Detlef Böckenhauer

This paper shows that proximal tubules are sensitive to metabolic acidosis, leading to trafficking defects and lysosomal damage, and that bicarbonate therapy can prevent these issues.

The paper identifies 88 novel rare disease-gene associations using a burden analysis framework on whole genome sequencing data from the 100,000 Genomes Project, with potential clinical impact for undiagnosed cases.

This study identifies a novel genetic association between AHI1 variants and steroid-sensitive nephrotic syndrome in both Sri Lankan and European populations.

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.