Publications:

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: WDR89: R100X

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Integrative proteomic characterization of adenocarcinoma of esophagogastric junction.

Nature Communications

Li, Shengli S; Yuan, Li L; Xu, Zhi-Yuan ZY; Xu, Jing-Li JL; Chen, Gui-Ping GP; Guan, Xiaoqing X; Pan, Guang-Zhao GZ; Hu, Can C; Dong, Jinyun J; Du, Yi-An YA; Yang, Li-Tao LT; Ni, Mao-Wei MW; Jiang, Rui-Bin RB; Zhu, Xiu X; Lv, Hang H; Xu, Han-Dong HD; Zhang, Sheng-Jie SJ; Qin, Jiang-Jiang JJ; Cheng, Xiang-Dong XD

Publication Date: 2023-02-11

Variant appearance in text: WDR89: 298C>T; Arg100Ter; rs944955056

PubMed Link: 36774361

Variant Present in the following documents:

• 41467_2023_36462_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic trajectory and clonal evolution of multiple primary lung cancer with lymph node metastasis.

Cancer Gene Therapy

Tian, He H; Wang, Yalong Y; Yang, Zhenlin Z; Chen, Ping P; Xu, Jiachen J; Tian, Yanhua Y; Fan, Tao T; Xiao, Chu C; Bai, Guangyu G; Li, Lin L; Zheng, Bo B; Li, Chunxiang C; He, Jie J

Publication Date: 2023-01-19

Variant appearance in text: WDR89: R100*

PubMed Link: 36653483

Variant Present in the following documents:

• 41417_2022_572_MOESM9_ESM.xlsx, sheet 6
• 41417_2022_572_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.

Cancer Research Communications

Magistri, Marco M; Happ, Lanie E LE; Ramdial, Jeremy J; Lu, XiaoQing X; Stathias, Vasileios V; Kunkalla, Kranthi K; Agarwal, Nitin N; Jiang, Xiaoyu X; Schürer, Stephan C SC; Dubovy, Sander R SR; Chapman, Jennifer R JR; Vega, Francisco F; Dave, Sandeep S; Lossos, Izidore S IS

Publication Date: 2021-10

Variant appearance in text: WDR89: R100X

PubMed Link: 35528192

Variant Present in the following documents:

• crc-21-0022-s03.xlsx, sheet 1

View BVdb publication page

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A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Cell Death & Disease

Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X

Publication Date: 2022-04-22

Variant appearance in text: WDR89: R100*

PubMed Link: 35459861

Variant Present in the following documents:

• 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Homozygous SPAG6 variants can induce nonsyndromic asthenoteratozoospermia with severe MMAF.

Reproductive Biology And Endocrinology : Rb&E

Xu, Chuan C; Tang, Dongdong D; Shao, Zhongmei Z; Geng, Hao H; Gao, Yang Y; Li, Kuokuo K; Tan, Qing Q; Wang, Guanxiong G; Wang, Chao C; Wu, Huan H; Li, Guanjian G; Lv, Mingrong M; He, Xiaojin X; Cao, Yunxia Y

Publication Date: 2022-03-01

Variant appearance in text: WDR89: R100X

PubMed Link: 35232447

Variant Present in the following documents:

• 12958_2022_916_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Discovery of a molecular glue promoting CDK12-DDB1 interaction to trigger cyclin K degradation.

Elife

Lv, Lu L; Chen, Peihao P; Cao, Longzhi L; Li, Yamei Y; Zeng, Zhi Z; Cui, Yue Y; Wu, Qingcui Q; Li, Jiaojiao J; Wang, Jian-Hua JH; Dong, Meng-Qiu MQ; Qi, Xiangbing X; Han, Ting T

Publication Date: 2020-08-17

Variant appearance in text: WDR89: R100*

PubMed Link: 32804079

Variant Present in the following documents:

• elife-59994-fig2-data2.xlsx, sheet 3

View BVdb publication page

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KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.

Bmc Medical Genetics

Kumar, Kishore K; Bellad, Anikha A; Prasad, Pramada P; Girimaji, Satish Chandra SC; Muthusamy, Babylakshmi B

Publication Date: 2020-06-26

Variant appearance in text: WDR89: R100X

PubMed Link: 32590954

Variant Present in the following documents:

• 12881_2020_1074_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Bmc Medical Genetics

Sha, Yanwei Y; Ma, Ding D; Zhang, Ning N; Wei, Xiaoli X; Liu, Wensheng W; Wang, Xiong X

Publication Date: 2019-08-01

Variant appearance in text: WDR89: R100X; rs944955056

PubMed Link: 31370824

Variant Present in the following documents:

• 12881_2019_864_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Synthetic modeling reveals HOXB genes are critical for the initiation and maintenance of human leukemia.

Nature Communications

Kusakabe, Manabu M; Sun, Ann Chong AC; Tyshchenko, Kateryna K; Wong, Rachel R; Nanda, Aastha A; Shanna, Claire C; Gusscott, Samuel S; Chavez, Elizabeth A EA; Lorzadeh, Alireza A; Zhu, Alice A; Hill, Ainsleigh A; Hung, Stacy S; Brown, Scott S; Babaian, Artem A; Wang, Xuehai X; Holt, Robert A RA; Steidl, Christian C; Karsan, Aly A; Humphries, R Keith RK; Eaves, Connie J CJ; Hirst, Martin M; Weng, Andrew P AP

Publication Date: 2019-07-02

Variant appearance in text: WDR89: 298C>T; Arg100*

PubMed Link: 31266935

Variant Present in the following documents:

• 41467_2019_10510_MOESM8_ESM.xlsx, sheet 2
• 41467_2019_10510_MOESM8_ESM.xlsx, sheet 1
• 41467_2019_10510_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One

Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD

Publication Date: 2019

Variant appearance in text: WDR89: 298C>T; Arg100*

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 19
• pone.0210079.s007.xlsx, sheet 22
• pone.0210079.s007.xlsx, sheet 18

View BVdb publication page

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Exome and copy number variation analyses of Mayer-Rokitansky-Küster- Hauser syndrome.

Human Genome Variation

Takahashi, Kazumi K; Hayano, Takahide T; Sugimoto, Ryota R; Kashiwagi, Hirofumi H; Shinoda, Mari M; Nishijima, Yoshihiro Y; Suzuki, Takahiro T; Suzuki, Shingo S; Ohnuki, Yuko Y; Kondo, Akane A; Shiina, Takashi T; Nakaoka, Hirofumi H; Inoue, Ituro I; Izumi, Shun-Ichiro SI

Publication Date: 2018

Variant appearance in text: WDR89: R100X

PubMed Link: 30302266

Variant Present in the following documents:

• 41439_2018_28_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: WDR89: R100*

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 6
• NIHMS753666-supplement-2.xlsx, sheet 7

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: WDR89: R100*

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 1
• pone.0123569.s008.xls, sheet 9

View BVdb publication page

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Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.

Plos One

Chang, Han H; Jackson, Donald G DG; Kayne, Paul S PS; Ross-Macdonald, Petra B PB; Ryseck, Rolf-Peter RP; Siemers, Nathan O NO

Publication Date: 2011

Variant appearance in text: WDR89: R100*

PubMed Link: 21701589

Variant Present in the following documents:

• pone.0021097.s002.xls, sheet 5
• pone.0021097.s002.xls, sheet 6

View BVdb publication page

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