Publications:

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Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: e-Posters.

European Journal Of Human Genetics : Ejhg

Publication Date: 2020-12

Variant appearance in text: FBN1: 698G>A; Arg233His

PubMed Link: 33262486

Variant Present in the following documents:

• Main text

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: FBN1: 698G>A; Arg233His; rs770140872

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Gene panel for Mendelian strokes.

Stroke And Vascular Neurology

Fang, Fang F; Xu, Zhe Z; Suo, Yue Y; Wang, Hui H; Cheng, Si S; Li, Hao H; Li, Wei W; Wang, Yongjun Y

Publication Date: 2020-12

Variant appearance in text: FBN1: 698G>A; R233H

PubMed Link: 32341005

Variant Present in the following documents:

• svn-2020-000352supp003.pdf

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NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene

Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S

Publication Date: 2020-04

Variant appearance in text: FBN1: 698G>A; R233H

PubMed Link: 32055024

Variant Present in the following documents:

• 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: FBN1: R233H

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1
• emm2017142x5.xls, sheet 1

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Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Plos One

Sanchez, Olallo O; Campuzano, Oscar O; Fernández-Falgueras, Anna A; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Mademont, Irene I; Mates, Jesus J; Pérez-Serra, Alexandra A; Coll, Monica M; Pico, Ferran F; Iglesias, Anna A; Tirón, Coloma C; Allegue, Catarina C; Carro, Esther E; Gallego, María Ángeles MÁ; Ferrer-Costa, Carles C; Hospital, Anna A; Bardalet, Narcís N; Borondo, Juan Carlos JC; Vingut, Albert A; Arbelo, Elena E; Brugada, Josep J; Castellà, Josep J; Medallo, Jordi J; Brugada, Ramon R

Publication Date: 2016

Variant appearance in text: FBN1: 698G>A; R233H; rs770140872

PubMed Link: 27930701

Variant Present in the following documents:

• Main text
• pone.0167358.pdf

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Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD.

Scientific Reports

Guo, Jun J; Cai, Lun L; Jia, Lixin L; Li, Xiaoyan X; Xi, Xin X; Zheng, Shuai S; Liu, Xuxia X; Piao, Chunmei C; Liu, Tingting T; Sun, Zhongsheng Z; Cai, Tao T; Du, Jie J

Publication Date: 2015-08-14

Variant appearance in text: FBN1: 698G>A; Arg233His

PubMed Link: 26272055

Variant Present in the following documents:

• Main text
• srep13115.pdf

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