitchell, Michael E ME; Tomita-Mitchell, Aoy A; Prakash, Siddharth K SK; Stamm, Karl K; Stewart, Alexandre F R AFR; Silversides, Candice K CK; Siebert, Reiner R; Stiller, Brigitte B; Rosenfeld, Jill A JA; Vater, Inga I; Postma, Alex V AV; Caliebe, Almuth A; Brook, J David JD; Andelfinger, Gregor G; Hurles, Matthew E ME; Thienpont, Bernard B; Larsen, Lars Allan LA; Hitz, Marc-Phillip MP

Publication Date: 2021-07

Variant appearance in text: KMT2D: 15536G>A; Arg5179His

PubMed Link: 34324492

Variant Present in the following documents:

• pgen.1009679.s019.xlsx, sheet 3

View BVdb publication page

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Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology

Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z

Publication Date: 2021-08

Variant appearance in text: KMT2D: 15536G>A; R5179H

PubMed Link: 33860439

Variant Present in the following documents:

• 12035_2021_2377_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Recurring urothelial carcinomas show genomic rearrangements incompatible with a direct relationship.

Scientific Reports

Marzouka, Nour-Al-Dain NA; Lindgren, David D; Eriksson, Pontus P; Sjödahl, Gottfrid G; Bernardo, Carina C; Liedberg, Fredrik F; Axelson, Håkan H; Höglund, Mattias M

Publication Date: 2020-11-11

Variant appearance in text: KMT2D: 15536G>A; R5179H; rs267607237

PubMed Link: 33177554

Variant Present in the following documents:

• 41598_2020_75854_MOESM1_ESM.xlsx, sheet 4

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: R5179H

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Classification of gastric cancer by EBV status combined with molecular profiling predicts patient prognosis.

Clinical And Translational Medicine

He, Cai-Yun CY; Qiu, Miao-Zhen MZ; Yang, Xin-Hua XH; Zhou, Da-Lei DL; Ma, Jiang-Jun JJ; Long, Ya-Kang YK; Ye, Zu-Lu ZL; Xu, Bo-Heng BH; Zhao, Qi Q; Jin, Ying Y; Lu, Shi-Xun SX; Wang, Zhi-Qiang ZQ; Guan, Wen-Long WL; Zhao, Bai-Wei BW; Zhou, Zhi-Wei ZW; Shao, Jian-Yong JY; Xu, Rui-Hua RH

Publication Date: 2020-01

Variant appearance in text: KMT2D: 15536G>A; Arg5179His; rs267607237

PubMed Link: 32508039

Variant Present in the following documents:

• CTM2-10-353-s003.xlsx, sheet 3

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: R5179H

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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De novo variants in exomes of congenital heart disease patients identify risk genes and pathways.

Genome Medicine

Sevim Bayrak, Cigdem C; Zhang, Peng P; Tristani-Firouzi, Martin M; Gelb, Bruce D BD; Itan, Yuval Y

Publication Date: 2020-01-15

Variant appearance in text: KMT2D: R5179H

PubMed Link: 31941532

Variant Present in the following documents:

• 13073_2019_709_MOESM1_ESM.xlsx, sheet 2

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: 15536G>A; R5179H

PubMed Link: 31925297

Variant Present in the following documents:

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

View BVdb publication page

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Analysis of error profiles in deep next-generation sequencing data.

Genome Biology

Ma, Xiaotu X; Shao, Ying Y; Tian, Liqing L; Flasch, Diane A DA; Mulder, Heather L HL; Edmonson, Michael N MN; Liu, Yu Y; Chen, Xiang X; Newman, Scott S; Nakitandwe, Joy J; Li, Yongjin Y; Li, Benshang B; Shen, Shuhong S; Wang, Zhaoming Z; Shurtleff, Sheila S; Robison, Leslie L LL; Levy, Shawn S; Easton, John J; Zhang, Jinghui J

Publication Date: 2019-03-14

Variant appearance in text: KMT2D: R5179H

PubMed Link: 30867008

Variant Present in the following documents:

• 13059_2019_1659_MOESM1_ESM.xlsx, sheet 7

View BVdb publication page

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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.

Lancet (London, England)

Lord, Jenny J; McMullan, Dominic J DJ; Eberhardt, Ruth Y RY; Rinck, Gabriele G; Hamilton, Susan J SJ; Quinlan-Jones, Elizabeth E; Prigmore, Elena E; Keelagher, Rebecca R; Best, Sunayna K SK; Carey, Georgina K GK; Mellis, Rhiannon R; Robart, Sarah S; Berry, Ian R IR; Chandler, Kate E KE; Cilliers, Deirdre D; Cresswell, Lara L; Edwards, Sandra L SL; Gardiner, Carol C; Henderson, Alex A; Holden, Simon T ST; Homfray, Tessa T; Lester, Tracy T; Lewis, Rebecca A RA; Newbury-Ecob, Ruth R; Prescott, Katrina K; Quarrell, Oliver W OW; Ramsden, Simon C SC; Roberts, Eileen E; Tapon, Dagmar D; Tooley, Madeleine J MJ; Vasudevan, Pradeep C PC; Weber, Astrid P AP; Wellesley, Diana G DG; Westwood, Paul P; White, Helen H; Parker, Michael M; Williams, Denise D; Jenkins, Lucy L; Scott, Richard H RH; Kilby, Mark D MD; Chitty, Lyn S LS; Hurles, Matthew E ME; Maher, Eamonn R ER; ,

Publication Date: 2019-02-23

Variant appearance in text: KMT2D: 15536G>A; Arg5179His

PubMed Link: 30712880

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer

Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L

Publication Date: 2019-02-01

Variant appearance in text: KMT2D: 15536G>A; R5179H

PubMed Link: 30709382

Variant Present in the following documents:

• 12885_2019_5313_MOESM2_ESM.xlsx, sheet 1
• 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Non-invasive monitoring of diffuse large B-cell lymphoma by cell-free DNA high-throughput targeted sequencing: analysis of a prospective cohort.

Blood Cancer Journal

Bohers, Elodie E; Viailly, Pierre-Julien PJ; Becker, Stéphanie S; Marchand, Vinciane V; Ruminy, Philippe P; Maingonnat, Catherine C; Bertrand, Philippe P; Etancelin, Pascaline P; Picquenot, Jean-Michel JM; Camus, Vincent V; Menard, Anne-Lise AL; Lemasle, Emilie E; Contentin, Nathalie N; Leprêtre, Stéphane S; Lenain, Pascal P; Stamatoullas, Aspasia A; Lanic, Hélène H; Libraire, Julie J; Vaudaux, Sandrine S; Pepin, Louis-Ferdinand LF; Vera, Pierre P; Tilly, Hervé H; Jardin, Fabrice F

Publication Date: 2018-08-01

Variant appearance in text: KMT2D: R5179H

PubMed Link: 30069017

Variant Present in the following documents:

• 41408_2018_111_MOESM2_ESM.pdf

View BVdb publication page

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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nature Genetics

Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M

Publication Date: 2017-11

Variant appearance in text: KMT2D: R5179H

PubMed Link: 28991257

Variant Present in the following documents:

• NIHMS906719-supplement-supp_datasets.xlsx, sheet 9

View BVdb publication page

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: KMT2D: Arg5179His; rs267607237

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: KMT2D: 15536G>A; Arg5179His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.

American Journal Of Human Genetics

Butcher, Darci T DT; Cytrynbaum, Cheryl C; Turinsky, Andrei L AL; Siu, Michelle T MT; Inbar-Feigenberg, Michal M; Mendoza-Londono, Roberto R; Chitayat, David D; Walker, Susan S; Machado, Jerry J; Caluseriu, Oana O; Dupuis, Lucie L; Grafodatskaya, Daria D; Reardon, William W; Gilbert-Dussardier, Brigitte B; Verloes, Alain A; Bilan, Frederic F; Milunsky, Jeff M JM; Basran, Raveen R; Papsin, Blake B; Stockley, Tracy L TL; Scherer, Stephen W SW; Choufani, Sanaa S; Brudno, Michael M; Weksberg, Rosanna R

Publication Date: 2017-05-04

Variant appearance in text: KMT2D: 15536G>A; Arg5179His

PubMed Link: 28475860

Variant Present in the following documents:

• mmc1.pdf
• mmc3.pdf

View BVdb publication page

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