3q29 interstitial microdeletion syndrome: An inherited case associated with cardiac defect and normal cognition

Congenital Heart Disease in 56,109 Births Incidence and Natural History

Shiela C. Mitchell, Sheldon B. Korones, H. Berendes · Circulation · 1971 · 1.3K citations · Full text

Medicine, Cardiology, Pediatrics +11

PAK3 mutation in nonsyndromic X-linked mental retardation

Kristina M. Allen, Joseph G. Gleeson, Shubha Bagrodia et al. · Nature Genetics · 1998 · 470 citations

Life Sciences, Genetics, Molecular Genetics +13

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

Blake C. Ballif, Aaron Theisen, Justine Coppinger et al. · Molecular Cytogenetics · 2008 · 308 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome

Lionel Willatt, James J. Cox, John Barber et al. · The American Journal of Human Genetics · 2005 · 300 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in the DLG3 Gene Cause Nonsyndromic X-Linked Mental Retardation

Patrick Tarpey, Josep Parnau, Matthew J. Blow et al. · The American Journal of Human Genetics · 2004 · 176 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10