Photo of Carolyn Sue Richards, Ph.D.

Carolyn Sue Richards Ph.D.

    • Professor of Molecular and Medical Genetics School of Medicine
    • Program in Molecular and Cellular Biosciences School of Medicine

Publications

  • "Recommendations from the EGAPP Working Group" Genetics in Medicine  2014
  • "In situ hybridization shows direct evidence of skewed X inactivation in one of monozygotic twin females manifesting Duchenne muscular dystrophy" American Journal of Medical Genetics, Part A  1993
  • "Prenatal screening for cystic fibrosis" Expert Review of Molecular Diagnostics January 2004
  • "Non-specific X linked mental retardation with aphasia exhibiting genetic linkage to chromosomal region Xp11" Journal of Medical Genetics  1992
  • "A homozygous mutation in MSH6 causes Turcot syndrome" Clinical Cancer Research July 1 2005
  • "Estimated analytic validity of HFE C282Y mutation testing in population screening" Genetics in Medicine November 2003
  • "Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol" Genetic Testing and Molecular Biomarkers  2002
  • "Southern analysis for detection of CAG repeat expansions associated with dentatorubral pallidoluysian atrophy" Human Genetics March 1997
  • "ACMG recommendations for standards for interpretation and reporting of sequence variations" Genetics in Medicine April 2008
  • "Relative stability of a minimal CTG repeat expansion in a large kindred with myotonic dystrophy" Neurology May 1998
  • "Ashkenazi jewish population frequencies for common mutations in BRCA1 and BRCA2" Nature Genetics  1996
  • "Dystrophin and DNA diagnosis in a large pediatric muscle clinic" Journal of Child Neurology  1994
  • "Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma" Journal of Clinical Endocrinology and Metabolism  1996
  • "Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6" Journal of Molecular Diagnostics October 2005
  • "Detection of sequence variations in the adenomatous polyposis coli (APC) gene using denaturing high-performance liquid chromatography" Genetic Testing and Molecular Biomarkers  2001
  • "Methods-based proficiency testing in molecular genetic pathology" Journal of Molecular Diagnostics  2014
  • "Recommendations of the 2006 Human Variome Project meeting" Nature Genetics April 2007
  • "Alternative approaches to proficiency testing in molecular genetics" Clinical Chemistry May 1 2003
  • "A comparative study of five technologically diverse CFTR testing platforms" Journal of Molecular Diagnostics July 2007
  • "Gene symbol" Human Genetics July 2006
  • "Laboratory standards and guidelines for population-based cystic fibrosis carrier screening" Genetics in Medicine  2001
  • "Deletion detection in the dystrophin gene by multiplex gap ligase chain reaction and immunochromatographic strip technology" Human Mutation  1995
  • "Genetic test evaluation" American Journal of Epidemiology August 15 2002
  • "The effect of insulin and glucose on fructose-2,6-P2 in hepatocytes" Biochemical and Biophysical Research Communications November 30 1982
  • "Reliability of KRAS mutation testing in metastatic colorectal cancer patients across five laboratories" BMC Research Notes  2012
  • "Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma [2]" Journal of Medical Genetics  2001
  • "Technical standards and guidelines for fragile X" Genetics in Medicine  2001
  • "DMD-specific FISH probes are diagnostically useful in the detection of female carriers of DMD gene deletions" Neurology June 1997
  • "Risk categorization for oversight of laboratory-developed tests for inherited conditions" Genetics in Medicine April 2013
  • "Molecular definition of a mitochondrially encoded mouse minor histocompatibility antigen" Cold Spring Harbor Symposia on Quantitative Biology  1989

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