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: KIF18A: H755Y

PubMed Link: 37012232

Variant Present in the following documents:

• 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2

View BVdb publication page

Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research

Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z

Publication Date: 2023-01-06

Variant appearance in text: KIF18A: H755Y; rs141828077

PubMed Link: 36607615

Variant Present in the following documents:

• can-22-2224_table_s8_suppst8.xlsx, sheet 18
• can-22-2224_table_s8_suppst8.xlsx, sheet 19

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Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella.

Nature Communications

Shen, Ying Y; Zhang, Feng F; Li, Fuping F; Jiang, Xiaohui X; Yang, Yihong Y; Li, Xiaoliang X; Li, Weiyu W; Wang, Xiang X; Cheng, Juan J; Liu, Mohan M; Zhang, Xueguang X; Yuan, Guiping G; Pei, Xue X; Cai, Kailai K; Hu, Fengyun F; Sun, Jianfeng J; Yan, Lanzhen L; Tang, Li L; Jiang, Chuan C; Tu, Wenling W; Xu, Jinyan J; Wu, Haojuan H; Kong, Weiqi W; Li, Shuying S; Wang, Ke K; Sheng, Kai K; Zhao, Xudong X; Yue, Huanxun H; Yang, Xiaoyu X; Xu, Wenming W

Publication Date: 2019-01-25

Variant appearance in text: KIF18A: 2263C>T; H755Y

PubMed Link: 30683861

Variant Present in the following documents:

• 41467_2018_8182_MOESM10_ESM.xls, sheet 2

View BVdb publication page

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: rs141828077

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page