Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease PhenotypeVictor Murcia Pienkowski, Rafał Płoski, Katarzyna A. Pachota et al.|Journal of Clinical Medicine|2020Cited by 9
Macrocephaly and developmental delay caused by missense variants in RAB5CKlaas Koop, Ashley Andrews, Weimin Yuan et al.|Human Molecular Genetics|2023Cited by 4