Published in J Med Genet on November 26, 2010
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Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. N Engl J Med (2010) 2.82
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Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet (2003) 1.94
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Mutation update on the CHD7 gene involved in CHARGE syndrome. Hum Mutat (2012) 1.74
A randomized controlled trial of cognitive behavioral therapy for individuals at clinical high risk of psychosis. Schizophr Res (2010) 1.68
Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. J Invest Dermatol (2003) 1.67
Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status. Hum Mol Genet (2004) 1.66
The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. Hum Mutat (2011) 1.65
Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives? Heart (2011) 1.63
BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes. Oncogene (2005) 1.62
Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Nat Genet (2012) 1.61
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. Hum Mutat (2012) 1.61
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. J Invest Dermatol (2007) 1.57
Surgical management of epidermolysis bullosa: Proceedings of the IInd International Symposium on Epidermolysis Bullosa, Santiago, Chile, 2005. Int J Dermatol (2007) 1.56
Genomic analysis of pilocytic astrocytomas at 0.97 Mb resolution shows an increasing tendency toward chromosomal copy number change with age. J Neuropathol Exp Neurol (2006) 1.54
HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa. J Invest Dermatol (2011) 1.54
Decreased androgen receptor expression may contribute to spermatogenesis failure in rats exposed to low concentration of bisphenol A. Toxicol Lett (2013) 1.52
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Increased expression of integrin α6β4 in the basement membrane zone lining the sebaceous glands in hidradenitis suppurativa. Acta Derm Venereol (2015) 1.47
Revertant mosaicism in Kindler syndrome. J Invest Dermatol (2011) 1.47
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. Am J Hum Genet (2005) 1.47
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa. Acta Derm Venereol (2011) 1.46
High-molecular-weight aggregates in repackaged bevacizumab. Retina (2010) 1.45
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Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol (2011) 1.45
Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations. J Invest Dermatol (2012) 1.45
Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes. Hum Mutat (2008) 1.44
Enhanced Thermostability of Arabidopsis Rubisco activase improves photosynthesis and growth rates under moderate heat stress. Plant Cell (2007) 1.44
Keratin 14-null cells as a model to test the efficacy of gene therapy approaches in epithelial cells. J Invest Dermatol (2011) 1.44
Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome. Genes Chromosomes Cancer (2009) 1.43
Risk of squamous cell carcinoma in junctional epidermolysis bullosa, non-Herlitz type: report of 7 cases and a review of the literature. J Am Acad Dermatol (2011) 1.43
High-resolution array-based comparative genomic hybridization of medulloblastomas and supratentorial primitive neuroectodermal tumors. J Neuropathol Exp Neurol (2006) 1.43
RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors. Endocr Rev (2006) 1.41
Genomewide linkage scan for schizophrenia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 10q22. Am J Hum Genet (2003) 1.40
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet (2012) 1.40
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet (2010) 1.40
Dexamethasone pulse therapy for Stevens-Johnson syndrome/toxic epidermal necrolysis. Acta Derm Venereol (2007) 1.39
Pigmentation and melanocyte supply to the epidermis depend on type XVII collagen. Exp Dermatol (2014) 1.39
Dilated cardiomyopathy in epidermolysis bullosa: a retrospective, multicenter study. Pediatr Dermatol (2010) 1.39
Autoantibodies to extracellular matrix protein 1 in lichen sclerosus. Lancet (2003) 1.39
PDGFRalpha-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia. Proc Natl Acad Sci U S A (2011) 1.38
Genetic diseases of junctions. J Invest Dermatol (2007) 1.38
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. Am Heart J (2007) 1.38
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy. Hum Mutat (2009) 1.38