BibTex format
@article{Rosenhahn:2022:10.1016/j.ajhg.2022.06.008,
author = {Rosenhahn, E and O'Brien, TJ and Zaki, MS and Sorge, I and Wieczorek, D and Rostasy, K and Vitobello, A and Nambot, S and Alkuraya, FS and Hashem, MO and Alhashem, A and Tabarki, B and Alamri, AS and Al, Safar AH and Bubshait, DK and Alahmady, NF and Gleeson, JG and Abdel-Hamid, MS and Lesko, N and Ygberg, S and Correia, SP and Wredenberg, A and Alavi, S and Seyedhassani, SM and Nasab, ME and Hussien, H and Omar, TE and Harzallah, I and Touraine, R and Tajsharghi, H and Morsy, H and Houlden, H and Shahrooei, M and Ghavideldarestani, M and Abdel-Salam, GMH and Torella, A and Zanobio, M and Terrone, G and Brunetti-Pierri, N and Omrani, A and Hentschel, J and Lemke, JR and Sticht, H and Abou, Jamra R and Brown, AEX and Maroofian, R and Platzer, K},
doi = {10.1016/j.ajhg.2022.06.008},
journal = {American Journal of Human Genetics},
pages = {1421--1435},
title = {Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications},
url = {http://dx.doi.org/10.1016/j.ajhg.2022.06.008},
volume = {109},
year = {2022}
}