Simon P. Sadedin
50 Flemington Rd
Parkville, VIC 3052, Australia
Parkville, VIC 3052, Australia
Last Updated: 09/26/2026
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Found 39 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
Benchmarking pharmacogenomics genotyping tools: Performance analysis on short-read sequencing samples and depth-dependent evaluation.
Journal: Clinical and translational science
Published: May 16, 2024
Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol.
Journal: BMJ open
Published: April 03, 2024
The cost of proband and trio exome and genome analysis in rare disease: A micro-costing study.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 12, 2023
Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?
Journal: European journal of human genetics : EJHG
Published: January 05, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Journal: Nature medicine
Published: December 15, 2022
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Journal: American journal of human genetics
Published: June 15, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Journal: American journal of human genetics
Published: October 28, 2021
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
Journal: Human molecular genetics
Published: June 17, 2021
Last Updated: 09/26/2026