Samuel D. Strohbehn

This study shows that genetic risk variants in endolysosomal network genes correlate with endolysosomal dysfunction in neural cells in Alzheimer's disease.

Pooling Fiber-seq gDNA with concatenated MAS-Seq cDNA in one PacBio run gives phased genome, methylome, chromatin, and transcriptome, exposing four gene disruptions from one X;13 translocation.

The paper uses full-length isoform sequencing to identify a splicing defect in MFN2 causing CMT2A in a patient with undiagnosed neuropathy.