Tahsin Stefan Barakat

43PUBLICATIONS
518CO-AUTHORS
NeurogeneticsInfant and child healthEpigenetics (incl. genome methylation and epigenomics)Cardiology (incl. cardiovascular diseases)Sensory systems
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Publications (43)

|Oct 10, 2026
A cross-tissue splicing signature as a quantitative biomarker for ReNU syndrome.

|Jul 22, 2026
Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.

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

|Apr 09, 2026
Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies.

Amandine Santini, Angelo Tognon, Anne-Claire Richard

|Mar 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

Daniel Greene, Rodrigo Mendez, Jon Lees

|Feb 04, 2026
Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature.

Fatimah Albuainain, Myrrhe Venema, Rachel Schot

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Frequent Collaborators

7 joint publications

Rachel Schot

5 joint publications

Federico Ferraro

5 joint publications

Frank Sleutels

5 joint publications

Tjakko van Ham