Diana Baralle

United Kingdom

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Articles (15)

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2025

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2025

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2025

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2025

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2024

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2024

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2024

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2024

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2024

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2024

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2024

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2023

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2022

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2022

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2021

Collaborators (13)

Meena Balasubramanian

University of Sheffield

UNITED KINGDOM

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John Holloway

University of Southampton

UNITED KINGDOM

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Luke Mason

King's College London

UNITED KINGDOM

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Miranda Durkie

Deputy head of rare disease

UNITED KINGDOM

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David Tumbarello

Lecturer/Group Leader

UNITED KINGDOM

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J. Arjuna Ratnayaka

University of Southampton

UNITED KINGDOM

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Eloise Keeling

University of Southampton

UNITED KINGDOM

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Helena Lee

Associate Professor & Consultant Ophthalmologist

University of Southampton

UNITED KINGDOM

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Amy Goodwin

King's College London

UNITED KINGDOM

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Sarah Ennis

Professor of Genomics

University of Southampton

UNITED KINGDOM

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Matthew Guille

Academic, Professor, Professor of Developmental Genetics

University of Portsmouth

UNITED KINGDOM

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Nina Orfali

Trinity College Dublin, The University of Dublin

IRELAND

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Htoo Aung Wai

University of Southampton

UNITED KINGDOM

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Diana Baralle

Research Interests

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Articles (15)

Whole RNA-Seq Analysis Reveals Longitudinal Proteostasis Network Responses to Photoreceptor Outer Segment Trafficking and Degradation in RPE Cells

Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK)

Disrupted visual attention relates to cognitive development in infants with Neurofibromatosis Type 1

Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysis

Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach

Epidemiology of Robin sequence: geographical variation in the UK/Ireland

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.

Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants.

The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.

Tailored antisense oligonucleotides designed to correct aberrant splicing reveal actionable groups of mutations for rare genetic disorders.

A Panel-Agnostic Strategy ‘HiPPo’ Improves Diagnostic Efficiency in the UK Genomic Medicine Service

Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)

Short amplicon reverse transcription‐polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis

‘Next Generation Sequencing’ as a diagnostic tool in paediatrics

Collaborators (13)

Meena Balasubramanian

John Holloway

Luke Mason

Miranda Durkie

David Tumbarello

J. Arjuna Ratnayaka

Eloise Keeling

Helena Lee

Amy Goodwin

Sarah Ennis

Matthew Guille

Nina Orfali

Htoo Aung Wai

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