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Cervical Ribs Are More Prevalent in Stillborn Fetuses than in Live-Born Infants and Are Strongly Associated with Fetal Aneuploidy.
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- Pediatric & Developmental Pathology, 2011, v. 14, n. 6, p. 431, doi. 10.2350/11-01-0974-OA.1
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- Article
Exploring relatives' perceptions of participation, ethics, and communication in a patient‐driven study for hereditary cancer variant reclassification.
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- Journal of Genetic Counseling, 2020, v. 29, n. 5, p. 857, doi. 10.1002/jgc4.1215
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- Article
Patient goals, motivations, and attitudes in a patient‐driven variant reclassification study.
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- Journal of Genetic Counseling, 2019, v. 28, n. 3, p. 558, doi. 10.1002/jgc4.1052
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- Article
Patients' perspectives of variants of uncertain significance and strategies for uncertainty management.
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- Journal of Genetic Counseling, 2019, v. 28, n. 2, p. 313, doi. 10.1002/jgc4.1075
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- Article
GENETICS AND GATHERING THE HOUSE OF ISRAEL.
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- Dialogue: A Journal of Mormon Thought, 2023, v. 56, n. 1, p. 127, doi. 10.5406/15549399.56.1.09
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- Article
Current chemoprevention approaches in Lynch syndrome and Familial adenomatous polyposis: a global clinical practice survey.
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- Frontiers in Oncology, 2023, p. 1, doi. 10.3389/fonc.2023.1141810
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- Article
Refining the structure and content of clinical genomic reports.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 1, p. 85, doi. 10.1002/ajmg.c.31395
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- Article
ConnectMyVariant: An Innovative Use of Technology and Social Networks to Realize the Benefits of Cascade Screening.
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- Public Health Genomics, 2023, v. 26, n. 1, p. 177, doi. 10.1159/000533971
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- Article
Factors Influencing Genetic Screening Enrollment among a Diverse, Community-Ascertained Cohort.
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- Public Health Genomics, 2023, v. 26, n. 1, p. 113, doi. 10.1159/000531989
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- Article
Diagnostic yield of genetic screening in a diverse, community-ascertained cohort.
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- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01174-7
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- Article
The FamilyTalk randomized controlled trial: patient-reported outcomes in clinical genetic sequencing for colorectal cancer.
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- 2021
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- Publication type:
- journal article
Rare loss of function variants in candidate genes and risk of colorectal cancer.
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- Human Genetics, 2018, v. 137, n. 10, p. 795, doi. 10.1007/s00439-018-1938-4
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- Article
Cell culture analysis of the regulatory frameshift event required for the expression of mammalian antizymes.
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- Genes to Cells, 2001, v. 6, n. 11, p. 931, doi. 10.1046/j.1365-2443.2001.00477.x
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- Article
Using Patients Like My Patient for Clinical Decision Support: Institution-Specific Probability of Celiac Disease Diagnosis Using Simplified Near-Neighbor Classification.
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- JGIM: Journal of General Internal Medicine, 2013, v. 28, n. 12, p. 1565, doi. 10.1007/s11606-013-2443-z
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- Article
Applying Ancestry and Sex Computation as a Quality Control Tool in Targeted Next-Generation Sequencing.
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- 2016
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- Publication type:
- journal article
Do we now know what inappropriate laboratory utilization is? An expanded systematic review of laboratory clinical audits.
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- 2014
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- Journal Article
Do We Now Know What Inappropriate Laboratory Utilization Is?
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- American Journal of Clinical Pathology, 2014, v. 141, n. 6, p. 774, doi. 10.1309/AJCPX1HIEM4KLGNU
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- Article
Pilot Study of Linking Web-Based Supplemental Interpretive Information to Laboratory Test Reports.
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- American Journal of Clinical Pathology, 2009, v. 132, n. 6, p. 818, doi. 10.1309/AJCPT7CHN8DLFVGU
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- Article
CSER and eMERGE: current and potential state of the display of genetic information in the electronic health record.
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- 2015
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- Publication type:
- journal article
A multicenter study of clinical impact of variant of uncertain significance reclassification in breast, ovarian and colorectal cancer susceptibility genes.
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- Cancer Medicine, 2023, v. 12, n. 3, p. 2875, doi. 10.1002/cam4.5202
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- Article
Effects of germline and somatic events in candidate BRCA-like genes on breast-tumor signatures.
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- PLoS ONE, 2020, v. 15, n. 9, p. 1, doi. 10.1371/journal.pone.0239197
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- Article
Partitioning Reference Intervals by Use of Genetic Information.
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- Clinical Chemistry, 2011, v. 57, n. 3, p. 475, doi. 10.1373/clinchem.2010.154005
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- Article
Assigning credit where it is due: an information content score to capture the clinical value of multiplexed assays of variant effect.
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- BMC Bioinformatics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s12859-024-05920-5
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- Article
Knowledge for Precision Medicine: Mechanistic Reasoning and Methodological Pluralism.
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- 2017
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- Publication type:
- journal article
Modified capture-recapture estimates of the number of families with Lynch syndrome in Central Ohio.
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- Familial Cancer, 2019, v. 18, n. 1, p. 67, doi. 10.1007/s10689-018-0096-0
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- Article
A comparison of cosegregation analysis methods for the clinical setting.
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- Familial Cancer, 2018, v. 17, n. 2, p. 295, doi. 10.1007/s10689-017-0017-7
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- Article
Multiplexing mutation rate assessment: determining pathogenicity of Msh2 variants in Saccharomyces cerevisiae.
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- Genetics, 2021, v. 218, n. 2, p. 1, doi. 10.1093/genetics/iyab058
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- Article
Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.
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- PLoS ONE, 2023, v. 17, n. 2, p. 1, doi. 10.1371/journal.pone.0278010
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- Article
Harmonizing variant classification for return of results in the All of Us Research Program.
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- Human Mutation, 2022, v. 43, n. 8, p. 1114, doi. 10.1002/humu.24317
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- Article
An algorithm for optimal testing in co‐segregation analysis.
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- Human Mutation, 2022, v. 43, n. 5, p. 547, doi. 10.1002/humu.24363
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- Article
Sequence specificity of aminoglycoside-induced stop codon readthrough: Potential implications for treatment of Duchenne muscular dystrophy.
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- Annals of Neurology, 2000, v. 48, n. 2, p. 164, doi. 10.1002/1531-8249(200008)48:2<164::AID-ANA5>3.0.CO;2-B
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- Article
A bayesian approach to laboratory utilization management.
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- Journal of Pathology Informatics, 2015, v. 6, n. 1, p. 52, doi. 10.4103/2153-3539.151921
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- Article
Clinical laboratory analytics: Challenges and promise for an emerging discipline.
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- Journal of Pathology Informatics, 2015, v. 6, n. 1, p. 46, doi. 10.4103/2153-3539.151919
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- Article
Laboratory informatics based evaluation of methylene tetrahydrofolate reductase C677T genetic test overutilization.
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- Journal of Pathology Informatics, 2013, v. 4, n. 1, p. 290, doi. 10.4103/2153-3539.122389
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- Article