Beyond the exome: What’s next in diagnostic testing for Mendelian conditionsMonica H. Wojcik, Zeynep Coban‐Akdemir, Seth Berger et al.|The American Journal of Human Genetics|2023Cited by 122
De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic DecompensationDongxue Mao, Hugo J. Bellen, Chloe M. Reuter et al.|The American Journal of Human Genetics|2020Cited by 69
<scp><i>MED27</i></scp> Variants Cause Developmental Delay, Dystonia, and Cerebellar HypoplasiaLinyan Meng, Yaping Yang, Pirjo Isohanni et al.|Annals of Neurology|2021Cited by 25
Two novel bi‐allelic <scp><i>KDELR2</i></scp> missense variants cause osteogenesis imperfecta with neurodevelopmental featuresStéphanie Efthymiou, Henry Houlden, Isabella Herman et al.|American Journal of Medical Genetics Part A|2021Cited by 18
<scp>El‐Hattab‐Alkuraya</scp> syndrome caused by biallelic <scp><i>WDR45B</i></scp> pathogenic variants: Further delineation of the phenotype and genotypeMohammed Almannai, Ayman W. El‐Hattab, Dana Marafi et al.|Clinical Genetics|2022Cited by 11