Publications:

Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.

Frontiers In Oncology

Sun, Daqiang D; Xu, Meilin M; Pan, Chaohu C; Tang, Hongzhen H; Wang, Peng P; Wu, Dongfang D; Luo, Haitao H

Publication Date: 2022

Variant appearance in text: TSC1: 1029+1G>A

PubMed Link: 36425562

Variant Present in the following documents:

• Table_4.xlsx, sheet 1
• Table_3.xlsx, sheet 1

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: rs118203485

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Scientific Reports

Rosengren, Thomas T; Nanhoe, Santoesha S; de Almeida, Luis Gustavo Dufner LGD; Schönewolf-Greulich, Bitten B; Larsen, Lasse Jonsgaard LJ; Hey, Caroline Amalie Brunbjerg CAB; Dunø, Morten M; Ek, Jakob J; Risom, Lotte L; Nellist, Mark M; Møller, Lisbeth Birk LB

Publication Date: 2020-06-18

Variant appearance in text: TSC1: 1029+1G>A

PubMed Link: 32555378

Variant Present in the following documents:

• 41598_2020_66588_MOESM1_ESM.pdf

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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics

Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G

Publication Date: 2020-02

Variant appearance in text: TSC1: 1029+1G>A

PubMed Link: 31506931

Variant Present in the following documents:

• CGE-97-235-s002.xlsx, sheet 1

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Next-generation sequencing reveals somatic mutations that confer exceptional response to everolimus.

Oncotarget

Lim, Sun Min SM; Park, Hyung Soon HS; Kim, Sangwoo S; Kim, Sora S; Ali, Siraj M SM; Greenbowe, Joel R JR; Yang, In Seok IS; Kwon, Nak-Jung NJ; Lee, Jae Lyun JL; Ryu, Min-Hee MH; Ahn, Jin-Hee JH; Lee, Jeeyun J; Lee, Min Goo MG; Kim, Hyo Song HS; Kim, Hyunki H; Kim, Hye Ryun HR; Moon, Yong Wha YW; Chung, Hyun Cheol HC; Kim, Joo-Hang JH; Kang, Yoon-Koo YK; Cho, Byoung Chul BC

Publication Date: 2016-03-01

Variant appearance in text: TSC1: 1029+1G>A

PubMed Link: 26859683

Variant Present in the following documents:

• Main text
• oncotarget-07-10547.pdf
• oncotarget-07-10547-s002.pdf

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