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Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease.
Jiman OA, Taylor RL, Lenassi E, Smith JC, Douzgou S, Ellingford JM, Barton S, Hardcastle C, Fletcher T, Campbell C, Ashworth J, Biswas S, Ramsden SC; UK Inherited Retinal Disease Consortium; Manson FD, Black GC. Jiman OA, et al. Eur J Hum Genet. 2020 May;28(5):576-586. doi: 10.1038/s41431-019-0548-5. Epub 2019 Dec 13. Eur J Hum Genet. 2020. PMID: 31836858 Free PMC article.
Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.
Bdier AY, Al-Ghamdi S, Verma PK, Dagriri K, Alshehri B, Jiman OA, Ahmed SE, Wilde AAM, Bhuiyan ZA, Al-Aama JY. Bdier AY, et al. Among authors: jiman oa. Mol Genet Genomic Med. 2017 Jun 21;5(5):592-601. doi: 10.1002/mgg3.305. eCollection 2017 Sep. Mol Genet Genomic Med. 2017. PMID: 28944242 Free PMC article.