Published in Am J Hum Genet on February 13, 2002
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet (2003) 2.56
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Neuronal loss and brain atrophy in mice lacking cathepsins B and L. Proc Natl Acad Sci U S A (2002) 2.54
VEGFA is necessary for chondrocyte survival during bone development. Development (2004) 2.54
Decreased BMD and limb deformities in mice carrying mutations in both Lrp5 and Lrp6. J Bone Miner Res (2004) 2.46
Vascular endothelial growth factor expression in the retinal pigment epithelium is essential for choriocapillaris development and visual function. Am J Pathol (2005) 2.38
Vascular malformations. Part II: associated syndromes. J Am Acad Dermatol (2007) 2.31
Association of localized intravascular coagulopathy with venous malformations. Arch Dermatol (2008) 2.31
NFATc1 in mice represses osteoprotegerin during osteoclastogenesis and dissociates systemic osteopenia from inflammation in cherubism. J Clin Invest (2008) 2.29
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A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. Proc Natl Acad Sci U S A (2004) 2.19
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Corticosteroid suppression of VEGF-A in infantile hemangioma-derived stem cells. N Engl J Med (2010) 2.16
Lack of collagen XVIII/endostatin results in eye abnormalities. EMBO J (2002) 2.13
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet (2003) 2.10
Multipotential stem cells recapitulate human infantile hemangioma in immunodeficient mice. J Clin Invest (2008) 2.10
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Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nat Genet (2013) 1.82
Variation in IRF6 contributes to nonsyndromic cleft lip and palate. Am J Med Genet A (2005) 1.82
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med (2010) 1.81
TFAP2A mutations result in branchio-oculo-facial syndrome. Am J Hum Genet (2008) 1.79
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Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. Hum Mutat (2004) 1.61
Extracranial arteriovenous malformations: natural progression and recurrence after treatment. Plast Reconstr Surg (2010) 1.61
KITLG mutations cause familial progressive hyper- and hypopigmentation. J Invest Dermatol (2011) 1.59
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Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet (2009) 1.47
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