Peter C. van den Akker

Loss-of-function variants in the filaggrin gene are a significant risk factor for peanut allergy

Sara Brown, Yuka Asai, Heather J. Cordell et al. · Journal of Allergy and Clinical Immunology · 2011 · 466 citations · Full text

Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa

Cristina Has, L. Liu, Maria C. Bolling et al. · British Journal of Dermatology · 2019 · 147 citations · Full text

Improving the diagnostic yield of exome- sequencing by predicting gene–phenotype associations using large-scale gene expression analysis

Patrick Deelen, Sipko van Dam, Johanna C. Herkert et al. · Nature Communications · 2019 · 147 citations · Full text

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

Katrin Friedrich, Lin Lee, Dru F. Leistritz et al. · Human Genetics · 2010 · 101 citations · Full text

Unusual Intronic Mutations, Somatic Variant, Mendelian Disorder +10

The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations

Peter C. van den Akker, Marcel F. Jonkman, Trebor Rengaw et al. · Human Mutation · 2011 · 88 citations · Full text