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Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009.
Am J Hum Genet. 2023.
PMID: 37541186
Free PMC article.
Review.
Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders.
Bozkurt-Yozgatli T, Pehlivan D, Gibbs RA, Sezerman U, Posey JE, Lupski JR, Coban-Akdemir Z.
Bozkurt-Yozgatli T, et al.
BMC Med Genomics. 2024 Apr 16;17(1):85. doi: 10.1186/s12920-024-01852-4.
BMC Med Genomics. 2024.
PMID: 38622594
Free PMC article.
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