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: 15535C>T; Arg5179Cys

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: 15535C>T; Arg5179Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 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: R5179C

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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Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

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

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: KMT2D: 15535C>T; Arg5179Cys

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

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A comparison of DNA sequencing and gene expression profiling to assist tissue of origin diagnosis in cancer of unknown primary.

The Journal Of Pathology

Posner, Atara A; Prall, Owen Wj OW; Sivakumaran, Tharani T; Etemadamoghadam, Dariush D; Thio, Niko N; Pattison, Andrew A; Balachander, Shiva S; Fisher, Krista K; Webb, Samantha S; Wood, Colin C; DeFazio, Anna A; Wilcken, Nicholas N; Gao, Bo B; Karapetis, Christos S CS; Singh, Madhu M; Collins, Ian M IM; Richardson, Gary G; Steer, Christopher C; Warren, Mark M; Karanth, Narayan N; Wright, Gavin G; Williams, Scott S; George, Joshy J; Hicks, Rodney J RJ; Boussioutas, Alex A; Gill, Anthony J AJ; Solomon, Benjamin J BJ; Xu, Huiling H; Fellowes, Andrew A; Fox, Stephen B SB; Schofield, Penelope P; Bowtell, David D; Mileshkin, Linda L; Tothill, Richard W RW

Publication Date: 2022-10-26

Variant appearance in text: KMT2D: Arg5179Cys

PubMed Link: 36287571

Variant Present in the following documents:

• PATH-259-81-s011.xlsx, sheet 2

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: KMT2D: 15535C>T; R5179C

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: KMT2D: 15535C>T; Arg5179Cys

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements.

Blood Advances

Frauenfeld, Leonie L; Castrejon-de-Anta, Natalia N; Ramis-Zaldivar, Joan Enric JE; Streich, Sebastian S; Salmerón-Villalobos, Julia J; Otto, Franziska F; Mayer, Annika Katharina AK; Steinhilber, Julia J; Pinyol, Magda M; Mankel, Barbara B; Ramsower, Colleen C; Bonzheim, Irina I; Fend, Falko F; Rimsza, Lisa M LM; Salaverria, Itziar I; Campo, Elias E; Balagué, Olga O; Quintanilla-Martinez, Leticia L

Publication Date: 2022-04-12

Variant appearance in text: KMT2D: R5179C

PubMed Link: 34654055

Variant Present in the following documents:

• advancesADV2021006034-suppl1.pdf

View BVdb publication page

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: KMT2D: 15535C>T

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

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: R5179C

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: 15535C>T; R5179C

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
• 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: R5179C

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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Multi-region sequencing unveils novel actionable targets and spatial heterogeneity in esophageal squamous cell carcinoma.

Nature Communications

Yan, Ting T; Cui, Heyang H; Zhou, Yong Y; Yang, Bin B; Kong, Pengzhou P; Zhang, Yingchun Y; Liu, Yiqian Y; Wang, Bin B; Cheng, Yikun Y; Li, Jiayi J; Guo, Shixing S; Xu, Enwei E; Liu, Huijuan H; Cheng, Caixia C; Zhang, Ling L; Chen, Ling L; Zhuang, Xiaofei X; Qian, Yu Y; Yang, Jian J; Ma, Yanchun Y; Li, Hongyi H; Wang, Fang F; Liu, Jing J; Liu, Xuefeng X; Su, Dan D; Wang, Yan Y; Sun, Ruifang R; Guo, Shiping S; Li, Yaoping Y; Cheng, Xiaolong X; Liu, Zhihua Z; Zhan, Qimin Q; Cui, Yongping Y

Publication Date: 2019-04-11

Variant appearance in text: KMT2D: 15535C>T; R5179C

PubMed Link: 30975989

Variant Present in the following documents:

• 41467_2019_9255_MOESM4_ESM.xlsx, sheet 1
• 41467_2019_9255_MOESM1_ESM.pdf

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: 15535C>T; Arg5179Cys

PubMed Link: 30712880

Variant Present in the following documents:

• mmc1.pdf

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: 15535C>T; Arg5179Cys

PubMed Link: 29536651

Variant Present in the following documents:

• Main text
• MGG3-6-322.pdf

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: R5179C

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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The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Human Genetics

Monies, Dorota D; Abouelhoda, Mohamed M; AlSayed, Moeenaldeen M; Alhassnan, Zuhair Z; Alotaibi, Maha M; Kayyali, Husam H; Al-Owain, Mohammed M; Shah, Ayaz A; Rahbeeni, Zuhair Z; Al-Muhaizea, Mohammad A MA; Alzaidan, Hamad I HI; Cupler, Edward E; Bohlega, Saeed S; Faqeih, Eissa E; Faden, Maha M; Alyounes, Banan B; Jaroudi, Dyala D; Goljan, Ewa E; Elbardisy, Hadeel H; Akilan, Asma A; Albar, Renad R; Aldhalaan, Hesham H; Gulab, Shamshad S; Chedrawi, Aziza A; Al Saud, Bandar K BK; Kurdi, Wesam W; Makhseed, Nawal N; Alqasim, Tahani T; El Khashab, Heba Y HY; Al-Mousa, Hamoud H; Alhashem, Amal A; Kanaan, Imaduddin I; Algoufi, Talal T; Alsaleem, Khalid K; Basha, Talal A TA; Al-Murshedi, Fathiya F; Khan, Sameena S; Al-Kindy, Adila A; Alnemer, Maha M; Al-Hajjar, Sami S; Alyamani, Suad S; Aldhekri, Hasan H; Al-Mehaidib, Ali A; Arnaout, Rand R; Dabbagh, Omar O; Shagrani, Mohammad M; Broering, Dieter D; Tulbah, Maha M; Alqassmi, Amal A; Almugbel, Maisoon M; AlQuaiz, Mohammed M; Alsaman, Abdulaziz A; Al-Thihli, Khalid K; Sulaiman, Raashda A RA; Al-Dekhail, Wajeeh W; Alsaegh, Abeer A; Bashiri, Fahad A FA; Qari, Alya A; Alhomadi, Suzan S; Alkuraya, Hisham H; Alsebayel, Mohammed M; Hamad, Muddathir H MH; Szonyi, Laszlo L; Abaalkhail, Faisal F; Al-Mayouf, Sulaiman M SM; Almojalli, Hamad H; Alqadi, Khalid S KS; Elsiesy, Hussien H; Shuaib, Taghreed M TM; Seidahmed, Mohammed Zain MZ; Abosoudah, Ibraheem I; Akleh, Hana H; AlGhonaium, Abdulaziz A; Alkharfy, Turki M TM; Al Mutairi, Fuad F; Eyaid, Wafa W; Alshanbary, Abdullah A; Sheikh, Farrukh R FR; Alsohaibani, Fahad I FI; Alsonbul, Abdullah A; Al Tala, Saeed S; Balkhy, Soher S; Bassiouni, Randa R; Alenizi, Ahmed S AS; Hussein, Maged H MH; Hassan, Saeed S; Khalil, Mohamed M; Tabarki, Brahim B; Alshahwan, Saad S; Oshi, Amira A; Sabr, Yasser Y; Alsaadoun, Saad S; Salih, Mustafa A MA; Mohamed, Sarar S; Sultana, Habiba H; Tamim, Abdullah A; El-Haj, Moayad M; Alshahrani, Saif S; Bubshait, Dalal K DK; Alfadhel, Majid M; Faquih, Tariq T; El-Kalioby, Mohamed M; Subhani, Shazia S; Shah, Zeeshan Z; Moghrabi, Nabil N; Meyer, Brian F BF; Alkuraya, Fowzan S FS

Publication Date: 2017-08

Variant appearance in text: KMT2D: 15535C>T; R5179C

PubMed Link: 28600779

Variant Present in the following documents:

• 439_2017_1821_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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