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: NOTCH1: G936A; rs1292928234

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine

Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y

Publication Date: 2022-07

Variant appearance in text: NOTCH1: 2807G>C; G936A

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

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Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer

Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F

Publication Date: 2020

Variant appearance in text: NOTCH1: 2807G>C; G936A

PubMed Link: 33145402

Variant Present in the following documents:

• 41523_2020_201_MOESM2_ESM.xlsx, sheet 1

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CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders.

Molecular Psychiatry

Mercati, O O; Huguet, G G; Danckaert, A A; André-Leroux, G G; Maruani, A A; Bellinzoni, M M; Rolland, T T; Gouder, L L; Mathieu, A A; Buratti, J J; Amsellem, F F; Benabou, M M; Van-Gils, J J; Beggiato, A A; Konyukh, M M; Bourgeois, J-P JP; Gazzellone, M J MJ; Yuen, R K C RK; Walker, S S; Delépine, M M; Boland, A A; Régnault, B B; Francois, M M; Van Den Abbeele, T T; Mosca-Boidron, A L AL; Faivre, L L; Shimoda, Y Y; Watanabe, K K; Bonneau, D D; Rastam, M M; Leboyer, M M; Scherer, S W SW; Gillberg, C C; Delorme, R R; Cloëz-Tayarani, I I; Bourgeron, T T

Publication Date: 2017-04

Variant appearance in text: NOTCH1: G936A

PubMed Link: 27166760

Variant Present in the following documents:

• Main text
• mp201661a.pdf

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