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Emma Baple

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Professor of Genomic Medicine, Consultant Clinical Genetics

University of Exeter

United Kingdom

Research Interests

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Recent Grants

Grant: Open

Precision in penetrance estimates: Genomic analysis in inherited cardiac conditions

Open Date: 2026-09-01

Close Date: 2029-08-01

Grant: Close

Development of online educational resource focussed on reducing global inequalities in genomic medicine and research

Open Date: 2025-03-01

Close Date: 2026-02-28

Grant: Open

Evaluating scientific and ethical approaches to newborn screening with whole genome sequencing using large-scale population cohorts

Open Date: 2024-02-01

Close Date: 2027-01-31

Grant: Open

Investigating the molecular role of TMEM63C and relevance of lipidomic imbalance in hereditary spastic paraplegia

Open Date: 2023-08-01

Close Date: 2027-05-01

Grant: Close

Empowering rare disease diagnostic testing through improved interpretation of human genetic variation

Open Date: 2022-07-01

Close Date: 2024-01-31

Articles (20)

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Collaborators (16)

Stefan Barakat

Associate professor

Erasmus MC

NETHERLANDS

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James Fasham

University of Exeter

UNITED KINGDOM

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Robin Hayeems

Senior Scientist

Hospital for Sick Children

CANADA

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Michelle de Silva

Murdoch Childrens Research Institute

AUSTRALIA

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Clare Turnbull

Professor in Translational Cancer Genetics

Institute of Cancer Research

UNITED KINGDOM

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James Buchanan

Senior Lecturer

Queen Mary University of London

UNITED KINGDOM

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Claire G Salter

Academic Clinical Lecturer

University of Southampton

UNITED KINGDOM

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Alistair Pagnamenta

University of Exeter

UNITED KINGDOM

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Shahryar Alavi

University College London

UNITED KINGDOM

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Makram Obeid

Assistant Professor, Pediatric Epilepsy Medical Director

Indiana University School of Medicine

UNITED STATES

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Andrew Parrish

Consultant Clinical Scientist, Head of Genomics Laboratory

UNITED KINGDOM

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Monika Oláhová

Northumbria University

UNITED KINGDOM

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Zafar Iqbal

Oslo University Hospital

NORWAY

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Jacob Day

Senior Research Fellow

University of Exeter

UNITED KINGDOM

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Lettie E. Rawlins

UNITED KINGDOM

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Joseph Leslie

Associate Lecturer

University of Exeter

UNITED KINGDOM

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Emma Baple

Research Interests

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Recent Grants

Articles (20)

Uncovering apparent incomplete penetrance of TSC1/TSC2 variants: Insights from multiple population cohorts and implications for newborn screening

Reduced penetrance of COL1A1/2 pathogenic variants linked with osteogenesis imperfecta: analysis of a large population cohort

Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion

Prevalence and penetrance of heritable retinoblastoma in two adult population cohorts: implications for genomic newborn screening

Characterisation of the SMN1/2 locus using a highly specific variant caller on whole-genome sequence data from 500,000 individuals

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.

Stepwise Humanization of the Yeast TRAPP Core Enables Functional Analysis of TRAPP Variants

The British Society for Genetic Medicine guidance on managing incidental findings identified during rare disease genomic testing

Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani families

Proteasome dysfunction underlies HERC2-linked neurodevelopmental disorder with Angelman-like clinical features

Reducing the diagnostic odyssey in rare disease: why screening is not the only answer

Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities.

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

Response to Haliloğlu et al

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia.

Determining the value of genomics in healthcare.

Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

Pathogenic <i>PDE12</i> variants impair mitochondrial RNA processing causing neonatal mitochondrial disease

Collaborators (16)

Stefan Barakat

James Fasham

Robin Hayeems

Michelle de Silva

Clare Turnbull

James Buchanan

Claire G Salter

Alistair Pagnamenta

Shahryar Alavi

Makram Obeid

Andrew Parrish

Monika Oláhová

Zafar Iqbal

Jacob Day

Lettie E. Rawlins

Joseph Leslie

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