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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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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
Genome Med. 2019 Dec 31;12(1):3. doi: 10.1186/s13073-019-0690-2.
Genome Med. 2019.
PMID: 31892348
Free PMC article.
Functional and phenotypic consequences of an unusual inversion in MSH2.
Pelletier D, Rath A, Sabbaghian N, Pelmus M, Hudon C, Jacob K, Witowski L, Saskin A, Heinen CD, Foulkes WD.
Pelletier D, et al.
Fam Cancer. 2024 Mar;23(1):1-7. doi: 10.1007/s10689-023-00350-3. Epub 2023 Nov 14.
Fam Cancer. 2024.
PMID: 37957483
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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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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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