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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2020
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patientsAlison Yeung, Natalie B Tan, Tiong Y Tan, et al.BMJ Open|April 3, 2024
Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocolSebastian Lunke, Sophie E Bouffler, Lilian Downie, et al.JAMA Pediatrics|August 1, 2017
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic ConditionsTiong Yang Tan, Oliver James Dillon, Zornitza Stark, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 17, 2020
Clinical impact of genomic testing in patients with suspected monogenic kidney diseaseKushani Jayasinghe, Zornitza Stark, Peter G Kerr, et al.Nature|November 15, 2013
Commensal microbe-derived butyrate induces the differentiation of colonic regulatory T cellsYukihiro Furusawa, Yuuki Obata, Shinji Fukuda, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2016
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disordersZornitza Stark, Tiong Y Tan, Belinda Chong, et al.Nature Medicine|October 9, 2025
Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening studySebastian Lunke, Lilian Downie, Jade Caruana, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)Amy Nisselle, Monika Janinski, Melissa Martyn, et al.Journal of the Neurological Sciences|December 14, 2020
The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspectiveDhamidhu Eratne, Amy Schneider, Ella Lynch, et al.Pageof 14