Rami Jamra

43PUBLICATIONS
586CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesCell and nuclear divisionEpigenetics (incl. genome methylation and epigenomics)Respiratory diseases
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Publications (43)

|Jun 15, 2026
Evidence supporting the role of GIGYF2 in synapse development and autism.

|Nov 26, 2025
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske M van Woerden

|Oct 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat

|Oct 17, 2025
CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

Kamal Khan, Erika Tavares, Katherine Bishara

|Sep 17, 2025
PIGC-related encephalopathy: Lessons learned from 18 new probands.

Allan Bayat, Maria Carla Borroto, Smrithi Salian

|May 23, 2025
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.

Mathis Hildonen, Andrea Ciolfi, Marco Ferilli

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Frequent Collaborators

12 joint publications

Konrad Platzer

11 joint publications

Johannes R Lemke

8 joint publications

Bernt Popp

7 joint publications

Reza Maroofian