Two novel bi‐allelic <scp><i>KDELR2</i></scp> missense variants cause osteogenesis imperfecta with neurodevelopmental features
Stéphanie Efthymiou(Queen Mary University of London), Henry Houlden(University College London), Shazia Maqbool, Davut Pehli̇van(Baylor College of Medicine), Dana Marafi(Baylor College of Medicine), Fatima Rahman, Daniel G. Calame, Jawid M. Fatih(Baylor College of Medicine), Elif Yılmaz Güleç(İstanbul Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi), Janice Yip(National Hospital for Neurology and Neurosurgery), Ruizhi Duan(Baylor College of Medicine), Isabella Herman(Texas Children's Hospital), V. Reid Sutton(Baylor College of Medicine), Richard A. Gibbs(Baylor College of Medicine), Shalini N. Jhangiani(Baylor College of Medicine), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Jill V. Hunter(Baylor College of Medicine), Tadahiro Mitani(Baylor College of Medicine), James R. Lupski(Baylor College of Medicine), Najwa Anwar, Jennifer E. Posey(Baylor College of Medicine)
Cited by 18
Related Papers
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
|New England Journal of Medicine|2013|2k
Genome-wide association study reveals genetic risk underlying Parkinson's disease
|Nature Genetics|2009|2k
Exome Sequencing of Head and Neck Squamous Cell Carcinoma Reveals Inactivating Mutations in <i>NOTCH1</i>
|Science|2011|1.7k
Evolutionary and Biomedical Insights from the Rhesus Macaque Genome
|Science|2007|1.4k