Associated Papers
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
AlAbdi L et al.
Genome Medicine, 2023
38098057 (PubMed )
Supplement: 13073_2023_1270_MOESM1_ESM.pdf
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Select a paper to view details