PubRank

John A McGrath

Author PubWeight™ 138.81‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 2008 3.72
2 Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. J Invest Dermatol 2008 3.34
3 Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios. Am J Hum Genet 2005 3.03
4 Bone marrow transplantation for recessive dystrophic epidermolysis bullosa. N Engl J Med 2010 2.82
5 Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet 2003 2.73
6 Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet 2002 2.41
7 Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet 2010 2.38
8 Prediction of real-world functional disability in chronic mental disorders: a comparison of schizophrenia and bipolar disorder. Am J Psychiatry 2010 2.35
9 The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. Exp Dermatol 2007 1.98
10 Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. J Invest Dermatol 2004 1.95
11 Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet 2003 1.94
12 Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. J Invest Dermatol 2003 1.67
13 The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations. Hum Mutat 2011 1.65
14 Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression. J Invest Dermatol 2007 1.57
15 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
16 Revertant mosaicism in Kindler syndrome. J Invest Dermatol 2011 1.47
17 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
18 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
19 Autoantibodies to extracellular matrix protein 1 in lichen sclerosus. Lancet 2003 1.39
20 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
21 Genetic diseases of junctions. J Invest Dermatol 2007 1.38
22 Genomewide linkage scan for bipolar-disorder susceptibility loci among Ashkenazi Jewish families. Am J Hum Genet 2004 1.29
23 Fine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophrenia. Am J Hum Genet 2009 1.27
24 Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet 2006 1.21
25 Relationship of the Brief UCSD Performance-based Skills Assessment (UPSA-B) to multiple indicators of functioning in people with schizophrenia and bipolar disorder. Bipolar Disord 2010 1.19
26 LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum. J Invest Dermatol 2005 1.19
27 Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability. J Cell Sci 2003 1.16
28 Progress in epidermolysis bullosa research: toward treatment and cure. J Invest Dermatol 2010 1.16
29 Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol 2002 1.15
30 Diseases of epidermal keratins and their linker proteins. Exp Cell Res 2007 1.13
31 Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol 2006 1.12
32 Sensitivity and specificity of the UCSD Performance-based Skills Assessment (UPSA-B) for identifying functional milestones in schizophrenia. Schizophr Res 2011 1.11
33 Kindler syndrome. Dermatol Clin 2010 1.11
34 Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis. Am J Hum Genet 2008 1.10
35 Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene. J Invest Dermatol 2006 1.10
36 Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nat Genet 2012 1.08
37 Fibroblast-derived dermal matrix drives development of aggressive cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa. Cancer Res 2012 1.07
38 Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high-affinity protein/protein interactions. Exp Dermatol 2006 1.07
39 A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease. J Invest Dermatol 2006 1.04
40 Progress in Epidermolysis bullosa research: summary of DEBRA International Research Conference 2012. J Invest Dermatol 2013 1.04
41 Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1. J Invest Dermatol 2003 1.04
42 Novel molecular therapies for heritable skin disorders. J Invest Dermatol 2011 1.03
43 Revertant mosaicism in skin: natural gene therapy. Trends Mol Med 2010 1.03
44 A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes. Hum Mol Genet 2008 1.02
45 Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen. J Cell Sci 2009 1.01
46 Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin. Neuromuscul Disord 2010 0.99
47 Molecular and neurological characterizations of three Saudi families with lipoid proteinosis. BMC Med Genet 2011 0.99
48 A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. J Invest Dermatol 2010 0.98
49 Animal models of epidermolysis bullosa: update 2010. J Invest Dermatol 2010 0.98
50 Novel mutation in a child with Goltz syndrome. Indian J Pediatr 2011 0.98
51 Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation. Acta Derm Venereol 2009 0.96
52 Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene. J Dermatol Sci 2007 0.96
53 Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1. J Am Acad Dermatol 2006 0.96
54 Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations. Ophthalmology 2011 0.96
55 Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. J Invest Dermatol 2002 0.95
56 Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis. Eur J Hum Genet 2010 0.95
57 Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases. J Dermatol Sci 2005 0.95
58 An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. Hum Mol Genet 2003 0.95
59 Development of antigen-specific ELISA for circulating autoantibodies to extracellular matrix protein 1 in lichen sclerosus. J Clin Invest 2004 0.93
60 Neonatal diagnosis of Kindler syndrome. J Dermatol Sci 2005 0.93
61 Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes. J Invest Dermatol 2002 0.93
62 Linkage analysis of plasma dopamine β-hydroxylase activity in families of patients with schizophrenia. Hum Genet 2011 0.92
63 Revertant mosaicism in recessive dystrophic epidermolysis bullosa. J Invest Dermatol 2010 0.92
64 Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression. J Invest Dermatol 2011 0.92
65 Visual inspection with acetic acid as a cervical cancer test: accuracy validated using latent class analysis. BMC Med Res Methodol 2007 0.92
66 Treatment of hereditary epidermolysis bullosa: updates and future prospects. Am J Clin Dermatol 2014 0.91
67 Impairment in functional capacity as an endophenotype candidate in severe mental illness. Schizophr Bull 2011 0.91
68 Kindler syndrome: a new mutation and new diagnostic possibilities. Arch Dermatol 2006 0.91
69 Five new homozygous mutations in the KIND1 gene in Kindler syndrome. J Invest Dermatol 2007 0.91
70 Social competence and observer-rated social functioning in bipolar disorder. Bipolar Disord 2010 0.90
71 Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa. J Invest Dermatol 2002 0.90
72 Acral peeling skin syndrome: a clinically and genetically heterogeneous disorder. Pediatr Dermatol 2011 0.90
73 Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A. Pediatr Dermatol 2013 0.90
74 Preconditioning of mesenchymal stem cells for improved transplantation efficacy in recessive dystrophic epidermolysis bullosa. Stem Cell Res Ther 2014 0.89
75 The molecular skin pathology of familial primary localized cutaneous amyloidosis. Exp Dermatol 2010 0.89
76 Extracellular matrix protein 1 interacts with the domain III of fibulin-1C and 1D variants through its central tandem repeat 2. Biochem Biophys Res Commun 2005 0.88
77 Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome. Am J Hum Genet 2012 0.88
78 Detection of SNP-SNP interactions in trios of parents with schizophrenic children. Genet Epidemiol 2010 0.88
79 Impact of next generation sequencing on diagnostics in a genetic skin disease clinic. Exp Dermatol 2013 0.88
80 Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense. J Invest Dermatol 2005 0.88
81 Association of obesity and treated hypertension and diabetes with cognitive ability in bipolar disorder and schizophrenia. Bipolar Disord 2014 0.87
82 An indirect test of the new mutation hypothesis associating advanced paternal age with the etiology of schizophrenia. Am J Med Genet B Neuropsychiatr Genet 2004 0.86
83 Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome. Acta Derm Venereol 2005 0.86
84 Stage II follow-up on a linkage scan for bipolar disorder in the Ashkenazim provides suggestive evidence for chromosome 12p and the GRIN2B gene. Genet Med 2007 0.86
85 Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children. J Invest Dermatol 2010 0.85
86 Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities. J Invest Dermatol 2006 0.85
87 Novel and recurrent FERMT1 gene mutations in Kindler syndrome. Acta Derm Venereol 2011 0.85
88 Recurrent European missense mutation in the F12 gene in a British family with type III hereditary angioedema. J Dermatol Sci 2009 0.85
89 Serum levels of high mobility group box 1 correlate with disease severity in recessive dystrophic epidermolysis bullosa. Exp Dermatol 2013 0.84
90 Determinants of occupational and residential functioning in bipolar disorder. J Affect Disord 2011 0.84
91 Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation, p.Cys107X, in WNT10A. Australas J Dermatol 2011 0.84
92 Three-dimensional imaging reveals major changes in skin microvasculature in lipoid proteinosis and lichen sclerosus. J Dermatol Sci 2005 0.84
93 Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation. Am J Pathol 2009 0.82
94 Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene. Australas J Dermatol 2011 0.82
95 KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome. J Invest Dermatol 2007 0.82
96 Prenatal diagnosis of epidermolysis bullosa. Dermatol Clin 2010 0.81
97 Intra-familial variability of ectodermal defects associated with WNT10A mutations. Acta Derm Venereol 2011 0.81
98 Next-generation diagnostics for inherited skin disorders. J Invest Dermatol 2011 0.81
99 Molecular basis of lipoid proteinosis in two Indian siblings. J Dermatol 2004 0.81
100 The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1. J Invest Dermatol 2006 0.81
101 Familial primary localized cutaneous amyloidosis in Brazil. Arch Dermatol 2009 0.80
102 The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen. J Med Genet 2010 0.80
103 Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndrome. Am J Med Genet A 2006 0.79
104 Reduced expression of insulin-like growth factor-binding protein-3 (IGFBP-3) in Squamous cell carcinoma complicating recessive dystrophic epidermolysis bullosa. J Invest Dermatol 2004 0.79
105 Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies. Ann Med 2014 0.79
106 Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation in WNT10A. J Dermatol Sci 2010 0.79
107 What is Kindler syndrome? Skinmed 2011 0.79
108 Epidermolysis bullosa pruriginosa masquerading as psychogenic pruritus. Arch Dermatol 2011 0.78
109 New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter. Acta Derm Venereol 2009 0.78
110 A novel OSMR mutation in familial primary localized cutaneous amyloidosis in a Japanese family. J Dermatol Sci 2009 0.78
111 Bone metabolism in children with epidermolysis bullosa. J Pediatr 2002 0.78
112 Bone marrow transplantation in epidermolysis bullosa. Immunotherapy 2012 0.77
113 Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation. J Pediatr Gastroenterol Nutr 2008 0.77
114 Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa. J Am Acad Dermatol 2007 0.77
115 Common IL-31 gene haplotype associated with non-atopic eczema is not implicated in epidermolysis bullosa pruriginosa. Acta Derm Venereol 2010 0.77
116 On Medawar's 'Actively acquired tolerance of foreign cells'. Exp Dermatol 2014 0.77
117 Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies. J Invest Dermatol 2002 0.77
118 Hyaline fibromatosis syndrome resulting from a new homozygous missense mutation, p.Gly116Val, in ANTXR2. J Dermatol 2013 0.76
119 Desmosomes exhibit site-specific features in human palm skin. Exp Dermatol 2003 0.76
120 Case of Kindler syndrome resulting from mutation in the FERMT1 gene. J Dermatol 2012 0.76
121 Type VII collagen regulates expression of OATP1B3, promotes front-to-rear polarity and increases structural organisation in 3D spheroid cultures of RDEB tumour keratinocytes. J Cell Sci 2013 0.76
122 New insights into hereditary angio-oedema: Molecular diagnosis and therapy. Australas J Dermatol 2010 0.76
123 Novel TGM5 mutations in acral peeling skin syndrome. Exp Dermatol 2015 0.76
124 Blistering skin diseases: a bridge between dermatopathology and molecular biology. Histopathology 2010 0.76
125 Molecular genetics as a diagnostic and prognostic aid in the assessment of neonates with red, scaly genodermatoses: work still in progress. Arch Dermatol 2008 0.75
126 No evidence that human papillomavirus is responsible for the aggressive nature of recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma. J Invest Dermatol 2010 0.75
127 Rapid diagnosis of lipoid proteinosis using an anti-extracellular matrix protein 1 (ECM1) antibody. J Dermatol Sci 2004 0.75
128 Strategies to identify disease genes. Drugs Today (Barc) 2002 0.75
129 A Th2 cytokine interleukin-31 signature in a case of sporadic lichen amyloidosis. Acta Derm Venereol 2015 0.75
130 [2470insG, represents the commonest mutation in Mexican patients with dystrophic bullous epidermolysis. A study of 21 families]. Gac Med Mex 2006 0.75
131 Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa. J Dermatol Sci 2006 0.75
132 Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation. JAMA Dermatol 2013 0.75
133 Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function. Acta Derm Venereol 2016 0.75
134 Categorizing immunoflourescence mapping in epidermolysis bullosa with pyloric atresia: Use as a broad prognostic indicator. Australas J Dermatol 2010 0.75
135 Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4). Turk J Pediatr 2016 0.75
136 Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa. J Dermatol Sci 2011 0.75
137 Late diagnosis of ectodermal dysplasia syndrome. Australas J Dermatol 2012 0.75
138 Next-generation diagnostics for genodermatoses. J Invest Dermatol 2012 0.75
139 Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR. Acta Derm Venereol 2015 0.75
140 Pachyonychia congenita: cast in translation. J Invest Dermatol 2011 0.75