Publications:

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Characterization of p38α autophosphorylation inhibitors that target the non-canonical activation pathway.

Nature Communications

González, Lorena L; Díaz, Lucía L; Pous, Joan J; Baginski, Blazej B; Duran-Corbera, Anna A; Scarpa, Margherita M; Brun-Heath, Isabelle I; Igea, Ana A; Martin-Malpartida, Pau P; Ruiz, Lidia L; Pallara, Chiara C; Esguerra, Mauricio M; Colizzi, Francesco F; Mayor-Ruiz, Cristina C; Biondi, Ricardo M RM; Soliva, Robert R; Macias, Maria J MJ; Orozco, Modesto M; Nebreda, Angel R AR

Publication Date: 2023-06-12

Variant appearance in text: RET: V804M

PubMed Link: 37308482

Variant Present in the following documents:

• 41467_2023_39051_MOESM3_ESM.xlsx, sheet 5

View BVdb publication page

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N-of-1 Trials in Cancer Drug Development.

Cancer Discovery

Gouda, Mohamed A MA; Buschhorn, Lars L; Schneeweiss, Andreas A; Wahida, Adam A; Subbiah, Vivek V

Publication Date: 2023-04-18

Variant appearance in text: RET: V804M

PubMed Link: 37070849

Variant Present in the following documents:

• Main text

View BVdb publication page

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Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A in Denmark: A Nationwide Population-Based Retrospective Study in Denmark 1930-2021.

Cancers

Holm, Magnus M; Vestergaard, Peter P; Poulsen, Morten Møller MM; Rasmussen, Åse Krogh ÅK; Feldt-Rasmussen, Ulla U; Bay, Mette M; Rolighed, Lars L; Londero, Stefano S; Pedersen, Henrik Baymler HB; Hahn, Christoffer Holst CH; Rask, Klara Bay KB; Nielsen, Heidi Hvid HH; Gaustadnes, Mette M; Rossing, Maria Caroline MC; Hermann, Anne Pernille AP; Godballe, Christian C; Mathiesen, Jes Sloth JS

Publication Date: 2023-04-02

Variant appearance in text: RET: Val804Met

PubMed Link: 37046785

Variant Present in the following documents:

• Main text
• cancers-15-02125.pdf

View BVdb publication page

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Discovery of an In Vivo Chemical Probe for BCL6 Inhibition by Optimization of Tricyclic Quinolinones.

Journal Of Medicinal Chemistry

Harnden, Alice C AC; Davis, Owen A OA; Box, Gary M GM; Hayes, Angela A; Johnson, Louise D LD; Henley, Alan T AT; de Haven Brandon, Alexis K AK; Valenti, Melanie M; Cheung, Kwai-Ming J KJ; Brennan, Alfie A; Huckvale, Rosemary R; Pierrat, Olivier A OA; Talbot, Rachel R; Bright, Michael D MD; Akpinar, Hafize Aysin HA; Miller, Daniel S J DSJ; Tarantino, Dalia D; Gowan, Sharon S; de Klerk, Selby S; McAndrew, Peter Craig PC; Le Bihan, Yann-Vaï YV; Meniconi, Mirco M; Burke, Rosemary R; Kirkin, Vladimir V; van Montfort, Rob L M RLM; Raynaud, Florence I FI; Rossanese, Olivia W OW; Bellenie, Benjamin R BR; Hoelder, Swen S

Publication Date: 2023-04-07

Variant appearance in text: RET: V804M

PubMed Link: 37026591

Variant Present in the following documents:

• jm3c00155_si_002.xlsx, sheet 2

View BVdb publication page

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Deep Annotation of Donated Chemical Probes (DCP) in Organotypic Human Liver Cultures and Patient-Derived Organoids from Tumor and Normal Colorectum.

Acs Chemical Biology

Tredup, Claudia C; Ndreshkjana, Benardina B; Schneider, Natalie S NS; Tjaden, Amelie A; Kemas, Aurino M AM; Youhanna, Sonia S; Lauschke, Volker M VM; Berger, Benedict-Tilman BT; Krämer, Andreas A; Berger, Lena M LM; Röhm, Sandra S; Knapp, Stefan S; Farin, Henner F HF; Müller, Susanne S

Publication Date: 2023-03-21

Variant appearance in text: RET: V804M

PubMed Link: 36944371

Variant Present in the following documents:

• cb2c00877_si_004.xlsx, sheet 1

View BVdb publication page

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Investigation of the anti-tumor mechanism of tirabrutinib, a highly selective Bruton's tyrosine kinase inhibitor, by phosphoproteomics and transcriptomics.

Plos One

Kozaki, Ryohei R; Yasuhiro, Tomoko T; Kato, Hikaru H; Murai, Jun J; Hotta, Shingo S; Ariza, Yuko Y; Sakai, Shunsuke S; Fujikawa, Ryu R; Yoshida, Takao T

Publication Date: 2023

Variant appearance in text: RET: V804M

PubMed Link: 36897912

Variant Present in the following documents:

• pone.0282166.s009.xlsx, sheet 1

View BVdb publication page

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Targeted Therapy for Anaplastic Thyroid Carcinoma: Advances and Management.

Cancers

Yuan, Jiaqian J; Guo, Yong Y

Publication Date: 2022-12-28

Variant appearance in text: RET: V804M

PubMed Link: 36612173

Variant Present in the following documents:

• Main text
• cancers-15-00179.pdf

View BVdb publication page

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Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Cancer Science

Kage, Hidenori H; Shinozaki-Ushiku, Aya A; Ishigaki, Kazunaga K; Sato, Yusuke Y; Tanabe, Masahiko M; Tanaka, Shota S; Tanikawa, Michihiro M; Watanabe, Kousuke K; Kato, Shingo S; Akagi, Kiwamu K; Uchino, Keita K; Mitani, Kinuko K; Takahashi, Shunji S; Miura, Yuji Y; Ikeda, Sadakatsu S; Kojima, Yasushi Y; Watanabe, Kiyotaka K; Mochizuki, Hitoshi H; Yamaguchi, Hironori H; Kawazoe, Yoshimasa Y; Kashiwabara, Kosuke K; Kohsaka, Shinji S; Tatsuno, Kenji K; Ushiku, Tetsuo T; Ohe, Kazuhiko K; Yatomi, Yutaka Y; Seto, Yasuyuki Y; Aburatani, Hiroyuki H; Mano, Hiroyuki H; Miyagawa, Kiyoshi K; Oda, Katsutoshi K

Publication Date: 2023-01-05

Variant appearance in text: RET: 2410G>A; V804M

PubMed Link: 36601953

Variant Present in the following documents:

• CAS-114-1710-s001.xlsx, sheet 1

View BVdb publication page

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Targeted therapy of RET fusion-positive non-small cell lung cancer.

Frontiers In Oncology

Shen, Zixiong Z; Qiu, Binxu B; Li, Lin L; Yang, Bo B; Li, Guanghu G

Publication Date: 2022

Variant appearance in text: RET: V804M

PubMed Link: 36582799

Variant Present in the following documents:

• Main text
• fonc-12-1033484.pdf

View BVdb publication page

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Machine learning driven drug repurposing strategy for identification of potential RET inhibitors against non-small cell lung cancer.

Medical Oncology (Northwood, London, England)

Ramesh, Priyanka P; Karuppasamy, Ramanathan R; Veerappapillai, Shanthi S

Publication Date: 2022-12-21

Variant appearance in text: RET: V804M

PubMed Link: 36542155

Variant Present in the following documents:

• Main text
• 12032_2022_Article_1924.pdf

View BVdb publication page

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Temporal trends in referrals of RET gene carriers for neck surgery to a tertiary surgical center in the era of international management guidelines.

Endocrine

Machens, Andreas A; Lorenz, Kerstin K; Huessler, Eva-Maria EM; Stang, Andreas A; Weber, Frank F; Dralle, Henning H

Publication Date: 2022-12-02

Variant appearance in text: RET: Val804Met

PubMed Link: 36456885

Variant Present in the following documents:

• Main text
• 12020_2022_Article_3273.pdf

View BVdb publication page

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CRISPR/Cas9 RET Gene Knockout in Medullary Thyroid Carcinoma Cell-lines: Optimization and Validation.

Iranian Journal Of Public Health

Zarif-Yeganeh, Marjan M; Farhud, Dariush D DD; Rahimpour, Azam A; Sheikholeslami, Sara S; Shivaei, Setareh S; Hedayati, Mehdi M

Publication Date: 2022-05

Variant appearance in text: RET: V804M

PubMed Link: 36407731

Variant Present in the following documents:

• Main text
• IJPH-51-1084.pdf

View BVdb publication page

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VIP152 is a selective CDK9 inhibitor with pre-clinical in vitro and in vivo efficacy in chronic lymphocytic leukemia.

Leukemia

Sher, Steven S; Whipp, Ethan E; Walker, Janek J; Zhang, Pu P; Beaver, Larry L; Williams, Katie K; Orwick, Shelley S; Ravikrishnan, Janani J; Walker, Brandi B; Perry, Elizabeth E; Gregory, Charles C; Purcell, Matthew M; Pan, Alexander A; Yan, Pearlly P; Alinari, Lapo L; Johnson, Amy J AJ; Frigault, Melanie M MM; Greer, Joy M JM; Hamdy, Ahmed A; Izumi, Raquel R; Mo, Xiaokui X; Sampath, Deepa D; Woyach, Jennifer J; Blachly, James J; Byrd, John C JC; Lapalombella, Rosa R

Publication Date: 2022-11-14

Variant appearance in text: RET: V804M

PubMed Link: 36376377

Variant Present in the following documents:

• 41375_2022_1758_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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RET Proto-Oncogene-Not Such an Obvious Starting Point in Cancer Therapy.

Cancers

Kucharczyk, Tomasz T; Krawczyk, Paweł P; Kowalski, Dariusz M DM; Płużański, Adam A; Kubiatowski, Tomasz T; Kalinka, Ewa E

Publication Date: 2022-10-27

Variant appearance in text: MEN2A: V804M

PubMed Link: 36358717

Variant Present in the following documents:

• Main text
• cancers-14-05298.pdf

View BVdb publication page

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Integrated proteogenomic characterization of medullary thyroid carcinoma.

Cell Discovery

Shi, Xiao X; Sun, Yaoting Y; Shen, Cenkai C; Zhang, Yan Y; Shi, Rongliang R; Zhang, Fan F; Liao, Tian T; Lv, Guojun G; Zhu, Zhengcai Z; Jiao, Lianghe L; Li, Peng P; Xu, Tiansheng T; Qu, Ning N; Huang, Naisi N; Hu, Jiaqian J; Zhang, Tingting T; Gu, Yanzi Y; Qin, Guangqi G; Guan, Haixia H; Pu, Weilin W; Li, Yuan Y; Geng, Xiang X; Zhang, Yan Y; Chen, Tongzhen T; Huang, Shenglin S; Zhang, Zhikang Z; Ge, Shuting S; Wang, Wu W; Xu, Weibo W; Yu, Pengcheng P; Lu, Zhongwu Z; Wang, Yulong Y; Guo, Liang L; Wang, Yu Y; Guo, Tiannan T; Ji, Qinghai Q; Wei, Wenjun W

Publication Date: 2022-11-08

Variant appearance in text: RET: V804M; rs79658334

PubMed Link: 36344509

Variant Present in the following documents:

• 41421_2022_479_MOESM4_ESM.xlsx, sheet 3
• 41421_2022_479_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular targeted therapy for anticancer treatment.

Experimental & Molecular Medicine

Min, Hye-Young HY; Lee, Ho-Young HY

Publication Date: 2022-10

Variant appearance in text: RET: V804M

PubMed Link: 36224343

Variant Present in the following documents:

• Main text
• 12276_2022_Article_864.pdf

View BVdb publication page

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Precision oncology for RET-related tumors.

Frontiers In Oncology

Verrienti, Antonella A; Grani, Giorgio G; Sponziello, Marialuisa M; Pecce, Valeria V; Damante, Giuseppe G; Durante, Cosimo C; Russo, Diego D; Filetti, Sebastiano S

Publication Date: 2022

Variant appearance in text: RET: V804M

PubMed Link: 36091144

Variant Present in the following documents:

• Main text
• fonc-12-992636.pdf

View BVdb publication page

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A Rare Case of Negative Serum Calcitonin in Metastatic Medullary Thyroid Carcinoma: Diagnosis, Treatment, and Follow-Up Strategy.

The American Journal Of Case Reports

Licata, Lorena L; Di Fidio, Cristina A CA; Vacante, Marco M; Basile, Francesco F; Biondi, Antonio A; Richiusa, Pierina P; Gurrera, Alessandra A; Ciuni, Roberto R

Publication Date: 2022-09-11

Variant appearance in text: RET: 2410G>A; Val804Met

PubMed Link: 36088532

Variant Present in the following documents:

• Main text
• amjcaserep-23-e935207.pdf

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: RET: 2410G>A; V804M

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Designing Novel BCR-ABL Inhibitors for Chronic Myeloid Leukemia with Improved Cardiac Safety.

Journal Of Medicinal Chemistry

Pandrala, Mallesh M; Bruyneel, Arne Antoon N AAN; Hnatiuk, Anna P AP; Mercola, Mark M; Malhotra, Sanjay V SV

Publication Date: 2022-08-25

Variant appearance in text: RET: V804M

PubMed Link: 35944901

Variant Present in the following documents:

• jm1c01853_si_003.xlsx, sheet 1

View BVdb publication page

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Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.

Frontiers In Pharmacology

Panda, Gayatri G; Mishra, Neha N; Sharma, Disha D; Kutum, Rintu R; Bhoyar, Rahul C RC; Jain, Abhinav A; Imran, Mohamed M; Senthilvel, Vigneshwar V; Divakar, Mohit Kumar MK; Mishra, Anushree A; Garg, Parth P; Banerjee, Priyanka P; Sivasubbu, Sridhar S; Scaria, Vinod V; Ray, Arjun A

Publication Date: 2022

Variant appearance in text: RET: V804M; rs79658334

PubMed Link: 35865963

Variant Present in the following documents:

• Table12.xlsx, sheet 1

View BVdb publication page

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Compounds activating VCP D1 ATPase enhance both autophagic and proteasomal neurotoxic protein clearance.

Nature Communications

Wrobel, Lidia L; Hill, Sandra M SM; Djajadikerta, Alvin A; Fernandez-Estevez, Marian M; Karabiyik, Cansu C; Ashkenazi, Avraham A; Barratt, Victoria J VJ; Stamatakou, Eleanna E; Gunnarsson, Anders A; Rasmusson, Timothy T; Miele, Eric W EW; Beaton, Nigel N; Bruderer, Roland R; Feng, Yuehan Y; Reiter, Lukas L; Castaldi, M Paola MP; Jarvis, Rebecca R; Tan, Keith K; Bürli, Roland W RW; Rubinsztein, David C DC

Publication Date: 2022-07-16

Variant appearance in text: RET: V804M

PubMed Link: 35842429

Variant Present in the following documents:

• 41467_2022_31905_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Recent progress on vascular endothelial growth factor receptor inhibitors with dual targeting capabilities for tumor therapy.

Journal Of Hematology & Oncology

Liu, Yun Y; Li, Yang Y; Wang, Yuxi Y; Lin, Congcong C; Zhang, Dan D; Chen, Juncheng J; Ouyang, Liang L; Wu, Fengbo F; Zhang, Jifa J; Chen, Lei L

Publication Date: 2022-07-07

Variant appearance in text: RET: V804M

PubMed Link: 35799213

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reengineering Ponatinib to Minimize Cardiovascular Toxicity.

Cancer Research

Hnatiuk, Anna P AP; Bruyneel, Arne A N AAN; Tailor, Dhanir D; Pandrala, Mallesh M; Dheeraj, Arpit A; Li, Wenqi W; Serrano, Ricardo R; Feyen, Dries A M DAM; Vu, Michelle M MM; Amatya, Prashila P; Gupta, Saloni S; Nakauchi, Yusuke Y; Morgado, Isabel I; Wiebking, Volker V; Liao, Ronglih R; Porteus, Matthew H MH; Majeti, Ravindra R; Malhotra, Sanjay V SV; Mercola, Mark M

Publication Date: 2022-08-03

Variant appearance in text: RET: V804M

PubMed Link: 35763671

Variant Present in the following documents:

• can-21-3652_supplementary_table_s1_suppst1.xls, sheet 2

View BVdb publication page

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Enrichment of cancer-predisposing germline variants in adult and pediatric patients with acute lymphoblastic leukemia.

Scientific Reports

Douglas, Suvi P M SPM; Lahtinen, Atte K AK; Koski, Jessica R JR; Leimi, Lilli L; Keränen, Mikko A I MAI; Koskenvuo, Minna M; Heckman, Caroline A CA; Jahnukainen, Kirsi K; Pitkänen, Esa E; Wartiovaara-Kautto, Ulla U; Kilpivaara, Outi O

Publication Date: 2022-06-23

Variant appearance in text: RET: 2410G>A; Val804Met

PubMed Link: 35739278

Variant Present in the following documents:

• Main text
• 41598_2022_14364_MOESM1_ESM.xlsx, sheet 1
• 41598_2022_Article_14364.pdf

View BVdb publication page

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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: RET: V804M

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort.

Bmc Medicine

Savatt, Juliann M JM; Ortiz, Nicole M NM; Thone, Gretchen M GM; McDonald, Whitney S WS; Kelly, Melissa A MA; Berry, Alexander S F ASF; Alvi, Madiha M MM; Hallquist, Miranda L G MLG; Malinowski, Jennifer J; Purdy, Nicholas C NC; Williams, Marc S MS; Sturm, Amy C AC; Buchanan, Adam H AH

Publication Date: 2022-06-07

Variant appearance in text: RET: 2410G>A; Val804Met

PubMed Link: 35668420

Variant Present in the following documents:

• 12916_2022_2375_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Improved Binding Affinity and Pharmacokinetics Enable Sustained Degradation of BCL6 In Vivo.

Journal Of Medicinal Chemistry

Huckvale, Rosemary R; Harnden, Alice C AC; Cheung, Kwai-Ming J KJ; Pierrat, Olivier A OA; Talbot, Rachel R; Box, Gary M GM; Henley, Alan T AT; de Haven Brandon, Alexis K AK; Hallsworth, Albert E AE; Bright, Michael D MD; Akpinar, Hafize Aysin HA; Miller, Daniel S J DSJ; Tarantino, Dalia D; Gowan, Sharon S; Hayes, Angela A; Gunnell, Emma A EA; Brennan, Alfie A; Davis, Owen A OA; Johnson, Louise D LD; de Klerk, Selby S; McAndrew, Craig C; Le Bihan, Yann-Vaï YV; Meniconi, Mirco M; Burke, Rosemary R; Kirkin, Vladimir V; van Montfort, Rob L M RLM; Raynaud, Florence I FI; Rossanese, Olivia W OW; Bellenie, Benjamin R BR; Hoelder, Swen S

Publication Date: 2022-06-23

Variant appearance in text: RET: V804M

PubMed Link: 35653645

Variant Present in the following documents:

• jm1c02175_si_002.xlsx, sheet 2

View BVdb publication page

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Structural and dynamic determinants for highly selective RET kinase inhibition reveal cryptic druggability.

Journal Of Advanced Research

Shehata, Moustafa A MA; Contreras, Julia J; Martín-Hurtado, Ana A; Froux, Aurane A; Mohamed, Hossam Taha HT; El-Sherif, Ahmed A AA; Plaza-Menacho, Iván I

Publication Date: 2022-05-17

Variant appearance in text: RET: V804M

PubMed Link: 35595215

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Metastatic medullary thyroid carcinoma: a new way forward.

Endocrine-Related Cancer

Angelousi, Anna A; Hayes, Aimee R AR; Chatzellis, Eleftherios E; Kaltsas, Gregory A GA; Grossman, Ashley B AB

Publication Date: 2022-05-31

Variant appearance in text: RET: V804M

PubMed Link: 35521769

Variant Present in the following documents:

• Main text
• ERC-21-0368.pdf

View BVdb publication page

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Sporadic Medullary Thyroid Carcinoma: Towards a Precision Medicine.

Frontiers In Endocrinology

Matrone, Antonio A; Gambale, Carla C; Prete, Alessandro A; Elisei, Rossella R

Publication Date: 2022

Variant appearance in text: RET: V804M

PubMed Link: 35422765

Variant Present in the following documents:

• Main text
• fendo-13-864253.pdf

View BVdb publication page

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Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.

Nature Communications

Naslavsky, Michel S MS; Scliar, Marilia O MO; Yamamoto, Guilherme L GL; Wang, Jaqueline Yu Ting JYT; Zverinova, Stepanka S; Karp, Tatiana T; Nunes, Kelly K; Ceroni, José Ricardo Magliocco JRM; de Carvalho, Diego Lima DL; da Silva Simões, Carlos Eduardo CE; Bozoklian, Daniel D; Nonaka, Ricardo R; Dos Santos Brito Silva, Nayane N; da Silva Souza, Andreia A; de Souza Andrade, Heloísa H; Passos, Marília Rodrigues Silva MRS; Castro, Camila Ferreira Bannwart CFB; Mendes-Junior, Celso T CT; Mercuri, Rafael L V RLV; Miller, Thiago L A TLA; Buzzo, Jose Leonel JL; Rego, Fernanda O FO; Araújo, Nathalia M NM; Magalhães, Wagner C S WCS; Mingroni-Netto, Regina Célia RC; Borda, Victor V; Guio, Heinner H; Rojas, Carlos P CP; Sanchez, Cesar C; Caceres, Omar O; Dean, Michael M; Barreto, Mauricio L ML; Lima-Costa, Maria Fernanda MF; Horta, Bernardo L BL; Tarazona-Santos, Eduardo E; Meyer, Diogo D; Galante, Pedro A F PAF; Guryev, Victor V; Castelli, Erick C EC; Duarte, Yeda A O YAO; Passos-Bueno, Maria Rita MR; Zatz, Mayana M

Publication Date: 2022-03-04

Variant appearance in text: RET: V804M; rs79658334

PubMed Link: 35246524

Variant Present in the following documents:

• 41467_2022_28648_MOESM9_ESM.xlsx, sheet 1

View BVdb publication page

---

An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease-related patterns.

Genome Research

Jin, Bowen B; Capra, John A JA; Benchek, Penelope P; Wheeler, Nicholas N; Naj, Adam C AC; Hamilton-Nelson, Kara L KL; Farrell, John J JJ; Leung, Yuk Yee YY; Kunkle, Brian B; Vadarajan, Badri B; Schellenberg, Gerard D GD; Mayeux, Richard R; Wang, Li-San LS; Farrer, Lindsay A LA; Pericak-Vance, Margaret A MA; Martin, Eden R ER; Haines, Jonathan L JL; Crawford, Dana C DC; Bush, William S WS

Publication Date: 2022-04

Variant appearance in text: RET: V804M

PubMed Link: 35210353

Variant Present in the following documents:

• Main text
• 778.pdf

View BVdb publication page

---

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: RET: V804M; rs79658334

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 12
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 13
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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Emerging Biomarkers in Thyroid Practice and Research.

Cancers

Agarwal, Shipra S; Bychkov, Andrey A; Jung, Chan-Kwon CK

Publication Date: 2021-12-31

Variant appearance in text: RET: V804M

PubMed Link: 35008368

Variant Present in the following documents:

• Main text

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Emerging Biomarkers in Thyroid Practice and Research.

Cancers

Agarwal, Shipra S; Bychkov, Andrey A; Jung, Chan-Kwon CK

Publication Date: 2021-12-31

Variant appearance in text: RET: V804M

PubMed Link: 35008368

Variant Present in the following documents:

• Main text

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Germline RET Leu56Met Variant Is Likely Not Causative of Multiple Endocrine Neoplasia Type 2.

Frontiers In Endocrinology

Hansen, Anna Reimer AR; Borgwardt, Line L; Rasmussen, Åse Krogh ÅK; Godballe, Christian C; Poulsen, Morten Møller MM; Vieira, Filipe G FG; Mathiesen, Jes Sloth JS; Rossing, Maria M

Publication Date: 2021

Variant appearance in text: RET: Val804Met

PubMed Link: 34925234

Variant Present in the following documents:

• Main text
• fendo-12-764512.pdf

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The value of cell-free circulating tumour DNA profiling in advanced non-small cell lung cancer (NSCLC) management.

Cancer Cell International

Fernandes, Maria Gabriela O MGO; Cruz-Martins, Natália N; Machado, José Carlos JC; Costa, José Luís JL; Hespanhol, Venceslau V

Publication Date: 2021-12-16

Variant appearance in text: RET: V804M

PubMed Link: 34915883

Variant Present in the following documents:

• Main text

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The value of cell-free circulating tumour DNA profiling in advanced non-small cell lung cancer (NSCLC) management.

Cancer Cell International

Fernandes, Maria Gabriela O MGO; Cruz-Martins, Natália N; Machado, José Carlos JC; Costa, José Luís JL; Hespanhol, Venceslau V

Publication Date: 2021-12-16

Variant appearance in text: RET: V804M

PubMed Link: 34915883

Variant Present in the following documents:

• Main text

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Nicotinamide promotes cardiomyocyte derivation and survival through kinase inhibition in human pluripotent stem cells.

Cell Death & Disease

Meng, Ya Y; Song, Chengcheng C; Ren, Zhili Z; Li, Xiaohong X; Yang, Xiangyu X; Ai, Nana N; Yang, Yang Y; Wang, Dongjin D; Zhan, Meixiao M; Wang, Jiaxian J; Lei, Chon Lok CL; Liu, Weiwei W; Ge, Wei W; Lu, Ligong L; Chen, Guokai G

Publication Date: 2021-11-29

Variant appearance in text: RET: V804M

PubMed Link: 34845199

Variant Present in the following documents:

• 41419_2021_4395_MOESM9_ESM.xlsx, sheet 1

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Discovery of a Potent Candidate for RET-Specific Non-Small-Cell Lung Cancer-A Combined In Silico and In Vitro Strategy.

Pharmaceutics

Ramesh, Priyanka P; Shin, Woong-Hee WH; Veerappapillai, Shanthi S

Publication Date: 2021-10-24

Variant appearance in text: RET: V804M

PubMed Link: 34834190

Variant Present in the following documents:

• Main text
• pharmaceutics-13-01775.pdf

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Active Surveillance in RET Gene Carriers Belonging to Families with Multiple Endocrine Neoplasia.

Cancers

Prete, Alessandro A; Matrone, Antonio A; Gambale, Carla C; Bottici, Valeria V; Cappagli, Virginia V; Romei, Cristina C; Torregrossa, Liborio L; Valerio, Laura L; Minaldi, Elisa E; Campopiano, Maria Cristina MC; Lorusso, Loredana L; Agate, Laura L; Molinaro, Eleonora E; Viola, David D; Ramone, Teresa T; Mulè, Chiara C; Ciampi, Raffaele R; Basolo, Fulvio F; Elisei, Rossella R

Publication Date: 2021-11-05

Variant appearance in text: RET: Val804Met

PubMed Link: 34771717

Variant Present in the following documents:

• Main text

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[Advances in the Treatment of RET Fusion-Positive Advanced Non-Small-Cell Lung Cancer].

Zhongguo Fei Ai Za Zhi = Chinese Journal Of Lung Cancer

Gao, Qingyun Q; Su, Junwei J; Xiao, Faman F; Lin, Xiaocheng X; Yang, Jinji J

Publication Date: 2021-11-08

Variant appearance in text: RET: V804M

PubMed Link: 34743497

Variant Present in the following documents:

• Main text
• zgfazz-24-12-853.pdf

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[Advances in the Treatment of RET Fusion-positive Advanced Non-small Cell Lung Cancer].

Zhongguo Fei Ai Za Zhi = Chinese Journal Of Lung Cancer

Gao, Qingyun Q; Su, Junwei J; Xiao, Faman F; Lin, Xiaocheng X; Yang, Jinji J

Publication Date: 2021-12-20

Variant appearance in text: RET: V804M

PubMed Link: 34743497

Variant Present in the following documents:

• Main text
• zgfazz-24-12-853.pdf

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Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

European Journal Of Human Genetics : Ejhg

van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG

Publication Date: 2021-10-25

Variant appearance in text: RET: 2410G>A; Val804Met

PubMed Link: 34697415

Variant Present in the following documents:

• 41431_2021_964_MOESM3_ESM.xlsx, sheet 1

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Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

European Journal Of Human Genetics : Ejhg

van der Schoot, Vyne V; Haer-Wigman, Lonneke L; Feenstra, Ilse I; Tammer, Femke F; Oerlemans, Anke J M AJM; van Koolwijk, Martine P A MPA; van Agt, Frans F; Arens, Yvonne H J M YHJM; Brunner, Han G HG; Vissers, Lisenka E L M LELM; Yntema, Helger G HG

Publication Date: 2022-02

Variant appearance in text: RET: 2410G>A; Val804Met

PubMed Link: 34697415

Variant Present in the following documents:

• 41431_2021_964_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: RET: V804M

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

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RET Fusion: Joining the Ranks of Targetable Molecular Drivers in NSCLC.

Jto Clinical And Research Reports

Osta, Badi El BE; Ramalingam, Suresh S SS

Publication Date: 2020-09

Variant appearance in text: RET: V804M

PubMed Link: 34589946

Variant Present in the following documents:

• Main text

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A Phase II Study of the Multikinase Inhibitor Ponatinib in Patients With Advanced, RET-Rearranged NSCLC.

Jto Clinical And Research Reports

Gainor, Justin F JF; Gadgeel, Shirish S; Ou, Sai-Hong I SI; Yeap, Beow B; Otterson, Gregory A GA; Shaw, Alice T AT

Publication Date: 2020-09

Variant appearance in text: RET: V804M

PubMed Link: 34589941

Variant Present in the following documents:

• main.pdf

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Genomic characterization and outcome evaluation of kinome fusions in lung cancer revealed novel druggable fusions.

Npj Precision Oncology

Li, Binghao B; Qu, Hao H; Zhang, Jing J; Pan, Weibo W; Liu, Meng M; Yan, Xiaobo X; Huang, Xin X; He, Xuexin X; Lin, Dong D; Liu, Sisi S; Guan, Ruting R; Wu, Yong Y; Ou, Qiuxiang Q; Bao, Hua H; Xu, Youbin Y; Wu, Xue X; Shao, Yang Y; Lin, Nong N

Publication Date: 2021-09-10

Variant appearance in text: RET: V804M

PubMed Link: 34508169

Variant Present in the following documents:

• Main text
• 41698_2021_Article_221.pdf

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