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Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
Nat Commun. 2023 Aug 29;14(1):5269. doi: 10.1038/s41467-023-40909-3.
Nat Commun. 2023.
PMID: 37644014
Free PMC article.
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
AlAbdi L, Shamseldin HE, Khouj E, Helaby R, Aljamal B, Alqahtani M, Almulhim A, Hamid H, Hashem MO, Abdulwahab F, Abouyousef O, Jaafar A, Alshidi T, Al-Owain M, Alhashem A, Al Tala S, Khan AO, Mardawi E, Alkuraya H, Faqeih E, Afqi M, Alkhalifi S, Rahbeeni Z, Hagos ST, Al-Ahmadi W, Nadeef S, Maddirevula S, Khabar KSA, Putra A, Angelov A, Park C, Reyes-Ramos AM, Umer H, Ullah I, Driguez P, Fukasawa Y, Cheung MS, Gallouzi IE, Alkuraya FS.
AlAbdi L, et al. Among authors: abouyousef o.
Genome Med. 2023 Dec 14;15(1):114. doi: 10.1186/s13073-023-01270-8.
Genome Med. 2023.
PMID: 38098057
Free PMC article.
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