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Items: 1 to 50 of 63

1.

Attenuated DNA damage responses and increased apoptosis characterize human hematopoietic stem cells exposed to irradiation.

Biechonski S, Olender L, Zipin-Roitman A, Yassin M, Aqaqe N, Marcu-Malina V, Rall-Scharpf M, Trottier M, Meyn MS, Wiesmüller L, Beider K, Raz Y, Grisaru D, Nagler A, Milyavsky M.

Sci Rep. 2018 Apr 17;8(1):6071. doi: 10.1038/s41598-018-24440-w.

2.

Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.

Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, Shuman C, Sondheimer N, Weksberg R, Yoon G, Meyn MS, Stavropoulos DJ, Scherer SW, Mendoza-Londono R, Marshall CR.

Eur J Hum Genet. 2018 May;26(5):740-744. doi: 10.1038/s41431-018-0114-6. Epub 2018 Feb 16.

PMID:
29453418
3.

Evidence for genetic anticipation in vonHippel-Lindau syndrome.

Aronoff L, Malkin D, van Engelen K, Gallinger B, Wasserman J, Kim RH, Villani A, Meyn MS, Druker H.

J Med Genet. 2018 Jun;55(6):395-402. doi: 10.1136/jmedgenet-2017-104882. Epub 2018 Feb 7.

PMID:
29437867
4.

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants.

Reuter MS, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, Yuen RKC, Trost B, Paton TA, Pereira SL, Herbrick JA, Wintle RF, Merico D, Howe J, MacDonald JR, Lu C, Nalpathamkalam T, Sung WWL, Wang Z, Patel RV, Pellecchia G, Wei J, Strug LJ, Bell S, Kellam B, Mahtani MM, Bassett AS, Bombard Y, Weksberg R, Shuman C, Cohn RD, Stavropoulos DJ, Bowdin S, Hildebrandt MR, Wei W, Romm A, Pasceri P, Ellis J, Ray P, Meyn MS, Monfared N, Hosseini SM, Joseph-George AM, Keeley FW, Cook RA, Fiume M, Lee HC, Marshall CR, Davies J, Hazell A, Buchanan JA, Szego MJ, Scherer SW.

CMAJ. 2018 Feb 5;190(5):E126-E136. doi: 10.1503/cmaj.171151.

5.

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study.

Cohn I, Paton TA, Marshall CR, Basran R, Stavropoulos DJ, Ray PN, Monfared N, Hayeems RZ, Meyn MS, Bowdin S, Scherer SW, Cohn RD, Ito S.

NPJ Genom Med. 2017 May 26;2:19. doi: 10.1038/s41525-017-0021-8. eCollection 2017.

6.

Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.

Hayeems RZ, Bhawra J, Tsiplova K, Meyn MS, Monfared N, Bowdin S, Stavropoulos DJ, Marshall CR, Basran R, Shuman C, Ito S, Cohn I, Hum C, Girdea M, Brudno M, Cohn RD, Scherer SW, Ungar WJ.

Eur J Hum Genet. 2017 Dec;25(12):1303-1312. doi: 10.1038/s41431-017-0020-3. Epub 2017 Nov 20.

PMID:
29158552
7.

Comprehensive Analysis of Hypermutation in Human Cancer.

Campbell BB, Light N, Fabrizio D, Zatzman M, Fuligni F, de Borja R, Davidson S, Edwards M, Elvin JA, Hodel KP, Zahurancik WJ, Suo Z, Lipman T, Wimmer K, Kratz CP, Bowers DC, Laetsch TW, Dunn GP, Johanns TM, Grimmer MR, Smirnov IV, Larouche V, Samuel D, Bronsema A, Osborn M, Stearns D, Raman P, Cole KA, Storm PB, Yalon M, Opocher E, Mason G, Thomas GA, Sabel M, George B, Ziegler DS, Lindhorst S, Issai VM, Constantini S, Toledano H, Elhasid R, Farah R, Dvir R, Dirks P, Huang A, Galati MA, Chung J, Ramaswamy V, Irwin MS, Aronson M, Durno C, Taylor MD, Rechavi G, Maris JM, Bouffet E, Hawkins C, Costello JF, Meyn MS, Pursell ZF, Malkin D, Tabori U, Shlien A.

Cell. 2017 Nov 16;171(5):1042-1056.e10. doi: 10.1016/j.cell.2017.09.048. Epub 2017 Oct 19.

8.

DICER1 syndrome: Approach to testing and management at a large pediatric tertiary care center.

van Engelen K, Villani A, Wasserman JD, Aronoff L, Greer MC, Tijerin Bueno M, Gallinger B, Kim RH, Grant R, Meyn MS, Malkin D, Druker H.

Pediatr Blood Cancer. 2018 Jan;65(1). doi: 10.1002/pbc.26720. Epub 2017 Sep 27.

PMID:
28960912
9.

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.

Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR.

Genet Med. 2018 Apr;20(4):435-443. doi: 10.1038/gim.2017.119. Epub 2017 Aug 3.

10.

Parents perspectives on whole genome sequencing for their children: qualified enthusiasm?

Anderson JA, Meyn MS, Shuman C, Zlotnik Shaul R, Mantella LE, Szego MJ, Bowdin S, Monfared N, Hayeems RZ.

J Med Ethics. 2017 Aug;43(8):535-539. doi: 10.1136/medethics-2016-103564. Epub 2016 Nov 25.

PMID:
27888232
11.

Recommendations for the integration of genomics into clinical practice.

Bowdin S, Gilbert A, Bedoukian E, Carew C, Adam MP, Belmont J, Bernhardt B, Biesecker L, Bjornsson HT, Blitzer M, D'Alessandro LC, Deardorff MA, Demmer L, Elliott A, Feldman GL, Glass IA, Herman G, Hindorff L, Hisama F, Hudgins L, Innes AM, Jackson L, Jarvik G, Kim R, Korf B, Ledbetter DH, Li M, Liston E, Marshall C, Medne L, Meyn MS, Monfared N, Morton C, Mulvihill JJ, Plon SE, Rehm H, Roberts A, Shuman C, Spinner NB, Stavropoulos DJ, Valverde K, Waggoner DJ, Wilkens A, Cohn RD, Krantz ID.

Genet Med. 2016 Nov;18(11):1075-1084. doi: 10.1038/gim.2016.17. Epub 2016 May 12. Review.

12.

Impaired telomere maintenance in Alazami syndrome patients with LARP7 deficiency.

Holohan B, Kim W, Lai TP, Hoshiyama H, Zhang N, Alazami AM, Wright WE, Meyn MS, Alkuraya FS, Shay JW.

BMC Genomics. 2016 Oct 17;17(Suppl 9):749.

13.

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.

Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Shaul RZ, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Porras RB, Carter MT, Chad L, Chaudhry A, Chitayat D, Doust SJ, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R, Ray PN, Meyn MS, Scherer SW, Cohn RD, Marshall CR.

NPJ Genom Med. 2016 Jan 13;1. pii: 15012. doi: 10.1038/npjgenmed.2015.12.

14.

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.

Boycott K, Hartley T, Adam S, Bernier F, Chong K, Fernandez BA, Friedman JM, Geraghty MT, Hume S, Knoppers BM, Laberge AM, Majewski J, Mendoza-Londono R, Meyn MS, Michaud JL, Nelson TN, Richer J, Sadikovic B, Skidmore DL, Stockley T, Taylor S, van Karnebeek C, Zawati MH, Lauzon J, Armour CM; Canadian College of Medical Geneticists.

J Med Genet. 2015 Jul;52(7):431-7. doi: 10.1136/jmedgenet-2015-103144. Epub 2015 May 7.

15.

The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine.

Bowdin SC, Hayeems RZ, Monfared N, Cohn RD, Meyn MS.

Clin Genet. 2016 Jan;89(1):10-9. doi: 10.1111/cge.12579. Epub 2015 Mar 24. Review.

PMID:
25813238
16.

Visualization and quantitative analysis of extrachromosomal telomere-repeat DNA in individual human cells by Halo-FISH.

Komosa M, Root H, Meyn MS.

Nucleic Acids Res. 2015 Feb 27;43(4):2152-63. doi: 10.1093/nar/gkv091. Epub 2015 Feb 8.

17.

Combined hereditary and somatic mutations of replication error repair genes result in rapid onset of ultra-hypermutated cancers.

Shlien A, Campbell BB, de Borja R, Alexandrov LB, Merico D, Wedge D, Van Loo P, Tarpey PS, Coupland P, Behjati S, Pollett A, Lipman T, Heidari A, Deshmukh S, Avitzur N, Meier B, Gerstung M, Hong Y, Merino DM, Ramakrishna M, Remke M, Arnold R, Panigrahi GB, Thakkar NP, Hodel KP, Henninger EE, Göksenin AY, Bakry D, Charames GS, Druker H, Lerner-Ellis J, Mistry M, Dvir R, Grant R, Elhasid R, Farah R, Taylor GP, Nathan PC, Alexander S, Ben-Shachar S, Ling SC, Gallinger S, Constantini S, Dirks P, Huang A, Scherer SW, Grundy RG, Durno C, Aronson M, Gartner A, Meyn MS, Taylor MD, Pursell ZF, Pearson CE, Malkin D, Futreal PA, Stratton MR, Bouffet E, Hawkins C, Campbell PJ, Tabori U; Biallelic Mismatch Repair Deficiency Consortium.

Nat Genet. 2015 Mar;47(3):257-62. doi: 10.1038/ng.3202. Epub 2015 Feb 2.

PMID:
25642631
18.

Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines.

Anderson JA, Hayeems RZ, Shuman C, Szego MJ, Monfared N, Bowdin S, Zlotnik Shaul R, Meyn MS.

Clin Genet. 2015 Apr;87(4):301-10. doi: 10.1111/cge.12460. Epub 2014 Oct 7. Review.

PMID:
25046648
19.

The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical care.

Bowdin S, Ray PN, Cohn RD, Meyn MS.

Hum Mutat. 2014 May;35(5):513-9. doi: 10.1002/humu.22536. Epub 2014 Apr 7. Review.

PMID:
24599881
20.

Predictive genomic testing of children for adult onset disorders: a Canadian perspective.

Szego MJ, Meyn MS, Anderson JA, Hayeems R, Shuman C, Monfared N, Bowdin S, Shaul RZ.

Am J Bioeth. 2014;14(3):19-21. doi: 10.1080/15265161.2013.879960. No abstract available.

PMID:
24592833
21.

Metachronous neuroblastoma in an infant with germline translocation resulting in partial trisomy 2p: a role for ALK?

Morgenstern DA, Soh SY, Stavropoulos DJ, Bowdin S, Baruchel S, Malkin D, Meyn MS, Irwin MS.

J Pediatr Hematol Oncol. 2014 Apr;36(3):e193-6. doi: 10.1097/MPH.0b013e3182a8f25d.

PMID:
24276038
22.

Germ-line and somatic DICER1 mutations in a pleuropulmonary blastoma.

de Kock L, Plourde F, Carter MT, Hamel N, Srivastava A, Meyn MS, Arseneau J, Bouron-Dal Soglio D, Foulkes WD.

Pediatr Blood Cancer. 2013 Dec;60(12):2091-2. doi: 10.1002/pbc.24692. Epub 2013 Jul 19. No abstract available.

PMID:
23868280
23.

PhenoTips: patient phenotyping software for clinical and research use.

Girdea M, Dumitriu S, Fiume M, Bowdin S, Boycott KM, Chénier S, Chitayat D, Faghfoury H, Meyn MS, Ray PN, So J, Stavropoulos DJ, Brudno M.

Hum Mutat. 2013 Aug;34(8):1057-65. doi: 10.1002/humu.22347. Epub 2013 May 24.

PMID:
23636887
24.

Transient leukemia in newborns without down syndrome: diagnostic and management challenges.

Williams BA, Meyn MS, Hitzler JK.

J Pediatr Hematol Oncol. 2011 Aug;33(6):e261-3. doi: 10.1097/MPH.0b013e3182159f4e.

PMID:
21768885
25.

Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.

Spencer E, Davis J, Mikhail F, Fu C, Vijzelaar R, Zackai EH, Feret H, Meyn MS, Shugar A, Bellus G, Kocsis K, Kivirikko S, Pöyhönen M, Messiaen L.

Am J Med Genet A. 2011 Jun;155A(6):1352-9. doi: 10.1002/ajmg.a.33894. Epub 2011 May 5.

PMID:
21548021
26.

A distinctive DNA damage response in human hematopoietic stem cells reveals an apoptosis-independent role for p53 in self-renewal.

Milyavsky M, Gan OI, Trottier M, Komosa M, Tabach O, Notta F, Lechman E, Hermans KG, Eppert K, Konovalova Z, Ornatsky O, Domany E, Meyn MS, Dick JE.

Cell Stem Cell. 2010 Aug 6;7(2):186-97. doi: 10.1016/j.stem.2010.05.016. Epub 2010 Jul 8.

27.

A new means to deal with ends: Heat shock protein regulation of the DNA damage response protein Apollo.

Bradshaw PS, Meyn MS.

Cell Cycle. 2009 Jul 15;8(14):2138-9. Epub 2009 Jul 15. No abstract available.

PMID:
19587540
28.

The cycle of genome-directed medicine.

Buchanan JA, Carson AR, Chitayat D, Malkin D, Meyn MS, Ray PN, Shuman C, Weksberg R, Scherer SW.

Genome Med. 2009 Feb 2;1(2):16. doi: 10.1186/gm16.

29.

Endogenous hSNM1B/Apollo interacts with TRF2 and stimulates ATM in response to ionizing radiation.

Demuth I, Bradshaw PS, Lindner A, Anders M, Heinrich S, Kallenbach J, Schmelz K, Digweed M, Meyn MS, Concannon P.

DNA Repair (Amst). 2008 Aug 2;7(8):1192-201. doi: 10.1016/j.dnarep.2008.03.020. Epub 2008 May 12.

30.

DNA damage-induced phosphorylation of the human telomere-associated protein TRF2.

Tanaka H, Mendonca MS, Bradshaw PS, Hoelz DJ, Malkas LH, Meyn MS, Gilley D.

Proc Natl Acad Sci U S A. 2005 Oct 25;102(43):15539-44. Epub 2005 Oct 13.

31.

Human telomeric protein TRF2 associates with genomic double-strand breaks as an early response to DNA damage.

Bradshaw PS, Stavropoulos DJ, Meyn MS.

Nat Genet. 2005 Feb;37(2):193-7. Epub 2005 Jan 23.

PMID:
15665826
32.
33.

Epithelial cancer in Fanconi anemia complementation group D2 (Fancd2) knockout mice.

Houghtaling S, Timmers C, Noll M, Finegold MJ, Jones SN, Meyn MS, Grompe M.

Genes Dev. 2003 Aug 15;17(16):2021-35. Epub 2003 Jul 31.

34.

The Bloom syndrome helicase BLM interacts with TRF2 in ALT cells and promotes telomeric DNA synthesis.

Stavropoulos DJ, Bradshaw PS, Li X, Pasic I, Truong K, Ikura M, Ungrin M, Meyn MS.

Hum Mol Genet. 2002 Dec 1;11(25):3135-44.

PMID:
12444098
35.

The role of Alu repeat clusters as mediators of recurrent chromosomal aberrations in tumors.

Kolomietz E, Meyn MS, Pandita A, Squire JA.

Genes Chromosomes Cancer. 2002 Oct;35(2):97-112. Review.

PMID:
12203773
36.
37.

Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway.

Garcia-Higuera I, Taniguchi T, Ganesan S, Meyn MS, Timmers C, Hejna J, Grompe M, D'Andrea AD.

Mol Cell. 2001 Feb;7(2):249-62.

38.
39.

WRN or telomerase constructs reverse 4-nitroquinoline 1-oxide sensitivity in transformed Werner syndrome fibroblasts.

Hisama FM, Chen YH, Meyn MS, Oshima J, Weissman SM.

Cancer Res. 2000 May 1;60(9):2372-6.

40.

Ataxia-telangiectasia, cancer and the pathobiology of the ATM gene.

Meyn MS.

Clin Genet. 1999 May;55(5):289-304. Review.

PMID:
10422797
41.

Human fibroblasts transfected with an ATM antisense vector respond abnormally to ionizing radiation.

Uhrhammer N, Fritz E, Boyden L, Meyn MS.

Int J Mol Med. 1999 Jul;4(1):43-7.

PMID:
10373636
42.

Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: analysis of cell-cycle distribution and radiation sensitivity.

Elsea SH, Fritz E, Schoener-Scott R, Meyn MS, Patel PI.

Am J Med Genet. 1998 Jan 6;75(1):104-8.

PMID:
9450867
43.
44.

Chromosome instability syndromes: lessons for carcinogenesis.

Meyn MS.

Curr Top Microbiol Immunol. 1997;221:71-148. Review. No abstract available.

PMID:
8979441
45.

The Atr and Atm protein kinases associate with different sites along meiotically pairing chromosomes.

Keegan KS, Holtzman DA, Plug AW, Christenson ER, Brainerd EE, Flaggs G, Bentley NJ, Taylor EM, Meyn MS, Moss SB, Carr AM, Ashley T, Hoekstra MF.

Genes Dev. 1996 Oct 1;10(19):2423-37.

46.

Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma.

Xu Y, Ashley T, Brainerd EE, Bronson RT, Meyn MS, Baltimore D.

Genes Dev. 1996 Oct 1;10(19):2411-22.

47.

Ataxia-telangiectasia and cellular responses to DNA damage.

Meyn MS.

Cancer Res. 1995 Dec 15;55(24):5991-6001. Review.

48.

Velo-facio-skeletal syndrome in a mother and daughter.

Teebi AS, Qumsiyeh MB, Meyers-Seifer CH, Meyn MS.

Am J Med Genet. 1995 Jul 31;58(1):8-12.

PMID:
7573161
49.

Testing the role of p53 in the expression of genetic instability and apoptosis in ataxia-telangiectasia.

Meyn MS, Strasfeld L, Allen C.

Int J Radiat Biol. 1994 Dec;66(6 Suppl):S141-9.

PMID:
7836842
50.

Testing the Role of p53 in the Expression of Genetic Instability and Apoptosis in Ataxia-telangiectasia.

Meyn MS, Strasfeld L, Allen C.

Int J Radiat Biol. 1994;66(sup6):S141-S149. doi: 10.1080/09553009414551971.

PMID:
28872959

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