Julie McGaughran

Publication Activity (10 Years)

Years Active: 2023-2024
Publications (10 Years): 6

Top Topics

Machine Learning

Intellectual Disability

Autism Spectrum Disorder

Top Venues

American journal of medical genetics. Part A

European journal of human genetics : EJHG

This page only lists publications with an associated author ORCID identifier.

Publications

Stephanie Best, Zoe Fehlberg, Christopher Richards, Michael C J Quinn, Sebastian Lunke, Amanda B Spurdle, Karin S Kassahn, Chirag Patel, Danya F Vears, Ilias Goranitis, Fiona Lynch, Alan Robertson, Emma Tudini, John Chrisodoulou, Hamish S Scott, Julie McGaughran, Zornitza Stark
Reanalysis of genomic data in rare disease: current practice and attitudes among Australian clinical and laboratory genetics services. European journal of human genetics : EJHG (2024)
Amanda Tabib, Christopher M Richmond, Julie McGaughran
Delineating the phenotype of RNU4ATAC-related spliceosomopathy. American journal of medical genetics. Part A 191 (4) (2023)
Amanda Tabib, Christopher M Richmond, Julie McGaughran
Delineating the phenotype of RNU4ATAC-related spliceosomopathy. American journal of medical genetics. Part A (2023)
Amanda Tabib, Christopher M Richmond, Julie McGaughran
Delineating the phenotype of RNU4ATAC-related spliceosomopathy. American journal of medical genetics. Part A 191 (4) (2023)
Amanda Tabib, Christopher M Richmond, Julie McGaughran
Delineating the phenotype of RNU4ATAC-related spliceosomopathy. American journal of medical genetics. Part A 191 (4) (2023)
Amanda Tabib, Christopher M Richmond, Julie McGaughran
Delineating the phenotype of RNU4ATAC-related spliceosomopathy. American journal of medical genetics. Part A 191 (4) (2023)