1. Polla, Daniel L, Farazi Fard, Mohammad Ali, Tabatabaei, Zahra, Faghihi, Mohammad Ali, van Bokhoven, Hans. 2021. Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder. In Genetics in medicine : official journal of the American College of Medical Genetics, 23, 1246-1254. doi:10.1038/s41436-021-01133-w. https://pubmed.ncbi.nlm.nih.gov/33824500/
2. von Hardenberg, Sandra, Wallaschek, Hannah, Du, Chen, Schmidt, Gunnar, Auber, Bernd. 2023. A holistic approach to maximise diagnostic output in trio exome sequencing. In Frontiers in pediatrics, 11, 1183891. doi:10.3389/fped.2023.1183891. https://pubmed.ncbi.nlm.nih.gov/37274821/