Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: rs1800956

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: ENG: D366N; rs1800956

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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TNFRSF13B c.226G>A (p.Gly76Ser) as a Novel Causative Mutation for Pulmonary Arterial Hypertension.

Journal Of The American Heart Association

Shinya, Yoshiki Y; Hiraide, Takahiro T; Momoi, Mizuki M; Goto, Shinichi S; Suzuki, Hisato H; Katsumata, Yoshinori Y; Kurebayashi, Yutaka Y; Endo, Jin J; Sano, Motoaki M; Fukuda, Keiichi K; Kosaki, Kenjiro K; Kataoka, Masaharu M

Publication Date: 2021-02

Variant appearance in text: rs1800956

PubMed Link: 33586470

Variant Present in the following documents:

• Main text
• JAH3-10-e019245.pdf

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Role of activin receptor-like kinase 1 in vascular development and cerebrovascular diseases.

Neural Regeneration Research

Hong, Jun-Mou JM; Hu, Yi-Da YD; Chai, Xiao-Qing XQ; Tang, Chao-Liang CL

Publication Date: 2020-10

Variant appearance in text: rs1800956

PubMed Link: 32246621

Variant Present in the following documents:

• Main text
• NRR-15-1807.pdf

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1800956

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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High Frequency of Pulmonary Hypertension-Causing Gene Mutation in Chinese Patients with Chronic Thromboembolic Pulmonary Hypertension.

Plos One

Xi, Qunying Q; Liu, Zhihong Z; Zhao, Zhihui Z; Luo, Qin Q; Huang, Zhiwei Z

Publication Date: 2016

Variant appearance in text: rs1800956

PubMed Link: 26820968

Variant Present in the following documents:

• Main text

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Role of Endoglin Insertion and rs1800956 Polymorphisms in Intracranial Aneurysm Susceptibility: A Meta-Analysis.

Medicine

Hu, Xin X; Fang, Yuan Y; Li, Yun-Ke YK; Liu, Wen-Ke WK; Li, Hao H; Ma, Lu L; You, Chao C

Publication Date: 2015-11

Variant appearance in text: rs1800956

PubMed Link: 26559253

Variant Present in the following documents:

• Main text
• medi-94-e1847.pdf

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs1800956

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

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Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm.

Stroke

Santiago-Sim, Teresa T; Mathew-Joseph, Sumy S; Pannu, Hariyadarshi H; Milewicz, Dianna M DM; Seidman, Christine E CE; Seidman, J G JG; Kim, Dong H DH

Publication Date: 2009-05

Variant appearance in text: rs1800956

PubMed Link: 19299629

Variant Present in the following documents:

• Main text

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Functional nsSNPs from carcinogenesis-related genes expressed in breast tissue: potential breast cancer risk alleles and their distribution across human populations.

Human Genomics

Savas, Sevtap S; Schmidt, Steffen S; Jarjanazi, Hamdi H; Ozcelik, Hilmi H

Publication Date: 2006-03

Variant appearance in text: rs1800956

PubMed Link: 16595073

Variant Present in the following documents:

• Main text
• 1479-7364-2-5-287.pdf

View BVdb publication page

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