Neurology

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

  • Authors: Avinash V. Dharmadhikari; Maria Alba Abad; Sheraz Khan; Reza Maroofian; Tristan T. Sands; Farid Ullah; Itaru Samejima; Martin A. Wear; Kiara E. Moore; Elena Kondakova; Natalia Mitina; Theres Schaub; Grace K. Lee; Christine H. Umandap; Sara M. Berger; Alejandro D. Iglesias; Bernt Popp; Rami Abou Jamra; Heinz Gabriel; Stefan Rentas; Alyssa L Rippert; Kosuke Izumi; Laura K. Conlin; Daniel C. Koboldt; Theresa Mihalic Mosher; Scott E. Hickey; Dara V.F. Albert; Haley Norwood; Amy Feldman Lewanda; Hongzheng Dai; Pengfei Liu; Tadahiro Mitani; Dana Marafi; Davut Pehlivan; Jennifer E. Posey; Natalie Lippa; Natalie Vena; Erin L Heinzen; David B. Goldstein; Cyril Mignot; Jean-Madeleine de Sainte Agathe; Nouriya Abbas Al-Sannaa; Mina Zamani; Saeid Sadeghian; Reza Azizimalamiri; Tahere Seifia; Maha S. Zaki; Ghada M.H. Abdel-Salam; Mohamed Abdel-Hamid; Lama Alabdi; Fowzan Sami Alkuraya; Heba Dawoud; Aya Lofty; Peter Bauer; Giovanni Zifarelli; Erum Afzal; Faisal Zafar; Stephanie Efthymiou; Daniel Gossett; Meghan C. Towne; Raey Yeneabat; Sandeep N. Wontakal; Vimla S. Aggarwal; Jill A. Rosenfeld; Victor Tarabykin; Shinya Ohta; James R. Lupski; Henry Houlden; William C. Earnshaw; Erica E. Davis; A. Arockia Jeyaprakash; Jun Liao
  • Collaborators: Baylor College of Medicine; Centogene GmbH; Charité - Universitätsmedizin Berlin; Children's Hospital Los Angeles; Children's Hospital of Philadelphia; Children's National Rare Disease Institute; Columbia University; DMG Children's Rehabilitative Services; Duke University School of Medicine; GeneDx; Hokkaido University; Human Genetics and Genome Research Institute, National Research Centre, Egypt; John Hopkins Aramco Health Care; Johns Hopkins University School of Medicine; King Faisal Specialist Hospital and Research Center; Kuwait University; Ludwig-Maximilians University; Narges Medical Genetics and Prenatal Diagnosis Laboratory; Northwestern University Feinberg School of Medicine; Ohio State University (OSU); Praxisfür Humangenetik Tübingen; Shahid Chamran University of Ahvaz; Sorbonne Universités, Paris, France; Tanta University; Texas Child Neurology; The Children's Hospital and The Institute of Child Health, Multan, Pakistan; University College London; University Medical Center Leipzig; University of Edinburgh; University of Nizhny; University of North Carolina at Chapel Hill
  • Journal: Nature Communications
  • Date: 2025 - Feb
  • Topics: Gene Characterization Phenotype Characterization

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