Tahsin Stefan Barakat

42PUBLICATIONS
512CO-AUTHORS
Infant and child healthEpigenetics (incl. genome methylation and epigenomics)Gene and molecular therapyNeurogeneticsNanotoxicology, health and safety
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (42)

|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 23, 2026
Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder.

|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 10, 2026
Reply to: "Unravelling the Complexity of VPS16 Splicing: Clinical Implications and Unresolved Questions".

Ana Westenberger, Edgard Verdura, Mandy Radefeldt

Pageof 7

Frequent Collaborators

7 joint publications

Rachel Schot

5 joint publications

Federico Ferraro

5 joint publications

Frank Sleutels

5 joint publications

Tjakko van Ham