Horimoto, Boyken, Blue, et al. (2023) Admixture mapping implicates 13q33.3 as ancestry-of-origin locus for Alzheimer disease in Hispanic and Latino populations. HGG Advances, 4, 100207. PMCID: PMC10276158. Admixed populations descended from multiple ancestral populations are under-represented in genetic studies of disease while the studies that are available are limited by small sample sizes and analytical…
Stergachis*, Blue*, et al. (2023) Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A. Neurology Genetics, 9, e200090. PMCID: PMC10409571. *co-first authors Although 90% of patients with Charcot-Marie-Tooth 2A (CMT2A) [MIM: 609260] have dominant-negative pathogenic variants in MFN2, recessive inheritance has been reported for patients with biallelic loss-of-function variants. We identified a patient…
Blue et al. (2023) Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome. HGG Advances, 4, 100232. PMCID: PMC10474499. We show that the genetic basis of isolated hypoplastic left heart syndrome (iHLHS) is not explained by single, large effect alleles in genes previously reported to underlie iHLHS or congenital heart disease. Instead,…