Diana Baralle

Southampton General Hospital — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

49h-index10.1kcitations206works9.32yr avg
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Research Topics

Genomics and Rare Diseases(59), RNA Research and Splicing(50), RNA modifications and cancer(43), RNA and protein synthesis mechanisms(36), Genomic variations and chromosomal abnormalities(36)

Publications201 total

Immune transcriptomic differences in paediatric patients with SARS-CoV-2 compared to other lower respiratory tract infections
2025Open Access
Is CFAP53 a cause of primary ciliary dyskinesia (PCD)?
2025
Rescue of ciliogenesis and hyperglutamylation mutant phenotype in AGBL5−/− cell model of retinitis pigmentosa
BMC Molecular and Cell Biology·2025Open Access
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer
Genetics in Medicine·2025Open Access
Utility of long read Nanopore sequencing as a tool for rapid insight into the host response in patients infected with SARS-CoV-2 or influenza A virus at point-of-care
2025Open Access
Whole RNA-Seq Analysis Reveals Longitudinal Proteostasis Network Responses to Photoreceptor Outer Segment Trafficking and Degradation in RPE Cells
Cells·2025· 1 citedOpen Access
KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome
Human Molecular Genetics·2025· 1 citedOpen Access
Paired DNA and RNA sequencing uncovers common and rare genetic variants regulating gene expression in the human retina
2025Open Access
Disrupted visual attention relates to cognitive development in infants with Neurofibromatosis Type 1
Journal of Neurodevelopmental Disorders·2025· 3 citedOpen Access
MAJIQ-CLIN: A novel tool for the identification of Mendelian disease-causing variants from RNA-Seq data
2025Open Access
Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysis
Human Molecular Genetics·2024· 1 citedOpen Access
Monoallelic <i>de novo</i> variants in <i>DDX17</i> cause a neurodevelopmental disorder
Brain·2024· 3 citedOpen Access
Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach
Genome Medicine·2024· 17 citedOpen Access
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants
Genetics in Medicine·2024· 11 citedOpen Access
Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders
Experimental & Molecular Medicine·2024· 9 citedOpen Access
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
The American Journal of Human Genetics·2024· 16 citedOpen Access
Unraveling <i>GRIA1</i> neurodevelopmental disorders: Lessons learned from the p.(<scp>Ala636Thr</scp>) variant
Clinical Genetics·2024· 4 citedOpen Access
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
The American Journal of Human Genetics·2024· 28 citedOpen Access
<i>De novo</i> variants in the non-coding spliceosomal snRNA gene <i>RNU4-2</i> are a frequent cause of syndromic neurodevelopmental disorders
2024· 10 citedOpen Access
A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project
Genetics in Medicine·2024· 4 citedOpen Access
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Frequent Co-authors

Jill Clayton‐Smith(8), Conxi Lázaro(5), Michela Raponi(5), Katrina Tatton‐Brown(5), I. Karen Temple(5), Kate Chandler(5), Jenny Lord(5), Sarju Mehta(4), Bert B.A. de Vries(4), Ludwine Messiaen(4), D. Gareth Evans(4), Peter D. Turnpenny(4), Tabib Dabir(4), David Goudie(4), Rolph Pfundt(4), Julia Rankin(4), Siddharth Banka(4), Mohsan Alvi(4), Moira Blyth(4), David J. Bunyan(4)