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
Targeted Sequence Capture and High-Throughput Sequencing in the Molecular Diagnosis of Ichthyosis and Other Skin DiseasesClaire A. Scott, David P. Kelsell, Vincent Plagnol et al.|Journal of Investigative Dermatology|2012Cited by 35