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Author

Jonathan Rodgers

Observed name: Rodgers, J
ORCID: 0000-0003-0760-8943
Observed ORCID: 0000-0003-0760-8943
OpenAlex ID: A5055020907
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 · 238
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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 · 96
Clinical delineation, sex differences, and genotype–phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
2021 · Víctor Faundes, Stephanie Goh, et al. · Genetics in Medicine · 69
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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
2023 · Alicia B. Byrne, Peer Arts, et al. · Nature Medicine · 66
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A Multi-Disciplinary Team Approach to Genomic Testing for Drug-Resistant Epilepsy Patients—The GENIE Study
2022 · Lata Vadlamudi, Carmen Maree Bennett, et al. · Journal of Clinical Medicine · 9
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Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder
2022 · Aram Niaz, Jia Truong, et al. · Blood Advances · 8
Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant
2022 · Esra Yıldız Bölükbaşı, Justyna A. Karolak, et al. · European Journal of Human Genetics · 7
A novel ARX loss of function variant in female monozygotic twins is associated with chorea
2021 · Jonathan Rodgers, Sophie Calvert, et al. · European Journal of Medical Genetics · 7
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
2020 · Sebastian Lunke, Stefanie Eggers, et al. · Obstetrical & Gynecological Survey · 7
Delineating the CCDC22‐related Ritscher–Schinzel syndrome phenotype in the original family
2022 · Jonathan Rodgers, Christopher M. Richmond, et al. · American Journal of Medical Genetics Part A · 6
Telomere biology disorder presenting acutely with pulmonary fibrosis and hepatopulmonary syndrome in a young adult male
2023 · Samantha Chin‐Yun Kung, Olivia Dixon, et al. · Respirology Case Reports · 5
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Diagnosing Late-Onset Tay-Sachs Through Next Generation Sequencing and Functional Enzyme Testing
2024 · Ajay R. Tupil, Warwick Rivlin, et al. · Neurology Genetics · 3
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ABCA3 Surfactant‐Related Gene Variant Associated Interstitial Lung Disease in Adults: A Case Series and Review of the Literature
2025 · James Nolan, Jonathan Rodgers, et al. · Respirology Case Reports · 1
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Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
2023 · Alicia B. Byrne, Peer Arts, et al. · Nature Medicine · 1
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16O Bi-allelic variants in DMXL1 cause a novel autophagic vacuolar myopathy
2026 · Chiara Folland, Ana Töpf, et al. · Neuromuscular Disorders
Building genetic healthcare together: an Australian co-production three-phase mixed-methods research protocol with people with intellectual disability
2026 · Iva Strnadová, Michelle Tso, et al. · BMJ Open
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Autosomal Recessive Spastic Ataxia of Charlevoix‐Saguenay in Two Half‐Siblings
2025 · Dennis Yeow, Matthew Katz, et al. · Annals of Clinical and Translational Neurology
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Genotype-Phenotype Correlation in RBM10-Associated Syndromes – How Variant Function Shapes a Broad Phenotypic Landscape
2025 · Jeanne M. V. Bang, Christina R. Fagerberg, et al. · medRxiv
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Works count: 19
Citation count: 523
H-index: 7
I10-index: 4
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