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New Human Chromosomal Sites with "Safe Harbor" Potential for Targeted Transgene Insertion.

Pellenz S, Phelps M, Tang W, Hovde BT, Sinit RB, Fu W, Li H, Chen E, Monnat RJ Jr.

Hum Gene Ther. 2019 Jul;30(7):814-828. doi: 10.1089/hum.2018.169. Epub 2019 Mar 28.


An RNAi screen in human cell lines reveals conserved DNA damage repair pathways that mitigate formaldehyde sensitivity.

Juarez E, Chambwe N, Tang W, Mitchell AD, Owen N, Kumari A, Monnat RJ Jr, McCullough AK.

DNA Repair (Amst). 2018 Dec;72:1-9. doi: 10.1016/j.dnarep.2018.10.002. Epub 2018 Oct 9.


Genomic and Molecular Landscape of DNA Damage Repair Deficiency across The Cancer Genome Atlas.

Knijnenburg TA, Wang L, Zimmermann MT, Chambwe N, Gao GF, Cherniack AD, Fan H, Shen H, Way GP, Greene CS, Liu Y, Akbani R, Feng B, Donehower LA, Miller C, Shen Y, Karimi M, Chen H, Kim P, Jia P, Shinbrot E, Zhang S, Liu J, Hu H, Bailey MH, Yau C, Wolf D, Zhao Z, Weinstein JN, Li L, Ding L, Mills GB, Laird PW, Wheeler DA, Shmulevich I; Cancer Genome Atlas Research Network, Monnat RJ Jr, Xiao Y, Wang C.

Cell Rep. 2018 Apr 3;23(1):239-254.e6. doi: 10.1016/j.celrep.2018.03.076.


Werner syndrome (WRN) gene variants and their association with altered function and age-associated diseases.

Lebel M, Monnat RJ Jr.

Ageing Res Rev. 2018 Jan;41:82-97. doi: 10.1016/j.arr.2017.11.003. Epub 2017 Nov 14. Review.


Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype.

Kamath-Loeb AS, Zavala-van Rankin DG, Flores-Morales J, Emond MJ, Sidorova JM, Carnevale A, Cárdenas-Cortés MD, Norwood TH, Monnat RJ, Loeb LA, Mercado-Celis GE.

Sci Rep. 2017 Mar 9;7:44081. doi: 10.1038/srep44081.


Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" Diseases.

Fu W, Ligabue A, Rogers KJ, Akey JM, Monnat RJ Jr.

Hum Mutat. 2017 Feb;38(2):193-203. doi: 10.1002/humu.23148. Epub 2016 Dec 9.


Metformin improves defective hematopoiesis and delays tumor formation in Fanconi anemia mice.

Zhang QS, Tang W, Deater M, Phan N, Marcogliese AN, Li H, Al-Dhalimy M, Major A, Olson S, Monnat RJ Jr, Grompe M.

Blood. 2016 Dec 15;128(24):2774-2784. Epub 2016 Oct 18.


Werner syndrome through the lens of tissue and tumour genomics.

Tokita M, Kennedy SR, Risques RA, Chun SG, Pritchard C, Oshima J, Liu Y, Bryant-Greenwood PK, Welcsh P, Monnat RJ.

Sci Rep. 2016 Aug 25;6:32038. doi: 10.1038/srep32038.


Microwell arrays reveal cellular heterogeneity during the clonal expansion of transformed human cells.

Chang TC, Tang W, Koh WJ, Rettie AJ, Emond MJ, Monnat RJ Jr, Folch A.

Technology (Singap World Sci). 2015 Dec;3(4):163-171.


WRN Promoter CpG Island Hypermethylation Does Not Predict More Favorable Outcomes for Patients with Metastatic Colorectal Cancer Treated with Irinotecan-Based Therapy.

Bosch LJ, Luo Y, Lao VV, Snaebjornsson P, Trooskens G, Vlassenbroeck I, Mongera S, Tang W, Welcsh P, Herman JG, Koopman M, Nagtegaal ID, Punt CJ, van Criekinge W, Meijer GA, Monnat RJ Jr, Carvalho B, Grady WM.

Clin Cancer Res. 2016 Sep 15;22(18):4612-22. doi: 10.1158/1078-0432.CCR-15-2703. Epub 2016 Apr 27.


Werner syndrome: Clinical features, pathogenesis and potential therapeutic interventions.

Oshima J, Sidorova JM, Monnat RJ Jr.

Ageing Res Rev. 2017 Jan;33:105-114. doi: 10.1016/j.arr.2016.03.002. Epub 2016 Mar 15. Review.


The Werner syndrome RECQ helicase targets G4 DNA in human cells to modulate transcription.

Tang W, Robles AI, Beyer RP, Gray LT, Nguyen GH, Oshima J, Maizels N, Harris CC, Monnat RJ Jr.

Hum Mol Genet. 2016 May 15;25(10):2060-2069. Epub 2016 Mar 16.


Development of a Whole Blood Paper-Based Device for Phenylalanine Detection in the Context of PKU Therapy Monitoring.

Robinson R, Wong L, Monnat RJ, Fu E.

Micromachines (Basel). 2016 Feb 15;7(2). pii: E28. doi: 10.3390/mi7020028.


Genome Sequence and Transcriptome Analyses of Chrysochromulina tobin: Metabolic Tools for Enhanced Algal Fitness in the Prominent Order Prymnesiales (Haptophyceae).

Hovde BT, Deodato CR, Hunsperger HM, Ryken SA, Yost W, Jha RK, Patterson J, Monnat RJ Jr, Barlow SB, Starkenburg SR, Cattolico RA.

PLoS Genet. 2015 Sep 23;11(9):e1005469. doi: 10.1371/journal.pgen.1005469. eCollection 2015.


"...Rewritten in the skin": clues to skin biology and aging from inherited disease.

Monnat RJ Jr.

J Invest Dermatol. 2015 Jun;135(6):1484-1490. doi: 10.1038/jid.2015.88. Epub 2015 Mar 26. Review.


Conversion of a laboratory-based test for phenylalanine detection to a simple paper-based format and implications for PKU screening in low-resource settings.

Thiessen G, Robinson R, De Los Reyes K, Monnat RJ Jr, Fu E.

Analyst. 2015 Jan 21;140(2):609-15. doi: 10.1039/c4an01627k.


MRE11-deficiency associated with improved long-term disease free survival and overall survival in a subset of stage III colon cancer patients in randomized CALGB 89803 trial.

Pavelitz T, Renfro L, Foster NR, Caracol A, Welsch P, Lao VV, Grady WB, Niedzwiecki D, Saltz LB, Bertagnolli MM, Goldberg RM, Rabinovitch PS, Emond M, Monnat RJ Jr, Maizels N.

PLoS One. 2014 Oct 13;9(10):e108483. doi: 10.1371/journal.pone.0108483. eCollection 2014.


Parallel microfluidic chemosensitivity testing on individual slice cultures.

Chang TC, Mikheev AM, Huynh W, Monnat RJ, Rostomily RC, Folch A.

Lab Chip. 2014 Dec 7;14(23):4540-51. doi: 10.1039/c4lc00642a. Epub 2014 Oct 2.


Global and disease-associated genetic variation in the human Fanconi anemia gene family.

Rogers KJ, Fu W, Akey JM, Monnat RJ Jr.

Hum Mol Genet. 2014 Dec 20;23(25):6815-25. doi: 10.1093/hmg/ddu400. Epub 2014 Aug 7.


The mitochondrial and chloroplast genomes of the haptophyte Chrysochromulina tobin contain unique repeat structures and gene profiles.

Hovde BT, Starkenburg SR, Hunsperger HM, Mercer LD, Deodato CR, Jha RK, Chertkov O, Monnat RJ Jr, Cattolico RA.

BMC Genomics. 2014 Jul 17;15:604. doi: 10.1186/1471-2164-15-604.


Regulation of gene expression by the BLM helicase correlates with the presence of G-quadruplex DNA motifs.

Nguyen GH, Tang W, Robles AI, Beyer RP, Gray LT, Welsh JA, Schetter AJ, Kumamoto K, Wang XW, Hickson ID, Maizels N, Monnat RJ Jr, Harris CC.

Proc Natl Acad Sci U S A. 2014 Jul 8;111(27):9905-10. doi: 10.1073/pnas.1404807111. Epub 2014 Jun 23.


CpG island methylator phenotype is associated with response to adjuvant irinotecan-based therapy for stage III colon cancer.

Shiovitz S, Bertagnolli MM, Renfro LA, Nam E, Foster NR, Dzieciatkowski S, Luo Y, Lao VV, Monnat RJ Jr, Emond MJ, Maizels N, Niedzwiecki D, Goldberg RM, Saltz LB, Venook A, Warren RS, Grady WM; Alliance for Clinical Trials in Oncology.

Gastroenterology. 2014 Sep;147(3):637-45. doi: 10.1053/j.gastro.2014.05.009. Epub 2014 May 21.


Identification and analysis of genomic homing endonuclease target sites.

Pellenz S, Monnat RJ Jr.

Methods Mol Biol. 2014;1123:245-64. doi: 10.1007/978-1-62703-968-0_16.


Quantifying the information content of homing endonuclease target sites by single base pair profiling.

Friedman JI, Li H, Monnat RJ Jr.

Methods Mol Biol. 2014;1123:135-49. doi: 10.1007/978-1-62703-968-0_11.


Altered RECQ Helicase Expression in Sporadic Primary Colorectal Cancers.

Lao VV, Welcsh P, Luo Y, Carter KT, Dzieciatkowski S, Dintzis S, Meza J, Sarvetnick NE, Monnat RJ Jr, Loeb LA, Grady WM.

Transl Oncol. 2013 Aug 1;6(4):458-69. Print 2013 Aug.


Rapid assessment of RNAi-mediated protein depletion by selected reaction monitoring mass spectrometry.

Glukhova VA, Tomazela DM, Findlay GD, Monnat RJ Jr, MacCoss MJ.

J Proteome Res. 2013 Jul 5;12(7):3246-54. doi: 10.1021/pr400067k. Epub 2013 Jun 10.


PARP-mediated repair, homologous recombination, and back-up non-homologous end joining-like repair of single-strand nicks.

Metzger MJ, Stoddard BL, Monnat RJ Jr.

DNA Repair (Amst). 2013 Jul;12(7):529-34. doi: 10.1016/j.dnarep.2013.04.004. Epub 2013 May 16.


Essential role for Cdk2 inhibitory phosphorylation during replication stress revealed by a human Cdk2 knockin mutation.

Hughes BT, Sidorova J, Swanger J, Monnat RJ Jr, Clurman BE.

Proc Natl Acad Sci U S A. 2013 May 28;110(22):8954-9. doi: 10.1073/pnas.1302927110. Epub 2013 May 13.


Spectrum and risk of neoplasia in Werner syndrome: a systematic review.

Lauper JM, Krause A, Vaughan TL, Monnat RJ Jr.

PLoS One. 2013;8(4):e59709. doi: 10.1371/journal.pone.0059709. Epub 2013 Apr 1. Review.


Human RECQ1 promotes restart of replication forks reversed by DNA topoisomerase I inhibition.

Berti M, Ray Chaudhuri A, Thangavel S, Gomathinayagam S, Kenig S, Vujanovic M, Odreman F, Glatter T, Graziano S, Mendoza-Maldonado R, Marino F, Lucic B, Biasin V, Gstaiger M, Aebersold R, Sidorova JM, Monnat RJ Jr, Lopes M, Vindigni A.

Nat Struct Mol Biol. 2013 Mar;20(3):347-54. doi: 10.1038/nsmb.2501. Epub 2013 Feb 10.


Diabetes mellitus and cancer in Werner syndrome.

Lauper JM, Monnat RJ Jr.

Acta Diabetol. 2014 Feb;51(1):159-61. doi: 10.1007/s00592-013-0456-z. Epub 2013 Feb 6.


Okazaki fragment processing-independent role for human Dna2 enzyme during DNA replication.

Duxin JP, Moore HR, Sidorova J, Karanja K, Honaker Y, Dao B, Piwnica-Worms H, Campbell JL, Monnat RJ Jr, Stewart SA.

J Biol Chem. 2012 Jun 22;287(26):21980-91. doi: 10.1074/jbc.M112.359018. Epub 2012 May 7.


Comprehensive homing endonuclease target site specificity profiling reveals evolutionary constraints and enables genome engineering applications.

Li H, Ulge UY, Hovde BT, Doyle LA, Monnat RJ Jr.

Nucleic Acids Res. 2012 Mar;40(6):2587-98. doi: 10.1093/nar/gkr1072. Epub 2011 Nov 25.


A synthetic homing endonuclease-based gene drive system in the human malaria mosquito.

Windbichler N, Menichelli M, Papathanos PA, Thyme SB, Li H, Ulge UY, Hovde BT, Baker D, Monnat RJ Jr, Burt A, Crisanti A.

Nature. 2011 May 12;473(7346):212-5. doi: 10.1038/nature09937. Epub 2011 Apr 20.


Comprehensive computational design of mCreI homing endonuclease cleavage specificity for genome engineering.

Ulge UY, Baker DA, Monnat RJ Jr.

Nucleic Acids Res. 2011 May;39(10):4330-9. doi: 10.1093/nar/gkr022. Epub 2011 Feb 1.


Human RECQ helicases: roles in DNA metabolism, mutagenesis and cancer biology.

Monnat RJ Jr.

Semin Cancer Biol. 2010 Oct;20(5):329-39. doi: 10.1016/j.semcancer.2010.10.002. Epub 2010 Oct 8. Review.


The human WRN and BLM RecQ helicases differentially regulate cell proliferation and survival after chemotherapeutic DNA damage.

Mao FJ, Sidorova JM, Lauper JM, Emond MJ, Monnat RJ.

Cancer Res. 2010 Aug 15;70(16):6548-55. doi: 10.1158/0008-5472.CAN-10-0475. Epub 2010 Jul 27.


Human RECQ1 and RECQ4 helicases play distinct roles in DNA replication initiation.

Thangavel S, Mendoza-Maldonado R, Tissino E, Sidorova JM, Yin J, Wang W, Monnat RJ Jr, Falaschi A, Vindigni A.

Mol Cell Biol. 2010 Mar;30(6):1382-96. doi: 10.1128/MCB.01290-09. Epub 2010 Jan 11.


Divergent cellular phenotypes of human and mouse cells lacking the Werner syndrome RecQ helicase.

Dhillon KK, Sidorova JM, Albertson TM, Anderson JB, Ladiges WC, Rabinovitch PS, Preston BD, Monnat RJ Jr.

DNA Repair (Amst). 2010 Jan 2;9(1):11-22. doi: 10.1016/j.dnarep.2009.09.013. Epub 2009 Nov 5.


Microfluidic-assisted analysis of replicating DNA molecules.

Sidorova JM, Li N, Schwartz DC, Folch A, Monnat RJ Jr.

Nat Protoc. 2009;4(6):849-61. doi: 10.1038/nprot.2009.54. Epub 2009 May 14.


Human DNA polymerase eta is required for common fragile site stability during unperturbed DNA replication.

Rey L, Sidorova JM, Puget N, Boudsocq F, Biard DS, Monnat RJ Jr, Cazaux C, Hoffmann JS.

Mol Cell Biol. 2009 Jun;29(12):3344-54. doi: 10.1128/MCB.00115-09. Epub 2009 Apr 20.


Generation of a nicking enzyme that stimulates site-specific gene conversion from the I-AniI LAGLIDADG homing endonuclease.

McConnell Smith A, Takeuchi R, Pellenz S, Davis L, Maizels N, Monnat RJ Jr, Stoddard BL.

Proc Natl Acad Sci U S A. 2009 Mar 31;106(13):5099-104. doi: 10.1073/pnas.0810588106. Epub 2009 Mar 10.


Generation of single-chain LAGLIDADG homing endonucleases from native homodimeric precursor proteins.

Li H, Pellenz S, Ulge U, Stoddard BL, Monnat RJ Jr.

Nucleic Acids Res. 2009 Apr;37(5):1650-62. doi: 10.1093/nar/gkp004. Epub 2009 Jan 19.


DNA polymerases and human disease.

Loeb LA, Monnat RJ Jr.

Nat Rev Genet. 2008 Aug;9(8):594-604. doi: 10.1038/nrg2345. Review.


Assessment of protein dynamics and DNA repair following generation of DNA double-strand breaks at defined genomic sites.

Berkovich E, Monnat RJ Jr, Kastan MB.

Nat Protoc. 2008;3(5):915-22. doi: 10.1038/nprot.2008.54.


The RecQ helicase WRN is required for normal replication fork progression after DNA damage or replication fork arrest.

Sidorova JM, Li N, Folch A, Monnat RJ Jr.

Cell Cycle. 2008 Mar 15;7(6):796-807. Epub 2008 Jan 4.


Altered target site specificity variants of the I-PpoI His-Cys box homing endonuclease.

Eklund JL, Ulge UY, Eastberg J, Monnat RJ Jr.

Nucleic Acids Res. 2007;35(17):5839-50. Epub 2007 Aug 24.


Roles of ATM and NBS1 in chromatin structure modulation and DNA double-strand break repair.

Berkovich E, Monnat RJ Jr, Kastan MB.

Nat Cell Biol. 2007 Jun;9(6):683-90. Epub 2007 May 7.


From broken to old: DNA damage, IGF1 endocrine suppression and aging.

Monnat RJ Jr.

DNA Repair (Amst). 2007 Sep 1;6(9):1386-90. Epub 2007 May 3. Review.

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