Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental RetardationVera M. Kalscheuer, Jozef Gécz, E. Schwinger et al.|The American Journal of Human Genetics|2003Cited by 297
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
Obstetrical and gynecological complications in fragile X carriers: A multicenter studyCharles E. Schwartz, Roger E. Stevenson, Jane H. Dean et al.|American Journal of Medical Genetics|1994Cited by 205
Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart developmentKasper Lage, Lars Allan Larsen, Steven C. Greenway et al.|Proceedings of the National Academy of Sciences|2012Cited by 152
Genetic linkage of autosomal dominant primary open angle glaucoma to chromosome 3q in a Greek pedigreeGeorge Kitsos, K. Psilas, Hans Eiberg et al.|European Journal of Human Genetics|2001Cited by 33