Publications:

Reprogramming of bivalent chromatin states in NRAS mutant melanoma suggests PRC2 inhibition as a therapeutic strategy.

Cell Reports

Terranova, Christopher J CJ; Tang, Ming M; Maitituoheti, Mayinuer M; Raman, Ayush T AT; Ghosh, Archit K AK; Schulz, Jonathan J; Amin, Samir B SB; Orouji, Elias E; Tomczak, Katarzyna K; Sarkar, Sharmistha S; Oba, Junna J; Creasy, Caitlin C; Wu, Chang-Jiun CJ; Khan, Samia S; Lazcano, Rossana R; Wani, Khalida K; Singh, Anand A; Barrodia, Praveen P; Zhao, Dongyu D; Chen, Kaifu K; Haydu, Lauren E LE; Wang, Wei-Lien WL; Lazar, Alexander J AJ; Woodman, Scott E SE; Bernatchez, Chantale C; Rai, Kunal K

Publication Date: 2021-07-20

Variant appearance in text: CSMD1: E1276K

PubMed Link: 34289358

Variant Present in the following documents:

• NIHMS1727018-supplement-2.xlsx, sheet 2

View BVdb publication page

Molecular alterations in basal cell carcinoma subtypes.

Scientific Reports

Di Nardo, Lucia L; Pellegrini, Cristina C; Di Stefani, Alessandro A; Ricci, Francesco F; Fossati, Barbara B; Del Regno, Laura L; Carbone, Carmine C; Piro, Geny G; Corbo, Vincenzo V; Delfino, Pietro P; De Summa, Simona S; Maturo, Maria Giovanna MG; Rocco, Tea T; Tortora, Giampaolo G; Fargnoli, Maria Concetta MC; Peris, Ketty K

Publication Date: 2021-06-24

Variant appearance in text: rs534926586

PubMed Link: 34168209

Variant Present in the following documents:

• 41598_2021_92592_MOESM3_ESM.xlsx, sheet 1
• 41598_2021_92592_MOESM4_ESM.xlsx, sheet 1

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Exome sequencing study of 20 patients with high myopia.

Peerj

Wan, Ling L; Deng, Boling B; Wu, Zhengzheng Z; Chen, Xiaoming X

Publication Date: 2018

Variant appearance in text: CSMD1: 3826G>A; Glu1276Lys; rs534926586

PubMed Link: 30245926

Variant Present in the following documents:

• Main text
• peerj-06-5552.pdf

View BVdb publication page

De novo genic mutations among a Chinese autism spectrum disorder cohort.

Nature Communications

Wang, Tianyun T; Guo, Hui H; Xiong, Bo B; Stessman, Holly A F HA; Wu, Huidan H; Coe, Bradley P BP; Turner, Tychele N TN; Liu, Yanling Y; Zhao, Wenjing W; Hoekzema, Kendra K; Vives, Laura L; Xia, Lu L; Tang, Meina M; Ou, Jianjun J; Chen, Biyuan B; Shen, Yidong Y; Xun, Guanglei G; Long, Min M; Lin, Janice J; Kronenberg, Zev N ZN; Peng, Yu Y; Bai, Ting T; Li, Honghui H; Ke, Xiaoyan X; Hu, Zhengmao Z; Zhao, Jingping J; Zou, Xiaobing X; Xia, Kun K; Eichler, Evan E EE

Publication Date: 2016-11-08

Variant appearance in text: CSMD1: 3826G>A; Glu1276Lys

PubMed Link: 27824329

Variant Present in the following documents:

• ncomms13316-s5.xlsx, sheet 1

View BVdb publication page