PubRank

Amalia Martinez-Mir

Author PubWeight™ 18.24‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell 2003 2.06
2 Clinical and pathologic correlations in genetically distinct forms of atrichia. Arch Dermatol 2003 1.57
3 Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am J Hum Genet 2005 1.07
4 De novo mutations in monilethrix. Exp Dermatol 2003 0.96
5 Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation. Genomics 2008 0.92
6 Evidence for extensive locus heterogeneity in Naxos disease. J Invest Dermatol 2002 0.91
7 Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata. J Am Acad Dermatol 2005 0.91
8 Compound heterozygous mutations in the hairless gene in atrichia with papular lesions. J Invest Dermatol 2003 0.88
9 A nonsense mutation in the desmoglein 1 gene underlies striate keratoderma. Exp Dermatol 2003 0.87
10 Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: A lesson for differential diagnosis of alopecia universalis. J Am Acad Dermatol 2002 0.86
11 A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. J Invest Dermatol 2004 0.85
12 Identification of a novel splice site mutation in the human hairless gene underlying atrichia with papular lesions. Eur J Dermatol 2005 0.84
13 Novel compound heterozygous nonsense mutations in the hairless gene causing atrichia with papular lesions. J Dermatol Sci 2005 0.83
14 Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats. J Investig Dermatol Symp Proc 2005 0.81
15 Evidence for pseudodominant inheritance of atrichia with papular lesions. J Invest Dermatol 2002 0.80
16 Mutations affecting synaptic levels of neurexin-1β in autism and mental retardation. Neurobiol Dis 2012 0.80
17 EB simplex superficialis resulting from a mutation in the type VII collagen gene. J Invest Dermatol 2002 0.80
18 A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect. J Invest Dermatol 2003 0.79
19 Rare variants analysis of neurexin-1β in autism reveals a novel start codon mutation affecting protein levels at synapses. Psychiatr Genet 2013 0.76
20 Atrichia with papular lesions resulting from novel compound heterozygous mutations in the human hairless gene. Pediatr Dermatol 2007 0.75