Ruizhi Duan

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 4

Top Topics

Intellectual Disability

High Throughput

Mitochondrial Dna

Top Venues

American journal of medical genetics. Part A

Journal of inherited metabolic disease

This page only lists publications with an associated author ORCID identifier.

Publications

Ruizhi Duan, Dana Marafi, Zhi-Jie Xia, Bobby G Ng, Reza Maroofian, Farhana Taher Sumya, Ahmed K Saad, Haowei Du, Jawid M Fatih, Jill V Hunter, Hasnaa M Elbendary, Shahid M Baig, Uzma Abdullah, Zafar Ali, Stephanie Efthymiou, David Murphy, Tadahiro Mitani, Marjorie A Withers, Shalini N Jhangiani, Zeynep Coban-Akdemir, Daniel G Calame, Davut Pehlivan, Richard A Gibbs, Jennifer E Posey, Henry Houlden, Vladimir V Lupashin, Maha S Zaki, Hudson H Freeze, James R. Lupski
Biallelic missense variants in COG3 cause a congenital disorder of glycosylation with impairment of retrograde vesicular trafficking. Journal of inherited metabolic disease (2023)
Stephanie Efthymiou, Isabella Herman, Fatima Rahman, Najwa Anwar, Reza Maroofian, Janice Yip, Tadahiro Mitani, Daniel G Calame, Jill V Hunter, V Reid Sutton, Elif Yilmaz Gulec, Ruizhi Duan, Jawid M Fatih, Dana Marafi, Davut Pehlivan, Shalini N Jhangiani, Richard A Gibbs, Jennifer E Posey, null null, Shazia Maqbool, James R. Lupski, Henry Houlden
Two novel bi-allelic KDELR2 missense variants cause osteogenesis imperfecta with neurodevelopmental features. American journal of medical genetics. Part A 185 (7) (2021)
Ruizhi Duan, Nebal Waill Saadi, Christopher M Grochowski, Ghalia Y Bhadila, Afnan Faridoun, Tadahiro Mitani, Haowei Du, Jawid M Fatih, Shalini N Jhangiani, Zeynep C Akdemir, Richard A Gibbs, Davut Pehlivan, Jennifer E Posey, Dana Marafi, James R. Lupski
A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. American journal of medical genetics. Part A 185 (7) (2021)
Ghada M H Abdel-Salam, Ruizhi Duan, Mohamed S Abdel-Hamid, Inas S M Sayed, Shalini N Jhangiani, Ziad Khan, Haowei Du, Richard A Gibbs, Jennifer E Posey, Dana Marafi, James R. Lupski
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. American journal of medical genetics. Part A (2021)