| 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 | 422 | 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 | 377 | 2015 |
| 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 | 331 | 2011 |
| 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 | 252* | 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 | 224 | 2016 |
| 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 | 165 | 2014 |
| 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 | 145 | 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 | 126 | 2013 |
| 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 | 124* | 2015 |
| 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 | 111 | 2016 |
| 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 | 108* | 2014 |
| 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 | 105 | 2005 |
| 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 | 95 | 2016 |
| 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 | 92 | 2016 |
| 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 | 88 | 2015 |
| 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 | 86 | 2014 |
| Delineation of a human Mendelian disorder of the DNA demethylation machinery: TET3 deficiency DB Beck, A Petracovici, C He, HW Moore, RJ Louie, M Ansar, S Douzgou, ... The American Journal of Human Genetics 106 (2), 234-245, 2020 | 81 | 2020 |
| 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 | 72 | 2005 |
| 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 | 71 | 2016 |
| 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 | 71 | 2015 |
