Michael Sean Wiesener

The paper identifies deep intronic mutational hotspots using in silico mutagenesis and demonstrates that a single antisense oligonucleotide can correct multiple variants causing X-linked Alport syndrome.

The paper identifies pathogenic variants in tubulointerstitial kidney disease genes in 12.5% of a CKD cohort using targeted sequencing and clinical criteria.

The paper identifies an intermediate-effect variant in UMOD associated with chronic kidney disease risk and shows it has reduced disease severity compared to canonical ADTKD mutations.

The paper describes prenatal and postnatal phenotypes of seven individuals with HNF1B aberrations and compares their clinical and genetic data to previous studies, highlighting the need for accurate variant classification.

The paper identifies homozygous mutations in PIK3C2A causing a new Mendelian disorder with short stature, skeletal abnormalities, cataracts, and ciliary dysfunction.