Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric PhenotypesHeather C. Mefford, Anja De Coene, Zhaoshi Jiang et al.|New England Journal of Medicine|2008Cited by 811
A complex structural variant near SOX3 causes X-linked split-hand/foot malformationElke de Boer, Lisenka E.L.M. Vissers, Carlo Marcelis et al.|Human Genetics and Genomics Advances|2023Cited by 2