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Miranda Splitt

7PUBLICATIONS

43CO-AUTHORS

Epidemiological modellingNeurogeneticsMolecular medicineEpigenetics (incl. genome methylation and epigenomics)Cellular nervous system

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Publications (7)

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|Feb 06, 2021

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.

Víctor Faundes, Martin D Jennings, Siobhan Crilly

|Jun 16, 2019

De novo variants in CNOT3 cause a variable neurodevelopmental disorder.

R Martin, M Splitt, D Genevieve

|Nov 10, 2018

Quantifying the contribution of recessive coding variation to developmental disorders.

Hilary C Martin, Wendy D Jones, Rebecca McIntyre

|Jul 15, 2018

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia.

Caroline Michot, Carine Le Goff, Edward Blair

|Jun 17, 2018

SET de novo frameshift variants associated with developmental delay and intellectual disabilities.

Ruth Richardson, Miranda Splitt, Ruth Newbury-Ecob

|Mar 08, 2018

Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.

K J Low, K Stals, R Caswell

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Frequent Collaborators

1 joint publications

K Stals

1 joint publications

R Caswell

1 joint publications

A Piton

1 joint publications

Jozef Gecz

1 joint publications

Brigitte Gilbert-Dussardier

1 joint publications

Judith M A Verhagen

1 joint publications

Alain Verloes

1 joint publications

Hilary C Martin

1 joint publications

Wendy D Jones

1 joint publications

Rebecca McIntyre

Frequent Collaborators

1 joint publications

K Stals

1 joint publications

R Caswell

1 joint publications

A Piton

1 joint publications

Jozef Gecz

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