Publications:

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: rs377549345

PubMed Link: 35768438

Variant Present in the following documents:

• 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: SMARCA4: 1274G>A; Arg425Gln; rs377549345

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.

Nature Communications

Fernando, Tharu M TM; Piskol, Robert R; Bainer, Russell R; Sokol, Ethan S ES; Trabucco, Sally E SE; Zhang, Qing Q; Trinh, Huong H; Maund, Sophia S; Kschonsak, Marc M; Chaudhuri, Subhra S; Modrusan, Zora Z; Januario, Thomas T; Yauch, Robert L RL

Publication Date: 2020-11-03

Variant appearance in text: SMARCA4: R425Q

PubMed Link: 33144586

Variant Present in the following documents:

• 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1

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High-depth sequencing of over 750 genes supports linear progression of primary tumors and metastases in most patients with liver-limited metastatic colorectal cancer.

Genome Biology

Tan, Iain Beehuat IB; Malik, Simeen S; Ramnarayanan, Kalpana K; McPherson, John R JR; Ho, Dan Liang DL; Suzuki, Yuka Y; Ng, Sarah Boonhsui SB; Yan, Su S; Lim, Kiat Hon KH; Koh, Dennis D; Hoe, Chew Min CM; Chan, Chung Yip CY; Ten, Rachel R; Goh, Brian Kp BK; Chung, Alexander Yf AY; Tan, Joanna J; Chan, Cheryl Xueli CX; Tay, Su Ting ST; Alexander, Lezhava L; Nagarajan, Niranjan N; Hillmer, Axel M AM; Tang, Choon Leong CL; Chua, Clarinda C; Teh, Bin Tean BT; Rozen, Steve S; Tan, Patrick P

Publication Date: 2015-02-12

Variant appearance in text: SMARCA4: R425Q

PubMed Link: 25808843

Variant Present in the following documents:

• 13059_2015_589_MOESM4_ESM.pdf

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The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics

Vandeweyer, Geert G; Helsmoortel, Céline C; Van Dijck, Anke A; Vulto-van Silfhout, Anneke T AT; Coe, Bradley P BP; Bernier, Raphael R; Gerdts, Jennifer J; Rooms, Liesbeth L; van den Ende, Jenneke J; Bakshi, Madhura M; Wilson, Meredith M; Nordgren, Ann A; Hendon, Laura G LG; Abdulrahman, Omar A OA; Romano, Corrado C; de Vries, Bert B A BB; Kleefstra, Tjitske T; Eichler, Evan E EE; Van der Aa, Nathalie N; Kooy, R Frank RF

Publication Date: 2014-09

Variant appearance in text: SMARCA4: R425Q

PubMed Link: 25169753

Variant Present in the following documents:

• Main text

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