Publications:

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: EGFR: A1201T

PubMed Link: 36561320

Variant Present in the following documents:

• Table3.xlsx, sheet 1
• Table2.xlsx, sheet 4

View BVdb publication page

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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: EGFR: 3601G>A; Ala1201Thr

PubMed Link: 35468861

Variant Present in the following documents:

• 13073_2022_1042_MOESM2_ESM.xls, sheet 4

View BVdb publication page

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Investigating the genomic alteration improved the clinical outcome of aged patients with lung carcinoma.

Bmc Genomics

Chen, Sixian S; Fu, Aizhen A; Lu, Yuan Y; Lu, Wei W; Chen, Yongfeng Y; Hong, Shuiqiang S; Zhou, Suli S; Xiang, Tianmin T; Zhang, Zhenzhen Z; Cai, Yongguang Y

Publication Date: 2022-01-15

Variant appearance in text: EGFR: 3601G>A; Ala1201Thr

PubMed Link: 35031014

Variant Present in the following documents:

• 12864_2021_8289_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Investigating the genomic alteration improved the clinical outcome of aged patients with lung carcinoma.

Bmc Genomics

Chen, Sixian S; Fu, Aizhen A; Lu, Yuan Y; Lu, Wei W; Chen, Yongfeng Y; Hong, Shuiqiang S; Zhou, Suli S; Xiang, Tianmin T; Zhang, Zhenzhen Z; Cai, Yongguang Y

Publication Date: 2022-01-15

Variant appearance in text: EGFR: 3601G>A; Ala1201Thr

PubMed Link: 35031014

Variant Present in the following documents:

• 12864_2021_8289_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications

Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ

Publication Date: 2017-05-11

Variant appearance in text: EGFR: A1201T

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086.pdf
• ncomms15086-s3.xlsx, sheet 1

View BVdb publication page

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Clonal evolution of glioblastoma under therapy.

Nature Genetics

Wang, Jiguang J; Cazzato, Emanuela E; Ladewig, Erik E; Frattini, Veronique V; Rosenbloom, Daniel I S DI; Zairis, Sakellarios S; Abate, Francesco F; Liu, Zhaoqi Z; Elliott, Oliver O; Shin, Yong-Jae YJ; Lee, Jin-Ku JK; Lee, In-Hee IH; Park, Woong-Yang WY; Eoli, Marica M; Blumberg, Andrew J AJ; Lasorella, Anna A; Nam, Do-Hyun DH; Finocchiaro, Gaetano G; Iavarone, Antonio A; Rabadan, Raul R

Publication Date: 2016-07

Variant appearance in text: EGFR: A1201T

PubMed Link: 27270107

Variant Present in the following documents:

• Main text

View BVdb publication page

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Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

Nature Communications

Merico, Daniele D; Roifman, Maian M; Braunschweig, Ulrich U; Yuen, Ryan K C RK; Alexandrova, Roumiana R; Bates, Andrea A; Reid, Brenda B; Nalpathamkalam, Thomas T; Wang, Zhuozhi Z; Thiruvahindrapuram, Bhooma B; Gray, Paul P; Kakakios, Alyson A; Peake, Jane J; Hogarth, Stephanie S; Manson, David D; Buncic, Raymond R; Pereira, Sergio L SL; Herbrick, Jo-Anne JA; Blencowe, Benjamin J BJ; Roifman, Chaim M CM; Scherer, Stephen W SW

Publication Date: 2015-11-02

Variant appearance in text: rs369585356

PubMed Link: 26522830

Variant Present in the following documents:

• ncomms9718-s2.xlsx, sheet 3

View BVdb publication page

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