Associated Papers
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM7_ESM.xlsx › Supplementary_Data_4
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Biological function of laminin-5 and pathogenic impact of its deficiency.
Schneider H et al.
European Journal of Cell Biology, 2007
Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations.
Mizrachi-Koren M et al.
Journal of the American Academy of Dermatology, 2006
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.
Varki R et al.
Journal of Medical Genetics, 2006
Novel and recurrent mutations in the laminin-5 genes causing lethal junctional epidermolysis bullosa: molecular basis and clinical course of Herlitz disease.
Mühle C et al.
Human Genetics, 2005
Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.
Nakano A et al.
Journal of the American Academy of Dermatology, 2002
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