Publication
Biallelic variation in the choline and ethanolamine transporterFLVCR1underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
Daniel G. Calame, Jovi Huixin Wong, Puravi Panda, Dat Tuan Nguyen, Nancy C.P. Leong, Riccardo Sangermano, Sohil G. Patankar, Mohamed Abdel-Hamid, Lama AlAbdi, Sylvia Safwat, Kyle P. Flannery, Zain Dardas, Jawid M. Fatih, Chaya Murali, Varun Kannan, Timothy E. Lotze, Isabella Herman, Farah Ammouri, Brianna Rezich, Stephanie Efthymiou, Shahryar Alavi, David Murphy, Zahra Firoozfar, Mahya Ebrahimi Nasab, Amir Bahreini, Majid Ghasemi, Nourelhoda A. Haridy, Hamid Reza Goldouzi, Fatemeh Eghbal, Ehsan Ghayoor Karimiani, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Haowei Du, Shalini N. Jhangiani, Zeynep Coban-Akdemir, Dana Marafi, Lance Rodan, Sedat Isikay, Jill A. Rosenfeld, Subhadra Ramanathan, Michael Staton, Kerby C. Oberg, Robin D. Clark, Catharina Wenman, Sam Loughlin, Ramy Saad, Tazeen Ashraf, Alison Male, Shereen Tadros, Reza Boostani, Ghada M.H. Abdel-Salam, Maha Zaki, Ebtesam Abdalla, M. Chiara Manzini, Davut Pehlivan, Jennifer E. Posey, Richard A. Gibbs, Henry Houlden, Fowzan S. Alkuraya, Kinga Bujakowska, Reza Maroofian, James R. Lupski, Long Nam Nguyen
February 2024, Cold Spring Harbor Laboratory Press
DOI: 10.1101/2024.02.09.24302464