DEBORAH RITTER to Humans
This is a "connection" page, showing publications DEBORAH RITTER has written about Humans.
Connection Strength
0.214
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Experiences in providing a community educational resource for the All of Us Researcher Workbench. J Am Med Inform Assoc. 2024 12 01; 31(12):2952-2957.
Score: 0.024
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A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen). Cold Spring Harb Mol Case Stud. 2019 10; 5(5).
Score: 0.017
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Somatic cancer variant curation and harmonization through consensus minimum variant level data. Genome Med. 2016 11 04; 8(1):117.
Score: 0.014
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Identifying gene disruptions in novel balanced de novo constitutional translocations in childhood cancer patients by whole-genome sequencing. Genet Med. 2015 Oct; 17(10):831-5.
Score: 0.012
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Evaluating the consistency of SMARCB1 variant classification and assertions of genotype-phenotype relationships in ClinVar. Cancer Genet. 2025 Sep; 296-297:84-87.
Score: 0.006
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Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource. Am J Hum Genet. 2025 Feb 06; 112(2):215-223.
Score: 0.006
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Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS. Am J Hum Genet. 2024 Nov 07; 111(11):2427-2443.
Score: 0.006
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Macrocephaly and developmental delay caused by missense variants in RAB5C. Hum Mol Genet. 2023 10 17; 32(21):3063-3077.
Score: 0.006
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Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel. Genet Med. 2024 02; 26(2):100992.
Score: 0.006
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Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation. Hum Mutat. 2023; 2023.
Score: 0.005
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CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase. Nucleic Acids Res. 2023 01 06; 51(D1):D1230-D1241.
Score: 0.005
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Developing a disease-specific annotation protocol for VHL gene curation using Hypothes.is. Database (Oxford). 2023 01 06; 2023.
Score: 0.005
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A community approach to the cancer-variant-interpretation bottleneck. Nat Cancer. 2022 05; 3(5):522-525.
Score: 0.005
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Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions. Cancer Genet. 2022 06; 264-265:50-59.
Score: 0.005
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Evolution of germline TP53 variant classification in children with cancer. Cancer Genet. 2022 06; 264-265:29-32.
Score: 0.005
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Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC). Genet Med. 2022 05; 24(5):986-998.
Score: 0.005
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ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines. Genome Med. 2022 01 18; 14(1):6.
Score: 0.005
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Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures. Am J Hum Genet. 2020 07 02; 107(1):72-82.
Score: 0.004
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Response to Maya et al. Genet Med. 2020 07; 22(7):1278-1279.
Score: 0.004
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A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer. Nat Genet. 2020 04; 52(4):448-457.
Score: 0.004
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Evaluation of the Impact of the Wound Treatment Associate (WTA) Education Program on Practice and Quality Patient Outcomes. J Wound Ostomy Continence Nurs. 2020 Jan/Feb; 47(1):13-19.
Score: 0.004
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Standard operating procedure for curation and clinical interpretation of variants in cancer. Genome Med. 2019 11 29; 11(1):76.
Score: 0.004
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Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties. Genet Med. 2020 04; 22(4):785-792.
Score: 0.004
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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 02; 22(2):245-257.
Score: 0.004
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Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework. Genet Med. 2019 07; 21(7):1507-1516.
Score: 0.004
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Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels. Genet Med. 2019 07; 21(7):1497-1506.
Score: 0.004
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Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes. Hum Mutat. 2018 11; 39(11):1542-1552.
Score: 0.004
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Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards. Hum Mutat. 2018 11; 39(11):1721-1732.
Score: 0.004
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The clinical imperative for inclusivity: Race, ethnicity, and ancestry (REA) in genomics. Hum Mutat. 2018 11; 39(11):1713-1720.
Score: 0.004
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Pathogenic Germline Variants in 10,389 Adult Cancers. Cell. 2018 04 05; 173(2):355-370.e14.
Score: 0.004
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ClinGen Cancer Somatic Working Group - standardizing and democratizing access to cancer molecular diagnostic data to drive translational research. Pac Symp Biocomput. 2018; 23:247-258.
Score: 0.004
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Viral oncoprotein antibodies as a marker for recurrence of Merkel cell carcinoma: A prospective validation study. Cancer. 2017 04 15; 123(8):1464-1474.
Score: 0.003
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Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. J Clin Invest. 2016 08 01; 126(8):2881-92.
Score: 0.003
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Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs. Pharmacogenet Genomics. 2016 06; 26(6):271-9.
Score: 0.003
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Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics. 2015 Apr 11; 16:286.
Score: 0.003
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A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet. 2013 Oct; 45(10):1226-1231.
Score: 0.003
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cneViewer: a database of conserved non-coding elements for studies of tissue-specific gene regulation. Bioinformatics. 2008 Oct 15; 24(20):2418-9.
Score: 0.002