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Harshini Thiyagarajah

Observed names: Thiyagarajah, Harshini, Thiyagarajah, Harshini Rachael
ORCID: 0000-0003-1410-7741
Observed ORCID: 0000-0003-1410-7741
OpenAlex ID: A5050586377
A cis-regulatory-directed pipeline for the identification of genes involved in cardiac development and disease
2021 · Hieu T. Nim, Louis Dang, et al. · Genome biology · 11
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Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
2025 · Elsa Leitão, Amandine Santini, et al. · medRxiv · 9
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Pathogenic Variants in RNU2‐2 , a Non‐coding Spliceosomal RNA , Cause a Distinctive Developmental and Epileptic Encephalopathy
2025 · Annie T.G. Chiu, Mark F. Bennett, et al. · Annals of Neurology · 8
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
2026 · Elsa Leitão, Amandine Santini, et al. · Nature Genetics · 7
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Genome sequencing boosts diagnostic yield for the developmental and epileptic encephalopathies
2026 · Jacob E. Munro, Harshini Thiyagarajah, et al. · medRxiv · 1
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
2025 · Leitão, Elsa, Santini, Amandine, et al. · RWTH Publications (RWTH Aachen)
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies
2025 · Leitão, Elsa, Santini, Amandine, et al. · RWTH Publications (RWTH Aachen)
Genome Sequencing in a Large Cohort of Patients with Developmental and Epileptic Encephalopathies of Unknown Aetiology.
2025 · Thiyagarajah, Harshini Rachael · Minerva Access (University of Melbourne)
Additional file 2 of A cis-regulatory-directed pipeline for the identification of genes involved in cardiac development and disease
2021 · Nim, Hieu T., Dang, Louis, et al. · Figshare
Works count: 13
Citation count: 37
H-index: 4
I10-index: 1
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