Associated Papers
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1
Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis.
Deelen P et al.
Nature Communications, 2019
Generalized Ichthyotic Peeling Skin Syndrome due to FLG2 Mutations.
Bolling MC et al.
The Journal of Investigative Dermatology, 2018
Peeling skin syndrome associated with novel variant in FLG2 gene.
Alfares A et al.
American Journal of Medical Genetics. Part A, 2017
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