Publications:

---

Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications

Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA

Publication Date: 2023-04-03

Variant appearance in text: FAT1: A4551G

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

---

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: FAT1: A4551G; rs148468016

PubMed Link: 36966136

Variant Present in the following documents:

• 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

---

Whole-exome sequencing and bioinformatic analyses revealed differences in gene mutation profiles in papillary thyroid cancer patients with and without benign thyroid goitre background.

Frontiers In Endocrinology

Eng, Zing Hong ZH; Abdullah, Mardiaty Iryani MI; Ng, Khoon Leong KL; Abdul Aziz, Azlina A; Arba'ie, Nurul Hannis NH; Mat Rashid, Nurullainy N; Mat Junit, Sarni S

Publication Date: 2022

Variant appearance in text: FAT1: 13652C>G; Ala4551Gly; rs148468016

PubMed Link: 36686473

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

---

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: A4551G

PubMed Link: 36072793

Variant Present in the following documents:

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

View BVdb publication page

---

Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Advanced Science (Weinheim, Baden-Wurttemberg, Germany)

Kim, Soon-Chan SC; Park, Ji Won JW; Seo, Ha-Young HY; Kim, Minjung M; Park, Jae-Hyeon JH; Kim, Ga-Hye GH; Lee, Ja Oh JO; Shin, Young-Kyoung YK; Bae, Jeong Mo JM; Koo, Bon-Kyoung BK; Jeong, Seung-Yong SY; Ku, Ja-Lok JL

Publication Date: 2022-02

Variant appearance in text: FAT1: 13652C>G; Ala4551Gly

PubMed Link: 34918496

Variant Present in the following documents:

• ADVS-9-2103360-s007.xlsx, sheet 3

View BVdb publication page

---

Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Plos Neglected Tropical Diseases

Xing, Yan Y; He, Jun J; Wen, Yan Y; Liu, Jian J; You, Yuangang Y; Weng, Xiaoman X; Yuan, Lianchao L; Xiong, Li L; Chen, Xiaohua X; Zhang, Ying Y; Li, Huan-Ying HY

Publication Date: 2020-12

Variant appearance in text: FAT1: A4551G; rs148468016

PubMed Link: 33362202

Variant Present in the following documents:

• pntd.0008883.s010.xlsx, sheet 1

View BVdb publication page

---

Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: FAT1: 13652C>G; A4551G; rs148468016

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

---

Mutational spectrum and associations with clinical features in patients with acute myeloid leukaemia based on next‑generation sequencing.

Molecular Medicine Reports

Li, Ying Y; Lv, Xiao X; Ge, Xueling X; Yuan, Dai D; Ding, Mei M; Zhen, Changqing C; Zhao, Wenbo W; Liu, Xin X; Wang, Xianghua X; Xu, Hongzhi H; Li, Ying Y; Wang, Xin X

Publication Date: 2019-05

Variant appearance in text: FAT1: A4551G

PubMed Link: 30942411

Variant Present in the following documents:

• Main text
• mmr-19-05-4147.pdf

View BVdb publication page

---

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: FAT1: 13652C>G; Ala4551Gly; rs148468016

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

---

[Targeted sequencing analysis of hyper-eosinophilic syndrome and chronic eosinophilic leukemia].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi

Qu, S Q SQ; Qin, T J TJ; Xu, Z F ZF; Zhang, Y Y; Jia, Y J YJ; Ai, X F XF; Zhang, H L HL; Fang, L W LW; Hu, N B NB; Pan, L J LJ; Li, B B; Liu, J Q JQ; Ru, K K; Xiao, Z J ZJ

Publication Date: 2018-06-14

Variant appearance in text: FAT1: A4551G

PubMed Link: 30032569

Variant Present in the following documents:

• Main text
• cjh-39-06-501.pdf

View BVdb publication page

---

[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: A4551G

PubMed Link: 29562441

Variant Present in the following documents:

• Main text
• cjh-39-02-098.pdf

View BVdb publication page

---

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: A4551G

PubMed Link: 29088863

Variant Present in the following documents:

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

View BVdb publication page

---

Electron Microscopy Pathology of ADSSL1 Myopathy.

Journal Of Clinical Neurology (Seoul, Korea)

Park, Hyung Jun HJ; Lee, Jee Eun JE; Choi, Gyeong Seon GS; Koo, Heasoo H; Han, Soo Jeong SJ; Yoo, Jeong Hyun JH; Choi, Young Chul YC; Park, Kee Duk KD

Publication Date: 2017-01

Variant appearance in text: FAT1: 13652C>G; rs148468016

PubMed Link: 27868399

Variant Present in the following documents:

• jcn-13-105-s003.pdf

View BVdb publication page

---

Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: FAT1: A4551G

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD3.xlsx, sheet 1

View BVdb publication page

---