Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental DisordersErfan Aref‐Eshghi, Jennifer Masters, Valérie Cormier‐Daire et al.|The American Journal of Human Genetics|2020Cited by 334
Mutations disrupting neuritogenesis genes confer risk for cerebral palsySheng Chih Jin, Ali Fatemi, Sara A. Lewis et al.|Nature Genetics|2020Cited by 174
<scp><i>GGPS1</i></scp>‐associated muscular dystrophy with and without hearing lossRauan Kaiyrzhanov, Reza Maroofian, Luke Perry et al.|Annals of Clinical and Translational Neurology|2022Cited by 11
Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signalingParanchai Boonsawat, Anita Rauch, Reza Asadollahi et al.|The American Journal of Human Genetics|2024Cited by 5