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Regie Santos-Cortez
Regie Santos-Cortez
Associate Professor, Otolaryngology-Head and Neck Surgery
Verified email at cuanschutz.edu
Title
Cited by
Cited by
Year
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome
C Boileau, DC Guo, N Hanna, ES Regalado, D Detaint, L Gong, M Varret, ...
Nature genetics 44 (8), 916-921, 2012
401*2012
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis
LB Watkin, B Jessen, W Wiszniewski, TJ Vece, M Jan, Y Sha, M Thamsen, ...
Nature genetics 47 (6), 654-660, 2015
3392015
Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms
ES Regalado, D Guo, C Villamizar, N Avidan, D Gilchrist, B McGillivray, ...
Circulation research 109 (6), 680-686, 2011
3172011
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections
D Guo, E Regalado, DE Casteel, RL Santos-Cortez, L Gong, JJ Kim, ...
The American Journal of Human Genetics 93 (2), 398-404, 2013
236*2013
LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections
D Guo, ES Regalado, L Gong, X Duan, RLP Santos-Cortez, P Arnaud, ...
Circulation research 118 (6), 928-934, 2016
2052016
RNF213 Rare Variants in an Ethnically Diverse Population With Moyamoya Disease
AC Cecchi, D Guo, Z Ren, K Flynn, RLP Santos-Cortez, SM Leal, ...
Stroke 45 (11), 3200-3207, 2014
1522014
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay
JX Chong, MJ McMillin, KM Shively, AE Beck, CT Marvin, JR Armenteros, ...
The American Journal of Human Genetics 96 (3), 462-473, 2015
1352015
MAT2A mutations predispose individuals to thoracic aortic aneurysms
D Guo, L Gong, ES Regalado, RL Santos-Cortez, R Zhao, B Cai, ...
The American Journal of Human Genetics 96 (1), 170-177, 2015
117*2015
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89
RLP Santos-Cortez, K Lee, Z Azeem, PJ Antonellis, LM Pollock, S Khan, ...
The American Journal of Human Genetics 93 (1), 132-140, 2013
1172013
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86
AU Rehman, RLP Santos-Cortez, RJ Morell, MC Drummond, T Ito, K Lee, ...
The American Journal of Human Genetics 94 (1), 144-152, 2014
106*2014
FOXE3 mutations predispose to thoracic aortic aneurysms and dissections
SQ Kuang, O Medina-Martinez, D Guo, L Gong, ES Regalado, ...
The Journal of clinical investigation 126 (3), 948-961, 2016
1022016
Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non‐syndromic hearing impairment
RLP Santos, M Wajid, TL Pham, J Hussan, G Ali, W Ahmad, SM Leal
Clinical genetics 67 (1), 61-68, 2005
1022005
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness
AU Rehman, JE Bird, R Faridi, M Shahzad, S Shah, K Lee, SN Khan, ...
Human mutation 37 (10), 991-1003, 2016
862016
MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder
G Heimer, JM Kerätär, LG Riley, S Balasubramaniam, E Eyal, ...
The American Journal of Human Genetics 99 (6), 1229-1244, 2016
852016
Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data
Z He, BJ O’Roak, JD Smith, G Wang, S Hooker, RLP Santos-Cortez, B Li, ...
The American Journal of Human Genetics 94 (1), 33-46, 2014
822014
Mutation of ATF6 causes autosomal recessive achromatopsia
M Ansar, RLP Santos-Cortez, MAN Saqib, F Zulfiqar, K Lee, NM Ashraf, ...
Human Genetics 134, 941-950, 2015
812015
Shared genetic risk factors of intracranial, abdominal, and thoracic aneurysms
FNG van’t Hof, YM Ruigrok, CH Lee, S Ripke, G Anderson, M De Andrade, ...
Journal of the American Heart Association 5 (7), e002603, 2016
712016
Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment
RLP Santos, M Wajid, MN Khan, N McArthur, TL Pham, A Bhatti, K Lee, ...
Human mutation 26 (4), 396-396, 2005
702005
Autosomal-dominant multiple pterygium syndrome is caused by mutations in MYH3
JX Chong, LC Burrage, AE Beck, CT Marvin, MJ McMillin, KM Shively, ...
The American Journal of Human Genetics 96 (5), 841-849, 2015
682015
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities
W Wiszniewski, JV Hunter, NA Hanchard, JR Willer, C Shaw, Q Tian, ...
The American Journal of Human Genetics 93 (2), 197-210, 2013
642013
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