Siddharth Banka

47PUBLICATIONS
325CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Disease surveillanceNeurogeneticsDevelopmental genetics (incl. sex determination)
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Publications (47)

|Jun 26, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.

|May 26, 2026
Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expression.

|May 20, 2026
Systematic mapping of rare genetic disease studies using UK primary care electronic health records.

|May 18, 2026
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

|May 12, 2026
Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1.

|Apr 08, 2026
Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Rocio Rius, Alexander J M Blakes, Yuyang Chen

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Frequent Collaborators

8 joint publications

Alexander J M Blakes

8 joint publications

Jamie M Ellingford

6 joint publications

Raymond T O'Keefe

5 joint publications

Adam Jackson