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The Journal of Molecular Diagnostics : JMD|January 26, 2007
Development of a web-based query tool for quality assurance of clinical molecular genetic test resultsMatthew J McGinniss, Rebecca Chen, Victoria M Pratt, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 23, 2005
Technical validation of a multiplex platform to detect thirty mutations in eight genetic diseases prevalent in individuals of Ashkenazi Jewish descentCharles M Strom, Richard A Janeczko, Ben Anderson, et al.
American Journal of Human Genetics|January 11, 1992
Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21M J McGinniss, H H Kazazian, G Stetten, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 17, 2006
CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotypeWeimin Sun, Ben Anderson, Joy Redman, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 25, 1991
Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII geneM Higuchi, H H Kazazian, L Kasch, et al.
Human Genetics|December 20, 2005
Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screeningFeras M Hantash, Joy B Redman, Kelsey Starn, et al.
Human Genetics|September 29, 2005
Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samplesMatthew J McGinniss, Christina Chen, Joy B Redman, et al.
American Journal of Medical Genetics|July 1, 1993
Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21M J McGinniss, C Rosenberg, G Stetten, et al.
Genomics|April 1, 1993
Severe hemophilia A in a female by cryptic translocation: order and orientation of factor VIII within Xq28B R Migeon, M J McGinniss, S E Antonarakis, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 19, 2005
Detection of 677CT/1298AC "double variant" chromosomes: implications for interpretation of MTHFR genotyping resultsNicholas M Brown, Victoria M Pratt, Arlene Buller, et al.
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