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

  • "Response to Biesecker and Harrison." Genetics in Medicine  In: , Vol. 20, No. 12, 01.12.2018, p. 1689-1690.
  • "Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing : Points to consider-A statement of the American College of Medical Genetics and Genomics (ACMG)." Genetics in Medicine  In: , Vol. 20, No. 2, 01.02.2018, p. 169-171.
  • "Preconception Carrier Screening by Genome Sequencing : Results from the Clinical Laboratory." American Journal of Human Genetics  In: , 01.01.2018.
  • "Lessons learned from a study of genomics-based carrier screening for reproductive decision making." Health Affairs  In: , Vol. 37, No. 5, 01.01.2018, p. 809-816.
  • "A case for expanding carrier testing to include actionable X-linked disorders." Clinical Case Reports  In: , 01.01.2018.
  • "Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update : a technical standard of the American College of Medical Genetics and Genomics (ACMG)." Genetics in Medicine  In: , 01.01.2018.
  • "Approaches to carrier testing and results disclosure in translational genomics research : The clinical sequencing exploratory research consortium experience." Molecular Genetics and Genomic Medicine  In: , 01.01.2018.
  • "Secondary findings from clinical genomic sequencing : prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study." Genetics in Medicine  In: , 01.01.2018.
  • "Genome sequencing and carrier testing : Decisions on categorization and whether to disclose results of carrier testing." Genetics in Medicine  In: , Vol. 19, No. 7, 01.07.2017, p. 803-808.
  • "A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories." Genetics in Medicine  In: , Vol. 19, No. 5, 01.05.2017, p. 575-582.
  • "Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0) : A policy statement of the American College of Medical Genetics and Genomics." Genetics in Medicine  In: , Vol. 19, No. 2, 01.02.2017, p. 249-255.
  • "Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing." Contemporary Clinical Trials  In: , Vol. 53, 01.02.2017, p. 100-105.
  • "Results from an external proficiency testing program : 11 years of molecular genetics testing for myotonic dystrophy type 1." Genetics in Medicine  In: , Vol. 18, No. 12, 01.12.2016, p. 1290-1294.
  • "Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A." Genetics in Medicine  In: , Vol. 18, No. 9, 01.09.2016, p. 933-939.
  • "Erratum : Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716300593) (10.1016/j.ajhg.2016.03.024))." American Journal of Human Genetics  In: , Vol. 99, No. 1, 07.07.2016, p. 247.
  • "Erratum : Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))." American Journal of Human Genetics  In: , Vol. 99, No. 1, 07.07.2016, p. 246.
  • "Clinical Sequencing Exploratory Research Consortium : Accelerating Evidence-Based Practice of Genomic Medicine." American Journal of Human Genetics  In: , Vol. 98, No. 6, 02.06.2016, p. 1051-1066.
  • "Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium." American Journal of Human Genetics  In: , Vol. 98, No. 6, 02.06.2016, p. 1067-1076.
  • "Common inherited genetic disorders."   Nucleic Acid Testing for Human Disease. CRC Press, 2016. p. 373-411.
  • "Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing." American Journal of Medical Genetics, Part A  In: , Vol. 170, No. 3, 01.03.2016, p. 574-582.
  • "Generating a taxonomy for genetic conditions relevant to reproductive planning." American Journal of Medical Genetics, Part A  In: , Vol. 170, No. 3, 01.03.2016, p. 565-573.
  • "Response to Cederbaum." Genetics in Medicine  In: , Vol. 17, No. 12, 03.12.2015, p. 1013-1014.
  • "Standards and guidelines for the interpretation of sequence variants : A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology." Genetics in Medicine  In: , Vol. 17, No. 5, 08.05.2015, p. 405-424.
  • "Molecular genetic testing for cystic fibrosis : Laboratory performance on the College of American Pathologists external proficiency surveys." Genetics in Medicine  In: , Vol. 17, No. 3, 01.03.2015, p. 219-225.
  • "Actionable exomic incidental findings in 6503 participants : Challenges of variant classification." Genome Research  In: , Vol. 25, No. 3, 01.03.2015, p. 305-315.
  • "Does KRAS testing in metastatic colorectal cancer impact overall survival? A comparative effectiveness study in a population-based sample." PLoS One  In: , Vol. 9, No. 5, e94977, 01.05.2014.
  • "Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders." Genetics in Medicine  In: , Vol. 16, No. 1, 01.2014, p. 25-32.
  • "Recommendations from the EGAPP Working Group : Does PCA3 testing for the diagnosis and management of prostate cancer improve patient health outcomes?" Genetics in Medicine  In: , Vol. 16, No. 4, 2014, p. 338-346.
  • "Methods-based proficiency testing in molecular genetic pathology." Journal of Molecular Diagnostics  In: , Vol. 16, No. 3, 2014, p. 283-287.
  • "The EGAPP initiative : Lessons learned." Genetics in Medicine  In: , Vol. 16, No. 3, 2014, p. 217-224.

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