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Australian Genomics Health Alliance

Alternate name: Australian Genomics
ROR: 04y1rbh73
OpenAlex ID: I4405269685
Differentiation of Embryonic Stem Cells to Insulin-Secreting Structures Similar to Pancreatic Islets
2001 · Nadya Lumelsky, Olivier Blondel, et al. · Science · 1,452
Integrating Genomics into Healthcare: A Global Responsibility
2019 · Zornitza Stark, Lena Dolman, et al. · The American Journal of Human Genetics · 438
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GA4GH: International policies and standards for data sharing across genomic research and healthcare
2021 · Heidi L. Rehm, Angela J.H. Page, et al. · Cell Genomics · 349
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Normalization strategies for metabonomic analysis of urine samples
2009 · Bethanne M. Warrack, Serhiy Hnatyshyn, et al. · Journal of Chromatography B · 345
Urea Cycle Dysregulation Generates Clinically Relevant Genomic and Biochemical Signatures
2018 · Joo Sang Lee, Lital Adler, et al. · Cell · 304
Ciliopathies and the Kidney: A Review
2020 · Dominique J. McConnachie, Jennifer L. Stow, et al. · American Journal of Kidney Diseases · 272
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Genomic newborn screening for rare diseases
2023 · Zornitza Stark, Richard H. Scott · Nature Reviews Genetics · 246
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
2020 · Australian Genomics Health Alliance Acute Care Flagship, Sebastian Lunke, et al. · JAMA · 242
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Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
2022 · Anna Köttgen, Emilie Cornec-Le Gall, et al. · Kidney International · 219
The application of long-read sequencing in clinical settings
2023 · Josephine B. Oehler, Helen Wright, et al. · Human Genomics · 205
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The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources
2022 · Marina T. DiStefano, Scott Goehringer, et al. · Genetics in Medicine · 179
Integrated multi-omics for rapid rare disease diagnosis on a national scale
2023 · Sebastian Lunke, Sophie E. Bouffler, et al. · Nature Medicine · 167
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The Genetic Architecture of Climatic Adaptation of Tropical Cattle
2014 · Laercio R. Porto-Neto, Antonio Reverter, et al. · PLoS ONE · 163
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The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review
2020 · Nick Dragojlovic, Kennedy Borle, et al. · Genetics in Medicine · 140
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Clinical impact of genomic testing in patients with suspected monogenic kidney disease
2020 · Kushani Jayasinghe, Zornitza Stark, et al. · Genetics in Medicine · 131
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Australian Genomics: A Federated Model for Integrating Genomics into Healthcare
2019 · Zornitza Stark, Tiffany Boughtwood, et al. · The American Journal of Human Genetics · 128
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Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)
2020 · Edwin P. Kirk, Royston Ong, et al. · European Journal of Human Genetics · 122
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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
2021 · Adam M. Bournazos, Lisa G. Riley, et al. · Genetics in Medicine · 101
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders
2017 · Andrew J. Mallett, Hugh J. McCarthy, et al. · Kidney International · 98
Preparing Medical Specialists for Genomic Medicine: Continuing Education Should Include Opportunities for Experiential Learning
2020 · Belinda J. McClaren, Erin Crellin, et al. · Frontiers in Genetics · 90
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Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare
2023 · Zornitza Stark, Tiffany Boughtwood, et al. · The American Journal of Human Genetics · 85
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution
2021 · Zornitza Stark, Rebecca E. Foulger, et al. · The American Journal of Human Genetics · 84
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Rapid Challenges: Ethics and Genomic Neonatal Intensive Care
2019 · Christopher Gyngell, Ainsley J. Newson, et al. · PEDIATRICS · 82
Preparing Medical Specialists to Practice Genomic Medicine: Education an Essential Part of a Broader Strategy
2019 · Erin Crellin, Belinda McClaren, et al. · Frontiers in Genetics · 81
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‘CTRL’: an online, Dynamic Consent and participant engagement platform working towards solving the complexities of consent in genomic research
2021 · Matilda A. Haas, Harriet Teare, et al. · European Journal of Human Genetics · 79
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Works count: 424
Citation count: 41,000
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