Associated Papers
Parental mosaic cutaneous-gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis-deafness syndrome.
Cohen-Barak E et al.
The Journal of Dermatology, 2022
A Somatic p.Phe29del Mutation of Connexin 26 (GJB2) Manifesting as Acantholytic Dyskeratotic Epidermal Nevus.
Lee YI et al.
Jama Dermatology, 2019
Clinical detection of deletion structural variants in whole-genome sequences.
Noll AC et al.
Npj Genomic Medicine, 2016
29263817 (PubMed )
Supplement: npjgenmed201626-s7.xlsx › Sheet1
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Willig LK et al.
The Lancet. Respiratory Medicine, 2015
Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
Saunders CJ et al.
Science Translational Medicine, 2012
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