Publications:

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

The Journal Of Clinical Investigation

Klonowska, Katarzyna K; Grevelink, Joannes M JM; Giannikou, Krinio K; Ogorek, Barbara A BA; Herbert, Zachary T ZT; Thorner, Aaron R AR; Darling, Thomas N TN; Moss, Joel J; Kwiatkowski, David J DJ

Publication Date: 2022-05-16

Variant appearance in text: N/A

PubMed Link: 35358092

Variant Present in the following documents:

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Metastatic pediatric sclerosing epithelioid fibrosarcoma.

Cold Spring Harbor Molecular Case Studies

Woods, Andrew D AD; Purohit, Reshma R; Mitchell, Laura Crocker LC; Collier, John R JR; Collier, Katherine A KA; Lathara, Melvin M; Learned, Katrina K; Vaske, Olena O; Geiger, Heather H; Wrzeszczynski, Kazimierz O KO; Jobanputra, Vaidehi V; Srinivasa, Ganapati G; Rudzinski, Erin R ER; Whelan, Kimberly K; Beierle, Elizabeth E; Spunt, Sheri L SL; Keller, Charles C; Wadhwa, Aman A

Publication Date: 2021-10

Variant appearance in text: TP53: 588dupA

PubMed Link: 34362827

Variant Present in the following documents:

• Main text
• MCS006093Woo.pdf

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: TP53: 588dupA

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 5
• 41467_2020_16067_MOESM9_ESM.xlsx, sheet 1
• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 6
• 41467_2020_16067_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page