John Pappas
14PUBLICATIONS
193CO-AUTHORS
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Publications (14)
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|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
|Aug 09, 2022
Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population.Rachel Rabin, Yoel Hirsch, Wendy K Chung
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Frequent Collaborators
7 joint publications
Rachel Rabin
4 joint publications
Rami Abou Jamra
3 joint publications
Kevin T Booth
3 joint publications
Anita Rauch
3 joint publications
Kirsty McWalter
3 joint publications
Renske Oegema
2 joint publications
Wallid Deb
2 joint publications
Victoria Most
2 joint publications
Tzung-Chien Hsieh
2 joint publications
Sébastien Küry
