Publications:

Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma.

Nature Communications

Sun, Guangxi G; Chen, Junru J; Liang, Jiayu J; Yin, Xiaoxue X; Zhang, Mengni M; Yao, Jin J; He, Ning N; Armstrong, Cameron M CM; Zheng, Linmao L; Zhang, Xingming X; Zhu, Sha S; Sun, Xiaomeng X; Yang, Xiaoxia X; Zhao, Wanbin W; Liao, Banghua B; Pan, Xiuyi X; Nie, Ling L; Yang, Ling L; Chen, Yuntian Y; Zhao, Jinge J; Zhang, Haoran H; Dai, Jindong J; Shen, Yali Y; Liu, Jiyan J; Huang, Rui R; Liu, Jiandong J; Wang, Zhipeng Z; Ni, Yuchao Y; Wei, Qiang Q; Li, Xiang X; Zhou, Qiao Q; Huang, Haojie H; Liu, Zhenhua Z; Shen, Pengfei P; Chen, Ni N; Zeng, Hao H

Publication Date: 2021-09-06

Variant appearance in text: TTN: 96697C>T; R32233*

PubMed Link: 34489456

Variant Present in the following documents:

• 41467_2021_25618_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.

Bmc Cardiovascular Disorders

Hathaway, Julie J; Heliö, Krista K; Saarinen, Inka I; Tallila, Jonna J; Seppälä, Eija H EH; Tuupanen, Sari S; Turpeinen, Hannu H; Kangas-Kontio, Tiia T; Schleit, Jennifer J; Tommiska, Johanna J; Kytölä, Ville V; Valori, Miko M; Muona, Mikko M; Sistonen, Johanna J; Gentile, Massimiliano M; Salmenperä, Pertteli P; Myllykangas, Samuel S; Paananen, Jussi J; Alastalo, Tero-Pekka TP; Heliö, Tiina T; Koskenvuo, Juha J

Publication Date: 2021-03-05

Variant appearance in text: TTN: 96697C>T; Arg32233*

PubMed Link: 33673806

Variant Present in the following documents:

• 12872_2021_1927_MOESM2_ESM.xlsx, sheet 1

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Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.

European Journal Of Neurology

Krenn, M M; Tomschik, M M; Rath, J J; Cetin, H H; Grisold, A A; Zulehner, G G; Milenkovic, I I; Stogmann, E E; Zimprich, A A; Strom, T M TM; Meitinger, T T; Wagner, M M; Zimprich, F F

Publication Date: 2020-01

Variant appearance in text: TTN: 96697C>T

PubMed Link: 31407473

Variant Present in the following documents:

• Main text
• ENE-27-51.pdf

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Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports

Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; Brünner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L

Publication Date: 2017-11-10

Variant appearance in text: TTN: 96697C>T; R32233*

PubMed Link: 29127303

Variant Present in the following documents:

• 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: TTN: 96697C>T; Arg32233*

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

View BVdb publication page