Nicola Whiffin

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Imperial College London

United Kingdom

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Understanding the impact of ‘near-coding’ variation in human disease

Open Date: 2020-05-01

Close Date: 2025-04-30

Articles (11)

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2025

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2024

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2024

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2021

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2021

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2020

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2020

Collaborators (7)

Qingbo Wang

Associate Professor

University of Tokyo

JAPAN

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Matthew Bown

Professor of Vascular Surgery

University of Leicester

UNITED KINGDOM

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Tracy Briggs

The University of Manchester

UNITED KINGDOM

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Hariharan Raju

Macquarie University

AUSTRALIA

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Jamie Ellingford

The University of Manchester

UNITED KINGDOM

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Simon Hubbard

The University of Manchester

UNITED KINGDOM

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E Shyong Tai

National University of Singapore (NUS)

SINGAPORE

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Nicola Whiffin

Research Interests

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Contact this professor

Recent Grants

Articles (11)

The role of untranslated region variants in Mendelian disease: a review

Improving estimates of loss-of-function constraint for short genes

Modulation of prion protein expression through cryptic splice site manipulation

Influence of age and sex on the diagnostic yield of inherited cardiac conditions in sudden arrhythmic death syndrome decedents

Not all exons are protein coding: Addressing a common misconception

2022 Curt Stern Award introduction: Heidi Rehm

MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease.

Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals (Nature Communications, (2020), 11, 1, (2523), 10.1038/s41467-019-10717-9)

Author Correction: The effect of LRRK2 loss-of-function variants in humans

The effect of LRRK2 loss-of-function variants in humans

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Collaborators (7)

Qingbo Wang

Matthew Bown

Tracy Briggs

Hariharan Raju

Jamie Ellingford

Simon Hubbard

E Shyong Tai

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