Clinical and genetic aspects of KBG syndromeKaren Low, Shelagh Joss, Emma Kivuva et al.|American Journal of Medical Genetics Part A|2016Cited by 138
Delineation of two distinct 6p deletion syndromesAngela Davies, Jiannis Ragoussis, Ghazala Mirza et al.|Human Genetics|1999Cited by 113
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behaviorHolly K. Harris, Christopher Gray, Tojo Nakayama et al.|Genetics in Medicine|2021Cited by 91
Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencingKaren Stals, Sian Ellard, Matthew N. Wakeling et al.|Prenatal Diagnosis|2017Cited by 78
Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial casesMelita Irving, Jonathan Berg, Helen Hanson et al.|American Journal of Medical Genetics Part A|2003Cited by 68