Publications:

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Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.

Frontiers In Oncology

He, Ping P; Liu, Jie J; Xu, Qingyuan Q; Ma, Huaijun H; Niu, Beifang B; Huang, Gang G; Wu, Wei W

Publication Date: 2023

Variant appearance in text: NOTCH1: 5422G>A; D1808N; rs571739078

PubMed Link: 36910641

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 8

View BVdb publication page

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Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

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

Cheng, Wen-Yan WY; Li, Jian-Feng JF; Zhu, Yong-Mei YM; Lin, Xiang-Jie XJ; Wen, Li-Jun LJ; Zhang, Fan F; Zhang, Yu-Liang YL; Zhao, Ming M; Fang, Hai H; Wang, Sheng-Yue SY; Lin, Xiao-Jing XJ; Qiao, Niu N; Yin, Wei W; Zhang, Jia-Nan JN; Dai, Yu-Ting YT; Jiang, Lu L; Sun, Xiao-Jian XJ; Xu, Yi Y; Zhang, Tong-Tong TT; Chen, Su-Ning SN; Zhu, Hong-Hu HH; Chen, Zhu Z; Jin, Jie J; Wu, De-Pei DP; Shen, Yang Y; Chen, Sai-Juan SJ

Publication Date: 2022-12-06

Variant appearance in text: NOTCH1: 5422G>A; D1808N

PubMed Link: 36442087

Variant Present in the following documents:

• pnas.2211429119.sd02.xlsx, sheet 1

View BVdb publication page

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Whole Exome Sequencing of Patients With Heritable and Idiopathic Pulmonary Arterial Hypertension in Central Taiwan.

Frontiers In Cardiovascular Medicine

Liang, Kae-Woei KW; Chang, Sheng-Kai SK; Chen, Yu-Wei YW; Lin, Wei-Wen WW; Tsai, Wan-Jane WJ; Wang, Kuo-Yang KY

Publication Date: 2022

Variant appearance in text: NOTCH1: 5422G>A; Asp1808Asn

PubMed Link: 35811711

Variant Present in the following documents:

• Main text
• fcvm-09-911649.pdf

View BVdb publication page

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Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine

Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z

Publication Date: 2022-07

Variant appearance in text: NOTCH1: 5422G>A; D1808N; rs571739078

PubMed Link: 35665681

Variant Present in the following documents:

• mmc26.xlsx, sheet 1

View BVdb publication page

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CD8+ cell somatic mutations in multiple sclerosis patients and controls-Enrichment of mutations in STAT3 and other genes implicated in hematological malignancies.

Plos One

Valori, Miko M; Jansson, Lilja L; Tienari, Pentti J PJ

Publication Date: 2021

Variant appearance in text: NOTCH1: D1808N; rs571739078

PubMed Link: 34874980

Variant Present in the following documents:

• pone.0261002.s008.xlsx, sheet 1

View BVdb publication page

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CD8+ cell somatic mutations in multiple sclerosis patients and controls-Enrichment of mutations in STAT3 and other genes implicated in hematological malignancies.

Plos One

Valori, Miko M; Jansson, Lilja L; Tienari, Pentti J PJ

Publication Date: 2021

Variant appearance in text: NOTCH1: D1808N; rs571739078

PubMed Link: 34874980

Variant Present in the following documents:

• pone.0261002.s008.xlsx, sheet 1

View BVdb publication page

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Whole Exome Sequencing in Patients with Phenotypically Associated Familial Intracranial Aneurysm.

Korean Journal Of Radiology

Song, Yunsun Y; Lee, Jong-Keuk JK; Lee, Jin-Ok JO; Kwon, Boseong B; Seo, Eul-Ju EJ; Suh, Dae Chul DC

Publication Date: 2021-10-01

Variant appearance in text: NOTCH1: 5422G>A; Asp1808Asn; rs571739078

PubMed Link: 34668355

Variant Present in the following documents:

• Main text
• kjr-23-101.pdf

View BVdb publication page

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Whole Exome Sequencing in Patients with Phenotypically Associated Familial Intracranial Aneurysm.

Korean Journal Of Radiology

Song, Yunsun Y; Lee, Jong-Keuk JK; Lee, Jin-Ok JO; Kwon, Boseong B; Seo, Eul-Ju EJ; Suh, Dae Chul DC

Publication Date: 2022-01

Variant appearance in text: NOTCH1: 5422G>A; Asp1808Asn; rs571739078

PubMed Link: 34668355

Variant Present in the following documents:

• Main text
• kjr-23-101.pdf

View BVdb publication page

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Targeted deep sequencing from multiple sources demonstrates increased NOTCH1 alterations in lung cancer patient plasma.

Cancer Medicine

Liao, Yuwei Y; Ma, Zhaokui Z; Zhang, Yu Y; Li, Dan D; Lv, Dekang D; Chen, Zhisheng Z; Li, Peiying P; Ai-Dherasi, Aisha A; Zheng, Feng F; Tian, Jichao J; Zou, Kun K; Wang, Yue Y; Wang, Dongxia D; Cordova, Miguel M; Zhou, Huan H; Li, Xiuhua X; Liu, Dan D; Yu, Ruofei R; Zhang, Qingzheng Q; Zhang, Xiaolong X; Zhang, Jian J; Zhang, Xuehong X; Zhang, Xia X; Li, Yulong Y; Shao, Yanyan Y; Song, Luyao L; Liu, Ruimei R; Wang, Yichen Y; Sufiyan, Sufiyan S; Liu, Quentin Q; Owen, Gareth I GI; Li, Zhiguang Z; Chen, Jun J

Publication Date: 2019-09

Variant appearance in text: NOTCH1: D1808N

PubMed Link: 31369215

Variant Present in the following documents:

• CAM4-8-5673-s008.xlsx, sheet 5

View BVdb publication page

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Analysis of Genomic Alteration in Primary Central Nervous System Lymphoma and the Expression of Some Related Genes.

Neoplasia (New York, N.Y.)

Zhou, Yangying Y; Liu, Wei W; Xu, Zhijie Z; Zhu, Hong H; Xiao, Desheng D; Su, Weiping W; Zeng, Ruolan R; Feng, Yuhua Y; Duan, Yumei Y; Zhou, Jianhua J; Zhong, Meizuo M

Publication Date: 2018-10

Variant appearance in text: NOTCH1: 5422G>A; Asp1808Asn

PubMed Link: 30227305

Variant Present in the following documents:

• mmc1.xlsx, sheet 6

View BVdb publication page

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Novel clinicopathological and molecular characterization of metanephric adenoma: a study of 28 cases.

Diagnostic Pathology

Ding, Ying Y; Wang, Cong C; Li, Xuejie X; Jiang, Yangyang Y; Mei, Ping P; Huang, Wenbin W; Song, Guoxin G; Wang, Jinsong J; Ping, Guoqiang G; Hu, Ran R; Miao, Chen C; He, Xiao X; Chen, Gang G; Li, Hai H; Zhu, Yan Y; Zhang, Zhihong Z

Publication Date: 2018-08-16

Variant appearance in text: NOTCH1: D1808N

PubMed Link: 30111351

Variant Present in the following documents:

• Main text
• 13000_2018_Article_732.pdf

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: NOTCH1: 5422G>A; D1808N; rs571739078

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 3

View BVdb publication page

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