Publications:

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: ALK: L1198I; rs751306825

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Profiling Oncogenic Germline Mutations in Unselected Chinese Lung Cancer Patients.

Frontiers In Oncology

Yang, Jie J; Li, Hefei H; Li, Ben B; Li, Wei W; Guo, Qiang Q; Hu, Ling L; Song, Zizheng Z; Zhou, Bin B

Publication Date: 2021

Variant appearance in text: ALK: L1198I

PubMed Link: 33898318

Variant Present in the following documents:

• Main text

View BVdb publication page

Gilteritinib overcomes lorlatinib resistance in ALK-rearranged cancer.

Nature Communications

Mizuta, Hayato H; Okada, Koutaroh K; Araki, Mitsugu M; Adachi, Jun J; Takemoto, Ai A; Kutkowska, Justyna J; Maruyama, Kohei K; Yanagitani, Noriko N; Oh-Hara, Tomoko T; Watanabe, Kana K; Tamai, Keiichi K; Friboulet, Luc L; Katayama, Kazuhiro K; Ma, Biao B; Sasakura, Yoko Y; Sagae, Yukari Y; Kukimoto-Niino, Mutsuko M; Shirouzu, Mikako M; Takagi, Satoshi S; Simizu, Siro S; Nishio, Makoto M; Okuno, Yasushi Y; Fujita, Naoya N; Katayama, Ryohei R

Publication Date: 2021-02-24

Variant appearance in text: ALK: L1198I

PubMed Link: 33627640

Variant Present in the following documents:

• Main text
• 41467_2021_21396_MOESM1_ESM.pdf
• 41467_2021_Article_21396.pdf

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs751306825

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: ALK: L1198I

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page