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List of works by Stephanie Efthymiou

A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea

scientific article published on 2 February 2018

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

scientific article published on 12 July 2019

Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

scientific article published on 01 May 2019

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

scientific article published on 29 March 2019

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

scientific article published on 03 August 2021

Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy

scientific article published on 07 January 2021

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

publication published on 01 April 2021

Neuronal intranuclear inclusion disease is genetically heterogeneous

scientific article published on 10 August 2020

The genetics of intellectual disability: advancing technology and gene editing

scientific article published on 16 January 2020

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