Publications:

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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: BRAF: 515G>A; R172Q

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Integrated proteomic analysis of low-grade gliomas reveals contributions of 1p-19q co-deletion to oligodendroglioma.

Acta Neuropathologica Communications

Wong, Derek D; Lee, Tae Hoon TH; Lum, Amy A; Tao, Valerie Lan VL; Yip, Stephen S

Publication Date: 2022-05-07

Variant appearance in text: BRAF: R172K

PubMed Link: 35526077

Variant Present in the following documents:

• 40478_2022_1372_MOESM18_ESM.xlsx, sheet 1

View BVdb publication page

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Tumor organoids for cancer research and personalized medicine.

Cancer Biology & Medicine

Yang, Hui H; Wang, Yinuo Y; Wang, Peng P; Zhang, Ning N; Wang, Pengyuan P

Publication Date: 2021-09-14

Variant appearance in text: BRAF: R172K

PubMed Link: 34520134

Variant Present in the following documents:

• Main text

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Molecular diagnostics helps to identify distinct subgroups of spinal astrocytomas.

Acta Neuropathologica Communications

Biczok, Annamaria A; Strübing, Felix L FL; Eder, Julia M JM; Egensperger, Rupert R; Schnell, Oliver O; Zausinger, Stefan S; Neumann, Julia E JE; Herms, Jochen J; Tonn, Joerg-Christian JC; Dorostkar, Mario M MM

Publication Date: 2021-06-30

Variant appearance in text: BRAF: R172K

PubMed Link: 34193285

Variant Present in the following documents:

• 40478_2021_1222_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Potential of modern circulating cell-free DNA diagnostic tools for detection of specific tumour cells in clinical practice.

Biochemia Medica

Gašperšič, Jernej J; Videtič Paska, Alja A

Publication Date: 2020-10-15

Variant appearance in text: BRAF: R172K

PubMed Link: 32774122

Variant Present in the following documents:

• bm-30-3-030504-S1.pdf

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Dissecting Mechanisms of Melanoma Resistance to BRAF and MEK Inhibitors Revealed Genetic and Non-Genetic Patient- and Drug-Specific Alterations and Remarkable Phenotypic Plasticity.

Cells

Hartman, Mariusz L ML; Sztiller-Sikorska, Malgorzata M; Gajos-Michniewicz, Anna A; Czyz, Malgorzata M

Publication Date: 2020-01-07

Variant appearance in text: BRAF: R172K

PubMed Link: 31936151

Variant Present in the following documents:

• cells-09-00142-s001.pdf

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Design and Validation of a Gene-Targeted, Next-Generation Sequencing Panel for Routine Diagnosis in Gliomas.

Cancers

D'Haene, Nicky N; Meléndez, Bárbara B; Blanchard, Oriane O; De Nève, Nancy N; Lebrun, Laetitia L; Van Campenhout, Claude C; Salmon, Isabelle I

Publication Date: 2019-06-04

Variant appearance in text: BRAF: R172K

PubMed Link: 31167453

Variant Present in the following documents:

• Main text
• cancers-11-00773.pdf

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Pleomorphic xanthoastrocytomas of adults: MRI features, molecular markers, and clinical outcomes.

Scientific Reports

Yan, Jing J; Cheng, Jingliang J; Liu, Furong F; Liu, Xianzhi X

Publication Date: 2018-09-24

Variant appearance in text: BRAF: R172K

PubMed Link: 30250216

Variant Present in the following documents:

• Main text
• 41598_2018_Article_32273.pdf

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Plasmid-Based Materials as Multiplex Quality Controls and Calibrators for Clinical Next-Generation Sequencing Assays.

The Journal Of Molecular Diagnostics : Jmd

Sims, David J DJ; Harrington, Robin D RD; Polley, Eric C EC; Forbes, Thomas D TD; Mehaffey, Michele G MG; McGregor, Paul M PM; Camalier, Corinne E CE; Harper, Kneshay N KN; Bouk, Courtney H CH; Das, Biswajit B; Conley, Barbara A BA; Doroshow, James H JH; Williams, P Mickey PM; Lih, Chih-Jian CJ

Publication Date: 2016-05

Variant appearance in text: BRAF: R172K

PubMed Link: 27105923

Variant Present in the following documents:

• Main text

View BVdb publication page

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