Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseasesPaul C. Marcogliese, Elena Sukarova-Angelovska, Yu-Hsin Chao et al.|Cell Reports|2022Cited by 52
Pathogenic variants in <i>SMARCA5</i> , a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresDong Li, Håkon Håkonarson, Qin Wang et al.|Science Advances|2021Cited by 32
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophyMelanie Brügger, Matias Wagner|The American Journal of Human Genetics|2024Cited by 14
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disordersIvana Lessel, Mariya Kozenko, Anja Barešić et al.|The American Journal of Human Genetics|2025Cited by 5
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disordersChristian Kubisch, Alma Kuechler, Benjamin Cogné et al.|UNC Libraries|2025Cited by 0