Publication
Recessive loss of DIAPH1 function causes a progressive neurodevelopmental syndrome with variable immunological involvement
Valentina Galassi Deforie, Reza Maroofian, Irem Karagoz, Annie Godwin, Ebtehal Al Sheikh, Gaia Gestri, Maha S. Zaki, Beth L. Woodward, Raghda M. Ghorab, Javeria Raza Alvi, Lama Alabdi, Nadirah Damseh, Reem M. Elshafie, Annarita Scardamaglia, Cesar Alves, Mahum Shaikh, Güliz Gürel Özcan, Abdelrahim A. Sadek, Mahmoud Y. Issa, Pasquale Striano, Mohnish Suri, David Murphy, Motee Ashhab, Rubén Pérez de la Fuente, Ana Arteche-López, Mais O. Hashem, Firdous Abdulwahab, Ashraf H. Aboelanine, Issam Azmi Alkhawaja, Shahnaz Ibrahim, Mirjam van der Burg, Dagmar Berghuis, Gijs WE. Santen, Mehran Beiraghi Toosi, Masoome Alerasool, Atieh Eslahi, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Regina Trollmann, Georgia Vasileiou, Melissa Pauly, Farzad Hashemi-Gorji, Mohammad Miryounesi, Vincenzo Salpietro, Waleed Al-Herz, Stephen P. Carter, Tracy A. Briggs, Tracy Hussell, Terhi Ruuska-Loewald, Jonna Komulainen-Ebrahim, Johanna Uusimaa, Timo Hautala, Sandeep Potluri, Fiona Shackley, Majid Mojarrad, Wendy K. Chung, Stephen W. Wilson, Tipu Sultan, Joseph G. Gleeson, Dana Marafi, Fowzan S. Alkuraya, Grant S. Stewart, Stephanie Efthymiou, Matthew Guille, Peter D. Arkwright, Henry Houlden
Genetics in Medicine, May 2026, Elsevier
DOI: 10.1016/j.gim.2026.102551