Photo of Carolyn Sue Richards, Ph.D.

Carolyn Sue Richards Ph.D.

    • Professor of Molecular and Medical Genetics School of Medicine

Publications

  • "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.
  • "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.
  • "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.
  • "Recommendations from the EGAPP Working Group : Does genomic profiling to assess type 2 diabetes risk improve health outcomes?" Genetics in Medicine In: , Vol. 15, No. 8, 08.2013, p. 612-617.
  • "Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics." Archives of Pathology and Laboratory Medicine  In: , Vol. 137, No. 7, 07.2013, p. 983-988.
  • "Recommendations from the EGAPP Working Group : Can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy?" Genetics in Medicine In: , Vol. 15, No. 7, 07.2013, p. 517-527.
  • "Identification of the CFTR p.Phe508Del founder mutation in the absence of a polythymidine 9T allele in a Hispanic patient." Clinical Genetics In: , Vol. 83, No. 6, 06.2013, p. 598-599.
  • "Risk categorization for oversight of laboratory-developed tests for inherited conditions." Genetics in Medicine In: , Vol. 15, No. 4, 04.2013, p. 314-315.
  • "Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing : An EGAPP methods update." Genetics in Medicine  In: , Vol. 15, No. 1, 01.2013, p. 14-24.
  • "Reliability of KRAS mutation testing in metastatic colorectal cancer patients across five laboratories." BMC Research Notes  In: , Vol. 5, 196, 2012.
  • "Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey." Genetics in Medicine  In: , Vol. 14, No. 1, 2012, p. 69-75.
  • "Quality assurance and quality improvement in U.S. clinical molecular genetic laboratories." Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.]  In: , Vol. Chapter 9, 04.2011.
  • "Quality assurance and quality improvement in U.S. clinical molecular genetic laboratories." Current Protocols in Human Genetics  In: , No. SUPPL.69, 9.2, 04.2011.

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