| scholarly article | Q13442814 |
| P356 | DOI | 10.1002/HUMU.23848 |
| P698 | PubMed publication ID | 31237724 |
| P50 | author | Christopher D Heinen | Q87636719 |
| P2093 | author name string | Honey V Reddi | |
| Gregory Omerza | |||
| Kevin Kelly | |||
| Abhijit Rath | |||
| James P Grady | |||
| Akriti Mishra | |||
| Andrew Hesse | |||
| Chaoran Hu | |||
| Victoria Duque Ferreira | |||
| P2860 | cites work | The Elements of Statistical Learning | Q22670878 |
| The interaction of DNA mismatch repair proteins with human exonuclease I | Q24291370 | ||
| RNA-guided human genome engineering via Cas9 | Q24598394 | ||
| Microsatellite instability in colorectal cancer | Q24627393 | ||
| Mismatch repair deficiency associated with overexpression of the MSH3 gene | Q24681589 | ||
| Analysis of protein-coding genetic variation in 60,706 humans | Q26831376 | ||
| Structure of the human MutSalpha DNA lesion recognition complex | Q27644980 | ||
| Postreplicative mismatch repair | Q27690911 | ||
| A method and server for predicting damaging missense mutations | Q27860835 | ||
| An Msh2 point mutation uncouples DNA mismatch repair and apoptosis | Q28512999 | ||
| DNA targeting specificity of RNA-guided Cas9 nucleases | Q29615793 | ||
| Genetic screens in human cells using the CRISPR-Cas9 system | Q29617411 | ||
| Genome-wide analysis reveals characteristics of off-target sites bound by the Cas9 endonuclease. | Q30458169 | ||
| Transient mismatch repair gene transfection for functional analysis of genetic hMLH1 and hMSH2 variants | Q33184847 | ||
| An optimized pentaplex PCR for detecting DNA mismatch repair-deficient colorectal cancers | Q33535820 | ||
| Eukaryotic Mismatch Repair in Relation to DNA Replication | Q33711830 | ||
| Comparison of non-canonical PAMs for CRISPR/Cas9-mediated DNA cleavage in human cells | Q33791002 | ||
| Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing. | Q33849553 | ||
| Genome-wide binding of the CRISPR endonuclease Cas9 in mammalian cells | Q34093413 | ||
| Human pluripotent stem cells have a novel mismatch repair-dependent damage response | Q34107260 | ||
| Lynch syndrome-associated mutations in MSH2 alter DNA repair and checkpoint response functions in vivo | Q34164054 | ||
| Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology | Q34465792 | ||
| Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database | Q34961153 | ||
| DNA repair and tumorigenesis: lessons from hereditary cancer syndromes | Q35032229 | ||
| Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions | Q35053897 | ||
| Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms | Q35053925 | ||
| Predicting the functional impact of protein mutations: application to cancer genomics | Q35224321 | ||
| Enhanced homology-directed human genome engineering by controlled timing of CRISPR/Cas9 delivery | Q35247829 | ||
| Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing | Q35594437 | ||
| Mismatch repair and DNA damage signalling | Q35848516 | ||
| Biochemical analysis of the human mismatch repair proteins hMutSα MSH2(G674A)-MSH6 and MSH2-MSH6(T1219D) | Q35880032 | ||
| MSIseq: Software for Assessing Microsatellite Instability from Catalogs of Somatic Mutations | Q35996745 | ||
| Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. | Q36083305 | ||
| Mismatch repair defects and Lynch syndrome: The role of the basic scientist in the battle against cancer | Q36540568 | ||
| DNA mismatch repair and the DNA damage response | Q36540658 | ||
| Extensive molecular screening for hereditary non-polyposis colorectal cancer | Q36641429 | ||
| Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants | Q36821500 | ||
| Optimization of scarless human stem cell genome editing | Q37236715 | ||
| Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers. | Q38361824 | ||
| Whole-genome sequencing analysis reveals high specificity of CRISPR/Cas9 and TALEN-based genome editing in human iPSCs | Q38977941 | ||
| Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. | Q39389539 | ||
| Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays | Q39581441 | ||
| MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system | Q39941626 | ||
| Functional analysis of HNPCC-related missense mutations in MSH2. | Q42807963 | ||
| Milestones of Lynch syndrome: 1895-2015. | Q43864989 | ||
| The InSiGHT database: utilizing 100 years of insights into Lynch syndrome. | Q43907143 | ||
| Mechanisms of pathogenicity in human MSH2 missense mutants. | Q43919200 | ||
| HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions | Q44068446 | ||
| Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). | Q44498341 | ||
| Variant Interpretation: Functional Assays to the Rescue. | Q45945774 | ||
| Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification. | Q46602231 | ||
| ATR-Chk1 activation mitigates replication stress caused by mismatch repair-dependent processing of DNA damage. | Q48147633 | ||
| Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients. | Q50549930 | ||
| Evolved Cas9 variants with broad PAM compatibility and high DNA specificity. | Q52430644 | ||
| Temozolomide increases the number of mismatch repair-deficient intestinal crypts and accelerates tumorigenesis in a mouse model of Lynch syndrome. | Q53029911 | ||
| A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. | Q54338096 | ||
| Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary non-polyposis colorectal cancer | Q56590792 | ||
| Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer | Q57569926 | ||
| Analysis of mismatch repair genes in hereditary non–polyposis colorectal cancer patients | Q57570041 | ||
| Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks | Q57785071 | ||
| Accurate classification of BRCA1 variants with saturation genome editing | Q59068795 | ||
| Evaluation of the replication error phenotype in relation to molecular and clinicopathological features in hereditary and early onset colorectal cancer | Q61196038 | ||
| Dual role of LOH at MMR loci in hereditary non-polyposis colorectal cancer? | Q61917239 | ||
| Integrated analysis of unclassified variants in mismatch repair genes | Q63884145 | ||
| Chromosomal instability, reproductive cell death and apoptosis induced by O6-methylguanine in Mex-, Mex+ and methylation-tolerant mismatch repair compromised cells: facts and models | Q74063639 | ||
| Mismatch repair gene mutations in Chinese HNPCC patients | Q79641308 | ||
| Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia | Q81923015 | ||
| Characterization of MSH2 variants by endogenous gene modification in mouse embryonic stem cells | Q83394008 | ||
| P433 | issue | 11 | |
| P921 | main subject | CRISPR | Q412563 |
| Cas9 | Q16965677 | ||
| CRISPR-Cas method | Q17310682 | ||
| human embryonic stem cell | Q59626782 | ||
| P304 | page(s) | 2044-2056 | |
| P577 | publication date | 2019-08-17 | |
| P1433 | published in | Human Mutation | Q5937269 |
| P1476 | title | Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cells | |
| P478 | volume | 40 |
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