Ruizhi Duan
5PUBLICATIONS
26CO-AUTHORS
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Publications (5)
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|Sep 16, 2025
De novo pathogenic CSF1R variant implicates microglial dysfunction in pathogenesis of febrile infection-related epilepsy syndrome.Kristen S Fisher, Jesse M Levine, Alexander Ankar
|Sep 15, 2023
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking.Ruizhi Duan, Dana Marafi, Zhi-Jie Xia
|Nov 11, 2021
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.Ghada M H Abdel-Salam, Ruizhi Duan, Mohamed S Abdel-Hamid
|May 08, 2021
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features.Stephanie Efthymiou, Isabella Herman, Fatima Rahman
|Apr 02, 2021
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy.Ruizhi Duan, Nebal Waill Saadi, Christopher M Grochowski
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Frequent Collaborators
4 joint publications
James R Lupski
4 joint publications
Jennifer E Posey
4 joint publications
Dana Marafi
3 joint publications
Richard A Gibbs
2 joint publications
Daniel G Calame
1 joint publications
Nebal Waill Saadi
1 joint publications
Christopher M Grochowski
1 joint publications
Ghalia Bhadila
1 joint publications
Pei-Chien Tsai
1 joint publications
Haowei Du
