Multilocus pathogenic variants contribute to intrafamilial clinical heterogeneity: a retrospective study of sibling pairs with neurodevelopmental disorders - Bozkurt\\-Yozgatli, Tugce; Pehlivan, Davut; Gibbs, Richard A.; Sezerman, Ugur; Posey, Jennifer E.; Lupski, James R.; Coban\\-Akdemir, Zeynep (BMC, 2024)
Keywords: Exome sequencing; Runs\\-of\\-homozygosity; Multilocus pathogenic variation; Neurodevelopmental disorders