Role of COL4A1 in small-vessel disease and hemorrhagic stroke DB Gould, FC Phalan, SE Van Mil, JP Sundberg, K Vahedi, P Massin, ... New England Journal of Medicine 354 (14), 1489-1496, 2006 | 665 | 2006 |
Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly DB Gould, FC Phalan, GJ Breedveld, SE Van Mil, RS Smith, JC Schimenti, ... Science 308 (5725), 1167-1171, 2005 | 631 | 2005 |
Allosteric inhibition of the IRE1α RNase preserves cell viability and function during endoplasmic reticulum stress R Ghosh, L Wang, ES Wang, BGK Perera, A Igbaria, S Morita, K Prado, ... Cell 158 (3), 534-548, 2014 | 510 | 2014 |
The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus T Kume, KY Deng, V Winfrey, DB Gould, MA Walter, BLM Hogan Cell 93 (6), 985-996, 1998 | 435 | 1998 |
Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly AJ Mears, T Jordan, F Mirzayans, S Dubois, T Kume, M Parlee, R Ritch, ... The American Journal of Human Genetics 63 (5), 1316-1328, 1998 | 392 | 1998 |
COL4A1 and COL4A2 mutations and disease: insights into pathogenic mechanisms and potential therapeutic targets DS Kuo, C Labelle-Dumais, DB Gould Human molecular genetics 21 (R1), R97-R110, 2012 | 333 | 2012 |
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke M Jeanne, C Labelle-Dumais, J Jorgensen, WB Kauffman, GM Mancini, ... The American Journal of Human Genetics 90 (1), 91-101, 2012 | 243 | 2012 |
Complex genetics of glaucoma susceptibility RT Libby, DB Gould, MG Anderson, SWM John Annu. Rev. Genomics Hum. Genet. 6 (1), 15-44, 2005 | 231 | 2005 |
Anterior segment development relevant to glaucoma DB Gould, RS Smith, SWM John International Journal of Developmental Biology 48 (8-9), 1015-1029, 2004 | 231 | 2004 |
Anterior segment dysgenesis and the developmental glaucomas are complex traits DB Gould, SWM John Human molecular genetics 11 (10), 1185-1193, 2002 | 204 | 2002 |
Novel mutations in three families confirm a major role of COL4A1 in hereditary porencephaly G Breedveld, IF De Coo, MH Lequin, WFM Arts, P Heutink, DB Gould, ... Journal of medical genetics 43 (6), 490-495, 2006 | 202 | 2006 |
High-dose radiation with bone marrow transfer prevents neurodegeneration in an inherited glaucoma MG Anderson, RT Libby, DB Gould, RS Smith, SWM John Proceedings of the National Academy of Sciences 102 (12), 4566-4571, 2005 | 162 | 2005 |
Genetically Increasing Myoc Expression Supports a Necessary Pathologic Role of Abnormal Proteins in Glaucoma DB Gould, L Miceli-Libby, OV Savinova, M Torrado, SI Tomarev, RS Smith, ... Molecular and cellular biology 24 (20), 9019-9025, 2004 | 155 | 2004 |
COL4A1 Mutations Cause Ocular Dysgenesis, Neuronal Localization Defects, and Myopathy in Mice and Walker-Warburg Syndrome in Humans C Labelle-Dumais, DJ Dilworth, EP Harrington, M de Leau, D Lyons, ... PLoS genetics 7 (5), e1002062, 2011 | 152 | 2011 |
Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25 F Mirzayans, DB Gould, E Heon, GD Billingsley, JC Cheung, AJ Mears, ... European Journal of Human Genetics 8 (1), 71-74, 2000 | 152 | 2000 |
COL4A1 mutations in patients with sporadic late‐onset intracerebral hemorrhage YC Weng, A Sonni, C Labelle‐Dumais, M de Leau, WB Kauffman, ... Annals of neurology 71 (4), 470-477, 2012 | 149 | 2012 |
Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis DB Gould, JK Marchant, OV Savinova, RS Smith, SWM John Human molecular genetics 16 (7), 798-807, 2007 | 147 | 2007 |
COL4A2 mutation associated with familial porencephaly and small-vessel disease E Verbeek, MEC Meuwissen, FW Verheijen, PP Govaert, DJ Licht, ... European journal of human genetics 20 (8), 844-851, 2012 | 126 | 2012 |
Molecular and genetic analyses of collagen type IV mutant mouse models of spontaneous intracerebral hemorrhage identify mechanisms for stroke prevention M Jeanne, J Jorgensen, DB Gould Circulation 131 (18), 1555-1565, 2015 | 123 | 2015 |
Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations M Jeanne, DB Gould Matrix Biology 57, 29-44, 2017 | 117 | 2017 |