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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2019 | 2 |
2022 | 1 |
2023 | 1 |
2024 | 1 |
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4 results
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Page 1
Functional and phenotypic consequences of an unusual inversion in MSH2.
Fam Cancer. 2024 Mar;23(1):1-7. doi: 10.1007/s10689-023-00350-3. Epub 2023 Nov 14.
Fam Cancer. 2024.
PMID: 37957483
A calibrated cell-based functional assay to aid classification of MLH1 DNA mismatch repair gene variants.
Rath A, Radecki AA, Rahman K, Gilmore RB, Hudson JR, Cenci M, Tavtigian SV, Grady JP, Heinen CD.
Rath A, et al.
Hum Mutat. 2022 Dec;43(12):2295-2307. doi: 10.1002/humu.24462. Epub 2022 Sep 12.
Hum Mutat. 2022.
PMID: 36054288
Free PMC article.
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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.
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Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cells.
Rath A, Mishra A, Ferreira VD, Hu C, Omerza G, Kelly K, Hesse A, Reddi HV, Grady JP, Heinen CD.
Rath A, et al.
Hum Mutat. 2019 Nov;40(11):2044-2056. doi: 10.1002/humu.23848. Epub 2019 Aug 17.
Hum Mutat. 2019.
PMID: 31237724
Free PMC article.
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