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Journal of the American College of Cardiology|August 26, 1998
Frequency of 22q11 deletions in patients with conotruncal defectsE Goldmuntz, B J Clark, L E Mitchell, et al.
American Journal of Human Genetics|October 10, 2007
Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humansJ D Karkera, J S Lee, E Roessler, et al.
American Journal of Medical Genetics|July 16, 1999
Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletionM Gerdes, C Solot, P P Wang, et al.
Molecular Psychiatry|March 2, 2011
Rare structural variation of synapse and neurotransmission genes in autismX Gai, H M Xie, J C Perin, et al.
Genomics|July 15, 1996
Regional localization of over 300 loci on human chromosome 22 using a somatic cell hybrid mapping panelM L Budarf, B Eckman, D Michaud, et al.
Genetic Counseling (Geneva, Switzerland)|April 7, 1999
The Philadelphia story: the 22q11.2 deletion: report on 250 patientsD M McDonald-McGinn, R Kirschner, E Goldmuntz, et al.
Genetic Testing|January 1, 1997
The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patientsD M McDonald-McGinn, D LaRossa, E Goldmuntz, et al.
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