Jenny Lord

University of Southampton

United Kingdom

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Articles (7)

Year:

2024

Year:

2024

Year:

2022

Year:

2022

Year:

2021

Year:

2021

Year:

2021

Collaborators (7)

Pia Ostergaard

Professor of Human Genetics

St George’s, University of London

UNITED KINGDOM

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James Thompson

University of Southampton

UNITED KINGDOM

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Alexandra Martins

INSERM

FRANCE

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Mahesan Niranjan

Professor

University of Southampton

UNITED KINGDOM

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Anne Goriely

University of Oxford

UNITED KINGDOM

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Ruebena Dawes

University of Oxford

UNITED KINGDOM

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Stephan Sanders

Professor of Paediatric Neurogenetics

University of Oxford

UNITED KINGDOM

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Jenny Lord

Research Interests

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Articles (7)

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Predicting the impact of rare variants on RNA splicing in CAGI6

CI-SpliceAI—Improving machine learning predictions of disease causing splicing variants using curated alternative splice sites

Fetal central nervous system anomalies: When should we offer exome sequencing?

Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.

Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

Collaborators (7)

Pia Ostergaard

James Thompson

Alexandra Martins

Mahesan Niranjan

Anne Goriely

Ruebena Dawes

Stephan Sanders

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