Miranda Splitt
7PUBLICATIONS
43CO-AUTHORS
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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
