Publications:

---

A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: KMT2C: R909K

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

---

Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.

Bmc Medical Genomics

Lin, Dafeng D; Wang, Dianpeng D; Li, Peimao P; Deng, Lihua L; Zhang, Zhimin Z; Zhang, Yanfang Y; Zhang, Ming M; Zhang, Naixing N

Publication Date: 2023-01-26

Variant appearance in text: KMT2C: 2726G>A; Arg909Lys; rs199504848

PubMed Link: 36703207

Variant Present in the following documents:

• 12920_2023_1442_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Whole-exome sequencing and bioinformatic analyses revealed differences in gene mutation profiles in papillary thyroid cancer patients with and without benign thyroid goitre background.

Frontiers In Endocrinology

Eng, Zing Hong ZH; Abdullah, Mardiaty Iryani MI; Ng, Khoon Leong KL; Abdul Aziz, Azlina A; Arba'ie, Nurul Hannis NH; Mat Rashid, Nurullainy N; Mat Junit, Sarni S

Publication Date: 2022

Variant appearance in text: KMT2C: 2726G>A; Arg909Lys; rs199504848

PubMed Link: 36686473

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

---

Gallbladder adenocarcinomas undergo subclonal diversification and selection from precancerous lesions to metastatic tumors.

Elife

Kang, Minsu M; Na, Hee Young HY; Ahn, Soomin S; Kim, Ji-Won JW; Lee, Sejoon S; Ahn, Soyeon S; Lee, Ju Hyun JH; Youk, Jeonghwan J; Kim, Haesook T HT; Kim, Kui-Jin KJ; Suh, Koung Jin KJ; Lee, Jun Suh JS; Kim, Se Hyun SH; Kim, Jin Won JW; Kim, Yu Jung YJ; Lee, Keun-Wook KW; Yoon, Yoo-Seok YS; Kim, Jee Hyun JH; Chung, Jin-Haeng JH; Han, Ho-Seong HS; Lee, Jong Seok JS

Publication Date: 2022-12-08

Variant appearance in text: KMT2C: R909K

PubMed Link: 36476508

Variant Present in the following documents:

• Main text
• elife-78636-supp2.xlsx, sheet 2
• elife-78636.pdf

View BVdb publication page

---

Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: KMT2C: R909K; rs199504848

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

A transcriptional network of cell cycle dysregulation in noninvasive papillary urothelial carcinoma.

Scientific Reports

Warrick, Joshua I JI; Knowles, Margaret A MA; Hurst, Carolyn D CD; Shuman, Lauren L; Raman, Jay D JD; Walter, Vonn V; Putt, Jeffrey J; Dyrskjøt, Lars L; Groeneveld, Clarice C; Castro, Mauro A A MAA; Robertson, A Gordon AG; DeGraff, David J DJ

Publication Date: 2022-10-03

Variant appearance in text: KMT2C: 2726G>A; R909K

PubMed Link: 36192513

Variant Present in the following documents:

• 41598_2022_20927_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

Spatially restricted drivers and transitional cell populations cooperate with the microenvironment in untreated and chemo-resistant pancreatic cancer.

Nature Genetics

Cui Zhou, Daniel D; Jayasinghe, Reyka G RG; Chen, Siqi S; Herndon, John M JM; Iglesia, Michael D MD; Navale, Pooja P; Wendl, Michael C MC; Caravan, Wagma W; Sato, Kazuhito K; Storrs, Erik E; Mo, Chia-Kuei CK; Liu, Jingxian J; Southard-Smith, Austin N AN; Wu, Yige Y; Naser Al Deen, Nataly N; Baer, John M JM; Fulton, Robert S RS; Wyczalkowski, Matthew A MA; Liu, Ruiyang R; Fronick, Catrina C CC; Fulton, Lucinda A LA; Shinkle, Andrew A; Thammavong, Lisa L; Zhu, Houxiang H; Sun, Hua H; Wang, Liang-Bo LB; Li, Yize Y; Zuo, Chong C; McMichael, Joshua F JF; Davies, Sherri R SR; Appelbaum, Elizabeth L EL; Robbins, Keenan J KJ; Chasnoff, Sara E SE; Yang, Xiaolu X; Reeb, Ashley N AN; Oh, Clara C; Serasanambati, Mamatha M; Lal, Preet P; Varghese, Rajees R; Mashl, Jay R JR; Ponce, Jennifer J; Terekhanova, Nadezhda V NV; Yao, Lijun L; Wang, Fang F; Chen, Lijun L; Schnaubelt, Michael M; Lu, Rita Jui-Hsien RJ; Schwarz, Julie K JK; Puram, Sidharth V SV; Kim, Albert H AH; Song, Sheng-Kwei SK; Shoghi, Kooresh I KI; Lau, Ken S KS; Ju, Tao T; Chen, Ken K; Chatterjee, Deyali D; Hawkins, William G WG; Zhang, Hui H; Achilefu, Samuel S; Chheda, Milan G MG; Oh, Stephen T ST; Gillanders, William E WE; Chen, Feng F; DeNardo, David G DG; Fields, Ryan C RC; Ding, Li L

Publication Date: 2022-09

Variant appearance in text: KMT2C: 2726G>A; R909K; rs199504848

PubMed Link: 35995947

Variant Present in the following documents:

• 41588_2022_1157_MOESM4_ESM.xlsx, sheet 2
• 41588_2022_1157_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

---

Breast carcinomas with osteoclast-like giant cells: a comprehensive clinico-pathological and molecular portrait and evidence of RANK-L expression.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Cyrta, Joanna J; Benoist, Camille C; Masliah-Planchon, Julien J; Vieira, Andre F AF; Pierron, Gaëlle G; Fuhrmann, Laetitia L; Richardot, Camille C; Caly, Martial M; Leclere, Renaud R; Mariani, Odette O; Da Maia, Elisabeth E; Larousserie, Frédérique F; Féron, Jean Guillaume JG; Carton, Matthieu M; Renault, Victor V; Bidard, François-Clément FC; Vincent-Salomon, Anne A

Publication Date: 2022-11

Variant appearance in text: MLL3: 2726G>A

PubMed Link: 35697931

Variant Present in the following documents:

• 41379_2022_1112_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

---

Feasibility and clinical utility of comprehensive genomic profiling of hematological malignancies.

Cancer Science

Fukuhara, Suguru S; Oshikawa-Kumade, Yuji Y; Kogure, Yasunori Y; Shingaki, Sumito S; Kariyazono, Hirokazu H; Kikukawa, Yoshiya Y; Koya, Junji J; Saito, Yuki Y; Tabata, Mariko M; Yoshifuji, Kota K; Mizuno, Kota K; Miyagi-Maeshima, Akiko A; Matsushita, Hiromichi H; Sugiyama, Masanaka M; Ogawa, Chitose C; Inamoto, Yoshihiro Y; Fukuda, Takahiro T; Sugano, Masato M; Yamauchi, Nobuhiko N; Minami, Yosuke Y; Hirata, Makoto M; Yoshida, Teruhiko T; Kohno, Takashi T; Kohsaka, Shinji S; Mano, Hiroyuki H; Shiraishi, Yuichi Y; Ogawa, Seishi S; Izutsu, Koji K; Kataoka, Keisuke K

Publication Date: 2022-08

Variant appearance in text: KMT2C: R909K

PubMed Link: 35579198

Variant Present in the following documents:

• CAS-113-2763-s003.xlsx, sheet 10

View BVdb publication page

---

Radiation therapy enhances immunotherapy response in microsatellite stable colorectal and pancreatic adenocarcinoma in a phase II trial.

Nature Cancer

Parikh, Aparna R AR; Szabolcs, Annamaria A; Allen, Jill N JN; Clark, Jeffrey W JW; Wo, Jennifer Y JY; Raabe, Michael M; Thel, Hannah H; Hoyos, David D; Mehta, Arnav A; Arshad, Sanya S; Lieb, David J DJ; Drapek, Lorraine C LC; Blaszkowsky, Lawrence S LS; Giantonio, Bruce J BJ; Weekes, Colin D CD; Zhu, Andrew X AX; Goyal, Lipika L; Nipp, Ryan D RD; Dubois, Jon S JS; Van Seventer, Emily E EE; Foreman, Bronwen E BE; Matlack, Lauren E LE; Ly, Leilana L; Meurer, Jessica A JA; Hacohen, Nir N; Ryan, David P DP; Yeap, Beow Y BY; Corcoran, Ryan B RB; Greenbaum, Benjamin D BD; Ting, David T DT; Hong, Theodore S TS

Publication Date: 2021-11

Variant appearance in text: KMT2C: R909K

PubMed Link: 35122060

Variant Present in the following documents:

• NIHMS1740920-supplement-Supplementary_Tables.pdf

View BVdb publication page

---

Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)

Kim, Soon-Chan SC; Park, Ji Won JW; Seo, Ha-Young HY; Kim, Minjung M; Park, Jae-Hyeon JH; Kim, Ga-Hye GH; Lee, Ja Oh JO; Shin, Young-Kyoung YK; Bae, Jeong Mo JM; Koo, Bon-Kyoung BK; Jeong, Seung-Yong SY; Ku, Ja-Lok JL

Publication Date: 2022-02

Variant appearance in text: KMT2C: 2726G>A; R909K

PubMed Link: 34918496

Variant Present in the following documents:

• ADVS-9-2103360-s002.xlsx, sheet 2
• ADVS-9-2103360-s007.xlsx, sheet 2
• ADVS-9-2103360-s007.xlsx, sheet 3

View BVdb publication page

---

Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas.

Plos One

Cui, Ying Y; Kim, Hae-Suk HS; Cho, Eunae Sandra ES; Han, Dawool D; Park, Jung Ah JA; Park, Ju Yeong JY; Nam, Woong W; Kim, Hyung Jun HJ; Cha, In-Ho IH; Cha, Yong Hoon YH

Publication Date: 2021

Variant appearance in text: KMT2C: 2726G>A; R909K

PubMed Link: 34478472

Variant Present in the following documents:

• pone.0256979.s003.xlsx, sheet 1

View BVdb publication page

---

Establishment and Characterization of a Novel Human Ocular Adnexal Sebaceous Carcinoma Cell Line.

Translational Vision Science & Technology

Rong, Andrew J AJ; Gallo, Ryan A RA; Zhang, Michelle G MG; Doddapaneni, Ravi R; Griswold, Anthony J AJ; Lee, John Y JY; Kurtenbach, Stefan S; Dubovy, Sander R SR; Tse, David T DT; Pelaez, Daniel D

Publication Date: 2021-05-03

Variant appearance in text: KMT2C: R909K; rs199504848

PubMed Link: 34043754

Variant Present in the following documents:

• tvst-10-6-34_s001.xlsx, sheet 1

View BVdb publication page

---

First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Bmc Medical Genomics

Fu, Weijia W; Huang, Aijie A; Cheng, Hui H; Luo, Yanrong Y; Gao, Lei L; Tang, Gusheng G; Yang, Jianmin J; Wang, Jianmin J; Ni, Xiong X

Publication Date: 2021-05-17

Variant appearance in text: KMT2C: R909K; rs199504848

PubMed Link: 34001105

Variant Present in the following documents:

• 12920_2021_979_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: KMT2C: Arg909Lys; rs199504848

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications

Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ

Publication Date: 2021-02-10

Variant appearance in text: KMT2C: 2726G>A; Arg909Lys; rs199504848

PubMed Link: 33568653

Variant Present in the following documents:

• 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

---

Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Bmc Medical Genomics

Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C

Publication Date: 2020-11-30

Variant appearance in text: KMT2C: R909K

PubMed Link: 33256706

Variant Present in the following documents:

• 12920_2020_824_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Identification of Altered Genes in Gallbladder Cancer as Potential Driver Mutations for Diagnostic and Prognostic Purposes: A Computational Approach.

Cancer Informatics

D'Afonseca, Vívian V; Arencibia, Ariel D AD; Echeverría-Vega, Alex A; Cerpa, Leslie L; Cayún, Juan P JP; Varela, Nelson M NM; Salazar, Marcela M; Quiñones, Luis A LA

Publication Date: 2020

Variant appearance in text: KMT2C: R909K

PubMed Link: 32546937

Variant Present in the following documents:

• Main text
• 10.1177_1176935120922154.pdf

View BVdb publication page

---

Establishment and genomic characterization of gingivobuccal carcinoma cell lines with smokeless tobacco associated genetic alterations and oncogenic PIK3CA mutation.

Scientific Reports

Pansare, Kshama K; Gardi, Nilesh N; Kamat, Sayee S; Dange, Prerana P; Previn, Rahul R; Gera, Poonam P; Kowtal, Pradnya P; Amin, Kishore K; Sarin, Rajiv R

Publication Date: 2019-06-04

Variant appearance in text: KMT2C: R909K; rs199504848

PubMed Link: 31164688

Variant Present in the following documents:

• 41598_2019_44143_MOESM2_ESM.xls, sheet 1

View BVdb publication page

---

Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics

Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G

Publication Date: 2019-10

Variant appearance in text: KMT2C: 2726G>A; Arg909Lys

PubMed Link: 30981987

Variant Present in the following documents:

• jmedgenet-2018-105825supp002.xlsx, sheet 3

View BVdb publication page

---

A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: MLL3: R909K

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13

View BVdb publication page

---

Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs199504848

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

---

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: KMT2C: R909K; rs199504848

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

---

Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Oncotarget

Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C

Publication Date: 2017-11-24

Variant appearance in text: MLL3: R909K; rs199504848

PubMed Link: 29254223

Variant Present in the following documents:

• oncotarget-08-102033-s003.xlsx, sheet 1

View BVdb publication page

---

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: MLL3: 2726G>A; rs199504848

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s003.xlsx, sheet 1
• oncotarget-08-99237-s002.xlsx, sheet 1

View BVdb publication page

---

Colorectal Cancer Genetic Heterogeneity Delineated by Multi-Region Sequencing.

Plos One

Lu, You-Wang YW; Zhang, Hui-Feng HF; Liang, Rui R; Xie, Zhen-Rong ZR; Luo, Hua-You HY; Zeng, Yu-Jian YJ; Xu, Yu Y; Wang, La-Mei LM; Kong, Xiang-Yang XY; Wang, Kun-Hua KH

Publication Date: 2016

Variant appearance in text: KMT2C: R909K

PubMed Link: 27023146

Variant Present in the following documents:

• Main text
• pone.0152673.s002.xlsx, sheet 1
• pone.0152673.s002.xlsx, sheet 7
• pone.0152673.s002.xlsx, sheet 8
• pone.0152673.s002.xlsx, sheet 2
• pone.0152673.s002.xlsx, sheet 6
• pone.0152673.s002.xlsx, sheet 5
• pone.0152673.s002.xlsx, sheet 3
• pone.0152673.s002.xlsx, sheet 4
• pone.0152673.s002.xlsx, sheet 9
• pone.0152673.pdf

View BVdb publication page

---

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.

Plos One

Strom, Samuel P SP; Clark, Michael J MJ; Martinez, Ariadna A; Garcia, Sarah S; Abelazeem, Amira A AA; Matynia, Anna A; Parikh, Sachin S; Sullivan, Lori S LS; Bowne, Sara J SJ; Daiger, Stephen P SP; Gorin, Michael B MB

Publication Date: 2016

Variant appearance in text: MLL3: R909K

PubMed Link: 26964041

Variant Present in the following documents:

• pone.0150944.s002.xls, sheet 1

View BVdb publication page

---

Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.

Plos One

Olsson, Eleonor E; Winter, Christof C; George, Anthony A; Chen, Yilun Y; Törngren, Therese T; Bendahl, Pär-Ola PO; Borg, Åke Å; Gruvberger-Saal, Sofia K SK; Saal, Lao H LH

Publication Date: 2015

Variant appearance in text: MLL3: R909K; rs199504848

PubMed Link: 26670335

Variant Present in the following documents:

• pone.0144528.s005.xlsx, sheet 1

View BVdb publication page

---

Integrated genomic analyses identify frequent gene fusion events and VHL inactivation in gastrointestinal stromal tumors.

Oncotarget

Kang, Guhyun G; Yun, Hongseok H; Sun, Choong-Hyun CH; Park, Inho I; Lee, Seungmook S; Kwon, Jekeun J; Do, Ingu I; Hong, Min Eui ME; Van Vrancken, Michael M; Lee, Jeeyun J; Park, Joon Oh JO; Cho, Jeonghee J; Kim, Kyoung-Mee KM; Sohn, Tae Sung TS

Publication Date: 2016-02-09

Variant appearance in text: MLL3: R909K

PubMed Link: 25987131

Variant Present in the following documents:

• oncotarget-07-6538-s001.pdf

View BVdb publication page

---

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.

Plos One

Pippucci, Tommaso T; Parmeggiani, Antonia A; Palombo, Flavia F; Maresca, Alessandra A; Angius, Andrea A; Crisponi, Laura L; Cucca, Francesco F; Liguori, Rocco R; Valentino, Maria Lucia ML; Seri, Marco M; Carelli, Valerio V

Publication Date: 2013

Variant appearance in text: MLL3: 2726G>A; rs199504848

PubMed Link: 24358150

Variant Present in the following documents:

• pone.0082154.s002.xls, sheet 1

View BVdb publication page

---