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Emma K. Wiener

Observed names: Emma Wiener, Wiener, Emma, Wiener, Emma K.
ORCID: 0000-0001-9184-0264
Observed ORCID: 0000-0001-9184-0264
OpenAlex ID: A5084519067
Retrospective file review shows limited genetic services fail most patients – an argument for the implementation of exome sequencing as a first-tier test in resource-constrained settings
2023 · Emma K. Wiener, James Buchanan, et al. · Orphanet Journal of Rare Diseases · 10
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PTPN1 -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance
2026 · Daniel G. Calame, Emma K. Wiener, et al. · medRxiv · 1
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An assessment of the genomic structural variation landscape in Sub-Saharan African populations
2024 · Zané Lombard, Emma Wiener, et al. · Research Square · 1
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Biallelic IRAK4 Variants Associated with Severe Neurological Autoinflammation: An Expansion of the Clinical Phenotype
2026 · Emma K. Wiener, Rocio Rius, et al. · medRxiv
Rigorous genetic diagnosis review in natural history studies
2026 · Amy Pizzino, Kaley Arnold, et al. · Orphanet Journal of Rare Diseases
P274: Bi-allelic IRAK4 variants are associated with severe neurological autoinflammation: An Expansion of the clinical phenotype
2026 · Emma Wiener, Rocio Rius, et al. · Genetics in Medicine Open
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P156: PTPN1-related autoinflammation is a common cause of Aicardi Goutières syndrome with reduced penetrance
2026 · Emma Wiener, Daniel Calame, et al. · Genetics in Medicine Open
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Functional ability profiles in beta-propeller protein-associated neurodegeneration (BPAN)
2025 · Francesco Gavazzi, Samuel R. Pierce, et al. · Molecular Genetics and Metabolism
Additional file 2 of Retrospective file review shows limited genetic services fail most patients – an argument for the implementation of exome sequencing as a first-tier test in resource-constrained settings
2023 · Wiener, Emma K., Buchanan, James, et al. · Figshare
Works count: 12
Citation count: 13
H-index: 1
I10-index: 1
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