Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2018 | 2 |
2019 | 2 |
2020 | 1 |
2023 | 1 |
2024 | 0 |
Search Results
6 results
Results by year
Filters applied: . Clear all
Page 1
Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists.
Eur J Hum Genet. 2023 Oct;31(10):1165-1174. doi: 10.1038/s41431-023-01401-0. Epub 2023 Jun 12.
Eur J Hum Genet. 2023.
PMID: 37308598
Ancestry-specific predisposing germline variants in cancer.
Oak N, Cherniack AD, Mashl RJ; TCGA Analysis Network; Hirsch FR, Ding L, Beroukhim R, Gümüş ZH, Plon SE, Huang KL.
Oak N, et al.
Genome Med. 2020 May 29;12(1):51. doi: 10.1186/s13073-020-00744-3.
Genome Med. 2020.
PMID: 32471518
Free PMC article.
Item in Clipboard
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
Brnich SE, Abou Tayoun AN, Couch FJ, Cutting GR, Greenblatt MS, Heinen CD, Kanavy DM, Luo X, McNulty SM, Starita LM, Tavtigian SV, Wright MW, Harrison SM, Biesecker LG, Berg JS; Clinical Genome Resource Sequence Variant Interpretation Working Group.
Brnich SE, et al.
Genome Med. 2019 Dec 31;12(1):3. doi: 10.1186/s13073-019-0690-2.
Genome Med. 2019.
PMID: 31892348
Free PMC article.
Item in Clipboard
A genetic counseling needs assessment of Mexico.
Bucio D, Ormond KE, Hernandez D, Bustamante CD, Lopez Pineda A.
Bucio D, et al.
Mol Genet Genomic Med. 2019 May;7(5):e668. doi: 10.1002/mgg3.668. Epub 2019 Apr 1.
Mol Genet Genomic Med. 2019.
PMID: 30938092
Free PMC article.
Item in Clipboard
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
Zastrow DB, Baudet H, Shen W, Thomas A, Si Y, Weaver MA, Lager AM, Liu J, Mangels R, Dwight SS, Wright MW, Dobrowolski SF, Eilbeck K, Enns GM, Feigenbaum A, Lichter-Konecki U, Lyon E, Pasquali M, Watson M, Blau N, Steiner RD, Craigen WJ, Mao R; ClinGen Inborn Errors of Metabolism Working Group.
Zastrow DB, et al.
Hum Mutat. 2018 Nov;39(11):1569-1580. doi: 10.1002/humu.23649.
Hum Mutat. 2018.
PMID: 30311390
Free PMC article.
Item in Clipboard
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Rivera-Muñoz EA, Milko LV, Harrison SM, Azzariti DR, Kurtz CL, Lee K, Mester JL, Weaver MA, Currey E, Craigen W, Eng C, Funke B, Hegde M, Hershberger RE, Mao R, Steiner RD, Vincent LM, Martin CL, Plon SE, Ramos E, Rehm HL, Watson M, Berg JS.
Rivera-Muñoz EA, et al.
Hum Mutat. 2018 Nov;39(11):1614-1622. doi: 10.1002/humu.23645.
Hum Mutat. 2018.
PMID: 30311389
Free PMC article.
Item in Clipboard
Cite
Cite