Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: Results from a collaborative study
Monaghan, K.G., Highsmith, W.E., Amos, J., Pratt, V.M., Roa, B., Friez, M., Pike-Buchanan, L.L., Buyse, I.M., Redman, J.B., Strom, C.M., Young, A.L., Sun, W.
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Published in Genetics in medicine (01.09.2004)
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Novel and recurrent rearrangements in the CFTR gene : clinical and laboratory implications for cystic fibrosis screening
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Published in Human genetics (01.03.2006)
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Cystic fibrosis screening: Lessons learned from the first 320,000 patients
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Published in Genetics in medicine (01.05.2004)
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Molecular screening for diseases frequent in Ashkenazi Jews: Lessons learned from more than 100,000 tests performed in a commercial laboratory
Strom, Charles M., Crossley, Beryl, Redman, Joy B., Quan, Franklin, Buller, Arlene, McGinniss, Matthew J., Sun, Weimin
Published in Genetics in medicine (01.05.2004)
Published in Genetics in medicine (01.05.2004)
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Detection of 677CT/1298AC “double variant” chromosomes: Implications for interpretation of MTHFR genotyping results
Brown, Nicholas M., Pratt, Victoria M., Buller, Arlene, Pike-Buchanan, Lisa, Redman, Joy B., Sun, Weimin, Chen, Rebecca, Crossley, Beryl, McGinniss, Matthew J., Quan, Franklin, Strom, Charles M.
Published in Genetics in medicine (01.04.2005)
Published in Genetics in medicine (01.04.2005)
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Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T
Buller, Arlene, Olson, Susan, Redman, Joy B., Hantash, Feras, Chen, Rebecca, Strom, Charles M.
Published in Genetics in medicine (01.03.2004)
Published in Genetics in medicine (01.03.2004)
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Cystic fibrosis testing 8 years on: Lessons learned from carrier screening and sequencing analysis
Strom, Charles M., Crossley, Beryl, Buller-Buerkle, Arlene, Jarvis, Michael, Quan, Franklin, Peng, Mei, Muralidharan, Kasinathan, Pratt, Victoria, Redman, Joy B., Sun, Weimin
Published in Genetics in medicine (01.02.2011)
Published in Genetics in medicine (01.02.2011)
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Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory
Strom, Charles M, Crossley, Beryl, Redman, Joy B, Buller, Arlene, Quan, Franklin, Peng, Mei, McGinnis, Matthew, Fenwick, Jr, Raymond G, Sun, Weimin
Published in Genetics in medicine (01.01.2007)
Published in Genetics in medicine (01.01.2007)
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Molecular testing: improving patient care through partnering with laboratory genetic counselors
Scacheri, Cheryl, Redman, Joy B., Pike-Buchanan, Lisa, Steenblock, Kelle
Published in Genetics in medicine (01.05.2008)
Published in Genetics in medicine (01.05.2008)
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Extensive sequencing of the CFTR gene : lessons learned from the first 157 patient samples
MCGINNISS, Matthew J, CHEN, Christina, STROM, Charles M, REDMAN, Joy B, BULLER, Arlene, QUAN, Franklin, MEI PENG, GIUSTI, Robert, HANTASH, Feras M, DONGHUI HUANG, WEIMIN SUN
Published in Human genetics (01.12.2005)
Published in Human genetics (01.12.2005)
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Validation and Clinical Application of a Locus-Specific Polymerase Chain Reaction- and Minisequencing-Based Assay for Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency)
Keen-Kim, Dianne, Redman, Joy B., Alanes, Reno U., Eachus, Michele M., Wilson, Robert C., New, Maria I., Nakamoto, Jon M., Fenwick, Raymond G.
Published in The Journal of molecular diagnostics : JMD (01.05.2005)
Published in The Journal of molecular diagnostics : JMD (01.05.2005)
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Journal Article
Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening
Hantash, Feras M., Redman, Joy B., Starn, Kelsey, Anderson, Ben, Buller, Arlene, McGinniss, Matthew J., Quan, Franklin, Peng, Mei, Sun, Weimin, Strom, Charles M.
Published in Human genetics (01.04.2006)
Published in Human genetics (01.04.2006)
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