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Author Details

Carolyn Sue Richards
Oregon Health & Science University (OHSU)
1978
121
40
PMIDPaper TitleJournal TitlePublished Year
36932902Missense variant in RBM10 associated with mild and non-lethal form of TARP syndrome.Clin Genet2023
37506692Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon.Am J Hum Genet2023
37347242ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2023
34906498Artificial intelligence (AI)-assisted exome reanalysis greatly aids in the identification of new positive cases and reduces analysis time in a clinical diagnostic laboratory.Genet Med2022
35802134ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2022
35429647An Educational Assessment of Evidence Used for Variant Classification: A Report of the Association for Molecular Pathology.J Mol Diagn2022
34012068ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2021
34345026Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2021
34012069Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2021
32404922CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genet Med2020
30670880Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.Genet Med2019
30287922Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.Genet Med2019
29323668Professional 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).Genet Med2018
30133189Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.Mol Genet Genomic Med2018
30297698Venous 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).Genet Med2018
30455898A case for expanding carrier testing to include actionable X-linked disorders.Clin Case Rep2018
29754767Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.Am J Hum Genet2018
29543230Response to Biesecker and Harrison.Genet Med2018
29733724Lessons Learned From A Study Of Genomics-Based Carrier Screening For Reproductive Decision Making.Health Aff (Millwood)2018
27940182Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing.Contemp Clin Trials2017
28079899Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing.Genet Med2017
27854360Recommendations 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.Genet Med2017
27811861A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.Genet Med2017
26792268Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.Am J Med Genet A2016
27392081Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.Am J Hum Genet2016
27253733Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1.Genet Med2016
27181684Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.Am J Hum Genet2016
26889673Generating a taxonomy for genetic conditions relevant to reproductive planning.Am J Med Genet A2016
26820065Evidence for an association between infant mortality and homozygosity for the arctic variant of carnitine palmitoyltransferase 1A.Genet Med2016
25077647Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys.Genet Med2015
25637381Actionable exomic incidental findings in 6503 participants: challenges of variant classification.Genome Res2015
25741868Standards 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.Genet Med2015
23703682Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders.Genet Med2014
24788807Does KRAS testing in metastatic colorectal cancer impact overall survival? A comparative effectiveness study in a population-based sample.PLoS One2014
24650895Methods-based proficiency testing in molecular genetic pathology.J Mol Diagn2014
22955111Improving the efficiency and relevance of evidence-based recommendations in the era of whole-genome sequencing: an EGAPP methods update.Genet Med2013
23808472Current landscape and new paradigms of proficiency testing and external quality assessment for molecular genetics.Arch Pathol Lab Med2013
23348768ACMG Policy Statement. Risk categorization for oversight of laboratory-developed tests for inherited conditions.Genet Med2013
22237433Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey.Genet Med2012
22534075Reliability of KRAS mutation testing in metastatic colorectal cancer patients across five laboratories.BMC Res Notes2012
20843525Prevalence and distribution of the c.1436Câ¿¿T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infants.J Pediatr2011
21354051Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.J Mol Diagn2011
21480184Quality assurance and quality improvement in U.S. clinical molecular genetic laboratories.Curr Protoc Hum Genet2011
20960468How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.Hum Mutat2010
19306394Planning the human variome project: the Spain report.Hum Mutat2009
19367192Validation of Fanconi anemia complementation Group A assignment using molecular analysis.Genet Med2009
18165276Consensus characterization of 16 FMR1 reference materials: a consortium study.J Mol Diagn2008
18988827GENETICS. The Human Variome Project.Science2008
18496029New quality assurance standards for rare disease testing.Genet Med2008
18414213ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.Genet Med2008
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