Laura Wedd
Melbourne, VIC, Australia
Last Updated: 09/26/2026
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Found 11 publications
Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.
Journal: medRxiv : the preprint server for health sciences
Published: July 15, 2025
Automated reanalysis of genomic data for rare disease diagnostics at scale.
Journal: Nature medicine
Published: May 21, 2025
PKD1 5'UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development.
Journal: European journal of human genetics : EJHG
Published: March 30, 2025
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
Journal: medRxiv : the preprint server for health sciences
Published: April 22, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Journal: Nature
Published: April 07, 2024
Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts.
Journal: NPJ genomic medicine
Published: December 19, 2023
Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study.
Journal: Clinical journal of the American Society of Nephrology : CJASN
Published: October 30, 2023
What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability.
Journal: European journal of human genetics : EJHG
Published: June 13, 2023
Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD.
Journal: NPJ genomic medicine
Published: December 20, 2022
Exploring the impact of the reclassification of a hereditary cancer syndrome gene variant: emerging themes from a qualitative study.
Journal: Journal of community genetics
Published: November 18, 2022
Showing 1-11 of 11
Last Updated: 09/26/2026