Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum
Daniel G. Calame, Alison Male(Great Ormond Street Hospital), Timothy Lotze(Baylor College of Medicine), Majid Ghasemi(Isfahan University of Medical Sciences), Sylvia Safwat(Rutgers, The State University of New Jersey), Zahra Firoozfar, Subhadra Ramanathan(Loma Linda University), Kyle P. Flannery(Johnson University), Zain Dardas(Baylor College of Medicine), Amir Bahreini(University of Pittsburgh), Dana Marafi(Baylor College of Medicine), Stéphanie Efthymiou(Istituto Giannina Gaslini), Houda Zghal Elloumi, Kerby C. Oberg(Loma Linda University), Robin D. Clark(Loma Linda University Children's Hospital), Nourelhoda A. Haridy(Assiut University), Jawid M. Fatih(Baylor College of Medicine), Amber Begtrup, David Murphy(National Hospital for Neurology and Neurosurgery), Brianna Rezich(Nebraska Medical Center), Isabella Herman(Texas Children's Hospital), Varun Kannan(Baylor College of Medicine), Tazeen Ashraf(Guy's and St Thomas' NHS Foundation Trust), Jill A. Rosenfeld(Baylor College of Medicine), Chaya N. Murali(Baylor College of Medicine), Lama AlAbdi(King Faisal Specialist Hospital & Research Centre), Sedat Işıkay(Gaziantep İslam Bilim ve Teknoloji Üniversitesi), Hamid Reza Goldouzi(Mashhad University of Medical Sciences), Varunvenkat M. Srinivasan(Indira Gandhi Institute of Child Health), Nancy C.P. Leong(National University of Singapore), Ehsan Ghayoor Karimiani(Manchester Academic Health Science Centre), Fatemeh Eghbal, Shalini N. Jhangiani(Texas Biomedical Research Institute), Lance H. Rodan(Boston Children's Hospital), Sam Loughlin(Great Ormond Street Hospital for Children NHS Foundation Trust), Mohamed S. Abdel‐Hamid(National Research Centre), Michael Staton(Loma Linda University), Shahryar Alavi(National Hospital for Neurology and Neurosurgery), Haowei Du(Baylor College of Medicine), Ramy Saad(Great Ormond Street Hospital for Children NHS Foundation Trust), Catharina Wenman(Great Ormond Street Hospital for Children NHS Foundation Trust), Sohil G Patankar(Massachusetts Eye and Ear Infirmary), Farah Ammouri(Boys Town), Dat Nguyen(National University of Singapore), Zeynep Coban-Akdemir(Baylor Genetics), Vykuntaraju K. Gowda(Indira Gandhi Institute of Child Health), Jovi Huixin Wong(National University of Singapore), Riccardo Sangermano(Radboud University Nijmegen), Puravi Panda(National University of Singapore), Mahya Ebrahimi Nasab(Yazd University)
Cited by 10
Related Papers
Evolutionary and Biomedical Insights from the Rhesus Macaque Genome
|Science|2007|1.4k
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
|New England Journal of Medicine|2008|811
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
|New England Journal of Medicine|2016|774
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
|The American Journal of Human Genetics|2017|456