Sheela Nampoothiri

Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders

The paper systematically analyzes homozygous autosomal copy number losses in exomes to improve diagnostic yield and identify ultra-rare recessive disorders.

PYCR1 Levels Track with Premature and Chronological Skin Aging

The paper investigates PYCR1 levels in skin aging, finding they decrease with both induced and chronological aging in human skin.

Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain

The paper shows that a mutation in CASK's CaMK domain disrupts its regulation of Liprin-α phase separation, leading to neurodevelopmental disorder with microcephaly and pontocerebellar hypoplasia.

Narcolepsy risk loci are enriched in immune cells and suggest autoimmune modulation of the T cell receptor repertoire

This study identifies genetic risk loci for narcolepsy, showing enrichment in immune cells and suggesting autoimmune modulation via T cell receptor chains and influenza-A infection.