PubRank

M van Geel

Author PubWeight™ 31.97‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 A modular, positive selection bacterial artificial chromosome vector with multiple cloning sites. Genomics 1999 2.17
2 FRG2, an FSHD candidate gene, is transcriptionally upregulated in differentiating primary myoblast cultures of FSHD patients. J Med Genet 2004 1.50
3 A new type of erythrokeratoderma. Br J Dermatol 2005 1.43
4 Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis. Ann Neurol 2001 1.42
5 Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35. Hum Mol Genet 1996 1.42
6 Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry. Br J Dermatol 2012 1.39
7 A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. J Med Genet 2005 1.26
8 The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron. Am J Med Genet A 2009 1.21
9 A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. J Med Genet 2007 1.13
10 Source and component genes of a 6-200 Mb gene cluster in the house mouse. Mamm Genome 2001 1.11
11 Environmental regulation of alcohol metabolism in thermotolerant methylotrophic Bacillus strains. Arch Microbiol 1992 1.06
12 A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma. Am J Med Genet A 2005 1.05
13 Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43. Am J Med Genet A 2007 0.93
14 Molecular genetics of facioscapulohumeral muscular dystrophy. Neuromuscul Disord 1994 0.92
15 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome. Exp Dermatol 2006 0.88
16 Novel missense mutations in the FOXC2 gene alter transcriptional activity. Hum Mutat 2009 0.88
17 A novel missense mutation in GJB2, p.Tyr65His, causes severe Vohwinkel syndrome. Br J Dermatol 2011 0.86
18 Recent amplification of the human FRG1 gene during primate evolution. Gene 1999 0.83
19 A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East. Br J Dermatol 2008 0.83
20 A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis. Br J Dermatol 2010 0.82
21 Focal dermal hypoplasia in a male patient due to mosaicism for a novel PORCN single nucleotide deletion. J Eur Acad Dermatol Venereol 2011 0.81
22 Defects in DNA mismatch repair do not account for early-onset basal cell carcinoma. Br J Dermatol 2008 0.81
23 Novel EBP gene mutations in Conradi-Hünermann-Happle syndrome. Br J Dermatol 2007 0.80
24 Granulomatous rosacea and Crohn's disease in a patient homozygous for the Crohn-associated NOD2/CARD15 polymorphism R702W. Exp Dermatol 2008 0.80
25 Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35. Muscle Nerve Suppl 1995 0.79
26 Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer? Br J Dermatol 2009 0.79
27 Bile duct paucity is part of the neonatal ichthyosis-sclerosing cholangitis phenotype. Br J Dermatol 2010 0.78
28 Chanarin-Dorfman syndrome caused by a novel splice site mutation in ABHD5. Br J Dermatol 2008 0.78
29 Compound heterozygosity for ARS component B mutations in a Dutch patient with mal de Meleda. Br J Dermatol 2008 0.78
30 A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome. J Dermatol Sci 2011 0.77
31 Keratolysis exfoliativa (dyshidrosis lamellosa sicca): a distinct peeling entity. Br J Dermatol 2012 0.77
32 Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene. Br J Dermatol 2013 0.77
33 Lymphedema, cardiac septal defects, and characteristic facies: possible new case of Irons-Bianchi syndrome. Am J Med Genet A 2007 0.75
34 [Facial papules and pneumothoraces. Birt-Hogg-Dubé syndrome]. Hautarzt 2012 0.75
35 Cutaneous clues for diagnosing X-chromosomal disorders. Clin Genet 2013 0.75
36 Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications. Cell Mol Biol (Noisy-le-grand) 2009 0.75
37 Exclusion of ferrochelatase gene mutations in patients with seasonal palmoplantar keratoderma. Cell Mol Biol (Noisy-le-grand) 2009 0.75
38 Connexin 30.3 (GJB4) is not required for normal skin function in humans. Br J Dermatol 2002 0.75
39 Molecular genetics of hereditary hair and nail disease. Am J Med Genet C Semin Med Genet 2004 0.75
40 Search for the FSHD gene using cDNA selection in a region spanning 100 kb on chromosome 4q35. Muscle Nerve Suppl 1995 0.75
41 The molecular basis of hair growth. Eur J Dermatol 2001 0.75
42 [From gene to disease; cutaneous leiomyomatosis]. Ned Tijdschr Geneeskd 2007 0.75