Associated Papers
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT et al.
Genome Medicine, 2023
37946251 (PubMed )
Supplement: 13073_2023_1240_MOESM2_ESM.docx
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy.
Otto EA et al.
Journal of Medical Genetics, 2011
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.
Olbrich H et al.
Nature Genetics, 2003
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