Publications:

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Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-25

Variant appearance in text: AKAP13: R190C; rs114777682

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Identification of recurrent variants implicated in disease in bicuspid aortic valve patients through whole-exome sequencing.

Human Genomics

Chen, Shasha S; Jin, Qinchun Q; Hou, Shiqiang S; Li, Mingfei M; Zhang, Yuan Y; Guan, Lihua L; Pan, Wenzhi W; Ge, Junbo J; Zhou, Daxin D

Publication Date: 2022-09-07

Variant appearance in text: AKAP13: R190C; rs114777682

PubMed Link: 36071494

Variant Present in the following documents:

• Main text
• 40246_2022_Article_405.pdf

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: AKAP13: R190C; rs114777682

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study.

Frontiers In Genetics

Jiang, Peng P; Hu, Yaofei Y; Wang, Yiqi Y; Zhang, Jin J; Zhu, Qinghong Q; Bai, Lin L; Tong, Qiang Q; Li, Tao T; Zhao, Liang L

Publication Date: 2019

Variant appearance in text: AKAP13: R190C

PubMed Link: 31440271

Variant Present in the following documents:

• Table_1.xlsx, sheet 5

View BVdb publication page

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Rare and Low-Frequency Variant of ARHGEF17 Is Associated With Intracranial Aneurysms.

Circulation. Genomic And Precision Medicine

He, Li L; Pierce, Richard W RW; Min, Wang W

Publication Date: 2018-07

Variant appearance in text: rs114777682

PubMed Link: 29997229

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rho Guanine Nucleotide Exchange Factor ARHGEF17 Is a Risk Gene for Intracranial Aneurysms.

Circulation. Genomic And Precision Medicine

Yang, Xinyu X; Li, Jiani J; Fang, Yabo Y; Zhang, Zhen Z; Jin, Daqing D; Chen, Xingdong X; Zhao, Yan Y; Li, Mengqi M; Huan, Linchun L; Kent, Thomas A TA; Dong, Jing-Fei JF; Jiang, Rongcai R; Yang, Shuyuan S; Jin, Li L; Zhang, Jianning J; Zhong, Tao P TP; Yu, Fuli F

Publication Date: 2018-07

Variant appearance in text: rs114777682

PubMed Link: 29997225

Variant Present in the following documents:

• Main text

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: AKAP13: 568C>T; R190C; rs114777682

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: AKAP13: R190C; rs114777682

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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