Siddharth Banka

Manchester Academic Health Science Centre — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

54h-index9.6kcitations251works6.32yr avg
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Research Topics

Genomics and Rare Diseases(97), Genetics and Neurodevelopmental Disorders(67), Genomic variations and chromosomal abnormalities(53), Epigenetics and DNA Methylation(30), RNA modifications and cancer(15)

Publications236 total

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
The American Journal of Human Genetics·2025· 1 citedOpen Access
Genetic modifiers and ascertainment drive variable expressivity of complex disorders
Cell·2025· 6 citedOpen Access
Evaluating DNA methylation episignatures as a first-tier diagnostic test in individuals with suspected genetic disorders
European Journal of Human Genetics·2025· 1 citedOpen Access
Epigenome and transcriptome changes in KMT2D-related Kabuki syndrome Type 1 iPSCs, neuronal progenitors and cortical neurons
PLoS Genetics·2025· 2 citedOpen Access
PIGC-related encephalopathy: Lessons learned from 18 new probands
European Journal of Human Genetics·2025Open Access
Biallelic variants in <i>RNU2-2</i> cause a remarkably frequent developmental epileptic encephalopathy
2025· 3 citedOpen Access
Biallelic variants in the non-coding RNA gene <i>RNU4-2</i> cause a recessive neurodevelopmental syndrome with distinct white matter changes
2025· 3 citedOpen Access
Growth Hormone Treatment in Patients With <scp>KBG</scp> Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review
American Journal of Medical Genetics Part A·2025· 4 citedOpen Access
Publisher Correction: Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes
Nature Genetics·2025Open Access
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder
Brain·2025· 2 citedOpen Access
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
Genetics in Medicine·2025· 3 citedOpen Access
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes
Nature Genetics·2025· 14 citedOpen Access
Adrenal insufficiency associated with mutations in haem biosynthesis genes
Endocrine Abstracts·2025· 1 cited
Non-implant associated primary breast anaplastic large cell lymphoma in a postpartum female
Indian Journal of Case Reports·2025Open Access
Systematic identification of disease-causing promoter and untranslated region variants in 8040 undiagnosed individuals with rare disease
Genome Medicine·2025· 4 citedOpen Access
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes
European Journal of Human Genetics·2025Open Access
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
2025Open Access
Epigenome and transcriptome changes in <i>KMT2D</i> -related Kabuki syndrome Type 1 iPSCs, neuronal progenitors and cortical neurons
2025Open Access
Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans
Genetics in Medicine Open·2025Open Access
Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype
The American Journal of Human Genetics·2024· 5 citedOpen Access
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Frequent Co-authors

Jill Clayton‐Smith(11), William G. Newman(10), Bronwyn Kerr(10), Natalie Canham(6), Michael Parker(6), Ruth Armstrong(6), Kate Chandler(6), Dian Donnai(6), Antonio Vitobello(6), Trevor Cole(5), Víctor Faúndes(5), Julia Rankin(5), I. Karen Temple(5), Moira Blyth(5), Yanick J. Crow(5), Philippe M. Campeau(5), Raymond J. Louie(5), Munaza Ahmed(4), Maria Bitner‐Glindzicz(4), Graeme C. Black(4)