Siddharth Banka
St Mary's Hospital, Health Innovation Manchester
Manchester, ENG, United Kingdom
Manchester, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 174 publications
Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAs.
Journal: medRxiv : the preprint server for health sciences
Published: August 20, 2026
Human GPR174 deficiency drives polyclonal lymphoproliferative disease via defects in T cell function.
Journal: medRxiv : the preprint server for health sciences
Published: July 30, 2026
Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.
Journal: Nature genetics
Published: May 18, 2026
An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.
Journal: European journal of human genetics : EJHG
Published: February 21, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.
Journal: medRxiv : the preprint server for health sciences
Published: February 06, 2026
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders.
Journal: European journal of human genetics : EJHG
Published: February 02, 2026
Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.
Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.
Journal: Genome medicine
Published: January 20, 2026
Systematic mapping of rare genetic disease studies using UK primary care electronic health records.
Journal: European journal of human genetics : EJHG
Published: January 14, 2026
The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.
Journal: Genome medicine
Published: December 16, 2025
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Journal: American journal of human genetics
Published: October 19, 2025
De novo EHMT2 variants cause an autosomal dominant EHMT2-related Kleefstra syndrome via loss of G9a methyltransferase activity.
Journal: Nature communications
Published: September 23, 2025
Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1.
Distinct sub-clusters of developmental disorder-associated variants in the switch II region of RAC1.
Journal: European journal of human genetics : EJHG
Published: September 16, 2025
Last Updated: 09/26/2026