Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants
Autism spectrum disorder (ASD) is a collection of neurodevelopmental disorders
characterized by deficits in social communication and restricted, repetitive patterns of …
characterized by deficits in social communication and restricted, repetitive patterns of …
Sex differences in the pleiotropy of hearing difficulty with imaging-derived phenotypes: a brain-wide investigation
Hearing difficulty (HD) is one of the major health burdens in older adults. While aging-
related changes in the peripheral auditory system play an important role, genetic variation …
related changes in the peripheral auditory system play an important role, genetic variation …
Mechanical role of the submembrane spectrin scaffold in red blood cells and neurons
C Leterrier, PA Pullarkat - Journal of cell science, 2022 - journals.biologists.com
Spectrins are large, evolutionarily well-conserved proteins that form highly organized
scaffolds on the inner surface of eukaryotic cells. Their organization in different cell types or …
scaffolds on the inner surface of eukaryotic cells. Their organization in different cell types or …
Lethal phenotypes in Mendelian disorders
Purpose Existing resources that characterize the essentiality status of genes are based on
either proliferation assessment in human cell lines, viability evaluation in mouse knockouts …
either proliferation assessment in human cell lines, viability evaluation in mouse knockouts …