• 3149 Citations
  • 29 Scopus h-Index
20072020

Research output per year

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Research Output

  • 3149 Citations
  • 29 Scopus h-Index
  • 69 Article
  • 4 Review article
  • 1 Conference contribution
  • 1 Comment/debate
2020

A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

LaDuca, H., Polley, E. C., Yussuf, A., Hoang, L., Gutierrez, S., Hart, S. N., Yadav, S., Hu, C., Na, J., Goldgar, D. E., Fulk, K., Smith, L. P., Horton, C., Profato, J., Pesaran, T., Gau, C. L., Pronold, M., Davis, B. T., Chao, E. C., Couch, F. J. & 1 others, Dolinsky, J. S., Feb 1 2020, In : Genetics in Medicine. 22, 2, p. 407-415 9 p.

Research output: Contribution to journalArticle

Open Access
6 Scopus citations

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort

Li, H., LaDuca, H., Pesaran, T., Chao, E. C., Dolinsky, J. S., Parsons, M., Spurdle, A. B., Polley, E. C., Shimelis, H., Hart, S. N., Hu, C., Couch, F. J. & Goldgar, D. E., Apr 1 2020, In : Genetics in Medicine. 22, 4, p. 701-708 8 p.

Research output: Contribution to journalArticle

Open Access

Evaluation of germline genetic testing criteria in a hospital-based series of women with breast cancer

Yadav, S., Hu, C., Hart, S. N., Boddicker, N., Polley, E. C., Na, J., Gnanaolivu, R., Lee, K. Y., Lindstrom, T., Armasu, S., Fitz-Gibbon, P., Ghosh, K., Stan, D. L., Pruthi, S., Neal, L., Sandhu, N. P., Rhodes, D. J., Klassen, C., Peethambaram, P. P., Haddad, T. C. & 7 others, Olson, J. E., Hoskin, T. L., Goetz, M. P., Domchek, S. M., Boughey, J. C., Ruddy, K. J. & Couch, F. J., May 1 2020, In : Journal of Clinical Oncology. 38, 13, p. 1409-1418 10 p.

Research output: Contribution to journalArticle

Open Access

Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML

Hart, S. N., Polley, E. C., Shimelis, H., Yadav, S. & Couch, F. J., Dec 1 2020, In : npj Breast Cancer. 6, 1, 13.

Research output: Contribution to journalArticle

Open Access
2019

Classification of melanocytic lesions in selected and whole-slide images via convolutional neural networks

Hart, S., Flotte, W., Norgan, A. P., Shah, K. K., Buchan, Z. R., Mounajjed, T. & Flotte, T. J., Jan 1 2019, In : Journal of Pathology Informatics. 10, 1, 5.

Research output: Contribution to journalArticle

Open Access
3 Scopus citations

Contribution of inherited DNA-repair gene mutations to hormone-sensitive and castrate-resistant metastatic prostate cancer and implications for clinical outcome

Yadav, S., Hart, S. N., Hu, C., Hillman, D., Lee, K. Y., Gnanaolivu, R., Na, J., Polley, E., Couch, F. J. & Kohli, M., Jan 1 2019, In : JCO Precision Oncology. 3

Research output: Contribution to journalArticle

Correction to: Recommendations for performance optimizations when using GATK3.8 and GATK4 (BMC Bioinformatics (2019) 20 (557) DOI: 10.1186/s12859-019-3169-7)

Heldenbrand, J. R., Baheti, S., Bockol, M. A., Drucker, T. M., Hart, S. N., Hudson, M. E., Iyer, R. K., Kalmbach, M. T., Kendig, K. I., Klee, E. W., Mattson, N. R., Wieben, E. D., Wiepert, M., Wildman, D. E. & Mainzer, L. S., Dec 17 2019, In : BMC bioinformatics. 20, 1, 722.

Research output: Contribution to journalComment/debate

Open Access

Genome-wide association study of germline variants and breast cancer-specific mortality

NBCS Collaborators, Mar 19 2019, In : British journal of cancer. 120, 6, p. 647-657 11 p.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

NBCS Collaborators, ABCTB Investigators & kConFab/AOCS Investigators, Jan 3 2019, In : American journal of human genetics. 104, 1, p. 21-34 14 p.

Research output: Contribution to journalArticle

86 Scopus citations

Recommendations for performance optimizations when using GATK3.8 and GATK4

Heldenbrand, J. R., Baheti, S., Bockol, M. A., Drucker, T. M., Hart, S. N., Hudson, M. E., Iyer, R. K., Kalmbach, M. T., Kendig, K. I., Klee, E. W., Mattson, N. R., Wieben, E. D., Wiepert, M., Wildman, D. E. & Mainzer, L. S., Nov 8 2019, In : BMC bioinformatics. 20, 1, 557.

Research output: Contribution to journalArticle

Open Access

Risk of Different Cancers Among First-degree Relatives of Pancreatic Cancer Patients: Influence of Probands' Susceptibility Gene Mutation Status

Antwi, S., Fagan, S. E., Chaffee, K. G., Bamlet, W. R., Hu, C., Polley, E., Hart, S., Shimelis, H., Lilyquist, J., Gnanaolivu, R. D., Mc Williams, R. R., Oberg, A. L., Couch, F. J. & Petersen, G. M., Mar 1 2019, In : Journal of the National Cancer Institute. 111, 3, p. 264-271 8 p.

Research output: Contribution to journalArticle

1 Scopus citations

Robust hierarchical density estimation and regression for re-stained histological whole slide image co-registration

Jiang, J., Larson, N., Prodduturi, N., Flotte, T. J. & Hart, S., Jan 1 2019, In : PloS one. 14, 7, e0220074.

Research output: Contribution to journalArticle

Open Access
1 Scopus citations

SentIeon DNaSeq variant calling workflow demonstrates strong computational performance and accuracy

Kendig, K. I., Baheti, S., Bockol, M. A., Drucker, T. M., Hart, S., Heldenbrand, J. R., Hernaez, M., Hudson, M. E., Kalmbach, M. T., Klee, E. W., Mattson, N. R., Ross, C. A., Taschuk, M., Wieben, E. D., Wiepert, M., Wildman, D. E. & Mainzer, L. S., Jan 1 2019, In : Frontiers in Genetics. 10, JUL, 736.

Research output: Contribution to journalArticle

Open Access
5 Scopus citations
2018

A prospective genome-wide study of prostate cancer metastases reveals association of wnt pathway activation and increased cell cycle proliferation with primary resistance to abiraterone acetate-prednisone

Wang, L., Dehm, S. M., Hillman, D. W., Sicotte, H., Tan, W., Gormley, M., Bhargava, V., Jimenez, R., Xie, F., Yin, P., Qin, S., Quevedo, F., Costello, B. A., Pitot, H. C., Ho, T., Bryce, A. H., Ye, Z., Li, Y., Eiken, P., Vedell, P. T. & 16 others, Barman, P., McMenomy, B. P., Atwell, T. D., Carlson, R. E., Ellingson, M., Eckloff, B. W., Qin, R., Ou, F., Hart, S. N., Huang, H., Jen, J., Wieben, E. D., Kalari, K. R., Weinshilboum, R. M., Wang, L. & Kohli, M., Feb 1 2018, In : Annals of Oncology. 29, 2, p. 352-360 9 p.

Research output: Contribution to journalArticle

21 Scopus citations

Association between inherited germline mutations in cancer predisposition genes and risk of pancreatic cancer

Hu, C., Hart, S., Polley, E., Gnanaolivu, R., Shimelis, H., Lee, K. Y., Lilyquist, J., Na, J., Moore, R., Antwi, S., Bamlet, W. R., Chaffee, K. G., DiCarlo, J., Wu, Z., Samara, R., Kasi, P. M., Mc Williams, R. R., Petersen, G. M. & Couch, F. J., Jun 19 2018, In : JAMA - Journal of the American Medical Association. 319, 23, p. 2401-2409 9 p.

Research output: Contribution to journalArticle

79 Scopus citations

BRCA1/2 Mutations and bevacizumab in the neoadjuvant treatment of breast cancer: Response and prognosis results in patients with triple-negative breast cancer From the geparquinto study

Fasching, P. A., Loibl, S., Hu, C., Hart, S. N., Shimelis, H., Moore, R., Schem, C., Tesch, H., Untch, M., Hilfrich, J., Rezai, M., Gerber, B., Costa, S. D., Blohmer, J. U., Fehm, T., Huober, J., Liedtke, C., Weinshilboum, R. M., Wang, L., Ingle, J. N. & 7 others, Müller, V., Nekljudova, V., Weber, K. E., Rack, B., Rübner, M., Von Minckwitz, G. & Couch, F. J., Aug 1 2018, In : Journal of Clinical Oncology. 36, 22, p. 2281-2287 7 p.

Research output: Contribution to journalArticle

29 Scopus citations

Cancer susceptibility gene mutations in type I and II endometrial cancer

Long, B., Lilyquist, J., Weaver, A., Hu, C., Gnanaolivu, R., Lee, K. Y., Hart, S., Polley, E., Bakkum-Gamez, J. N., Couch, F. J. & Dowdy, S. C., Jan 1 2018, (Accepted/In press) In : Gynecologic Oncology.

Research output: Contribution to journalArticle

5 Scopus citations

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models

Hart, S., Hoskin, T., Shimelis, H., Moore, R. M., Feng, B., Thomas, A., Lindor, N. M., Polley, E., Goldgar, D. E., Iversen, E., Monteiro, A. N. A., Suman, V. J. & Couch, F. J., Jun 8 2018, (Accepted/In press) In : Genetics in Medicine. p. 1-10 10 p.

Research output: Contribution to journalArticle

12 Scopus citations

Multigene hereditary cancer panels reveal high-risk pancreatic cancer susceptibility genes

Hu, C., LaDuca, H., Shimelis, H., Polley, E. C., Lilyquist, J., Hart, S. N., Na, J., Thomas, A., Lee, K. Y., Davis, B. T., Black, M. H., Pesaran, T., Goldgar, D. E., Dolinsky, J. S. & Couch, F. J., Jan 1 2018, In : JCO Precision Oncology. 2, p. 1-28 28 p.

Research output: Contribution to journalArticle

Open Access
7 Scopus citations

Triple-negative breast cancer risk genes identified by multigene hereditary cancer panel testing

Shimelis, H., LaDuca, H., Hu, C., Hart, S. N., Na, J., Thomas, A., Akinhanmi, M., Moore, R. M., Brauch, H., Cox, A., Eccles, D. M., Ewart-Toland, A., Fasching, P. A., Fostira, F., Garber, J., Godwin, A. K., Konstantopoulou, I., Nevanlinna, H., Sharma, P., Yannoukakos, D. & 9 others, Yao, S., Feng, B. J., Davis, B. T., Lilyquist, J., Pesaran, T., Goldgar, D. E., Polley, E. C., Dolinsky, J. S. & Couch, F. J., Jan 1 2018, In : Journal of the National Cancer Institute. 110, 8, p. 855-862 8 p.

Research output: Contribution to journalArticle

60 Scopus citations

Will digital pathology be as disruptive as genomics?

Hart, S. N., Jan 1 2018, In : Journal of Pathology Informatics. 9, 1, 27.

Research output: Contribution to journalReview article

1 Scopus citations
2017

Association analysis identifies 65 new breast cancer risk loci

NBCS Collaborators, ABCTB Investigators & kConFab/AOCS Investigators, Nov 2 2017, In : Nature. 551, 7678, p. 92-94 3 p.

Research output: Contribution to journalArticle

273 Scopus citations

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3

KConFab investigators, HEBON, GEMO Study Collaborators & EMBRACE, Jan 1 2017, In : Breast Cancer Research and Treatment. 161, 1, p. 117-134 18 p.

Research output: Contribution to journalArticle

9 Scopus citations

Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer

Couch, F. J., Shimelis, H., Hu, C., Hart, S., Polley, E., Na, J., Hallberg, E., Moore, R., Thomas, A., Lilyquist, J., Feng, B., McFarland, R., Pesaran, T., Huether, R., LaDuca, H., Chao, E. C., Goldgar, D. E. & Dolinsky, J. S., Sep 1 2017, In : JAMA oncology. 3, 9, p. 1190-1196 7 p.

Research output: Contribution to journalArticle

192 Scopus citations

Empowering Mayo Clinic individualized medicine with genomic data warehousing

Horton, I., Lin, Y., Reed, G., Wiepert, M. & Hart, S., Sep 1 2017, In : Journal of Personalized Medicine. 7, 3, 7.

Research output: Contribution to journalReview article

4 Scopus citations

Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls

Lilyquist, J., LaDuca, H., Polley, E., Davis, B. T., Shimelis, H., Hu, C., Hart, S., Dolinsky, J. S., Couch, F. J. & Goldgar, D. E., Nov 1 2017, In : Gynecologic Oncology. 147, 2, p. 375-380 6 p.

Research output: Contribution to journalArticle

40 Scopus citations

Harnessing big data for precision medicine: Infrastructures and applications

Yu, K. H., Hart, S., Goldfeder, R., Zhang, Q. C., Parker, S. C. J. & Snyder, M., Jan 1 2017, PACIFIC SYMPOSIUM ON BIOCOMPUTING 2017. Altman, R. B., Murray, T., Klein, T. E., Dunker, A. K., Ritchie, M. D. & Hunter, L. (eds.). 212679 ed. World Scientific Publishing Co. Pte Ltd, p. 635-639 5 p.

Research output: Chapter in Book/Report/Conference proceedingConference contribution

2 Scopus citations

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

Milne, R. L., Kuchenbaecker, K. B., Michailidou, K., Beesley, J., Kar, S., Lindström, S., Hui, S., Lemaçon, A., Soucy, P., Dennis, J., Jiang, X., Rostamianfar, A., Finucane, H., Bolla, M. K., McGuffog, L., Wang, Q., Aalfs, C. M., Abctctb, I., Adams, M., Adlard, J. & 461 others, Agata, S., Ahmed, S., Ahsan, H., Aittom, K. Ä., Fares, A. E., Allen, J., Ambrosone, C. B., Amos, C. I., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Arnold, N., Aronson, K. J., Auber, B., Auer, P. L., Ausems, M. G. M., Azzollini, J., François, B., Balma, J. N., Barile, M., Barjhoux, L., Barkardottir, R. B., Barrdahl, M., Barnes, D., Barrowdale, D., Baynes, C., Beckmann, M. W., Benitez, J., Bermisheva, M., Bernstein, L., Bignon, Y. J., Blazer, K. R., Blok, M. J., Blomqvist, C., Blot, W., Bobolis, K., Boeckx, B., Bogdanova, N. V., Bojesen, A., Bojesen, S. E., Bonanni, B., Anne-Lise, B. D., Bozsik, A., Bradbury, A. R., Brand, J. S., Brauch, H., Brenner, H., Brigitte, B. D. P., Brewer, C., Brinton, L., Broberg, P., Angela, B. W., Brunet, J., Brüning, T., Burwinkel, B., Buys, S. S., Byun, J., Cai, Q., Cald, T. É., Caligo, M. A., Campbell, I., Canzian, F., Caron, O., Carracedo, A., Carter, B. D., Esteban, C., Castera, L., Virginie, C. M., Chan, S. B., Jenny, C. C., Chanock, S. J., Chen, X., Cheng, T. Y. D., Chiquette, J., Christiansen, H., Claes, K. B., Clarke, C. L., Conner, T., Conroy, D. M., Cook, J., Cordina-Duverger, E., Cornelissen, S., Coupier, I., Cox, A., Cox, D. G., Cross, S. S., Cuk, K., Cunningham, J. M., Czene, K., Daly, M. B., Damiola, F., Darabi, H., Davidson, R., Leeneer, K. D. L., Devilee, P., Dicks, E., Diez, O., Ding, Y. C., Ditsch, N., Doheny, K. F., Domchek, S. M., Dorfling, C. M., Dörk, T., Dos-Santos-Silva, I., Dubois, S., Dugué, P. A., Dumont, M., Dunning, A. M., Durcan, L., Dwek, M., Dworniczak, B., Eccles, D., Eeles, R., Ehrencrona, H., Eilber, U., Ejlertsen, B., Ekici, A. B., Eliassen, A. H., Engel, C., Eriksson, M., Fachal, L., Faivre, L., Fasching, P. A., Faust, U., Figueroa, J., Flesch-Janys, D., Fletcher, O., Flyger, H., Foulkes, W. D., Friedman, E., Fritschi, L., Frost, D., Gabrielson, M., Gaddam, P., Gammon, M. D., Ganz, P. A., Gapstur, S. M., Garber, J., Garcia-Barberan, V., Garciá-Saénz, J. A., Gaudet, M. M., Gauthier-Villars, M., Gehrig, A., Georgoulias, V., Gerdes, A. M., Giles, G. G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Goodfellow, P., Greene, M. H., Grenaker, G. A. I., Grip, M., Gronwald, J., Grundy, A., Gschwantler, D. K., Guénel, P., Guo, Q., Haeberle, L., Hahnen, E., Haiman, C. A., Håkansson, N., Hallberg, E., Hamann, U., Hamel, N., Hankinson, S., Hansen, T. V., Harrington, P., Hart, S. N., Hartikainen, J. M., Healey, C. S., Hein, A., Helbig, S., Henderson, A., Heyworth, J., Hicks, B., Hillemanns, P., Hodgson, S., Hogervorst, F. B., Hollestelle, A., Hooning, M. J., Hoover, B., Hopper, J. L., Hu, C., Huang, G., Hulick, P. J., Humphreys, K., Hunter, D. J., Imyanitov, E. N., Isaacs, C., Iwasaki, M., Izatt, L., Jakubowska, A., James, P., Janavicius, R., Janni, W., Jensen, U. B., John, E. M., Johnson, N., Jones, K., Jones, M., Jukkola-Vuorinen, A., Kaaks, R., Kabisch, M., Kaczmarek, K., Kang, D., Kast, K., Keeman, R., Kerin, M. J., Kets, C. M., Keupers, M. H., Khan, S., Khusnutdinova, E., Kiiski, J. I., Kim, S. W., Knight, J. A., Konstantopoulou, I., Kosma, V. M., Kristensen, V. N., Kruse, T. A., Kwong, A., Lænkholm, A. V., Laitman, Y., Lalloo, F., Lambrechts, D., Landsman, K., Lasset, C., Lazaro, C., Marchand, L. L., Al-Ejeh, F., Margreet, G. M. A., Bacot, F., Børresen-Dale, A. L., Bressac-De, B. P., Brooks-Wilson, A., Castelao, J. E., Caux-Moncoutier, V., Chang-Claude, J., McLaes, K. B., Dieter, F. J., Gschwantler-Kaulich, D., Lecarpentier, J., Lee, A., Lee, E., Won, J. L., Lee, M. H., Lejbkowicz, F., Lesueur, F., Li, J., Lilyquist, J., Lincoln, A., Lindblom, A., Lissowska, J., Lo, W. Y., Loibl, S., Long, J., Loud, J. T., Lubinski, J., Luccarini, C., Lush, M., MacInnis, R. J., Maishman, T., Makalic, E., Kostovska, I. M., Malone, K. E., Siranoush, M., Manson, J. E., Margolin, S., Martens, J. W., Martinez, M. E., Matsuo, K., Mavroudis, D., Mazoyer, S., McLean, C., Meijers-Heijboer, H., Menéndez, P., Meyer, J., Miao, H., Miller, N., Mitchell, G., Montagna, M., Muir, K., Mulligan, A. M., Mulot, C., Nadesan, S., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nevelsteen, I., Niederacher, D., Nielsen, S. F., Nordestgaard, B. G., Norman, A., Nussbaum, R. L., Olah, E., Olopade, O. I., Olson, J. E., Olswold, C., Ong, K. R., Oosterwijk, J. C., Orr, N., Osorio, A., Pankratz, V. S., Papi, L., Park-Simon, T. W., Paulsson-Karlsson, Y., Lloyd, R., Pedersen, I. S., Peissel, B., Peixoto, A., Perez, J. I., Peterlongo, P., Peto, J., Pfeiler, G., Phelan, C. M., Pinchev, M., Plaseska-Karanfilska, D., Poppe, B., Porteous, M. E., Prentice, R., Presneau, N., Prokofieva, D., Pugh, E., Pujana, M. A., Pylkäs, K., Rack, B., Radice, P., Rahman, N., Rantala, J., Rappaport-Fuerhauser, C., Rennert, G., Rennert, H. S., Rhenius, V., Rhiem, K., Richardson, A., Rodriguez, G. C., Romero, A., Romm, J., Rookus, M. A., Rudolph, A., Ruediger, T., Saloustros, E., Sanders, J., Sandler, D. P., Sangrajrang, S., Sawyer, E. J., Schmidt, D. F., Schoemaker, M. J., Schumacher, F., Schürmann, P., Schwentner, L., Scott, C., Scott, R. J., Seal, S., Senter, L., Seynaeve, C., Shah, M., Sharma, P., Shen, C. Y., Sheng, X., Shimelis, H., Shrubsole, M. J., Shu, X. O., Side, L. E., Singer, C. F., Sohn, C., Southey, M. C., Spinelli, J. J., Spurdle, A. B., Stegmaier, C., Stoppa-Lyonnet, D., Sukiennicki, G., Surowy, H., Sutter, C., Swerdlow, A., Szabo, C. I., Tamimi, R. M., Tan, Y. Y., Taylor, J. A., Tejada, M. I., Tengström, M., Teo, S. H., Terry, M. B., Tessier, D. C., Teul, A. E., Thöne, K., Thull, D. L., Tibiletti, M. G., Tihomirova, L., Tischkowitz, M., Toland, A. E., Tollenaar, R. A. M., Tomlinson, I., Tong, L., Torres, D., Tranchant, M., Truong, T., Tucker, K., Tung, N., Tyrer, J., Ulmer, H. U., Vachon, C., Christi, V. A. J., Den Berg, D. V., Ouweland, A. M. V., Van Rensburg, E. J., Varesco, L., Varon-Mateeva, R., Vega, A., Viel, A., Vijai, J., Vincent, D., Vollenweider, J., Walker, L., Wang, Z., Wang-Gohrke, S., Wappenschmidt, B., Weinberg, C. R., Weitzel, J. N., Wendt, C., Wesseling, J., Whittemore, A. S., Wijnen, J. T., Willett, W., Winqvist, R., Wolk, A., Wu, A. H., Xia, L., Yang, X. R., Yannoukakos, D., Zaffaroni, D., Zheng, W., Zhu, B., Ziogas, A., Ziv, E., Zorn, K. K., Gago-Dominguez, M., Mannermaa, A., Olsson, H., Teixeira, M. R., Stone, J., Offit, K., Ottini, L., Park, S. K., Thomassen, M., Hall, P., Meindl, A., Schmutzler, R. K., Droit, A., Bader, G. D., Pharoah, P. D., Couch, F. J., Easton, D. F., Kraft, P., Chenevix-Trench, G., Garciá-Closas, M., Antoniou, A. C. & Simard, J., Dec 1 2017, In : Nature Genetics. 49, 12, p. 1767-1778 12 p.

Research output: Contribution to journalArticle

78 Scopus citations
2016

A recurrent ERCC3 truncating mutation confers moderate risk for breast cancer

Vijai, J., Topka, S., Villano, D., Ravichandran, V., Maxwell, K. N., Maria, A., Thomas, T., Gaddam, P., Lincoln, A., Kazzaz, S., Wenz, B., Carmi, S., Schrader, K. A., Hart, S. N., Lipkin, S. M., Neuhausen, S. L., Walsh, M. F., Zhang, L., Lejbkowicz, F., Rennert, H. & 10 others, Stadler, Z. K., Robson, M., Weitzel, J. N., Domchek, S., Daly, M. J., Couch, F. J., Nathanson, K. L., Norton, L., Rennert, G. & Offit, K., Nov 2016, In : Cancer discovery. 6, 11, p. 1267-1275 9 p.

Research output: Contribution to journalArticle

17 Scopus citations

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

Australia Ovarian Cancer Study Group, EMBRACE, OCGN, PRostate cancer Asso Ciation group To Investigate Cancer Associated aLterations in the genome, GEMO Study Collaborators & HEBON, Feb 1 2016, In : Journal of the National Cancer Institute. 108, 2

Research output: Contribution to journalArticle

49 Scopus citations

Collaborative science in the next-generation sequencing era: A viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes

Hart, S., Maxwell, K. N., Thomas, T., Ravichandran, V., Wubberhorst, B., Klein, R. J., Schrader, K., Szabo, C., Weitzel, J. N., Neuhausen, S. L., Nathanson, K., Offit, K., Couch, F. J. & Vijai, J., Jul 1 2016, In : Briefings in Bioinformatics. 17, 4, p. 672-677 6 p., bbv075.

Research output: Contribution to journalArticle

2 Scopus citations

Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer

Hart, S., Ellingson, M. S., Schahl, K., Vedell, P. T., Carlson, R. E., Sinnwell, J. P., Barman, P., Sicotte, H., Eckel-Passow, J. E., Wang, L., Kalari, K. R., Qin, R., Kruisselbrink, T. M., Jimenez, R. E., Bryce, A. H., Tan, W., Weinshilboum, R. M., Wang, L. M. & Kohli, M., 2016, In : BMJ Open. 6, 4, e010332.

Research output: Contribution to journalArticle

16 Scopus citations

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer

Maxwell, K. N., Hart, S. N., Vijai, J., Schrader, K. A., Slavin, T. P., Thomas, T., Wubbenhorst, B., Ravichandran, V., Moore, R. M., Hu, C., Guidugli, L., Wenz, B., Domchek, S. M., Robson, M. E., Szabo, C., Neuhausen, S. L., Weitzel, J. N., Offit, K., Couch, F. J. & Nathanson, K. L., May 5 2016, In : American journal of human genetics. 98, 5, p. 801-817 17 p.

Research output: Contribution to journalArticle

54 Scopus citations

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Couch, F. J., Kuchenbaecker, K. B., Michailidou, K., Mendoza-Fandino, G. A., Nord, S., Lilyquist, J., Olswold, C., Hallberg, E., Agata, S., Ahsan, H., Aittomäki, K., Ambrosone, C., Andrulis, I. L., Anton-Culver, H., Arndt, V., Arun, B. K., Arver, B., Barile, M., Barkardottir, R. B., Barrowdale, D. & 229 others, Beckmann, L., Beckmann, M. W., Benitez, J., Blank, S. V., Blomqvist, C., Bogdanova, N. V., Bojesen, S. E., Bolla, M. K., Bonanni, B., Brauch, H., Brenner, H., Burwinkel, B., Buys, S. S., Caldes, T., Caligo, M. A., Canzian, F., Carpenter, J., Chang-Claude, J., Chanock, S. J., Chung, W. K., Claes, K. B. M., Cox, A., Cross, S. S., Cunningham, J. M., Czene, K., Daly, M. B., Damiola, F., Darabi, H., De La Hoya, M., Devilee, P., Diez, O., Ding, Y. C., Dolcetti, R., Domchek, S. M., Dorfling, C. M., Dos-Santos-Silva, I., Dumont, M., Dunning, A. M., Eccles, D. M., Ehrencrona, H., Ekici, A. B., Eliassen, H., Ellis, S., Fasching, P. A., Figueroa, J., Flesch-Janys, D., Försti, A., Fostira, F., Foulkes, W. D., Friebel, T., Friedman, E., Frost, D., Gabrielson, M., Gammon, M. D., Ganz, P. A., Gapstur, S. M., Garber, J., Gaudet, M. M., Gayther, S. A., Gerdes, A. M., Ghoussaini, M., Giles, G. G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., González-Neira, A., Greene, M. H., Gronwald, J., Guénel, P., Gunter, M., Haeberle, L., Haiman, C. A., Hamann, U., Hansen, T. V. O., Hart, S., Healey, S., Heikkinen, T., Henderson, B. E., Herzog, J., Hogervorst, F. B. L., Hollestelle, A., Hooning, M. J., Hoover, R. N., Hopper, J. L., Humphreys, K., Hunter, D. J., Huzarski, T., Imyanitov, E. N., Isaacs, C., Jakubowska, A., James, P., Janavicius, R., Jensen, U. B., John, E. M., Jones, M., Kabisch, M., Kar, S., Karlan, B. Y., Khan, S., Khaw, K. T., Kibriya, M. G., Knight, J. A., Ko, Y. D., Konstantopoulou, I., Kosma, V. M., Kristensen, V., Kwong, A., Laitman, Y., Lambrechts, D., Lazaro, C., Lee, E., Le Marchand, L., Lester, J., Lindblom, A., Lindor, N., Lindstrom, S., Liu, J., Long, J., Lubinski, J., Mai, P. L., Makalic, E., Malone, K. E., Mannermaa, A., Manoukian, S., Margolin, S., Marme, F., Martens, J. W. M., Mcguffog, L., Meindl, A., Miller, A., Milne, R. L., Miron, P., Montagna, M., Mazoyer, S., Mulligan, A. M., Muranen, T. A., Nathanson, K. L., Neuhausen, S. L., Nevanlinna, H., Nordestgaard, B. G., Nussbaum, R. L., Offit, K., Olah, E., Olopade, O. I., Olson, J. E., Osorio, A., Park, S. K., Peeters, P. H., Peissel, B., Peterlongo, P., Peto, J., Phelan, C. M., Pilarski, R., Poppe, B., Pylkäs, K., Radice, P., Rahman, N., Rantala, J., Rappaport, C., Rennert, G., Richardson, A., Robson, M., Romieu, I., Rudolph, A., Rutgers, E. J., Sanchez, M. J., Santella, R. M., Sawyer, E. J., Schmidt, D. F., Schmidt, M. K., Schmutzler, R. K., Schumacher, F., Scott, R., Senter, L., Sharma, P., Simard, J., Singer, C. F., Sinilnikova, O. M., Soucy, P., Southey, M., Steinemann, D., Stenmark-Askmalm, M., Stoppa-Lyonnet, D., Swerdlow, A., Szabo, C. I., Tamimi, R., Tapper, W., Teixeira, M. R., Teo, S. H., Terry, M. B., Thomassen, M., Thompson, D., Tihomirova, L., Toland, A. E., Tollenaar, R. A. E. M., Tomlinson, I., Truong, T., Tsimiklis, H., Teulé, A., Tumino, R., Tung, N., Turnbull, C., Ursin, G., Van Deurzen, C. H. M., Van Rensburg, E. J., Varon-Mateeva, R., Wang, Z., Wang-Gohrke, S., Weiderpass, E., Weitzel, J. N., Whittemore, A., Wildiers, H., Winqvist, R., Yang, X. R., Yannoukakos, D., Yao, S., Zamora, M. P., Zheng, W., Hall, P., Kraft, P., Vachon, C., Slager, S., Chenevix-Trench, G., Pharoah, P. D. P., Monteiro, A. A. N., García-Closas, M., Easton, D. F. & Antoniou, A. C., Apr 27 2016, In : Nature communications. 7, 11375.

Research output: Contribution to journalArticle

41 Scopus citations

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

on behalf of HEBON, on behalf of KConFab, AOCS Investigators, on behalf of EMBRACE & behalf of GEMO Study Collaborators, Jun 21 2016, In : Breast Cancer Research. 18, 1, 64.

Research output: Contribution to journalArticle

14 Scopus citations

Integrated genomic analysis of pancreatic ductal adenocarcinomas reveals genomic rearrangement events as significant drivers of disease

Murphy, S. J., Hart, S., Halling, G. C., Johnson, S. H., Smadbeck, J., Drucker, T., Lima, J. F., Rohakhtar, F. R., Harris, F. R., Kosari, F., Subramanian, S., Petersen, G. M., Wiltshire, T. D., Kipp, B. R., Truty, M., Mc Williams, R. R., Couch, F. J. & Vasmatzis, G., Feb 1 2016, In : Cancer Research. 76, 3, p. 749-761 13 p.

Research output: Contribution to journalArticle

15 Scopus citations

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: Implications for gene panel testing

Australian Ovarian Cancer Study Group, KConFab investigators, Lifepool Investigators & NBCS Investigators, Feb 26 2016, In : Journal of medical genetics. 53, 5, p. 298-309 12 p.

Research output: Contribution to journalArticle

58 Scopus citations

Novel patient-derived xenograft mouse model for pancreatic acinar cell carcinoma demonstrates single agent activity of oxaliplatin

Hall, J. C., Marlow, L. A., Mathias, A. C., Dawson, L. K., Durham, W. F., Meshaw, K. A., Mullin, R. J., Synnott, A. J., Small, D. L., Krishna, M., Hoff, D., Schüler, J., Hart, S. N., Couch, F. J., Colon-Otero, G. & Copland, J. A., May 10 2016, In : Journal of Translational Medicine. 14, 1, 129.

Research output: Contribution to journalArticle

6 Scopus citations

Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium

Muranen, T. A., Blomqvist, C., Dörk, T., Jakubowska, A., Heikkilä, P., Fagerholm, R., Greco, D., Aittomäki, K., Bojesen, S. E., Shah, M., Dunning, A. M., Rhenius, V., Hall, P., Czene, K., Brand, J. S., Darabi, H., Chang-Claude, J., Rudolph, A., Nordestgaard, B. G., Couch, F. J. & 24 others, Hart, S. N., Figueroa, J., García-Closas, M., Fasching, P. A., Beckmann, M. W., Li, J., Liu, J., Andrulis, I. L., Winqvist, R., Pylkäs, K., Mannermaa, A., Kataja, V., Lindblom, A., Margolin, S., Lubinski, J., Dubrowinskaja, N., Bolla, M. K., Dennis, J., Michailidou, K., Wang, Q., Easton, D. F., Pharoah, P. D. P., Schmidt, M. K. & Nevanlinna, H., Oct 3 2016, In : Breast Cancer Research. 18, 1, 98.

Research output: Contribution to journalArticle

14 Scopus citations

Prevalence of pathogenic mutations in cancer predisposition genes among pancreatic cancer patients

Hu, C., Hart, S., Bamlet, W. R., Moore, R. M., Nandakumar, K., Eckloff, B. W., Lee, Y. K., Petersen, G. M., Mc Williams, R. R. & Couch, F. J., Jan 1 2016, In : Cancer Epidemiology Biomarkers and Prevention. 25, 1, p. 207-211 5 p.

Research output: Contribution to journalArticle

62 Scopus citations

Rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk

Liu, J., Loncar, I., Colleé, J. M., Bolla, M. K., Dennis, J., Michailidou, K., Wang, Q., Andrulis, I. L., Barile, M., Beckmann, M. W., Behrens, S., Benitez, J., Blomqvist, C., Boeckx, B., Bogdanova, N. V., Bojesen, S. E., Brauch, H., Brennan, P., Brenner, H., Broeks, A. & 79 others, Burwinkel, B., Chang-Claude, J., Chen, S. T., Chenevix-Trench, G., Cheng, C. Y., Choi, J. Y., Couch, F. J., Cox, A., Cross, S. S., Cuk, K., Czene, K., Dörk, T., Dos-Santos-Silva, I., Fasching, P. A., Figueroa, J., Flyger, H., Garciá-Closas, M., Giles, G. G., Glendon, G., Goldberg, M. S., González-Neira, A., Guénel, P., Haiman, C. A., Hamann, U., Hart, S. N., Hartman, M., Hatse, S., Hopper, J. L., Ito, H., Jakubowska, A., Kabisch, M., Kang, D., Kosma, V. M., Kristensen, V. N., Le Marchand, L., Lee, E., Li, J., Lophatananon, A., Lubinski, J., Mannermaa, A., Matsuo, K., Milne, R. L., Neuhausen, S. L., Nevanlinna, H., Orr, N., Perez, J. I. A., Peto, J., Putti, T. C., Pylkäs, K., Radice, P., Sangrajrang, S., Sawyer, E. J., Schmidt, M. K., Schneeweiss, A., Shen, C. Y., Shrubsole, M. J., Shu, X. O., Simard, J., Southey, M. C., Swerdlow, A., Teo, S. H., Tessier, D. C., Thanasitthichai, S., Tomlinson, I., Torres, D., Truong, T., Tseng, C. C., Vachon, C., Winqvist, R., Wu, A. H., Yannoukakos, D., Zheng, W., Hall, P., Dunning, A. M., Easton, D. F., Hooning, M. J., Van Den Ouweland, A. M. W., Martens, J. W. M. & Hollestelle, A., Nov 15 2016, In : Scientific reports. 6, 36874.

Research output: Contribution to journalArticle

1 Scopus citations

VCF-Miner: GUI-based application for mining variants and annotations stored in VCF files

Hart, S., Duffy, P., Quest, D. J., Hossain, A., Meiners, M. A. & Kocher, J-P., Mar 1 2016, In : Briefings in Bioinformatics. 17, 2, p. 346-351 6 p., bbv051.

Research output: Contribution to journalArticle

24 Scopus citations
2015

Bioinformatics for clinical next generation sequencing

Oliver, G. R., Hart, S. N. & Klee, E. W., Jan 1 2015, In : Clinical chemistry. 61, 1, p. 124-135 12 p.

Research output: Contribution to journalReview article

43 Scopus citations

Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy

Ellingson, M. S., Hart, S. N., Kalari, K. R., Suman, V., Schahl, K. A., Dockter, T. J., Felten, S. J., Sinnwell, J. P., Thompson, K. J., Tang, X., Vedell, P. T., Barman, P., Sicotte, H., Eckel-Passow, J. E., Northfelt, D. W., Gray, R. J., McLaughlin, S. A., Moreno-Aspitia, A., Ingle, J. N., Moyer, A. M. & 9 others, Visscher, D. W., Jones, K., Conners, A., McDonough, M., Wieben, E. D., Wang, L., Weinshilboum, R., Boughey, J. C. & Goetz, M. P., Sep 7 2015, In : Breast Cancer Research and Treatment. 153, 2, p. 435-443 9 p.

Research output: Contribution to journalArticle

11 Scopus citations

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer

Couch, F. J., Hart, S. N., Sharma, P., Toland, A. E., Wang, X., Miron, P., Olson, J. E., Godwin, A. K., Pankratz, V. S., Olswold, C., Slettedahl, S., Hallberg, E., Guidugli, L., Davila, J., Beckmann, M. W., Janni, W., Rack, B., Ekici, A. B., Slamon, D. J., Konstantopoulou, I. & 21 others, Fostira, F., Vratimos, A., Fountzilas, G., Pelttari, L. M., Tapper, W. J., Durcan, L., Cross, S. S., Pilarski, R., Shapiro, C. L., Klemp, J., Yao, S., Garber, J., Cox, A., Brauch, H., Ambrosone, C., Nevanlinna, H., Yannoukakos, D., Slager, S. L., Vachon, C. M., Eccles, D. M. & Fasching, P. A., Feb 1 2015, In : Journal of Clinical Oncology. 33, 4, p. 304-311 8 p.

Research output: Contribution to journalArticle

304 Scopus citations

Mutational landscapes of sequential prostate metastases and matched patient derived xenografts during enzalutamide therapy

Kohli, M., Wang, L., Xie, F., Sicotte, H., Yin, P., Dehm, S. M., Hart, S. N., Vedell, P. T., Barman, P., Qin, R., Mahoney, D. W., Carlson, R. E., Eckel-Passow, J. E., Atwell, T. D., Eiken, P. W., Mcmenomy, B. P., Wieben, E. D., Jha, G., Jimenez, R. E., Weinshilboum, R. & 1 others, Wang, L., Dec 1 2015, In : PloS one. 10, 12, 0145176.

Research output: Contribution to journalArticle

11 Scopus citations

PANDA: Pathway and annotation explorer for visualizing and interpreting gene-centric data

Hart, S., Moore, R. M., Zimmermann, M. T., Oliver, G. R., Egan, J. B., Bryce, A. H. & Kocher, J-P., 2015, In : PeerJ. 2015, 5, e970.

Research output: Contribution to journalArticle

3 Scopus citations

TP53 mutations, tetraploidy and homologous recombination repair defects in early stage high-grade serous ovarian cancer

Chien, J., Sicotte, H., Fan, J. B., Humphray, S., Cunningham, J. M., Kalli, K. R., Oberg, A. L., Hart, S. N., Li, Y., Davila, J. I., Baheti, S., Wang, C., Dietmann, S., Atkinson, E. J., Asmann, Y. W., Bell, D. A., Ota, T., Tarabishy, Y., Kuang, R., Bibikova, M. & 10 others, Cheetham, R. K., Grocock, R. J., Swisher, E. M., Peden, J., Bentley, D., Kocher, J. P. A., Kaufmann, S. H., Hartmann, L. C., Shridhar, V. & Goode, E. L., Feb 2 2015, In : Nucleic acids research. 43, 14, p. 6945-6958 14 p.

Research output: Contribution to journalArticle

23 Scopus citations

Transcriptomic and Immunohistochemical Profiling of SLC6A14 in Pancreatic Ductal Adenocarcinoma

Penheiter, A. R., Erdogan, S., Murphy, S. J., Hart, S., Felipe Lima, J., Rakhshan Rohakhtar, F., O'Brien, D. R., Bamlet, W. R., Wuertz, R. E., Smyrk, T. C., Couch, F. J., Vasmatzis, G., Bender, C. E. & Carlson, S. K., 2015, In : BioMed Research International. 2015, 593572.

Research output: Contribution to journalArticle

13 Scopus citations
2014

Activation of TAK1 by MYD88 L265P drives malignant B-cell growth in non-Hodgkin lymphoma

Ansell, S. M., Hodge, L. S., Secreto, F. J., Manske, M., Braggio, E., Price-Troska, T., Ziesmer, S., Li, Y., Johnson, S. H., Hart, S. N., Kocher, J. P. A., Vasmatzis, G., Chanan-Kahn, A., Gertz, M., Fonseca, R., Dogan, A., Cerhan, J. R. & Novak, A. J., Feb 2014, In : Blood cancer journal. 4, 2, 20144.

Research output: Contribution to journalArticle

50 Scopus citations