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: MUC16: 40672_40673insTCGG; K13558Ifs*24

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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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: MUC16: 40672_40673insTCGG

PubMed Link: 36653483

Variant Present in the following documents:

• 41417_2022_572_MOESM9_ESM.xlsx, sheet 8
• 41417_2022_572_MOESM2_ESM.xlsx, sheet 1
• 41417_2022_572_MOESM9_ESM.xlsx, sheet 6

View BVdb publication page

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Molecular characterization of vascular intestinal obstruction using whole-exome sequencing.

Annals Of Translational Medicine

Ji, Zhong Z; Du, Zhaohui Z; Zheng, Chuanming C; Dou, Hehe H; Jiang, Hai H; Wang, Xing X; Wang, Zhenjie Z

Publication Date: 2022-04

Variant appearance in text: MUC16: 40672_40673insTCGG; K13558Ifs*24

PubMed Link: 35571423

Variant Present in the following documents:

• Main text
• atm-10-08-442.pdf

View BVdb publication page

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: MUC16: 40672_40673insTCGG; Lys13558Ilefs*24; rs769228524

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM16_ESM.xlsx, sheet 1

View BVdb publication page

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Whole exome sequencing of a Saudi family and systems biology analysis identifies CPED1 as a putative causative gene to Celiac Disease.

Saudi Journal Of Biological Sciences

Bokhari, Hifaa A HA; Shaik, Noor Ahmad NA; Banaganapalli, Babajan B; Nasser, Khalidah Khalid KK; Ageel, Hossain Ibrahim HI; Al Shamrani, Ali Saad AS; Rashidi, Omran M OM; Al Ghubayshi, Omar Yaseen OY; Shaik, Jilani J; Ahmad, Aftab A; Alrayes, Nuha Mohammad NM; Al-Aama, Jumana Yousuf JY; Elango, Ramu R; Saadah, Omar Ibrahim OI

Publication Date: 2020-06

Variant appearance in text: MUC16: 40672_40673insTCGG; K13558fs; rs769228524

PubMed Link: 32489286

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs769228524

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

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: MUC16: 40672_40673insTCGG; K13558fs

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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Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP).

Npj Genomic Medicine

Friedman, Daniel D; Kannan, Kasthuri K; Faustin, Arline A; Shroff, Seema S; Thomas, Cheddhi C; Heguy, Adriana A; Serrano, Jonathan J; Snuderl, Matija M; Devinsky, Orrin O

Publication Date: 2018

Variant appearance in text: MUC16: 40672_40673insTCGG; K13558fs

PubMed Link: 29619247

Variant Present in the following documents:

• 41525_2018_48_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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