@article{MaroofianGubasKaiyrzhanovetal.2021, author = {Reza Maroofian and Andrea Gubas and Rauan Kaiyrzhanov and Marcello Scala and Khalid Hundallah and Mariasavina Severino and Mohamed S Abdel-Hamid and Jill A Rosenfeld and Darius Ebrahimi-Fakhari and Zahir Ali and Fazal Rahim and Henry Houlden and Sharon A. Tooze and Norah S Alsaleh and Maha S Zaki}, title = {Homozygous missense WIPI2 variants cause a congenital disorder of autophagy with neurodevelopmental impairments of variable clinical severity and disease course}, journal = {Brain communications}, volume = {3}, number = {3}, pages = {1 -- 14}, doi = {10.1093/braincomms/fcab183}, year = {2021}, }