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| A recurrent PDGFRB mutation causes familial infantile myofibromatosis YH Cheung, T Gayden, PM Campeau, CA LeDuc, D Russo, VH Nguyen, ... The American Journal of Human Genetics 92 (6), 996-1000, 2013 | 170 | 2013 |
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| Association of plastin 3 expression with disease severity in spinal muscular atrophy only in postpubertal females G Stratigopoulos, P Lanzano, L Deng, J Guo, P Kaufmann, B Darras, ... Archives of neurology 67 (10), 1252-1256, 2010 | 82 | 2010 |
| New insights into the genetics of fetal megacystis: ACTG2 mutations, encoding γ-2 smooth muscle actin in megacystis microcolon intestinal hypoperistalsis syndrome (Berdon syndrome) L Tuzovic, S Tang, RS Miller, L Rohena, L Shahmirzadi, K Gonzalez, X Li, ... Fetal diagnosis and therapy 38 (4), 296-306, 2015 | 62 | 2015 |
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