Publications:

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Analysis of trio test in neurodevelopmental disorders.

Frontiers In Pediatrics

Kim, Se Hee SH; Kwon, Soon Sung SS; Lee, Joon Soo JS; Kim, Heung Dong HD; Lee, Seung-Tae ST; Choi, Jong Rak JR; Shin, Saeam S; Kang, Hoon-Chul HC

Publication Date: 2022

Variant appearance in text: PTEN: 374A>G

PubMed Link: 36619507

Variant Present in the following documents:

• fped-10-1073083.pdf

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Molecular correlates and therapeutic targets in T cell-inflamed versus non-T cell-inflamed tumors across cancer types.

Genome Medicine

Bao, Riyue R; Stapor, Daniel D; Luke, Jason J JJ

Publication Date: 2020-10-27

Variant appearance in text: PTEN: K125R

PubMed Link: 33106165

Variant Present in the following documents:

• 13073_2020_787_MOESM1_ESM.xlsx, sheet 9

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: PTEN: K125R

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One

Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS

Publication Date: 2018

Variant appearance in text: PTEN: K125R

PubMed Link: 29698444

Variant Present in the following documents:

• pone.0196434.s001.xlsx, sheet 1
• pone.0196434.s001.xlsx, sheet 3
• pone.0196434.s001.xlsx, sheet 2

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Covalent ISG15 conjugation to CHIP promotes its ubiquitin E3 ligase activity and inhibits lung cancer cell growth in response to type I interferon.

Cell Death & Disease

Yoo, Lang L; Yoon, A-Rum AR; Yun, Chae-Ok CO; Chung, Kwang Chul KC

Publication Date: 2018-01-24

Variant appearance in text: PTEN: K125R

PubMed Link: 29367604

Variant Present in the following documents:

• Main text
• 41419_2017_Article_138.pdf

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PIK3CA Mutations Contribute to Acquired Cetuximab Resistance in Patients with Metastatic Colorectal Cancer.

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

Xu, Jian-Ming JM; Wang, Yan Y; Wang, You-Liang YL; Wang, Yan Y; Liu, Tao T; Ni, Ming M; Li, Man-Sheng MS; Lin, Li L; Ge, Fei-Jiao FJ; Gong, Chun C; Gu, Jun-Yan JY; Jia, Ru R; Wang, He-Fei HF; Chen, Yu-Ling YL; Liu, Rong-Rui RR; Zhao, Chuan-Hua CH; Tan, Zhao-Li ZL; Jin, Yang Y; Zhu, Yun-Ping YP; Ogino, Shuji S; Qian, Zhi-Rong ZR

Publication Date: 2017-08-15

Variant appearance in text: PTEN: 374A>G; K125R

PubMed Link: 28424201

Variant Present in the following documents:

• Main text

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: PTEN: 374A>G; K125R

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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A method to control phosphoinositides and to analyze PTEN function in living cells using voltage sensitive phosphatases.

Frontiers In Pharmacology

Mavrantoni, Angeliki A; Thallmair, Veronika V; Leitner, Michael G MG; Schreiber, Daniela N DN; Oliver, Dominik D; Halaszovich, Christian R CR

Publication Date: 2015

Variant appearance in text: PTEN: K125R

PubMed Link: 25873899

Variant Present in the following documents:

• Main text
• fphar-06-00068.pdf

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