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BMJ Open|March 11, 2026
NewbornsInSA multi-omic newborn screening: protocol for a prospective cohort studyLucy Anastasi, Ayesha Chowdhury, Alex Ashenden, et al.The Australian & New Zealand Journal of Obstetrics & Gynaecology|April 5, 2024
Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal servicesAlice Rogers, Lucas De Jong, Wendy Waters, et al.Orphanet Journal of Rare Diseases|November 19, 2015
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthEmily J Todd, Kyle S Yau, Royston Ong, et al.Nature Medicine|January 19, 2023
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal deathAlicia B Byrne, Peer Arts, Thuong T Ha, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|March 10, 2023
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related DisordersDominyka Batkovskyte, Fiona McKenzie, Fulya Taylan, et al.Human Genomics|November 13, 2025
Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnosesMahalia S B Frank, Melissa K Bennett, Thuong T Ha, et al.Developmental Cell|October 13, 2022
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosisXuyu Qian, Ellen M DeGennaro, Maya Talukdar, et al.Journal of Medical Genetics|June 29, 2021
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disabilityNatalie B Tan, Alistair T Pagnamenta, Matteo P Ferla, et al.Nature Medicine|June 8, 2023
Integrated multi-omics for rapid rare disease diagnosis on a national scaleSebastian Lunke, Sophie E Bouffler, Chirag V Patel, et al.American Journal of Human Genetics|March 3, 2023
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcareZornitza Stark, Tiffany Boughtwood, Matilda Haas, et al.Pageof 4