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Items: 1 to 20 of 30

1.

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.

2.

Functional Complementation Assay for 47 MUTYH Variants in a MutY-Disrupted Escherichia coli Strain.

Komine K, Shimodaira H, Takao M, Soeda H, Zhang X, Takahashi M, Ishioka C.

Hum Mutat. 2015 Jul;36(7):704-11. doi: 10.1002/humu.22794.

3.

Cmr1/WDR76 defines a nuclear genotoxic stress body linking genome integrity and protein quality control.

Gallina I, Colding C, Henriksen P, Beli P, Nakamura K, Offman J, Mathiasen DP, Silva S, Hoffmann E, Groth A, Choudhary C, Lisby M.

Nat Commun. 2015 Mar 30;6:6533. doi: 10.1038/ncomms7533.

4.

Human mismatch repair protein hMutLα is required to repair short slipped-DNAs of trinucleotide repeats.

Panigrahi GB, Slean MM, Simard JP, Pearson CE.

J Biol Chem. 2012 Dec 7;287(50):41844-50. doi: 10.1074/jbc.M112.420398. Epub 2012 Oct 18.

5.

Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays.

Heinen CD, Juel Rasmussen L.

Hered Cancer Clin Pract. 2012 Jul 23;10(1):9. doi: 10.1186/1897-4287-10-9.

6.

Functional analyses of human DNA repair proteins important for aging and genomic stability using yeast genetics.

Aggarwal M, Brosh RM Jr.

DNA Repair (Amst). 2012 Apr 1;11(4):335-48. doi: 10.1016/j.dnarep.2012.01.013. Epub 2012 Feb 18. Review.

7.

A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.

Perera S, Li B, Tsitsikotas S, Ramyar L, Pollett A, Semotiuk K, Bapat B.

J Mol Diagn. 2010 Nov;12(6):757-64. doi: 10.2353/jmoldx.2010.090240. Epub 2010 Sep 23.

8.

Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.

Kosinski J, Hinrichsen I, Bujnicki JM, Friedhoff P, Plotz G.

Hum Mutat. 2010 Aug;31(8):975-82. doi: 10.1002/humu.21301.

9.

Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.

Martinez SL, Kolodner RD.

Proc Natl Acad Sci U S A. 2010 Mar 16;107(11):5070-5. doi: 10.1073/pnas.1000798107. Epub 2010 Feb 22.

10.

Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2 genes in yeast.

Vogelsang M, Comino A, Zupanec N, Hudler P, Komel R.

BMC Cancer. 2009 Oct 28;9:382. doi: 10.1186/1471-2407-9-382.

11.

Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families.

Heinen CD.

Mutat Res. 2010 Nov 10;693(1-2):32-45. doi: 10.1016/j.mrfmmm.2009.09.004. Epub 2009 Sep 17. Review.

12.

Unusual presentation of Lynch Syndrome.

Yu VP, Novelli M, Payne SJ, Fisher S, Barnetson RA, Frayling IM, Barrett A, Goudie D, Ardern-Jones A, Eeles R, Shanley S.

Hered Cancer Clin Pract. 2009 Jun 3;7(1):12. doi: 10.1186/1897-4287-7-12.

13.

The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome.

Clyne M, Offman J, Shanley S, Virgo JD, Radulovic M, Wang Y, Ardern-Jones A, Eeles R, Hoffmann E, Yu VP.

Br J Cancer. 2009 Jan 27;100(2):376-80. doi: 10.1038/sj.bjc.6604860. Epub 2009 Jan 13.

14.

The interplay between hMLH1 and hMRE11: role in MMR and the effect of hMLH1 mutations.

Zhao N, Zhu F, Yuan F, Haick AK, Fukushige S, Gu L, Her C.

Biochem Biophys Res Commun. 2008 May 30;370(2):338-43. doi: 10.1016/j.bbrc.2008.03.082. Epub 2008 Mar 26.

15.

Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.

Gammie AE, Erdeniz N, Beaver J, Devlin B, Nanji A, Rose MD.

Genetics. 2007 Oct;177(2):707-21. Epub 2007 Aug 24.

16.

Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas.

Fearnhead NS, Wilding JL, Winney B, Tonks S, Bartlett S, Bicknell DC, Tomlinson IP, Mortensen NJ, Bodmer WF.

Proc Natl Acad Sci U S A. 2004 Nov 9;101(45):15992-7. Epub 2004 Nov 1.

17.

Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.

Ellison AR, Lofing J, Bitter GA.

Nucleic Acids Res. 2004 Oct 8;32(18):5321-38. Print 2004.

18.

Reconstructed beta-catenin/TCF4 signaling in yeast applicable to functional evaluation of APC mutations.

Yamada H, Furuuchi K, Aoyama T, Kataoka A, Hamada J, Tada M, Okushiba S, Kondo S, Moriuchi T, Katoh H.

Am J Pathol. 2003 Dec;163(6):2201-9.

19.
20.

Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.

Wagner A, Barrows A, Wijnen JT, van der Klift H, Franken PF, Verkuijlen P, Nakagawa H, Geugien M, Jaghmohan-Changur S, Breukel C, Meijers-Heijboer H, Morreau H, van Puijenbroek M, Burn J, Coronel S, Kinarski Y, Okimoto R, Watson P, Lynch JF, de la Chapelle A, Lynch HT, Fodde R.

Am J Hum Genet. 2003 May;72(5):1088-100. Epub 2003 Mar 25.

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