Publications:

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Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction.

Nature Genetics

Miyazawa, Kazuo K; Ito, Kaoru K; Ito, Masamichi M; Zou, Zhaonan Z; Kubota, Masayuki M; Nomura, Seitaro S; Matsunaga, Hiroshi H; Koyama, Satoshi S; Ieki, Hirotaka H; Akiyama, Masato M; Koike, Yoshinao Y; Kurosawa, Ryo R; Yoshida, Hiroki H; Ozaki, Kouichi K; Onouchi, Yoshihiro Y; , ; Takahashi, Atsushi A; Matsuda, Koichi K; Murakami, Yoshinori Y; Aburatani, Hiroyuki H; Kubo, Michiaki M; Momozawa, Yukihide Y; Terao, Chikashi C; Oki, Shinya S; Akazawa, Hiroshi H; Kamatani, Yoichiro Y; Komuro, Issei I

Publication Date: 2023-01-19

Variant appearance in text: TTN: R25529H

PubMed Link: 36653681

Variant Present in the following documents:

• 41588_2022_1284_MOESM4_ESM.xlsx, sheet 5

View BVdb publication page

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Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology

Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC

Publication Date: 2021

Variant appearance in text: TTN: R25529H

PubMed Link: 34858801

Variant Present in the following documents:

• Table_1.xls, sheet 1
• Table_2.xlsx, sheet 1
• Table_1.xls, sheet 4
• Table_1.xls, sheet 5

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: TTN: R25529H

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 11
• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 6
• mmc2.xlsx, sheet 9

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: TTN: R25529H

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 9
• mmc2.xlsx, sheet 6
• mmc2.xlsx, sheet 3
• mmc2.xlsx, sheet 11

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: TTN: R25529H

PubMed Link: 34001105

Variant Present in the following documents:

• 12920_2021_979_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: TTN: R25529H

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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A synergetic effect of BARD1 mutations on tumorigenesis.

Nature Communications

Li, Wenjing W; Gu, Xiaoyang X; Liu, Chunhong C; Shi, Yanyan Y; Wang, Pan P; Zhang, Na N; Wu, Rui R; Leng, Liang L; Xie, Bingteng B; Song, Chen C; Li, Mo M

Publication Date: 2021-02-23

Variant appearance in text: TTN: R25529H

PubMed Link: 33623049

Variant Present in the following documents:

• 41467_2021_21519_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: TTN: R25529H

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Sequence variants with large effects on cardiac electrophysiology and disease.

Nature Communications

Norland, Kristjan K; Sveinbjornsson, Gardar G; Thorolfsdottir, Rosa B RB; Davidsson, Olafur B OB; Tragante, Vinicius V; Rajamani, Sridharan S; Helgadottir, Anna A; Gretarsdottir, Solveig S; van Setten, Jessica J; Asselbergs, Folkert W FW; Sverrisson, Jon Th JT; Stephensen, Sigurdur S SS; Oskarsson, Gylfi G; Sigurdsson, Emil L EL; Andersen, Karl K; Danielsen, Ragnar R; Thorgeirsson, Gudmundur G; Thorsteinsdottir, Unnur U; Arnar, David O DO; Sulem, Patrick P; Holm, Hilma H; Gudbjartsson, Daniel F DF; Stefansson, Kari K

Publication Date: 2019-10-22

Variant appearance in text: TTN: Arg25529His

PubMed Link: 31641117

Variant Present in the following documents:

• 41467_2019_12682_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: TTN: R25529H

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

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: TTN: R25529H

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Early somatic mosaicism is a rare cause of long-QT syndrome.

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

Priest, James Rush JR; Gawad, Charles C; Kahlig, Kristopher M KM; Yu, Joseph K JK; O'Hara, Thomas T; Boyle, Patrick M PM; Rajamani, Sridharan S; Clark, Michael J MJ; Garcia, Sarah T K ST; Ceresnak, Scott S; Harris, Jason J; Boyle, Sean S; Dewey, Frederick E FE; Malloy-Walton, Lindsey L; Dunn, Kyla K; Grove, Megan M; Perez, Marco V MV; Neff, Norma F NF; Chen, Richard R; Maeda, Katsuhide K; Dubin, Anne A; Belardinelli, Luiz L; West, John J; Antolik, Christian C; Macaya, Daniela D; Quertermous, Thomas T; Trayanova, Natalia A NA; Quake, Stephen R SR; Ashley, Euan A EA

Publication Date: 2016-10-11

Variant appearance in text: TTN: R25529H

PubMed Link: 27681629

Variant Present in the following documents:

• Main text

View BVdb publication page

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Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology

Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R

Publication Date: 2016-11

Variant appearance in text: TTN: R25529H

PubMed Link: 27512948

Variant Present in the following documents:

• PATH-240-315-s015.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: TTN: R25529H

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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