Siddharth Banka

Employment

• The University of Manchester

Education

• The University of Manchester

Projects & Funding

Projects & funding information is unavailable.

Publications (238)

• Systematic mapping of rare genetic disease studies using UK primary care electronic health records
  European Journal of Human Genetics 2026 DOI: 10.1038/s41431-026-02114-w
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• Paired DNA and RNA sequencing uncovers common and rare genetic variants regulating gene expression in the human retina
  Nature Communications 2026 DOI: 10.1038/s41467-026-72979-4
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• Author Correction
  Nature Genetics 2026 DOI: 10.1038/s41588-026-02636-5
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• Biallelic GLTP mutations cause nonsyndromic epidermal differentiation disorder via disrupted epidermal glucosylceramide transport
  Journal of Clinical Investigation 2026 DOI: 10.1172/JCI198835
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• Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
  Nature Genetics 2026 DOI: 10.1038/s41588-026-02554-6
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• Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy
  Nature Genetics 2026 DOI: 10.1038/s41588-026-02551-9
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• Regional nonsense constraint offers biological and clinical insights into genetic disease
  Nature Communications 2026 DOI: 10.1038/s41467-026-69983-z
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• Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies
  American Journal of Human Genetics 2026 DOI: 10.1016/j.ajhg.2025.12.007
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• Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders
  medRxiv 2026 DOI: 10.64898/2026.01.27.26344632
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• Genetic modifiers and ascertainment drive variable expressivity of complex disorders
  Cell 2025 DOI: 10.1016/j.cell.2025.09.012
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