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: PCK1: T138I

PubMed Link: 36928921

Variant Present in the following documents:

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

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Targeted Sequencing of Candidate Regions Associated with Sagittal and Metopic Nonsyndromic Craniosynostosis.

Genes

Justice, Cristina M CM; Musolf, Anthony M AM; Cuellar, Araceli A; Lattanzi, Wanda W; Simeonov, Emil E; Kaneva, Radka R; Paschall, Justin J; Cunningham, Michael M; Wilkie, Andrew O M AOM; Wilson, Alexander F AF; Romitti, Paul A PA; Boyadjiev, Simeon A SA

Publication Date: 2022-05-03

Variant appearance in text: PCK1: 413C>T; Thr138Ile; rs28359542

PubMed Link: 35627201

Variant Present in the following documents:

• genes-13-00816.pdf

View BVdb publication page

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Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications

Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L

Publication Date: 2022-03-10

Variant appearance in text: PCK1: 413C>T; T138I

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: PCK1: T138I; rs28359542

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: PCK1: 413C>T; T138I; rs28359542

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: PCK1: T138I; rs28359542

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3

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Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: PCK1: T138I; rs28359542

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: PCK1: T138I

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs28359542

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: PCK1: T138I

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: PCK1: T138I

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

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