• 49246 Citations
  • 65 h-Index
1986 …2020

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2020

Novel POFUT1 mutation in patient with flexural and acral hyperpigmented reticulated macules presenting in adolescence

Kiuru, M., Terrell, J. R., Gorouhi, F. & McPherson, J. D., Apr 2020, In : JAAD Case Reports. 6, 4, p. 334-336 3 p.

Research output: Contribution to journalArticle

Open Access

RAS pathway influences the number of melanocytic nevi in cardiofaciocutaneous and Costello syndromes

Kiuru, M., Urban, J., Zhu, G., Rybak, I., Terrell, J. R., Qi, L., McPherson, J. D., Marghoob, A. A. & Rauen, K. A., Jan 1 2020, (Accepted/In press) In : Journal of the American Academy of Dermatology.

Research output: Contribution to journalArticle

2019

Activation of hedgehog signaling associates with early disease progression in chronic lymphocytic leukemia

HALT Pan-Leukemia Gene Panel Consortium, Jun 20 2019, In : Blood. 133, 25, p. 2651-2663 13 p.

Research output: Contribution to journalArticle

2 Scopus citations

Comparative toxicoproteogenomics of mouse and rat liver identifies TCDD-resistance genes

Prokopec, S. D., Lu, A., Lee, S. C. E. S., Yao, C. Q., Sun, R. X., Watson, J. D., Soliymani, R., de Borja, R., Wong, A., Sam, M., Zuzarte, P., McPherson, J. D., Okey, A. B., Pohjanvirta, R. & Boutros, P. C., Oct 1 2019, In : Archives of Toxicology. 93, 10, p. 2961-2978 18 p.

Research output: Contribution to journalArticle

2 Scopus citations

Genome-wide germline correlates of the epigenetic landscape of prostate cancer

Houlahan, K. E., Shiah, Y. J., Gusev, A., Yuan, J., Ahmed, M., Shetty, A., Ramanand, S. G., Yao, C. Q., Bell, C., O’Connor, E., Huang, V., Fraser, M., Heisler, L. E., Livingstone, J., Yamaguchi, T. N., Rouette, A., Foucal, A., Espiritu, S. M. G., Sinha, A., Sam, M. & 23 others, Timms, L., Johns, J., Wong, A., Murison, A., Orain, M., Picard, V., Hovington, H., Bergeron, A., Lacombe, L., Lupien, M., Fradet, Y., Têtu, B., McPherson, J. D., Pasaniuc, B., Kislinger, T., Chua, M. L. K., Pomerantz, M. M., van der Kwast, T., Freedman, M. L., Mani, R. S., He, H. H., Bristow, R. G. & Boutros, P. C., Oct 1 2019, In : Nature Medicine. 25, 10, p. 1615-1626 12 p.

Research output: Contribution to journalArticle

2 Scopus citations

Identification of distinct prognostic groups: Implications for patient selection to targeted therapies among anti-endocrine therapy–resistant early breast cancers

Bayani, J., Kornaga, E. N., Crozier, C., Jang, G. H., Bathurst, L., Kalatskaya, I., Trinh, Q. M., Yao, C. Q., Livingstone, J., Boutros, P. C., Spears, M., McPherson, J. D., Stein, L. D., Rea, D. & Bartlett, J. M. S., Jan 1 2019, In : JCO Precision Oncology. 3

Research output: Contribution to journalArticle

Next-generation sequencing technologies

McCombie, W. R., McPherson, J. D. & Mardis, E. R., Nov 2019, In : Cold Spring Harbor Perspectives in Medicine. 9, 11, a036798.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

Regional perturbation of gene transcription is associated with intrachromosomal rearrangements and gene fusion transcripts in high grade ovarian cancer

Krzyzanowski, P. M., Sircoulomb, F., Yousif, F., Normand, J., La Rose, J., E. Francis, K., Suarez, F., Beck, T., Mcpherson, J. D., Stein, L. D. & Rottapel, R. K., Dec 1 2019, In : Scientific Reports. 9, 1, 3590.

Research output: Contribution to journalArticle

1 Scopus citations
2018

Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line

Nattestad, M., Goodwin, S., Ng, K., Baslan, T., Sedlazeck, F. J., Rescheneder, P., Garvin, T., Fang, H., Gurtowski, J., Hutton, E., Tseng, E., Chin, C. S., Beck, T., Sundaravadanam, Y., Kramer, M., Antoniou, E., Mcpherson, J. D., Hicks, J., Richard McCombie, W. & Schatz, M. C., Aug 1 2018, In : Genome Research. 28, 8, p. 1126-1135 10 p.

Research output: Contribution to journalArticle

26 Scopus citations

Diverse EGFR Exon 20 Insertions and Co-Occurring Molecular Alterations Identified by Comprehensive Genomic Profiling of NSCLC

Riess, J., Gandara, D. R., Frampton, G. M., Madison, R., Peled, N., Bufill, J. A., Dy, G. K., Ou, S. H. I., Stephens, P. J., Mcpherson, J. D., Lara, P. N., Burich, R. A., Ross, J. S., Miller, V. A., Ali, S. M., Mack, P. & Schrock, A. B., Oct 1 2018, In : Journal of Thoracic Oncology. 13, 10, p. 1560-1568 9 p.

Research output: Contribution to journalArticle

19 Scopus citations
5 Scopus citations

Minimally invasive real-time detection of actionable mutations in patients with metastatic solid tumors using fine-needle and liquid biopsies

Aung, K. L., Bedard, P. L., Yu, C., Boerner, S. L., Zuzarte, P. C., Ghai, S., Berman, H. K., Serra, S., Giesler, A., Ahmed, L., Joshua, A. M., Moore, M. J., Oza, A. M., Amir, E., McPherson, J. D., Zhang, T., Sukhai, M. A., Stockley, T. L., Kamel-Reid, S., Siu, L. L. & 1 others, Hansen, A. R., Jan 1 2018, In : JCO Precision Oncology. 2

Research output: Contribution to journalArticle

Prediction of acute myeloid leukaemia risk in healthy individuals

Abelson, S., Collord, G., Ng, S. W. K., Weissbrod, O., Mendelson Cohen, N., Niemeyer, E., Barda, N., Zuzarte, P. C., Heisler, L., Sundaravadanam, Y., Luben, R., Hayat, S., Wang, T. T., Zhao, Z., Cirlan, I., Pugh, T. J., Soave, D., Ng, K., Latimer, C., Hardy, C. & 55 others, Raine, K., Jones, D., Hoult, D., Britten, A., Mcpherson, J. D., Johansson, M., Mbabaali, F., Eagles, J., Miller, J. K., Pasternack, D., Timms, L., Krzyzanowski, P., Awadalla, P., Costa, R., Segal, E., Bratman, S. V., Beer, P., Behjati, S., Martincorena, I., Wang, J. C. Y., Bowles, K. M., Quirós, J. R., Karakatsani, A., La Vecchia, C., Trichopoulou, A., Salamanca-Fernández, E., Huerta, J. M., Barricarte, A., Travis, R. C., Tumino, R., Masala, G., Boeing, H., Panico, S., Kaaks, R., Krämer, A., Sieri, S., Riboli, E., Vineis, P., Foll, M., McKay, J., Polidoro, S., Sala, N., Khaw, K. T., Vermeulen, R., Campbell, P. J., Papaemmanuil, E., Minden, M. D., Tanay, A., Balicer, R. D., Wareham, N. J., Gerstung, M., Dick, J. E., Brennan, P., Vassiliou, G. S. & Shlush, L. I., Jul 19 2018, In : Nature. 559, 7714, p. 400-404 5 p.

Research output: Contribution to journalArticle

140 Scopus citations
2017

Association of distinct mutational signatures with correlates of increased immune activity in pancreatic ductal adenocarcinoma

Connor, A. A., Denroche, R. E., Jang, G. H., Timms, L., Kalimuthu, S. N., Selander, I., McPherson, T., Wilson, G. W., Chan-Seng-Yue, M. A., Borozan, I., Ferretti, V., Grant, R. C., Lungu, I. M., Costello, E., Greenhalf, W., Palmer, D., Ghaneh, P., Neoptolemos, J. P., Buchler, M., Petersen, G. & 20 others, Thayer, S., Hollingsworth, M. A., Sherker, A., Durocher, D., Dhani, N., Hedley, D., Serra, S., Pollett, A., Roehrl, M. H. A., Bavi, P., Bartlett, J. M. S., Cleary, S., Wilson, J. M., Alexandrov, L. B., Moore, M., Wouters, B. G., Mcpherson, J. D., Notta, F., Stein, L. D. & Gallinger, S., Jun 1 2017, In : JAMA oncology. 3, 6, p. 774-783 10 p.

Research output: Contribution to journalArticle

87 Scopus citations

Genomic hallmarks of localized, non-indolent prostate cancer

Fraser, M., Sabelnykova, V. Y., Yamaguchi, T. N., Heisler, L. E., Livingstone, J., Huang, V., Shiah, Y. J., Yousif, F., Lin, X., Masella, A. P., Fox, N. S., Xie, M., Prokopec, S. D., Berlin, A., Lalonde, E., Ahmed, M., Trudel, D., Luo, X., Beck, T. A., Meng, A. & 50 others, Zhang, J., D'Costa, A., Denroche, R. E., Kong, H., Espiritu, S. M. G., Chua, M. L. K., Wong, A., Chong, T., Sam, M., Johns, J., Timms, L., Buchner, N. B., Orain, M., Picard, V., Hovington, H., Murison, A., Kron, K., Harding, N. J., P'ng, C., Houlahan, K. E., Chu, K. C., Lo, B., Nguyen, F., Li, C. H., Sun, R. X., de Borja, R., Cooper, C. I., Hopkins, J. F., Govind, S. K., Fung, C., Waggott, D., Green, J., Haider, S., Chan-Seng-Yue, M. A., Jung, E., Wang, Z., Bergeron, A., Pra, A. D., Lacombe, L., Collins, C. C., Sahinalp, C., Lupien, M., Fleshner, N. E., He, H. H., Fradet, Y., Tetu, B., van der Kwast, T., Mcpherson, J. D., Bristow, R. G. & Boutros, P. C., Jan 19 2017, In : Nature. 541, 7637, p. 359-364 6 p.

Research output: Contribution to journalArticle

188 Scopus citations

Germline BRCA2 mutations drive prostate cancers with distinct evolutionary trajectories

Taylor, R. A., Fraser, M., Livingstone, J., Espiritu, S. M. G., Thorne, H., Huang, V., Lo, W., Shiah, Y. J., Yamaguchi, T. N., Sliwinski, A., Horsburgh, S., Meng, A., Heisler, L. E., Yu, N., Yousif, F., Papargiris, M., Lawrence, M. G., Timms, L., Murphy, D. G., Frydenberg, M. & 8 others, Hopkins, J. F., Bolton, D., Clouston, D., Mcpherson, J. D., Van Der Kwast, T., Boutros, P. C., Risbridger, G. P. & Bristow, R. G., Jan 9 2017, In : Nature Communications. 8, 13671.

Research output: Contribution to journalArticle

79 Scopus citations

Interrogation of Functional Cell-Surface Markers Identifies CD151 Dependency in High-Grade Serous Ovarian Cancer

Medrano, M., Communal, L., Brown, K. R., Iwanicki, M., Normand, J., Paterson, J., Sircoulomb, F., Krzyzanowski, P., Novak, M., Doodnauth, S. A., Saiz, F. S., Cullis, J., Al-awar, R., Neel, B. G., Mcpherson, J. D., Drapkin, R., Ailles, L., Mes-Massons, A. M. & Rottapel, R., Mar 7 2017, In : Cell Reports. 18, 10, p. 2343-2358 16 p.

Research output: Contribution to journalArticle

15 Scopus citations

ISOWN: Accurate somatic mutation identification in the absence of normal tissue controls

Kalatskaya, I., Trinh, Q. M., Spears, M., Mcpherson, J. D., Bartlett, J. M. S. & Stein, L., Jun 29 2017, In : Genome Medicine. 9, 1, 59.

Research output: Contribution to journalArticle

19 Scopus citations

Microscopy with ultraviolet surface excitation for rapid slide-free histology

Fereidouni, F., Harmany, Z. T., Tian, M., Todd, A., Kintner, J. A., McPherson, J. D., Borowsky, A. D., Bishop, J., Lechpammer, M., Demos, S. G. & Levenson, R., Dec 1 2017, In : Nature Biomedical Engineering. 1, 12, p. 957-966 10 p.

Research output: Contribution to journalArticle

54 Scopus citations

Mitochondrial mutations drive prostate cancer aggression

Hopkins, J. F., Sabelnykova, V. Y., Weischenfeldt, J., Simon, R., Aguiar, J. A., Alkallas, R., Heisler, L. E., Zhang, J., Watson, J. D., Chua, M. L. K., Fraser, M., Favero, F., Lawerenz, C., Plass, C., Sauter, G., Mcpherson, J. D., Van Der Kwast, T., Korbel, J., Schlomm, T., Bristow, R. G. & 1 others, Boutros, P. C., Dec 1 2017, In : Nature Communications. 8, 1, 656.

Research output: Contribution to journalArticle

25 Scopus citations

Molecular heterogeneity of non-small cell lung carcinoma patient-derived xenografts closely reflect their primary tumors

Wang, D., Pham, N. A., Tong, J., Sakashita, S., Allo, G., Kim, L., Yanagawa, N., Raghavan, V., Wei, Y., To, C., Trinh, Q. M., Starmans, M. H. W., Chan-Seng-Yue, M. A., Chadwick, D., Li, L., Zhu, C. Q., Liu, N., Li, M., Lee, S., Ignatchenko, V. & 13 others, Strumpf, D., Taylor, P., Moghal, N., Liu, G., Boutros, P. C., Kislinger, T., Pintilie, M., Jurisica, I., Shepherd, F. A., Mcpherson, J. D., Muthuswamy, L., Moran, M. F. & Tsao, M. S., Feb 1 2017, In : International Journal of Cancer. 140, 3, p. 662-673 12 p.

Research output: Contribution to journalArticle

25 Scopus citations

Recurrent noncoding regulatory mutations in pancreatic ductal adenocarcinoma

Feigin, M. E., Garvin, T., Bailey, P., Waddell, N., Chang, D. K., Kelley, D. R., Shuai, S., Gallinger, S., Mcpherson, J. D., Grimmond, S. M., Khurana, E., Stein, L. D., Biankin, A. V., Schatz, M. C. & Tuveson, D. A., Jun 1 2017, In : Nature Genetics. 49, 6, p. 825-833 9 p.

Research output: Contribution to journalArticle

26 Scopus citations

TMPRSS2-ERG fusions unexpectedly identified in men initially diagnosed with nonprostatic malignancies

Lara, P. N., Heilmann, A. M., Elvin, J. A., Parikh, M., White, R. D. V., Gandour-Edwards, R., Evans, C. P., Pan, C. X., Schrock, A. B., Erlich, R., Ross, J. S., Stephens, P. J., McPherson, J., Miller, V. A. & Ali, S. M., Jan 1 2017, In : JCO Precision Oncology. 2017, 1, p. 1-6 6 p.

Research output: Contribution to journalArticle

3 Scopus citations

Tracing the origins of relapse in acute myeloid leukaemia to stem cells

Shlush, L. I., Mitchell, A., Heisler, L., Abelson, S., Ng, S. W. K., Trotman-Grant, A., Medeiros, J. J. F., Rao-Bhatia, A., Jaciw-Zurakowsky, I., Marke, R., McLeod, J. L., Doedens, M., Bader, G., Voisin, V., Xu, C., Mcpherson, J. D., Hudson, T. J., Wang, J. C. Y., Minden, M. D. & Dick, J. E., Jul 6 2017, In : Nature. 547, 7661, p. 104-108 5 p.

Research output: Contribution to journalArticle

133 Scopus citations
2016

A renewed model of pancreatic cancer evolution based on genomic rearrangement patterns

Notta, F., Chan-Seng-Yue, M., Lemire, M., Li, Y., Wilson, G. W., Connor, A. A., Denroche, R. E., Liang, S. B., Brown, A. M. K., Kim, J. C., Wang, T., Simpson, J. T., Beck, T., Borgida, A., Buchner, N., Chadwick, D., Hafezi-Bakhtiari, S., Dick, J. E., Heisler, L., Hollingsworth, M. A. & 26 others, Ibrahimov, E., Jang, G. H., Johns, J., Jorgensen, L. G. T., Law, C., Ludkovski, O., Lungu, I., Ng, K., Pasternack, D., Petersen, G. M., Shlush, L. I., Timms, L., Tsao, M. S., Wilson, J. M., Yung, C. K., Zogopoulos, G., Bartlett, J. M. S., Alexandrov, L. B., Real, F. X., Cleary, S. P., Roehrl, M. H., Mcpherson, J. D., Stein, L. D., Hudson, T. J., Campbell, P. J. & Gallinger, S., 2016, In : Nature. 538, 7625, p. 378-382 5 p.

Research output: Contribution to journalArticle

189 Scopus citations

Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer

Smith, A. L., Alirezaie, N., Connor, A., Chan-Seng-Yue, M., Grant, R., Selander, I., Bascuñana, C., Borgida, A., Hall, A., Whelan, T., Holter, S., McPherson, T., Cleary, S., Petersen, G. M., Omeroglu, A., Saloustros, E., Mcpherson, J. D., Stein, L. D., Foulkes, W. D., Majewski, J. & 2 others, Gallinger, S. & Zogopoulos, G., Jan 28 2016, In : Cancer Letters. 370, 2, p. 302-312 11 p.

Research output: Contribution to journalArticle

23 Scopus citations

Distinct routes of lineage development reshape the human blood hierarchy across ontogeny

Notta, F., Zandi, S., Takayama, N., Dobson, S., Gan, O. I., Wilson, G., Kaufmann, K. B., McLeod, J., Laurenti, E., Dunant, C. F., Mcpherson, J. D., Stein, L. D., Dror, Y. & Dick, J. E., Jan 8 2016, In : Science. 351, 6269, aab2116.

Research output: Contribution to journalArticle

280 Scopus citations

Fine mapping of chromosome 5p15.33 based on a targeted deep sequencing and high density genotyping identifies novel lung cancer susceptibility loci

Kachuri, L., Amos, C. I., McKay, J. D., Johansson, M., Vineis, P., Bueno-de-Mesquita, H. B., Boutron-Ruault, M. C., Johansson, M., Quirós, J. R., Sieri, S., Travis, R. C., Weiderpass, E., Le Marchand, L., Henderson, B. E., Wilkens, L., Goodman, G. E., Chen, C., Doherty, J. A., Christiani, D. C., Wei, Y. & 24 others, Su, L., Tworoger, S., Zhang, X., Kraft, P., Zaridze, D., Field, J. K., Marcus, M. W., Davies, M. P. A., Hyde, R., Caporaso, N. E., Landi, M. T., Severi, G., Giles, G. G., Liu, G., McLaughlin, J. R., Li, Y., Xiao, X., Fehringer, G., Zong, X., Denroche, R. E., Zuzarte, P. C., Mcpherson, J. D., Brennan, P. & Hung, R. J., Jan 1 2016, In : Carcinogenesis. 37, 1, p. 96-105 10 p.

Research output: Contribution to journalArticle

22 Scopus citations

Truncating Erythropoietin Receptor Rearrangements in Acute Lymphoblastic Leukemia

Iacobucci, I., Li, Y., Roberts, K. G., Dobson, S. M., Kim, J. C., Payne-Turner, D., Harvey, R. C., Valentine, M., McCastlain, K., Easton, J., Yergeau, D., Janke, L. J., Shao, Y., Chen, I. M. L., Rusch, M., Zandi, S., Kornblau, S. M., Konopleva, M., Jabbour, E., Paietta, E. M. & 17 others, Rowe, J. M., Pui, C. H., Gastier-Foster, J., Gu, Z., Reshmi, S., Loh, M. L., Racevskis, J., Tallman, M. S., Wiernik, P. H., Litzow, M. R., Willman, C. L., Mcpherson, J. D., Downing, J. R., Zhang, J., Dick, J. E., Hunger, S. P. & Mullighan, C. G., Feb 8 2016, In : Cancer Cell. 29, 2, p. 186-200 15 p.

Research output: Contribution to journalArticle

61 Scopus citations
2015

A cancer cell-line titration series for evaluating somatic classification

Denroche, R. E., Mullen, L., Timms, L., Beck, T., Yung, C. K., Stein, L., Mcpherson, J. D. & Brown, A. M. K., Dec 26 2015, In : BMC Research Notes. 8, 1, 1803.

Research output: Contribution to journalArticle

7 Scopus citations

A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing

Alioto, T. S., Buchhalter, I., Derdak, S., Hutter, B., Eldridge, M. D., Hovig, E., Heisler, L. E., Beck, T. A., Simpson, J. T., Tonon, L., Sertier, A. S., Patch, A. M., Jäger, N., Ginsbach, P., Drews, R., Paramasivam, N., Kabbe, R., Chotewutmontri, S., Diessl, N., Previti, C. & 63 others, Schmidt, S., Brors, B., Feuerbach, L., Heinold, M., Gröbner, S., Korshunov, A., Tarpey, P. S., Butler, A. P., Hinton, J., Jones, D., Menzies, A., Raine, K., Shepherd, R., Stebbings, L., Teague, J. W., Ribeca, P., Giner, F. C., Beltran, S., Raineri, E., Dabad, M., Heath, S. C., Gut, M., Denroche, R. E., Harding, N. J., Yamaguchi, T. N., Fujimoto, A., Nakagawa, H., Quesada, V., Valdés-Mas, R., Nakken, S., Vodák, D., Bower, L., Lynch, A. G., Anderson, C. L., Waddell, N., Pearson, J. V., Grimmond, S. M., Peto, M., Spellman, P., He, M., Kandoth, C., Lee, S., Zhang, J., Létourneau, L., Ma, S., Seth, S., Torrents, D., Xi, L., Wheeler, D. A., López-Otín, C., Campo, E., Campbell, P. J., Boutros, P. C., Puente, X. S., Gerhard, D. S., Pfister, S. M., Mcpherson, J. D., Hudson, T. J., Schlesner, M., Lichter, P., Eils, R., Jones, D. T. W. & Gut, I. G., Dec 9 2015, In : Nature Communications. 6, 10001.

Research output: Contribution to journalArticle

138 Scopus citations

GLI2 inhibition abrogates human leukemia stem cell dormancy

Sadarangani, A., Pineda, G., Lennon, K. M., Chun, H. J., Shih, A., Schairer, A. E., Court, A. C., Goff, D. J., Prashad, S. L., Geron, I., Wall, R., Mcpherson, J. D., Moore, R. A., Pu, M., Bao, L., Jackson-Fisher, A., Munchhof, M., VanArsdale, T., Reya, T., Morris, S. R. & 6 others, Minden, M. D., Messer, K., Mikkola, H. K. A., Marra, M. A., Hudson, T. J. & Jamieson, C. H. M., Dec 12 2015, In : Journal of Translational Medicine. 13, 1, p. 1 1 p., 98.

Research output: Contribution to journalArticle

37 Scopus citations

Optimization of miRNA-seq data preprocessing

Tam, S., Tsao, M. S. & Mcpherson, J. D., Feb 6 2015, In : Briefings in Bioinformatics. 16, 6, p. 950-963 14 p., bbv019.

Research output: Contribution to journalArticle

47 Scopus citations

Spatial genomic heterogeneity within localized, multifocal prostate cancer

Boutros, P. C., Fraser, M., Harding, N. J., De Borja, R., Trudel, D., Lalonde, E., Meng, A., Hennings-Yeomans, P. H., McPherson, A., Sabelnykova, V. Y., Zia, A., Fox, N. S., Livingstone, J., Shiah, Y. J., Wang, J., Beck, T. A., Have, C. L., Chong, T., Sam, M., Johns, J. & 45 others, Timms, L., Buchner, N., Wong, A., Watson, J. D., Simmons, T. T., P'ng, C., Zafarana, G., Nguyen, F., Luo, X., Chu, K. C., Prokopec, S. D., Sykes, J., Pra, A. D., Berlin, A., Brown, A., Chan-Seng-Yue, M. A., Yousif, F., Denroche, R. E., Chong, L. C., Chen, G. M., Jung, E., Fung, C., Starmans, M. H. W., Chen, H., Govind, S. K., Hawley, J., D'Costa, A., Pintilie, M., Waggott, D., Hach, F., Lambin, P., Muthuswamy, L. B., Cooper, C., Eeles, R., Neal, D., Tetu, B., Sahinalp, C., Stein, L. D., Fleshner, N., Shah, S. P., Collins, C. C., Hudson, T. J., Mcpherson, J. D., Van Der Kwast, T. & Bristow, R. G., Jun 26 2015, In : Nature Genetics. 47, 7, p. 736-745 10 p.

Research output: Contribution to journalArticle

225 Scopus citations
2014

A defining decade in DNA sequencing

Mcpherson, J. D., Jan 1 2014, In : Nature Methods. 11, 10, p. 1003-1005 3 p.

Research output: Contribution to journalArticle

17 Scopus citations

Antioxidant supplementation reduces genomic aberrations in human induced pluripotent stem cells

Ji, J., Sharma, V., Qi, S., Guarch, M. E., Zhao, P., Luo, Z., Fan, W., Wang, Y., Mbabaali, F., Neculai, D., Esteban, M. A., Mcpherson, J. D. & Batada, N. N., Jan 14 2014, In : Stem Cell Reports. 2, 1, p. 44-51 8 p.

Research output: Contribution to journalArticle

43 Scopus citations

A two-dimensional pooling strategy for rare variant detection on next-generation sequencing platforms

Zuzarte, P. C., Denroche, R. E., Fehringer, G., Katzov-Eckert, H., Hung, R. J. & Mcpherson, J. D., Apr 11 2014, In : PLoS One. 9, 4, e93455.

Research output: Contribution to journalArticle

8 Scopus citations

Genomic support for a moa-tinamou clade and adaptive morphological convergence in flightless ratites

Baker, A. J., Haddrath, O., Mcpherson, J. D. & Cloutier, A., 2014, In : Molecular Biology and Evolution. 31, 7, p. 1686-1696 11 p.

Research output: Contribution to journalArticle

43 Scopus citations

Genomic testing in cancer: Patient knowledge, attitudes, and expectations

Blanchette, P. S., Spreafico, A., Miller, F. A., Chan, K., Bytautas, J., Kang, S., Bedard, P. L., Eisen, A., Potanina, L., Holland, J., Kamel-Reid, S., Mcpherson, J. D., Razak, A. R. & Siu, L. L., 2014, In : Cancer. 120, 19, p. 3066-3073 8 p.

Research output: Contribution to journalArticle

42 Scopus citations

Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands

Weinreb, I., Piscuoglio, S., Martelotto, L. G., Waggott, D., Ng, C. K. Y., Perez-Ordonez, B., Harding, N. J., Alfaro, J., Chu, K. C., Viale, A., Fusco, N., Da Cruz Paula, A., Marchio, C., Sakr, R. A., Lim, R., Thompson, L. D. R., Chiosea, S. I., Seethala, R. R., Skalova, A., Stelow, E. B. & 22 others, Fonseca, I., Assaad, A., How, C., Wang, J., De Borja, R., Chan-Seng-Yue, M., Howlett, C. J., Nichols, A. C., Wen, Y. H., Katabi, N., Buchner, N., Mullen, L., Kislinger, T., Wouters, B. G., Liu, F. F., Norton, L., Mcpherson, J. D., Rubin, B. P., Clarke, B. A., Weigelt, B., Boutros, P. C. & Reis-Filho, J. S., Nov 5 2014, In : Nature Genetics. 46, 11, p. 1166-1169 4 p.

Research output: Contribution to journalArticle

114 Scopus citations

Identification of genes expressed by immune cells of the colon that are regulated by colorectal cancer-associated variants

Peltekova, V. D., Lemire, M., Qazi, A. M., Zaidi, S. H. E., Trinh, Q. M., Bielecki, R., Rogers, M., Hodgson, L., Wang, M., D'Souza, D. J. A., Zandi, S., Chong, T., Kwan, J. Y. Y., Kozak, K., De Borja, R., Timms, L., Rangrej, J., Volar, M., Chan-Seng-Yue, M., Beck, T. & 12 others, Ash, C., Lee, S., Wang, J., Boutros, P. C., Stein, L. D., Dick, J. E., Gryfe, R., Mcpherson, J. D., Zanke, B. W., Pollett, A., Gallinger, S. & Hudson, T. J., May 15 2014, In : International Journal of Cancer. 134, 10, p. 2330-2341 12 p.

Research output: Contribution to journalArticle

21 Scopus citations

Identification of pre-leukaemic haematopoietic stem cells in acute leukaemia

Shlush, L. I., Zandi, S., Mitchell, A., Chen, W. C., Brandwein, J. M., Gupta, V., Kennedy, J. A., Schimmer, A. D., Schuh, A. C., Yee, K. W., McLeod, J. L., Doedens, M., Medeiros, J. J. F., Marke, R., Kim, H. J., Lee, K., Mcpherson, J. D., Hudson, T. J., Brown, A. M. K., Trinh, Q. M. & 4 others, Stein, L. D., Minden, M. D., Wang, J. C. Y. & Dick, J. E., 2014, In : Nature. 506, 7488, p. 328-333 6 p.

Research output: Contribution to journalArticle

771 Scopus citations

Next-generation sequencing identifies rare variants associated with Noonan syndrome

Chen, P. C., Yin, J., Yu, H. W., Yuan, T., Fernandez, M., Yung, C. K., Trinh, Q. M., Peltekova, V. D., Reid, J. G., Tworog-Dube, E., Morgan, M. B., Muzny, D. M., Stein, L., Mcpherson, J. D., Roberts, A. E., Gibbs, R. A., Neel, B. G. & Kucherlapati, R., Aug 5 2014, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 31, p. 11473-11478 6 p.

Research output: Contribution to journalArticle

91 Scopus citations

Robust global microRNA expression profiling using next-generation sequencing technologies

Tam, S., De Borja, R., Tsao, M. S. & Mcpherson, J. D., Mar 2014, In : Laboratory Investigation. 94, 3, p. 350-358 9 p.

Research output: Contribution to journalArticle

78 Scopus citations

SeqControl: Process control for DNA sequencing

Chong, L. C., Albuquerque, M. A., Harding, N. J., Caloian, C., Chan-Seng-Yue, M., De Borja, R., Fraser, M., Denroche, R. E., Beck, T. A., Van Der Kwast, T., Bristow, R. G., Mcpherson, J. D. & Boutros, P. C., Jan 1 2014, In : Nature Methods. 11, 10, p. 1071-1075 5 p.

Research output: Contribution to journalArticle

6 Scopus citations

ShatterProof: Operational detection and quantification of chromothripsis

Govind, S. K., Zia, A., Hennings-Yeomans, P. H., Watson, J. D., Fraser, M., Anghel, C., Wyatt, A. W., van der Kwast, T., Collins, C. C., Mcpherson, J. D., Bristow, R. G. & Boutros, P. C., Mar 19 2014, In : BMC Bioinformatics. 15, 1, 78.

Research output: Contribution to journalArticle

35 Scopus citations

Use of sequenom sample ID plus® SNP genotyping in identification of FFPE tumor samples

Miller, J. K., Buchner, N., Timms, L., Tam, S., Luo, X., Brown, A. M. K., Pasternack, D., Bristow, R. G., Fraser, M., Boutros, P. C. & Mcpherson, J. D., Feb 13 2014, In : PLoS One. 9, 2, e88163.

Research output: Contribution to journalArticle

12 Scopus citations

WaveCNV: Allele-specific copy number alterations in primary tumors and xenograft models from next-generation sequencing

Holt, C., Losic, B., Pai, D., Zhao, Z., Trinh, Q., Syam, S., Arshadi, N., Jang, G. H., Ali, J., Beck, T., Mcpherson, J. D. & Muthuswamy, L. B., Mar 2014, In : Bioinformatics. 30, 6, p. 768-774 7 p.

Research output: Contribution to journalArticle

9 Scopus citations
2013

Exome sequencing identifies nonsegregating nonsense ATM and PALB2 variants in familial pancreatic cancer

Grant, R. C., Al-Sukhni, W., Borgida, A. E., Holter, S., Kanji, Z. S., McPherson, T., Whelan, E., Serra, S., Trinh, Q. M., Peltekova, V., Stein, L. D., Mcpherson, J. D. & Gallinger, S., 2013, In : Human Genomics. 7, 1, 11.

Research output: Contribution to journalArticle

20 Scopus citations