Publications:

Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.

Circulation. Cardiovascular Genetics

Regalado, Ellen S ES; Guo, Dong-chuan DC; Prakash, Siddharth S; Bensend, Tracy A TA; Flynn, Kelly K; Estrera, Anthony A; Safi, Hazim H; Liang, David D; Hyland, James J; Child, Anne A; Arno, Gavin G; Boileau, Catherine C; Jondeau, Guillaume G; Braverman, Alan A; Moran, Rocio R; Morisaki, Takayuki T; Morisaki, Hiroko H; , ; Pyeritz, Reed R; Coselli, Joseph J; LeMaire, Scott S; Milewicz, Dianna M DM

Publication Date: 2015-06

Variant appearance in text: HR: R118Q

PubMed Link: 25759435

Variant Present in the following documents:

• Main text

View BVdb publication page

Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.

Nature Genetics

Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C

Publication Date: 2014-05

Variant appearance in text: HR: R118Q

PubMed Link: 24705254

Variant Present in the following documents:

• NIHMS4215-supplement-10.xlsx, sheet 2

View BVdb publication page