PubRank

Richard A Spritz

Author PubWeight™ 64.43‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 NALP1 in vitiligo-associated multiple autoimmune disease. N Engl J Med 2007 3.99
2 Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families. Pigment Cell Res 2003 3.07
3 Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet 2003 2.78
4 Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. N Engl J Med 2010 2.47
5 Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. Nat Genet 2012 1.81
6 Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A 2003 1.72
7 Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet 2002 1.67
8 Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet 2003 1.54
9 Fine-mapping of vitiligo susceptibility loci on chromosomes 7 and 9 and interactions with NLRP1 (NALP1). J Invest Dermatol 2009 1.51
10 Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo. Pigment Cell Res 2005 1.50
11 Biomedical discovery acceleration, with applications to craniofacial development. PLoS Comput Biol 2009 1.49
12 The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation. Proc Natl Acad Sci U S A 2003 1.46
13 Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet 2002 1.39
14 A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. Invest Ophthalmol Vis Sci 2008 1.39
15 The rat Ruby ( R) locus is Rab38: identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain. Mamm Genome 2004 1.29
16 Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells. Proc Natl Acad Sci U S A 2005 1.28
17 Common variants in FOXP1 are associated with generalized vitiligo. Nat Genet 2010 1.25
18 Novel vitiligo susceptibility loci on chromosomes 7 (AIS2) and 8 (AIS3), confirmation of SLEV1 on chromosome 17, and their roles in an autoimmune diathesis. Am J Hum Genet 2004 1.15
19 Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP. J Invest Dermatol 2010 1.14
20 Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8. J Invest Dermatol 2009 1.14
21 The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles. J Biol Chem 2003 1.13
22 NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1β processing via the NLRP1 inflammasome. Proc Natl Acad Sci U S A 2013 1.12
23 Side population cells from human melanoma tumors reveal diverse mechanisms for chemoresistance. J Invest Dermatol 2012 1.12
24 Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol 2006 1.12
25 Spatial and temporal analysis of gene expression during growth and fusion of the mouse facial prominences. PLoS One 2009 1.11
26 Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. J Invest Dermatol 2008 1.09
27 Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2. Hum Mol Genet 2002 1.09
28 Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo. J Invest Dermatol 2005 1.08
29 A Melanoma Brain Metastasis with a Donor-Patient Hybrid Genome following Bone Marrow Transplantation: First Evidence for Fusion in Human Cancer. PLoS One 2013 1.08
30 Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset. J Invest Dermatol 2011 1.08
31 Next-generation DNA re-sequencing identifies common variants of TYR and HLA-A that modulate the risk of generalized vitiligo via antigen presentation. J Invest Dermatol 2012 1.07
32 Genetic variations in NALP1 are associated with generalized vitiligo in a Romanian population. J Invest Dermatol 2007 1.03
33 PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not. J Invest Dermatol 2008 1.00
34 Frontiers and controversies in the pathobiology of vitiligo: separating the wheat from the chaff. Exp Dermatol 2009 0.99
35 A genomewide screen for generalized vitiligo: confirmation of AIS1 on chromosome 1p31 and evidence for additional susceptibility loci. Am J Hum Genet 2003 0.99
36 High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. J Invest Dermatol 2005 0.96
37 HLA class II haplotype DRB1*04-DQB1*0301 contributes to risk of familial generalized vitiligo and early disease onset. Pigment Cell Res 2006 0.93
38 The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules. Blood 2006 0.92
39 A Romanian population isolate with high frequency of vitiligo and associated autoimmune diseases. Arch Dermatol 2008 0.92
40 Differential effects of donor and recipient IL28B and DDX58 SNPs on severity of HCV after liver transplantation. J Hepatol 2013 0.90
41 Mutation analysis of the PVRL1 gene in caucasians with nonsyndromic cleft lip/palate. Genet Test Mol Biomarkers 2009 0.85
42 CTLA4 and generalized vitiligo: two genetic association studies and a meta-analysis of published data. Pigment Cell Melanoma Res 2009 0.84
43 Analysis of genomewide association signals for nonsyndromic cleft lip/palate in a Kenya African Cohort. Am J Med Genet A 2011 0.83
44 Mosaic supernumerary inv dup(15) chromosome with four copies of the P gene in a boy with pigmentary dysplasia. Am J Med Genet A 2004 0.82
45 The common MTHFR C677T and A1298C variants are not associated with the risk of non-syndromic cleft lip/palate in northern Venezuela. J Genet Genomics 2009 0.82
46 The PTPN22-1858C>T (R620W) functional polymorphism is associated with generalized vitiligo in the Romanian population. Pigment Cell Melanoma Res 2008 0.82
47 Association of generalized vitiligo with MHC class II loci in patients from the Indian subcontinent. J Invest Dermatol 2013 0.81
48 Major association of vitiligo with HLA-A*02:01 in Japanese. Pigment Cell Melanoma Res 2015 0.80
49 Risk of generalized vitiligo is associated with the common 55R-94A-247H variant haplotype of GZMB (encoding granzyme B). J Invest Dermatol 2013 0.79
50 Vitiligo-associated multiple autoimmune disease is not associated with genetic variation in AIRE. Pigment Cell Res 2007 0.78
51 Facial morphometrics of children with non-syndromic orofacial clefts in Tanzania. BMC Oral Health 2014 0.77
52 Mutation and association analysis of the PVR and PVRL2 genes in patients with non-syndromic cleft lip and palate. Genet Mol Biol 2009 0.76