List of works by Miranda Splitt

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

scientific article published on 14 June 2019

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

scientific article published on 13 July 2018

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

scientific article published on 05 February 2021

Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain

scientific article published on 5 January 2016

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

scientific article published on 6 March 2018

Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1.

scientific article published on 20 June 2017

Quantifying the contribution of recessive coding variation to developmental disorders

scientific article published in Science

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

scientific article published on 15 June 2018

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

scientific article published on 26 August 2015

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