Stephanie Efthymiou

68PUBLICATIONS
611CO-AUTHORS
NeurogeneticsEpigenetics (incl. genome methylation and epigenomics)NeonatologyNeurology and neuromuscular diseasesCell and nuclear division
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Publications (68)

|Aug 12, 2026
BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

|Jul 19, 2026
"Severe intellectual disability with cardiac and dermatologic involvement due to homozygous METTL23 frameshift mutation: a case report of two Turkish sisters".

|Jun 26, 2026
Biallelic ATG9B Variants Define a Novel Autophagy-Related Neurodevelopmental Disorder with Cerebellar Ataxia.

|Jun 15, 2026
Cognitive Decline, Neurologic Involvement, and Neonatal Crisis in ABCC9-Related Intellectual Disability and Myopathy Syndrome.

|Jun 06, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

|Apr 15, 2026
Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality.

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Frequent Collaborators

47 joint publications

Henry Houlden

27 joint publications

Reza Maroofian

12 joint publications

Mariasavina Severino

11 joint publications

Fowzan Sami Alkuraya