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Molecular Genetics & Genomic Medicine|September 22, 2016
Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient careAlison Hamilton, Martine Tétreault, David A Dyment, et al.Journal of Medical Genetics|September 11, 1998
Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndromeN Flanagan, S A Boyadjiev, J Harper, et al.Genomics|April 25, 2000
Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)V Praphanphoj, B K Goodman, G H Thomas, et al.Journal of Inherited Metabolic Disease|July 23, 2003
The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemiaZ N Al-Hassnan, S A Boyadjiev, V Praphanphoj, et al.The Journal of Pediatrics|June 1, 1992
Cobalamin C defect associated with hemolytic-uremic syndromeM T Geraghty, E J Perlman, L S Martin, et al.Clinical Genetics|July 13, 2013
Whole-exome sequencing expands the phenotype of Hunter syndromeS M Nikkel, L Huang, R Lachman, et al.American Journal of Medical Genetics. Part A|January 29, 2011
A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomaliesMelissa T Carter, Michael T Geraghty, Laura De La Cruz, et al.American Journal of Human Genetics|December 5, 1998
Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndromeR A Montgomery, M T Geraghty, E Bull, et al.Proceedings of the National Academy of Sciences of the United States of America|March 17, 1999
Detecting patterns of protein distribution and gene expression in silicoM T Geraghty, D Bassett, J C Morrell, et al.Molecular Genetics and Metabolism|July 20, 2002
Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT)Denise L M Goh, Ankita Patel, George H Thomas, et al.Pageof 11