• 2476 Citations
  • 28 Scopus h-Index
20072019
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Research Output 2007 2019

  • 2476 Citations
  • 28 Scopus h-Index
  • 64 Article
  • 3 Review article
  • 1 Conference contribution
2019

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., Yussuf, A., Hoang, L., Gutierrez, S., Hart, S., 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., Jan 1 2019, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Open Access
Neoplasm Genes
Genetic Testing
Hereditary Nonpolyposis Colorectal Neoplasms
Neoplasms
Melanoma

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
Pathology
Neural networks
Artificial Intelligence
Intelligence
Artificial intelligence
1 Citation (Scopus)

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
Genome-Wide Association Study
Breast Neoplasms
Mortality
Meta-Analysis
Long Noncoding RNA
30 Citations (Scopus)

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

Breast Neoplasms
Estrogen Receptors
Prospective Studies
Single Nucleotide Polymorphism
Genome
1 Citation (Scopus)

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

Pancreatic Neoplasms
Mutation
Genes
Confidence Intervals
Neoplasms

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
Image registration
Coloring Agents
dyes
Pathology
Benchmarking

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
Workflow
Genome
Software
2018
11 Citations (Scopus)

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. E., Xie, F., Yin, P., Qin, S., Quevedo, F., Costello, B., Pitot, H. C., Ho, T. H., 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., 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

Wnt Signaling Pathway
Prednisone
Prostatic Neoplasms
Cell Cycle
Cell Proliferation
43 Citations (Scopus)

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

Germ-Line Mutation
Neoplasm Genes
Pancreatic Neoplasms
Odds Ratio
Exome
20 Citations (Scopus)

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., 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. M., 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

Triple Negative Breast Neoplasms
Neoadjuvant Therapy
Breast Neoplasms
Mutation
Disease-Free Survival
3 Citations (Scopus)

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

Neoplasm Genes
Endometrial Neoplasms
Mutation
Uterine Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms
2 Citations (Scopus)

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

Politics
Computer Simulation
Area Under Curve
BRCA2 Protein
Confidence Intervals
31 Citations (Scopus)

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

Shimelis, H., LaDuca, H., Hu, C., Hart, S., 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., 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

Triple Negative Breast Neoplasms
Neoplasm Genes
Odds Ratio
Neoplasms
Breast Neoplasms

Will digital pathology be as disruptive as genomics?

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

Research output: Contribution to journalReview article

Pathology
Genomics
Artificial Intelligence
Analog to digital conversion
Hematoxylin
2017
160 Citations (Scopus)

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

Breast Neoplasms
Genes
Single Nucleotide Polymorphism
Genome-Wide Association Study
Genetic Predisposition to Disease
7 Citations (Scopus)

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

Heterozygote
Single Nucleotide Polymorphism
Breast Neoplasms
Mutation
Estrogen Receptors
130 Citations (Scopus)

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

Breast Neoplasms
Neoplasm Genes
Genes
Neoplasms
Genetic Testing
3 Citations (Scopus)

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

Precision Medicine
Research
Workflow
Electronic Health Records
Computational Biology
23 Citations (Scopus)

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

Mutation Rate
Ovarian Neoplasms
Genes
Exome
Neoplasm Genes
2 Citations (Scopus)

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

Precision Medicine
Medicine
Health
Data Mining
Information Dissemination
57 Citations (Scopus)

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., 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. M., Christi, V. A. J., Den Berg, D. V., Ouweland, A. M. V., 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

Estrogen Receptors
Breast Neoplasms
Genome-Wide Association Study
Mutation
Disease Susceptibility
2016
14 Citations (Scopus)

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., 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 1 2016, In : Cancer Discovery. 6, 11, p. 1267-1275 9 p.

Research output: Contribution to journalArticle

Breast Neoplasms
Mutation
Clustered Regularly Interspaced Short Palindromic Repeats
DNA Repair-Deficiency Disorders
Exome
40 Citations (Scopus)

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

GEMO Study Collaborators, HEBON, Australia Ovarian Cancer Study Group, EMBRACE, OCGN & PRostate cancer Asso Ciation group To Investigate Cancer Associated aLterations in the genome, Feb 1 2016, In : Journal of the National Cancer Institute. 108, 2, djv315.

Research output: Contribution to journalArticle

Terminator Codon
Ovarian Neoplasms
Prostatic Neoplasms
Confidence Intervals
Breast Neoplasms
2 Citations (Scopus)

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

Exome
Disease Susceptibility
Genes
High-Throughput Nucleotide Sequencing
Genetic Association Studies
12 Citations (Scopus)

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

Exome
Prostatic Neoplasms
Mutation
Time and Motion Studies
Neoplasm Genes
39 Citations (Scopus)

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., 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

Medical Genetics
Genomics
Guidelines
Breast Neoplasms
Mutation
33 Citations (Scopus)

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. M., 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. M., Slager, S. L., 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

estrogens
loci
breast
Estrogen Receptors
Genes
11 Citations (Scopus)

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

behalf of GEMO Study Collaborators, Jun 21 2016, In : Breast Cancer Research. 18, 1, 64.

Research output: Contribution to journalArticle

Breast Neoplasms
Odds Ratio
Confidence Intervals
Single Nucleotide Polymorphism
Encyclopedias
15 Citations (Scopus)

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

Adenocarcinoma
Disease Progression
Genes
Exome
Gene Dosage
45 Citations (Scopus)

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

Australian Ovarian Cancer Study Group, Feb 26 2016, (Accepted/In press) In : Journal of Medical Genetics.

Research output: Contribution to journalArticle

Breast Neoplasms
Genes
Proteins
BRCA1 Protein
Fanconi Anemia
3 Citations (Scopus)

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., Couch, F. J., Colon-Otero, G. & Copland, J. A. III., May 10 2016, In : Journal of Translational Medicine. 14, 1, 129.

Research output: Contribution to journalArticle

oxaliplatin
Acinar Cell Carcinoma
Heterografts
Tumors
Cells
10 Citations (Scopus)

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., 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

Breast Neoplasms
Survival
Neoplasms
Transcriptome
Gene Expression
52 Citations (Scopus)

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

Neoplasm Genes
Pancreatic Neoplasms
Mutation
Adenocarcinoma
Germ-Line Mutation
1 Citation (Scopus)

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., 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. M., 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

3' Untranslated Regions
MicroRNAs
Binding Sites
Breast Neoplasms
Restriction Fragment Length Polymorphisms
19 Citations (Scopus)

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

Miners
Graphical user interfaces
Specifications
Trimming
Microcomputers
2015
33 Citations (Scopus)

Bioinformatics for clinical next generation sequencing

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

Research output: Contribution to journalArticle

Bioinformatics
Computational Biology
Clinical laboratories
Informatics
Workflow
11 Citations (Scopus)

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., Kalari, K. R., Suman, V. J., 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. & 9 others, Visscher, D. W., Jones, K., Conners, A., McDonough, M., Wieben, E. D., Wang, L. M., Weinshilboum, R. M., 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

Exome
Neoplasm Genes
Breast Neoplasms
Drug Therapy
Genes
269 Citations (Scopus)

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., 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

Triple Negative Breast Neoplasms
Neoplasm Genes
Breast Neoplasms
Mutation
Genetic Testing
10 Citations (Scopus)

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., 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. M. & 1 others, Wang, L. M., Dec 1 2015, In : PLoS One. 10, 12, 0145176.

Research output: Contribution to journalArticle

Heterografts
metastasis
Prostate
Tumors
Neoplasm Metastasis
3 Citations (Scopus)

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

Molecular Sequence Annotation
Information Storage and Retrieval
Genes
Data Display
Precision Medicine
20 Citations (Scopus)

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., Li, Y., Davila, J. I., Baheti, S., Wang, C., Dietmann, S., Atkinson, E. J., Asmann, Y., 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., 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

Recombinational DNA Repair
Tetraploidy
Ovarian Neoplasms
Loss of Heterozygosity
Homologous Recombination
9 Citations (Scopus)

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

Adenocarcinoma
Imaging techniques
Tumors
Microarrays
Tissue
2014
48 Citations (Scopus)

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. D., Price-Troska, T., Ziesmer, S., Li, Y., Johnson, S. H., Hart, S., Kocher, J-P., Vasmatzis, G., Chanan Khan, A. A., Gertz, M., Fonseca, R., Dogan, A., Cerhan, J. R. & Novak, A. J., 2014, In : Blood Cancer Journal. 4, 2, 20144.

Research output: Contribution to journalArticle

Waldenstrom Macroglobulinemia
Non-Hodgkin's Lymphoma
B-Lymphocytes
Growth
TNF Receptor-Associated Factor 6
22 Citations (Scopus)

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

Kuchenbaecker, K. B., Neuhausen, S. L., Robson, M., Barrowdale, D., McGuffog, L., Mulligan, A. M., Andrulis, I. L., Spurdle, A. B., Schmidt, M. K., Schmutzler, R. K., Engel, C., Wappenschmidt, B., Nevanlinna, H., Thomassen, M., Southey, M., Radice, P., Ramus, S. J., Domchek, S. M., Nathanson, K. L., Lee, A. & 186 others, Healey, S., Nussbaum, R. L., Rebbeck, T. R., Arun, B. K., James, P., Karlan, B. Y., Lester, J., Cass, I., Registry, B. C. F., Terry, M. B., Daly, M. B., Goldgar, D. E., Buys, S. S., Janavicius, R., Tihomirova, L., Tung, N., Dorfling, C. M., van Rensburg, E. J., Steele, L., v O Hansen, T., Ejlertsen, B., Gerdes, A. M., Nielsen, F. C., Cunningham, J. M., Hart, S., Slager, S. L., Slager, S., Osorio, A., Benitez, J., Duran, M., Weitzel, J. N., Tafur, I., Hander, M., Peterlongo, P., Manoukian, S., Peissel, B., Roversi, G., Scuvera, G., Bonanni, B., Mariani, P., Volorio, S., Dolcetti, R., Varesco, L., Papi, L., Tibiletti, M. G., Giannini, G., Fostira, F., Konstantopoulou, I., Garber, J., Hamann, U., Donaldson, A., Brewer, C., Foo, C., Evans, D. G., Frost, D., Eccles, D., Douglas, F., Brady, A., Cook, J., Tischkowitz, M., Adlard, J., Barwell, J., Ong, K. R., Walker, L., Izatt, L., Side, L. E., Kennedy, M. J., Rogers, M. T., Porteous, M. E., Morrison, P. J., Platte, R., Eeles, R., Davidson, R., Hodgson, S., Ellis, S., Godwin, A. K., Rhiem, K., Meindl, A., Ditsch, N., Arnold, N., Plendl, H., Niederacher, D., Sutter, C., Steinemann, D., Bogdanova-Markov, N., Kast, K., Varon-Mateeva, R., Wang-Gohrke, S., Gehrig, A., Markiefka, B., Buecher, B., Lefol, C., Stoppa-Lyonnet, D., Rouleau, E., Prieur, F., Damiola, F., Barjhoux, L., Faivre, L., Longy, M., Sevenet, N., Sinilnikova, O. M., Mazoyer, S., Bonadona, V., Caux-Moncoutier, V., Isaacs, C., Van Maerken, T., Claes, K., Piedmonte, M., Andrews, L., Hays, J., Rodriguez, G. C., Caldes, T., de la Hoya, M., Khan, S., Hogervorst, F. B. L., Aalfs, C. M., de Lange, J. L., Meijers-Heijboer, H. E. J., van der Hout, A. H., Wijnen, J. T., van Roozendaal, K. E. P., Mensenkamp, A. R., van den Ouweland, A. M. W., van Deurzen, C. H. M., van der Luijt, R. B., Olah, E., Diez, O., Lazaro, C., Blanco, I., Teulé, A., Menendez, M., Jakubowska, A., Lubinski, J., Cybulski, C., Gronwald, J., Jaworska-Bieniek, K., Durda, K., Arason, A., Maugard, C., Soucy, P., Montagna, M., Agata, S., Teixeira, M. R., Lindor, N. M., Lindor, N., Pankratz, V. S., Hallberg, E., Wang, X., Szabo, C. I., Vijai, J., Jacobs, L., Corines, M., Lincoln, A., Berger, A., Fink-Retter, A., Singer, C. F., Rappaport, C., Kaulich, D. G., Pfeiler, G., Tea, M. K., Phelan, C. M., Mai, P. L., Greene, M. H., Rennert, G., Imyanitov, E. N., Glendon, G., Toland, A. E., Bojesen, A., Pedersen, I. S., Jensen, U. B., Caligo, M. A., Friedman, E., Berger, R., Laitman, Y., Rantala, J., Arver, B., Loman, N., Borg, A., Ehrencrona, H., Olopade, O. I., Simard, J., Easton, D. F., Chenevix-Trench, G., Couch, F. J., Couch, F. J. & Antoniou, A. C., Dec 31 2014, (Accepted/In press) In : Breast Cancer Research. p. 1-27 27 p.

Research output: Contribution to journalArticle

Estrogen Receptors
Alleles
Breast Neoplasms
Mutation
Population
76 Citations (Scopus)

Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer

Kiiski, J. I., Pelttari, L. M., Khan, S., Freysteinsdottir, E. S., Reynisdottir, I., Hart, S., Shimelis, H., Vilske, S., Kallioniemi, A., Schleutker, J., Leminen, A., Bützow, R., Blomqvist, C., Barkardottir, R. B., Couch, F. J., Aittomäki, K. & Nevanlinna, H., Oct 21 2014, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 42, p. 15172-15177 6 p.

Research output: Contribution to journalArticle

Triple Negative Breast Neoplasms
Exome
Fanconi Anemia
Breast Neoplasms
Genes
82 Citations (Scopus)

Fibroblast growth factor receptor 2 translocations in intrahepatic cholangiocarcinoma

Graham, R., Barr Fritcher, E. G., Pestova, E., Schulz, J., Sitailo, L. A., Vasmatzis, G., Murphy, S. J., Mc Williams, R. R., Hart, S., Halling, K. C., Roberts, L. R., Gores, G. J., Couch, F. J., Zhang, L., Borad, M. J. & Kipp, B. R., 2014, In : Human Pathology. 45, 8, p. 1630-1638 9 p.

Research output: Contribution to journalArticle

Receptor, Fibroblast Growth Factor, Type 2
Cholangiocarcinoma
Bile Duct Neoplasms
Neoplasms
Fluorescence In Situ Hybridization
1 Citation (Scopus)

From days to hours: Reporting clinically actionable variants from whole genome sequencing

Middha, S., Baheti, S., Hart, S. & Kocher, J-P., Feb 5 2014, In : PLoS One. 9, 2, e86803.

Research output: Contribution to journalArticle

Workflow
Genes
Genome
Technology
genome
22 Citations (Scopus)

PatternCNV: A versatile tool for detecting copy number changes from exome sequencing data

Wang, C., Evans, J. M., Bhagwate, A. V., Prodduturi, N., Sarangi, V., Middha, M., Sicotte, H., Vedell, P. T., Hart, S., Oliver, G. R., Kocher, J-P., Maurer, M. J., Novak, A. J., Slager, S. L., Cerhan, J. R. & Asmann, Y., 2014, In : Bioinformatics. 30, 18, p. 2678-2680 3 p.

Research output: Contribution to journalArticle

Exome
Sequencing
Exons
Software
Chromosomes
12 Citations (Scopus)

Pregnancy-associated plasma protein-A expression in human breast cancer

Mansfield, A., Visscher, D. W., Hart, S., Wang, C., Goetz, M. P., Oxvig, C. & Conover, C. A., Dec 1 2014, In : Growth Hormone and IGF Research. 24, 6, p. 264-267 4 p.

Research output: Contribution to journalArticle

Pregnancy-Associated Plasma Protein-A
Breast Neoplasms
Estrogen Receptors
Neoplasms
Metalloproteases
12 Citations (Scopus)

Somatic expression of ENRAGE is associated with obesity status among patients with clear cell renal cell carcinoma

Eckel-Passow, J. E., Serie, D. J., Bot, B. M., Joseph, R. W., Hart, S., Cheville, J. C. & Parker, A., 2014, In : Carcinogenesis. 35, 4, p. 822-827 6 p.

Research output: Contribution to journalArticle

Renal Cell Carcinoma
Obesity
Neoplasms
Reverse Transcription
Genes