Publications:

---

Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE

Publication Date: 2022-11-15

Variant appearance in text: BRAF: 1574T>G; Leu525Arg

PubMed Link: 36350923

Variant Present in the following documents:

• pnas.2203491119.sd01.xlsx, sheet 1

View BVdb publication page

---

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: 1574T>G; L525R

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications

Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM

Publication Date: 2022-06-29

Variant appearance in text: BRAF: 1574T>G; Leu525Arg

PubMed Link: 35768438

Variant Present in the following documents:

• 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine

Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N

Publication Date: 2022-04-26

Variant appearance in text: BRAF: 1574T>G; Leu525Arg

PubMed Link: 35468861

Variant Present in the following documents:

• 13073_2022_1042_MOESM2_ESM.xls, sheet 8

View BVdb publication page

---

Resistance to anti-EGFR therapies in metastatic colorectal cancer: underlying mechanisms and reversal strategies.

Journal Of Experimental & Clinical Cancer Research : Cr

Zhou, Jing J; Ji, Qing Q; Li, Qi Q

Publication Date: 2021-10-18

Variant appearance in text: BRAF: L525R

PubMed Link: 34663410

Variant Present in the following documents:

• Main text
• 13046_2021_Article_2130.pdf

View BVdb publication page

---

Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: BRAF: 1574T>G; L525R

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
• 41467_2020_20162_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

---

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: rs869025340

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: BRAF: L525R

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Tumor Location Is Associated With the Prevalence of Braf And Pik3ca Mutations in Patients with Wild-Type Ras Colorectal Cancer: A Prospective Multi-Center Cohort Study in Japan.

Translational Oncology

Taniguchi, Hiroya H; Uehara, Keisuke K; Nakayama, Goro G; Nakayama, Hiroshi H; Aiba, Toshisada T; Hattori, Norifumi N; Kataoka, Masato M; Nakano, Yasuyuki Y; Kawase, Yoshihisa Y; Okochi, Osamu O; Matsuoka, Hiroshi H; Utsunomiya, Setsuo S; Sakamoto, Eiji E; Mori, Yoshinori Y; Umeda, Shinichi S; Shikano, Toshio T; Komori, Koji K; Tajika, Masahiro M; Kadowaki, Shigenori S; Muro, Kei K; Yatabe, Yasushi Y

Publication Date: 2020-07

Variant appearance in text: BRAF: L525R

PubMed Link: 32428838

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

Response to Anti-EGFR Therapy in Patients with BRAF non-V600-Mutant Metastatic Colorectal Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Yaeger, Rona R; Kotani, Daisuke D; Mondaca, Sebastián S; Parikh, Aparna R AR; Bando, Hideaki H; Van Seventer, Emily E EE; Taniguchi, Hiroya H; Zhao, HuiYong H; Thant, Claire N CN; de Stanchina, Elisa E; Rosen, Neal N; Corcoran, Ryan B RB; Yoshino, Takayuki T; Yao, Zhan Z; Ebi, Hiromichi H

Publication Date: 2019-12-01

Variant appearance in text: BRAF: L525R

PubMed Link: 31515458

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Reply to `Comment on `Clinical significance of BRAF non-V600E mutations on the therapeutic effects of anti-EGFR monoclonal antibody treatment in patients with pretreated metastatic colorectal cancer: the Biomarker Research for anti-EGFR monoclonal Antibodies by Comprehensive Cancer genomics (BREAC) study''.

British Journal Of Cancer

Shinozaki, Eiji E; Yoshino, Takayuki T; Tsuchihara, Katsuya K

Publication Date: 2018-05

Variant appearance in text: BRAF: L525R

PubMed Link: 29563632

Variant Present in the following documents:

• Main text
• 41416_2018_Article_40.pdf

View BVdb publication page

---

Clinical significance of BRAF non-V600E mutations on the therapeutic effects of anti-EGFR monoclonal antibody treatment in patients with pretreated metastatic colorectal cancer: the Biomarker Research for anti-EGFR monoclonal Antibodies by Comprehensive Cancer genomics (BREAC) study.

British Journal Of Cancer

Shinozaki, Eiji E; Yoshino, Takayuki T; Yamazaki, Kentaro K; Muro, Kei K; Yamaguchi, Kensei K; Nishina, Tomohiro T; Yuki, Satoshi S; Shitara, Kohei K; Bando, Hideaki H; Mimaki, Sachiyo S; Nakai, Chikako C; Matsushima, Koutatsu K; Suzuki, Yutaka Y; Akagi, Kiwamu K; Yamanaka, Takeharu T; Nomura, Shogo S; Fujii, Satoshi S; Esumi, Hiroyasu H; Sugiyama, Masaya M; Nishida, Nao N; Mizokami, Masashi M; Koh, Yasuhiro Y; Abe, Yukiko Y; Ohtsu, Atsushi A; Tsuchihara, Katsuya K

Publication Date: 2017-11-07

Variant appearance in text: BRAF: L525R

PubMed Link: 28972961

Variant Present in the following documents:

• Main text
• bjc2017308a.pdf

View BVdb publication page

---