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Human Genetics|March 10, 1999
Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patientJ Gecz, E Baker, A Donnelly, et al.Nature Genetics|December 1, 1995
Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2N H Robin, G J Feldman, A L Aronson, et al.Human Genetics|May 26, 1998
Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactylyF R Vargas, E Roessler, K Gaudenz, et al.Nature|October 12, 1999
Familial dementia caused by polymerization of mutant neuroserpinR L Davis, A E Shrimpton, P D Holohan, et al.American Journal of Medical Genetics|October 23, 1997
Skeletal anomalies and deformities in patients with deletions of 22q11J E Ming, D M McDonald-McGinn, T E Megerian, et al.Molecular Syndromology|November 30, 2011
TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and PhenotypeA A Keaton, B D Solomon, E F Kauvar, et al.Molecular Psychiatry|May 25, 2011
A cooperative interaction between LPHN3 and 11q doubles the risk for ADHDM Jain, J I Vélez, M T Acosta, et al.American Journal of Human Genetics|March 1, 1997
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndromeM Muenke, K W Gripp, D M McDonald-McGinn, 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.Pageof 12