Publications:

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Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: KMT2C: C988F

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

---

Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: KMT2C: C988F; rs28522267

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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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: C988F

PubMed Link: 36928921

Variant Present in the following documents:

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

View BVdb publication page

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Application value of whole exome sequencing in screening and identifying novel mutations of hypopharyngeal cancer.

Scientific Reports

Yao, Jingwei J; Ding, Yubo Y; Liu, Xiong X; Huang, Jialu J; Zhang, Minghui M; Zhang, Yu Y; Lv, Yufan Y; Xie, Zhuoyi Z; Zuo, Jianhong J

Publication Date: 2023-01-03

Variant appearance in text: rs28522267

PubMed Link: 36596842

Variant Present in the following documents:

• Main text
• 41598_2022_Article_27273.pdf

View BVdb publication page

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs28522267

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: KMT2C: C988F

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 1
• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

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

Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C

Publication Date: 2022-10-21

Variant appearance in text: KMT2C: 2963G>T; Cys988Phe; rs28522267

PubMed Link: 36269797

Variant Present in the following documents:

• ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1

View BVdb publication page

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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: 2963G>T

PubMed Link: 35697931

Variant Present in the following documents:

• 41379_2022_1112_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

---

Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Acta Neuropathologica Communications

Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N

Publication Date: 2022-03-04

Variant appearance in text: KMT2C: C988F; rs28522267

PubMed Link: 35246273

Variant Present in the following documents:

• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Effective Menin inhibitor-based combinations against AML with MLL rearrangement or NPM1 mutation (NPM1c).

Blood Cancer Journal

Fiskus, Warren W; Boettcher, Steffen S; Daver, Naval N; Mill, Christopher P CP; Sasaki, Koji K; Birdwell, Christine E CE; Davis, John A JA; Takahashi, Koichi K; Kadia, Tapan M TM; DiNardo, Courtney D CD; Jin, Qi Q; Qi, Yuan Y; Su, Xiaoping X; McGeehan, Gerard M GM; Khoury, Joseph D JD; Ebert, Benjamin L BL; Bhalla, Kapil N KN

Publication Date: 2022-01-11

Variant appearance in text: KMT2C: C988F

PubMed Link: 35017466

Variant Present in the following documents:

• 41408_2021_603_MOESM1_ESM.pdf

View BVdb publication page

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Effective Menin inhibitor-based combinations against AML with MLL rearrangement or NPM1 mutation (NPM1c).

Blood Cancer Journal

Fiskus, Warren W; Boettcher, Steffen S; Daver, Naval N; Mill, Christopher P CP; Sasaki, Koji K; Birdwell, Christine E CE; Davis, John A JA; Takahashi, Koichi K; Kadia, Tapan M TM; DiNardo, Courtney D CD; Jin, Qi Q; Qi, Yuan Y; Su, Xiaoping X; McGeehan, Gerard M GM; Khoury, Joseph D JD; Ebert, Benjamin L BL; Bhalla, Kapil N KN

Publication Date: 2022-01-11

Variant appearance in text: KMT2C: C988F

PubMed Link: 35017466

Variant Present in the following documents:

• 41408_2021_603_MOESM1_ESM.pdf

View BVdb publication page

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Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

Signal Transduction And Targeted Therapy

Chen, Min M; Yao, Chencheng C; Qin, Yingying Y; Cui, Xiuhong X; Li, Peng P; Ji, Zhiyong Z; Lin, Limei L; Wu, Haowei H; Zhou, Zhi Z; Gui, Yaoting Y; Li, Zheng Z; Gao, Fei F

Publication Date: 2022-01-03

Variant appearance in text: KMT2C: 2963G>T; Cys988Phe; rs28522267

PubMed Link: 34980881

Variant Present in the following documents:

• 41392_2021_710_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.

Signal Transduction And Targeted Therapy

Chen, Min M; Yao, Chencheng C; Qin, Yingying Y; Cui, Xiuhong X; Li, Peng P; Ji, Zhiyong Z; Lin, Limei L; Wu, Haowei H; Zhou, Zhi Z; Gui, Yaoting Y; Li, Zheng Z; Gao, Fei F

Publication Date: 2022-01-03

Variant appearance in text: KMT2C: 2963G>T; Cys988Phe; rs28522267

PubMed Link: 34980881

Variant Present in the following documents:

• 41392_2021_710_MOESM2_ESM.xlsx, sheet 1

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: 2963G>T; Cys988Phe

PubMed Link: 34918496

Variant Present in the following documents:

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

View BVdb publication page

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Proteomics reveal cap-dependent translation inhibitors remodel the translation machinery and translatome.

Cell Reports

Ho, J J David JJD; Cunningham, Tyler A TA; Manara, Paola P; Coughlin, Caroline A CA; Arumov, Artavazd A; Roberts, Evan R ER; Osteen, Ashanti A; Kumar, Preet P; Bilbao, Daniel D; Krieger, Jonathan R JR; Lee, Stephen S; Schatz, Jonathan H JH

Publication Date: 2021-10-12

Variant appearance in text: MLL3: 2963G>T

PubMed Link: 34644561

Variant Present in the following documents:

• NIHMS1747906-supplement-3.xlsx, sheet 2

View BVdb publication page

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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: 2963G>T; C988F

PubMed Link: 34478472

Variant Present in the following documents:

• pone.0256979.s003.xlsx, sheet 1

View BVdb publication page

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The Gain-of-Function p53 R248W Mutant Promotes Migration by STAT3 Deregulation in Human Pancreatic Cancer Cells.

Frontiers In Oncology

Klemke, Luisa L; Fehlau, Clara F CF; Winkler, Nadine N; Toboll, Felicia F; Singh, Shiv K SK; Moll, Ute M UM; Schulz-Heddergott, Ramona R

Publication Date: 2021

Variant appearance in text: KMT2C: 2963G>T; Cys988Phe; rs28522267

PubMed Link: 34178628

Variant Present in the following documents:

• DataSheet_1.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: KMT2C: 2963G>T; C988F; rs28522267

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: KMT2C: 2963G>T; Cys988Phe; rs28522267

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

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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: C988F; rs28522267

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: C988F; rs28522267

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: 2963G>T; C988F; rs28522267

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: Cys988Phe

PubMed Link: 33256706

Variant Present in the following documents:

• 12920_2020_824_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: KMT2C: C988F; rs28522267

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: KMT2C: 2963G>T; C988F; rs28522267

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

Bmc Medical Genomics

Wünsch, Christian C; Banck, Henrik H; Müller-Tidow, Carsten C; Dugas, Martin M

Publication Date: 2020-02-04

Variant appearance in text: KMT2C: 2963G>T; C988F; rs28522267

PubMed Link: 32019565

Variant Present in the following documents:

• 12920_2020_668_MOESM7_ESM.xls, sheet 1
• 12920_2020_668_MOESM8_ESM.xls, sheet 1

View BVdb publication page

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YAP1 mediates survival of ALK-rearranged lung cancer cells treated with alectinib via pro-apoptotic protein regulation.

Nature Communications

Tsuji, Takahiro T; Ozasa, Hiroaki H; Aoki, Wataru W; Aburaya, Shunsuke S; Yamamoto Funazo, Tomoko T; Furugaki, Koh K; Yoshimura, Yasushi Y; Yamazoe, Masatoshi M; Ajimizu, Hitomi H; Yasuda, Yuto Y; Nomizo, Takashi T; Yoshida, Hironori H; Sakamori, Yuichi Y; Wake, Hiroaki H; Ueda, Mitsuyoshi M; Kim, Young Hak YH; Hirai, Toyohiro T

Publication Date: 2020-01-03

Variant appearance in text: KMT2C: C988F

PubMed Link: 31900393

Variant Present in the following documents:

• 41467_2019_13771_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design.

Cell Reports

Rokita, Jo Lynne JL; Rathi, Komal S KS; Cardenas, Maria F MF; Upton, Kristen A KA; Jayaseelan, Joy J; Cross, Katherine L KL; Pfeil, Jacob J; Egolf, Laura E LE; Way, Gregory P GP; Farrel, Alvin A; Kendsersky, Nathan M NM; Patel, Khushbu K; Gaonkar, Krutika S KS; Modi, Apexa A; Berko, Esther R ER; Lopez, Gonzalo G; Vaksman, Zalman Z; Mayoh, Chelsea C; Nance, Jonas J; McCoy, Kristyn K; Haber, Michelle M; Evans, Kathryn K; McCalmont, Hannah H; Bendak, Katerina K; Böhm, Julia W JW; Marshall, Glenn M GM; Tyrrell, Vanessa V; Kalletla, Karthik K; Braun, Frank K FK; Qi, Lin L; Du, Yunchen Y; Zhang, Huiyuan H; Lindsay, Holly B HB; Zhao, Sibo S; Shu, Jack J; Baxter, Patricia P; Morton, Christopher C; Kurmashev, Dias D; Zheng, Siyuan S; Chen, Yidong Y; Bowen, Jay J; Bryan, Anthony C AC; Leraas, Kristen M KM; Coppens, Sara E SE; Doddapaneni, HarshaVardhan H; Momin, Zeineen Z; Zhang, Wendong W; Sacks, Gregory I GI; Hart, Lori S LS; Krytska, Kateryna K; Mosse, Yael P YP; Gatto, Gregory J GJ; Sanchez, Yolanda Y; Greene, Casey S CS; Diskin, Sharon J SJ; Vaske, Olena Morozova OM; Haussler, David D; Gastier-Foster, Julie M JM; Kolb, E Anders EA; Gorlick, Richard R; Li, Xiao-Nan XN; Reynolds, C Patrick CP; Kurmasheva, Raushan T RT; Houghton, Peter J PJ; Smith, Malcolm A MA; Lock, Richard B RB; Raman, Pichai P; Wheeler, David A DA; Maris, John M JM

Publication Date: 2019-11-05

Variant appearance in text: KMT2C: C988F

PubMed Link: 31693904

Variant Present in the following documents:

• Main text
• nihms-1542708.pdf

View BVdb publication page

---

PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: KMT2C: 2963G>T; Cys988Phe; rs28522267

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

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: C988F; rs28522267

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: 2963G>T; Cys988Phe

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: C988F; rs28522267

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13

View BVdb publication page

---

Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One

Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD

Publication Date: 2019

Variant appearance in text: MLL3: 2963G>T

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 19
• pone.0210079.s007.xlsx, sheet 18
• pone.0210079.s007.xlsx, sheet 21
• pone.0210079.s007.xlsx, sheet 4
• pone.0210079.s007.xlsx, sheet 20

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: MLL3: C988F; rs28522267

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: KMT2C: 2963G>T; Cys988Phe; rs28522267

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s7.xlsx, sheet 3

View BVdb publication page

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Targetable vulnerabilities in T- and NK-cell lymphomas identified through preclinical models.

Nature Communications

Ng, Samuel Y SY; Yoshida, Noriaki N; Christie, Amanda L AL; Ghandi, Mahmoud M; Dharia, Neekesh V NV; Dempster, Joshua J; Murakami, Mark M; Shigemori, Kay K; Morrow, Sara N SN; Van Scoyk, Alexandria A; Cordero, Nicolas A NA; Stevenson, Kristen E KE; Puligandla, Maneka M; Haas, Brian B; Lo, Christopher C; Meyers, Robin R; Gao, Galen G; Cherniack, Andrew A; Louissaint, Abner A; Nardi, Valentina V; Thorner, Aaron R AR; Long, Henry H; Qiu, Xintao X; Morgan, Elizabeth A EA; Dorfman, David M DM; Fiore, Danilo D; Jang, Julie J; Epstein, Alan L AL; Dogan, Ahmet A; Zhang, Yanming Y; Horwitz, Steven M SM; Jacobsen, Eric D ED; Santiago, Solimar S; Ren, Jian-Guo JG; Guerlavais, Vincent V; Annis, D Allen DA; Aivado, Manuel M; Saleh, Mansoor N MN; Mehta, Amitkumar A; Tsherniak, Aviad A; Root, David D; Vazquez, Francisca F; Hahn, William C WC; Inghirami, Giorgio G; Aster, Jon C JC; Weinstock, David M DM; Koch, Raphael R

Publication Date: 2018-05-22

Variant appearance in text: MLL3: C988F; rs28522267

PubMed Link: 29789628

Variant Present in the following documents:

• 41467_2018_4356_MOESM12_ESM.xlsx, sheet 1
• 41467_2018_4356_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

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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: C988F; rs28522267

PubMed Link: 29254223

Variant Present in the following documents:

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

View BVdb publication page

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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: 2963G>T; rs28522267

PubMed Link: 29245897

Variant Present in the following documents:

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

View BVdb publication page

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Whole-exome analysis in osteosarcoma to identify a personalized therapy.

Oncotarget

Chiappetta, Caterina C; Mancini, Massimiliano M; Lessi, Francesca F; Aretini, Paolo P; De Gregorio, Veronica V; Puggioni, Chiara C; Carletti, Raffaella R; Petrozza, Vincenzo V; Civita, Prospero P; Franceschi, Sara S; Naccarato, Antonio G AG; Rocca, Carlo Della CD; Mazzanti, Chiara M CM; Di Cristofano, Claudio C

Publication Date: 2017-10-06

Variant appearance in text: KMT2C: 2963G>T; Cys988Phe

PubMed Link: 29113313

Variant Present in the following documents:

• Main text
• oncotarget-08-80416.pdf

View BVdb publication page

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Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca2+-binding protein 4 (CABP4) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy.

Oncotarget

Chen, Zhi-Hong ZH; Wang, Chun C; Zhuo, Mu-Qing MQ; Zhai, Qiong-Xiang QX; Chen, Qian Q; Guo, Yu-Xiong YX; Zhang, Yu-Xin YX; Gui, Juan J; Tang, Zhi-Hong ZH; Zeng, Xiao-Lu XL

Publication Date: 2017-10-03

Variant appearance in text: MLL3: C988F

PubMed Link: 29108277

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sacral agenesis: a pilot whole exome sequencing and copy number study.

Bmc Medical Genetics

Porsch, Robert M RM; Merello, Elisa E; De Marco, Patrizia P; Cheng, Guo G; Rodriguez, Laura L; So, Manting M; Sham, Pak C PC; Tam, Paul K PK; Capra, Valeria V; Cherny, Stacey S SS; Garcia-Barcelo, Maria-Mercè MM; Campbell, Desmond D DD

Publication Date: 2016-12-22

Variant appearance in text: KMT2C: 2963G>T; C988F; rs28522267

PubMed Link: 28007035

Variant Present in the following documents:

• 12881_2016_359_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Single-strand DNA library preparation improves sequencing of formalin-fixed and paraffin-embedded (FFPE) cancer DNA.

Oncotarget

Stiller, Mathias M; Sucker, Antje A; Griewank, Klaus K; Aust, Daniela D; Baretton, Gustavo Bruno GB; Schadendorf, Dirk D; Horn, Susanne S

Publication Date: 2016-09-13

Variant appearance in text: KMT2C: C988F

PubMed Link: 27463017

Variant Present in the following documents:

• Main text

View BVdb publication page

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Elucidating the cancer-specific genetic alteration spectrum of glioblastoma derived cell lines from whole exome and RNA sequencing.

Oncotarget

Patil, Vikas V; Pal, Jagriti J; Somasundaram, Kumaravel K

Publication Date: 2015-12-22

Variant appearance in text: MLL3: C988F

PubMed Link: 26496030

Variant Present in the following documents:

• Main text
• oncotarget-06-43452-s003.xlsx, sheet 1
• oncotarget-06-43452.pdf
• oncotarget-06-43452-s005.xlsx, sheet 1

View BVdb publication page

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BRAF alteration status and the histone H3F3A gene K27M mutation segregate spinal cord astrocytoma histology.

Acta Neuropathologica

Shankar, Ganesh M GM; Lelic, Nina N; Gill, Corey M CM; Thorner, Aaron R AR; Van Hummelen, Paul P; Wisoff, Jeffrey H JH; Loeffler, Jay S JS; Brastianos, Priscilla K PK; Shin, John H JH; Borges, Lawrence F LF; Butler, William E WE; Zagzag, David D; Brody, Rachel I RI; Duhaime, Ann-Christine AC; Taylor, Michael D MD; Hawkins, Cynthia E CE; Louis, David N DN; Cahill, Daniel P DP; Curry, William T WT; Meyerson, Matthew M

Publication Date: 2016-01

Variant appearance in text: MLL3: 2963G>T; rs28522267

PubMed Link: 26487540

Variant Present in the following documents:

• 401_2015_1492_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: MLL3: C988F; rs28522267

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: MLL3: C988F; rs28522267

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: MLL3: 2963G>T; rs28522267

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: KMT2C: C988F

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Oncotarget

Abedalthagafi, Malak S MS; Merrill, Parker H PH; Bi, Wenya Linda WL; Jones, Robert T RT; Listewnik, Marc L ML; Ramkissoon, Shakti H SH; Thorner, Aaron R AR; Dunn, Ian F IF; Beroukhim, Rameen R; Alexander, Brian M BM; Brastianos, Priscilla K PK; Francis, Joshua M JM; Folkerth, Rebecca D RD; Ligon, Keith L KL; Van Hummelen, Paul P; Ligon, Azra H AH; Santagata, Sandro S

Publication Date: 2014-11-15

Variant appearance in text: MLL3: 2963G>T; rs28522267

PubMed Link: 25347344

Variant Present in the following documents:

• oncotarget-05-10596-s002.xlsx, sheet 4

View BVdb publication page

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Mutation and expression analysis in medulloblastoma yields prognostic variants and a putative mechanism of disease for i17q tumors.

Acta Neuropathologica Communications

Bien-Willner, Gabriel A GA; Mitra, Robi D RD

Publication Date: 2014-07-17

Variant appearance in text: MLL3: C988F

PubMed Link: 25030029

Variant Present in the following documents:

• 40478_2014_74_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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