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Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
Genome Med. 2023 Dec 14;15(1):114. doi: 10.1186/s13073-023-01270-8.
Genome Med. 2023.
PMID: 38098057
Free PMC article.
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L, Maddirevula S, Shamseldin HE, Khouj E, Helaby R, Hamid H, Almulhim A, Hashem MO, Abdulwahab F, Abouyousef O, Alqahtani M, Altuwaijri N, Jaafar A, Alshidi T, Alzahrani F; Mendeliome Group; Alkuraya FS.
AlAbdi L, et al. Among authors: abouyousef o.
Nat Commun. 2023 Aug 29;14(1):5269. doi: 10.1038/s41467-023-40909-3.
Nat Commun. 2023.
PMID: 37644014
Free PMC article.
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