PubRank

Douglas A Marchuk

Author PubWeight™ 89.97‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 2013 4.26
2 The cerebral cavernous malformation signaling pathway promotes vascular integrity via Rho GTPases. Nat Med 2009 3.05
3 A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet 2002 2.98
4 A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). Lancet 2004 2.97
5 A quantitative trait locus (LSq-1) on mouse chromosome 7 is linked to the absence of tissue loss after surgical hindlimb ischemia. Circulation 2008 2.77
6 Molecular classification of patients with unexplained hamartomatous and hyperplastic polyposis. JAMA 2005 2.59
7 Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet 2003 2.58
8 CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. Hum Mol Genet 2005 2.52
9 Ccm1 is required for arterial morphogenesis: implications for the etiology of human cavernous malformations. Development 2004 2.35
10 KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis. Hum Mol Genet 2002 2.28
11 Serotonin-related gene polymorphisms and central nervous system serotonin function. Neuropsychopharmacology 2002 1.96
12 Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis. Hum Mol Genet 2008 1.95
13 Fasudil decreases lesion burden in a murine model of cerebral cavernous malformation disease. Stroke 2011 1.91
14 Redefining heart failure: the utility of genomics. J Am Coll Cardiol 2006 1.52
15 Somatic mutation of vascular endothelial growth factor receptors in juvenile hemangioma. Genes Chromosomes Cancer 2002 1.49
16 Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. Am J Med Genet A 2010 1.49
17 Vascular endothelial growth factor induces abnormal microvasculature in the endoglin heterozygous mouse brain. J Cereb Blood Flow Metab 2004 1.44
18 Tnni3k modifies disease progression in murine models of cardiomyopathy. PLoS Genet 2009 1.44
19 Tumor necrosis factor-alpha-238G>A promoter polymorphism is associated with increased risk of new hemorrhage in the natural course of patients with brain arteriovenous malformations. Stroke 2005 1.40
20 A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease. Hum Mol Genet 2010 1.39
21 Influence of serotonin transporter promoter region polymorphisms on hippocampal volumes in late-life depression. Arch Gen Psychiatry 2005 1.39
22 Polymorphisms in genes involved in inflammatory and angiogenic pathways and the risk of hemorrhagic presentation of brain arteriovenous malformations. Stroke 2004 1.39
23 A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2. Hum Mol Genet 2003 1.38
24 Loss of p53 sensitizes mice with a mutation in Ccm1 (KRIT1) to development of cerebral vascular malformations. Am J Pathol 2004 1.30
25 Gene microarray analysis of human brain arteriovenous malformations. Neurosurgery 2004 1.26
26 Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus. Hum Mutat 2006 1.24
27 Increased tissue perfusion promotes capillary dysplasia in the ALK1-deficient mouse brain following VEGF stimulation. Am J Physiol Heart Circ Physiol 2008 1.24
28 Neuronal expression of the Ccm2 gene in a new mouse model of cerebral cavernous malformations. Mamm Genome 2006 1.23
29 Genetic modifier loci affecting survival and cardiac function in murine dilated cardiomyopathy. Circulation 2002 1.21
30 Deletions in CCM2 are a common cause of cerebral cavernous malformations. Am J Hum Genet 2006 1.19
31 Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. Neurogenetics 2004 1.19
32 A locus mapping to mouse chromosome 7 determines infarct volume in a mouse model of ischemic stroke. Circ Cardiovasc Genet 2009 1.19
33 Two genes on A/J chromosome 18 are associated with susceptibility to Staphylococcus aureus infection by combined microarray and QTL analyses. PLoS Pathog 2010 1.17
34 Updates and future horizons on the understanding, diagnosis, and treatment of Sturge-Weber syndrome brain involvement. Dev Med Child Neurol 2011 1.16
35 Genetics of cerebral cavernous malformations. Curr Neurol Neurosci Rep 2005 1.15
36 Advanced magnetic resonance imaging of cerebral cavernous malformations: part II. Imaging of lesions in murine models. Neurosurgery 2008 1.12
37 Multiple quantitative trait loci modify the heart failure phenotype in murine cardiomyopathy. Hum Mol Genet 2003 1.11
38 Skeletal muscle-specific genetic determinants contribute to the differential strain-dependent effects of hindlimb ischemia in mice. Am J Pathol 2012 1.09
39 Childhood socioeconomic status and serotonin transporter gene polymorphism enhance cardiovascular reactivity to mental stress. Psychosom Med 2007 1.04
40 QTL mapping in a mouse model of cardiomyopathy reveals an ancestral modifier allele affecting heart function and survival. Mamm Genome 2005 1.03
41 Apolipoprotein E epsilon 2 is associated with new hemorrhage risk in brain arteriovenous malformations. Neurosurgery 2006 1.01
42 Giant infiltrative cavernous malformation: clinical presentation, intervention, and genetic analysis: case report. Neurosurgery 2004 0.99
43 A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12. Neurogenetics 2006 0.97
44 ALK1 signalling analysis identifies angiogenesis related genes and reveals disparity between TGF-beta and constitutively active receptor induced gene expression. BMC Cardiovasc Disord 2006 0.96
45 Modifier locus on mouse chromosome 3 for renal vascular pathology in AT1A receptor-deficiency. Hypertension 2004 0.95
46 Functional analysis of a mutant form of the receptor tyrosine kinase Tie2 causing venous malformations. J Mol Med (Berl) 2004 0.95
47 Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts. Neurogenetics 2007 0.94
48 Dissection of a quantitative trait locus for PR interval duration identifies Tnni3k as a novel modulator of cardiac conduction. PLoS Genet 2012 0.93
49 Human retroviral gag- and gag-pol-like proteins interact with the transforming growth factor-beta receptor activin receptor-like kinase 1. J Biol Chem 2004 0.91
50 Associations among the NEO Personality Inventory, Revised and the serotonin transporter gene-linked polymorphic region in elders: effects of depression and gender. Psychiatr Genet 2003 0.89
51 Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia. Neurogenetics 2005 0.89
52 Arteriovenous malformation. J Neurosurg 2007 0.87
53 CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations. Ann Neurol 2004 0.87
54 Precocious osteoarthritis in a family with recurrent COL2A1 mutation. J Rheumatol 2006 0.87
55 Highly variable penetrance in subjects affected with cavernous cerebral angiomas (CCM) carrying novel CCM1 and CCM2 mutations. Am J Med Genet B Neuropsychiatr Genet 2007 0.85
56 Allelic differences in the serotonin transporter-linked polymorphic region in geriatric depression. Am J Geriatr Psychiatry 2002 0.85
57 Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia. Hum Mol Genet 2010 0.84
58 A novel genetic locus modulates infarct volume independently of the extent of collateral circulation. Physiol Genomics 2013 0.84
59 Overexpression of TNNI3K, a cardiac-specific MAPKKK, promotes cardiac dysfunction. J Mol Cell Cardiol 2012 0.84
60 Natural genetic variation of integrin alpha L (Itgal) modulates ischemic brain injury in stroke. PLoS Genet 2013 0.84
61 No evidence for maternal-fetal microchimerism in infantile hemangioma: a molecular genetic investigation. J Invest Dermatol 2006 0.83
62 Genomic characterization of POS5, the Saccharomyces cerevisiae mitochondrial NADH kinase. Mitochondrion 2006 0.82
63 An N-ethyl-N-nitrosourea mutagenesis recessive screen identifies two candidate regions for murine cardiomyopathy that map to chromosomes 1 and 15. Mamm Genome 2009 0.82
64 Inhibition of the cardiomyocyte-specific troponin I-interacting kinase limits oxidative stress, injury, and adverse remodeling due to ischemic heart disease. Circ Res 2014 0.77
65 EndoU is a novel regulator of AICD during peripheral B cell selection. J Exp Med 2013 0.76
66 Natural allelic variation of the IL-21 receptor modulates ischemic stroke infarct volume. J Clin Invest 2016 0.75
67 A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations. Genet Med 2011 0.75
68 A needle in a haystack: Sturge-Weber syndrome gene discovery. Pediatr Neurol 2013 0.75