PubRank

Fanny Morice-Picard

Author PubWeight™ 21.98‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol 2010 2.87
2 Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 2011 2.59
3 ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet 2008 1.78
4 Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet 2012 1.70
5 Increasing the complexity: new genes and new types of albinism. Pigment Cell Melanoma Res 2013 1.27
6 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling. Hum Mol Genet 2013 1.22
7 Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco. Am J Med Genet A 2008 1.16
8 Nicolaides-Baraitser syndrome: Delineation of the phenotype. Am J Med Genet A 2009 1.11
9 STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. Epilepsia 2011 1.09
10 Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio-type poikiloderma with neutropenia. Am J Med Genet A 2010 0.96
11 Segmental vitiligo as the possible expression of cutaneous somatic mosaicism: implications for common non-segmental vitiligo. Pigment Cell Melanoma Res 2008 0.96
12 Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. Pigment Cell Melanoma Res 2008 0.95
13 Brachydactyly type A1 with short humerus and associated skeletal features. Am J Med Genet A 2010 0.80
14 Cole Disease Results from Mutations in ENPP1. Am J Hum Genet 2013 0.80
15 High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients. Hum Genet 2010 0.80
16 Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. Acta Derm Venereol 2016 0.79
17 Development and validation of the K-VSCOR for scoring Koebner's phenomenon in vitiligo/non-segmental vitiligo. Pigment Cell Melanoma Res 2013 0.78
18 Effects of the Staphylococcus aureus and Staphylococcus epidermidis Secretomes Isolated from the Skin Microbiota of Atopic Children on CD4+ T Cell Activation. PLoS One 2015 0.75
19 In this issue: Comments on the proposed term pleomorphic ichthyosis. Acta Derm Venereol 2010 0.75
20 An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman. Eur J Med Genet 2011 0.75
21 Cutaneous epidermal cysts as a presentation of gorlin syndrome. Arch Dermatol 2009 0.75
22 Novel KRT83 and KRT86 mutations associated with monilethrix. Exp Dermatol 2015 0.75
23 Identification of a complex 17q rearrangement in a metanephric stromal tumor. Cancer Genet 2011 0.75