John Pappas

15PUBLICATIONS
201CO-AUTHORS
Gene mappingNeurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Medical infection agents (incl. prions)Metabolic medicine
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Publications (15)

|Oct 13, 2026
Expanding Clinical and Variant Spectrum of CBX1-Related Syndrome: Report of Three Novel Cases.

|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

|Apr 16, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Eric N Anderson, Stephan Drukewitz, Sukhleen Kour

|Oct 30, 2024
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry.

Rachel Rabin, Yoel Hirsch, Kevin T A Booth

|Jan 31, 2024
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

Sébastien Küry, Janelle E Stanton, Geeske van Woerden

|Jun 28, 2023
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.

Alejandro Parra, Rachel Rabin, John Pappas

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Frequent Collaborators

8 joint publications

Rachel Rabin

4 joint publications

Rami Abou Jamra

3 joint publications

Kirsty McWalter

3 joint publications

Renske Oegema