Publications:

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Biallelic mutations in WDR12 are associated with male infertility with tapered-head sperm.

Asian Journal Of Andrology

Hua, Juan J; Guo, Lan L; Yao, Yao Y; Hu, Wen W; Wan, Yang-Yang YY; Xu, Bo B

Publication Date: 2022-09-30

Variant appearance in text: FAT1: 3337G>A; Asp1113Asn

PubMed Link: 36178131

Variant Present in the following documents:

• Main text
• AJA-25-398.pdf

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: FAT1: D1113N

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1
• Table_3.xlsx, sheet 1

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Dualistic classification of high grade serous ovarian carcinoma has its root in spatial heterogeneity.

Journal Of Advanced Research

Sun, Tingting T; Zhang, Zuwei Z; Tian, Liming L; Zheng, Yu Y; Wu, Linxiang L; Guo, Yunyun Y; Li, Xiaohui X; Li, Yuanyuan Y; Shen, Hongwei H; Lai, Yingrong Y; Liu, Junfeng J; Cui, Huanhuan H; He, Shasha S; Ren, Yufeng Y; Yang, Guofen G

Publication Date: 2022-08-28

Variant appearance in text: FAT1: D1113N

PubMed Link: 36038111

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

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Genomic profiling of Chinese patients with urothelial carcinoma.

Bmc Cancer

Yang, Bo B; Zhao, Xiao X; Wan, Chong C; Ma, Xin X; Niu, Shaoxi S; Guo, Aitao A; Wang, Jieli J; Wang, Jinliang J; Sun, Decong D; Jiao, Shunchang S

Publication Date: 2021-02-15

Variant appearance in text: FAT1: 3337G>A; Asp1113Asn; rs144526682

PubMed Link: 33588785

Variant Present in the following documents:

• 12885_2021_7829_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Identification of rare variants in novel candidate genes in pulmonary atresia patients by next generation sequencing.

Computational And Structural Biotechnology Journal

Shi, Xin X; Zhang, Li L; Bai, Kai K; Xie, Huilin H; Shi, Tieliu T; Zhang, Ruilin R; Fu, Qihua Q; Chen, Sun S; Lu, Yanan Y; Yu, Yu Y; Sun, Kun K

Publication Date: 2020

Variant appearance in text: FAT1: D1113N

PubMed Link: 32128068

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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DaT Scan "Abnormality" in Hyperglycemic-Hemichorea.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)

Doher, Nicholas N; Gupta, Harsh V HV

Publication Date: 2019

Variant appearance in text: FAT1: D1113N

PubMed Link: 31824748

Variant Present in the following documents:

• tre-09-739-s003.xlsx, sheet 3
• tre-09-739-s003.xlsx, sheet 4

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High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine

Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS

Publication Date: 2019-12

Variant appearance in text: FAT1: 3337G>A; D1113N

PubMed Link: 31768066

Variant Present in the following documents:

• NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4

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Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications

North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ

Publication Date: 2018-05-14

Variant appearance in text: FAT1: D1113N; rs144526682

PubMed Link: 29760388

Variant Present in the following documents:

• 41467_2018_4008_MOESM3_ESM.xlsx, sheet 32

View BVdb publication page

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Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.

Journal Of Personalized Medicine

Jiang, Jingrui J; Protopopov, Alexei A; Sun, Ruobai R; Lyle, Stephen S; Russell, Meaghan M

Publication Date: 2018-04-09

Variant appearance in text: FAT1: D1113N

PubMed Link: 29642553

Variant Present in the following documents:

• Main text
• jpm-08-00013.pdf

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[Spectrum of somatic mutations and their prognostic significance in adult patients with B cell acute lymphoblastic leukemia].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Feng, J J; Gong, X Y XY; Jia, Y J YJ; Liu, K Q KQ; Li, Y Y; Dong, X B XB; Fang, Q Y QY; Ru, K K; Li, Q H QH; Wang, H J HJ; Zhao, X L XL; Jia, Y N YN; Song, Y Y; Tian, Z Z; Wang, M M; Tang, K J KJ; Wang, J X JX; Mi, Y C YC

Publication Date: 2018-02-14

Variant appearance in text: FAT1: D1113N

PubMed Link: 29562441

Variant Present in the following documents:

• Main text
• cjh-39-02-098.pdf

View BVdb publication page

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Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget

Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X

Publication Date: 2017-09-26

Variant appearance in text: FAT1: D1113N

PubMed Link: 29088863

Variant Present in the following documents:

• oncotarget-08-75264-s003.xls, sheet 1

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