Publications:

Homozygous duplication identified by whole genome sequencing causes LRBA deficiency.

Npj Genomic Medicine

Merico, Daniele D; Pasternak, Yehonatan Y; Zarrei, Mehdi M; Higginbotham, Edward J EJ; Thiruvahindrapuram, Bhooma B; Scott, Ori O; Willett-Pachul, Jessica J; Grunebaum, Eyal E; Upton, Julia J; Atkinson, Adelle A; Kim, Vy H D VHD; Aliyev, Elbay E; Fakhro, Khalid K; Scherer, Stephen W SW; Roifman, Chaim M CM

Publication Date: 2021-11-18

Variant appearance in text: RUNX2: V174M

PubMed Link: 34795304

Variant Present in the following documents:

• 41525_2021_263_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

RUNX3 methylation drives hypoxia-induced cell proliferation and antiapoptosis in early tumorigenesis.

Cell Death And Differentiation

Lee, Sun Hee SH; Hyeon, Do Young DY; Yoon, Soo-Hyun SH; Jeong, Ji-Hak JH; Han, Saeng-Myung SM; Jang, Ju-Won JW; Nguyen, Minh Phuong MP; Chi, Xin-Zi XZ; An, Sojin S; Hyun, Kyung-Gi KG; Jung, Hee-Jung HJ; Song, Ji-Joon JJ; Bae, Suk-Chul SC; Kim, Woo-Ho WH; Hwang, Daehee D; Lee, You Mie YM

Publication Date: 2021-04

Variant appearance in text: RUNX2: V174M

PubMed Link: 33116296

Variant Present in the following documents:

• Main text
• 41418_2020_Article_647.pdf

View BVdb publication page

RUNX3 methylation drives hypoxia-induced cell proliferation and antiapoptosis in early tumorigenesis.

Cell Death And Differentiation

Lee, Sun Hee SH; Hyeon, Do Young DY; Yoon, Soo-Hyun SH; Jeong, Ji-Hak JH; Han, Saeng-Myung SM; Jang, Ju-Won JW; Nguyen, Minh Phuong MP; Chi, Xin-Zi XZ; An, Sojin S; Hyun, Kyung-Gi KG; Jung, Hee-Jung HJ; Song, Ji-Joon JJ; Bae, Suk-Chul SC; Kim, Woo-Ho WH; Hwang, Daehee D; Lee, You Mie YM

Publication Date: 2021-04

Variant appearance in text: RUNX2: V174M

PubMed Link: 33116296

Variant Present in the following documents:

• Main text
• 41418_2020_Article_647.pdf

View BVdb publication page