Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric PhenotypesHeather C. Mefford, Anja De Coene, Amanda Collins et al.|New England Journal of Medicine|2008Cited by 811
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizuresAndrew J. Sharp, Evan E. Eichler, Heather C. Mefford et al.|Nature Genetics|2008Cited by 591
Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and EpilepsyHeather C. Mefford, Christine Bellanné‐Chantelot, Séverine Clauin et al.|The American Journal of Human Genetics|2007Cited by 268
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with PhenotypeMichael S. Breen, Silvia De Rubeis, Paras Garg et al.|The American Journal of Human Genetics|2020Cited by 54
Episignatures stratifying ADNP syndrome show modest correlation with phenotypeMichael S. Breen, Silvia De Rubeis, Paras Garg et al.|bioRxiv (Cold Spring Harbor Laboratory)|2020Cited by 7