Hila Milo Rasouly

Exome-wide analysis of congenital kidney anomalies reveals new genes and shared architecture with developmental disorders

This study identifies new genes and shared genetic architecture between kidney anomalies and other developmental disorders using exome-wide analysis of clinical cohorts.

CAKUT variants in PRPF8, DYRK2, and CEP78: implications for splicing and ciliogenesis

The paper identifies variants in PRPF8 and related genes associated with CAKUT, showing their role in splicing and ciliogenesis through functional experiments.

Challenges associated with diagnostic exome sequencing in liver diseases

This study evaluates exome sequencing in liver diseases, finding a 5.7% diagnostic rate for monogenic disorders after filtering and manual review.

Incorporating Genetics Services into Adult Kidney Disease Care

This paper describes the establishment of a Kidney Genetics Clinic to improve access to genetic services for adults with kidney disease, reporting a 42.38% yield of clinically relevant genetic findings.

Molecular genetic analysis of Steroid Resistant Nephrotic Syndrome: Detection of a novel mutation

The paper identifies a novel mutation in FAT1 and pathogenic mutations in NPHS2 among SRNS patients, suggesting the need for WES after NPHS2 screening.