Faculty

Steven N. Hart, Ph.D.

Publications

Gu Q, Patel A, Hanna MG, Lennerz JK, Garcia C, Zarella M, McClintock D, Hart SN. Bridging the Clinical-Computational Transparency Gap in Digital Pathology. Arch Pathol Lab Med. 2025 Mar 1; 149 (3):276-287
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Cecchini MJ, Borowitz MJ, Glassy EF, Gullapalli RR, Hart SN, Hassell LA, Homer RJ, Jackups R Jr, McNeal JL, Anderson SR. Harnessing the Power of Generative Artificial Intelligence in Pathology Education: Opportunities, Challenges, and Future Directions. Arch Pathol Lab Med. 2025 Feb 1; 149 (2):142-151
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Huang H, Hu C, Na J, Hart SN, Gnanaolivu RD, Abozaid M, Rao T, Tecleab YA, Pesaran T, Lyra PCM, Karam R, Yadav S, Nathanson KL, Domchek SM, de la Hoya M, Robson M, Mehine M, Bandlamudi C, Mandelker D, Monteiro ANA, Iversen ES, Boddicker N, Chen W, Richardson ME, Couch FJ, CARRIERS Consortium. Functional evaluation and clinical classification of BRCA2 variants. Nature. 2025 Feb; 638 (8050):528-537 Epub 2025 Jan 08
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Cecchini MJ, Borowitz MJ, Glassy EF, Gullapalli RR, Hart SN, Hassell LA, Homer RJ, Jackups R Jr, Mcneal JL, Anderson SR. Harnessing the power of generative artificial intelligence in pathology education opportunities, challenges, and future directions. Archives of Pathology & Laboratory Medicine. 2025 Feb; 149 (2):142-51
Flotte TJ, Derauf SA, Byrd RK, Kroneman TN, Bell DA, Stetzik L, Lee SY, Samiei A, Hart SN, Garcia JJ, Beamer G, Westerling-Bui T. Democratizing Artificial Intelligence in Anatomic Pathology. Arch Pathol Lab Med. 2025 Jan 1; 149 (1):55-59
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Albayrak A, Xiao Y, Mukherjee P, Barnett SS, Marcou CA, Hart SN. Enhancing human phenotype ontology term extraction through synthetic case reports and embedding-based retrieval: A novel approach for improved biomedical data annotation. J Pathol Inform. 2025 Jan; 16:100409 Epub 2024 Nov 16
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Gnanaolivu R, Hart SN. Using AI-predicted protein structures as a reference to predict loss-of-function activity in tumor suppressor breast cancer genes. Comput Struct Biotechnol J. 2024 Dec; 23:3472-3480 Epub 2024 Oct 05
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Fasching PA, Hu C, Hart SN, Ruebner M, Polley EC, Gnanaolivu RD, Hartkopf AD, Huebner H, Janni W, Hadji P, Tesch H, Uhrig S, Ettl J, Lux MP, Luftner D, Wallwiener M, Wurmthaler LA, Goossens C, Muller V, Beckmann MW, Hein A, Anetsberger D, Belleville E, Wimberger P, Untch M, Ekici AB, Kolberg HC, Hartmann A, Taran FA, Fehm TN, Wallwiener D, Brucker SY, Schneeweiss A, Haberle L, Couch FJ. Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer. NPJ Breast Cancer. 2024 Jul 13; 10 (1):57 Epub 2024 July 13
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Jahangir CA, Page DB, Broeckx G, Gonzalez CA, Burke C, Murphy C, Reis-Filho JS, Ly A, Harms PW, Gupta RR, Vieth M, Hida AI, Kahila M, Kos Z, van Diest PJ, Verbandt S, Thagaard J, Khiroya R, Abduljabbar K, Acosta Haab G, Acs B, Adams S, Almeida JS, Alvarado-Cabrero I, Azmoudeh-Ardalan F, Badve S, Baharun NB, Bellolio ER, Bheemaraju V, Blenman KR, Botinelly Mendonca Fujimoto L, Burgues O, Chardas A, Cheang MCU, Ciompi F, Cooper LA, Coosemans A, Corredor G, Dantas Portela FL, Deman F, Demaria S, Dudgeon SN, Elghazawy M, Fernandez-Martin C, Fineberg S, Fox SB, Giltnane JM, Gnjatic S, Gonzalez-Ericsson PI, Grigoriadis A, Halama N, Hanna MG, Harbhajanka A, Hart SN, Hartman J, Hewitt S, Horlings HM, Husain Z, Irshad S, Janssen EA, Kataoka TR, Kawaguchi K, Khramtsov AI, Kiraz U, Kirtani P, Kodach LL, Korski K, Akturk G, Scott E, Kovacs A, Laenkholm AV, Lang-Schwarz C, Larsimont D, Lennerz JK, Lerousseau M, Li X, Madabhushi A, Maley SK, Manur Narasimhamurthy V, Marks DK, McDonald ES, Mehrotra R, Michiels S, Kharidehal D, Minhas FUAA, Mittal S, Moore DA, Mushtaq S, Nighat H, Papathomas T, Penault-Llorca F, Perera RD, Pinard CJ, Pinto-Cardenas JC, Pruneri G, Pusztai L, Rajpoot NM, Rapoport BL, Rau TT, Ribeiro JM, Rimm D, Vincent-Salomon A, Saltz J, Sayed S, Hytopoulos E, Mahon S, Siziopikou KP, Sotiriou C, Stenzinger A, Sughayer MA, Sur D, Symmans F, Tanaka S, Taxter T, Tejpar S, Teuwen J, Thompson EA, Tramm T, Tran WT, van der Laak J, Verghese GE, Viale G, Wahab N, Walter T, Waumans Y, Wen HY, Yang W, Yuan Y, Bartlett J, Loibl S, Denkert C, Savas P, Loi S, Specht Stovgaard E, Salgado R, Gallagher WM, Rahman A. Image-based multiplex immune profiling of cancer tissues: translational implications. A report of the International Immuno-oncology Biomarker Working Group on Breast Cancer. J Pathol. 2024 Mar; 262 (3):271-288 Epub 2024 Jan 17
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Gu Q, Prodduturi N, Hart SN. Deep learning in automating breast cancer diagnosis from microscopy images. Proceedings of the 2024 Design of Medical Devices Conference, DMD 2024. 2024; V001T02A001
Hughley RW, Matejcic M, Song Z, Sheng X, Wan P, Xia L, Hart SN, Hu C, Yadav S, Lubmawa A, Kiddu V, Asiimwe F, Amanya C, Mutema G, Job K, Ssebakumba MK, Ingles SA, Hamilton AS, Couch FJ, Watya S, Conti DV, Darst BF, Haiman CA. Polygenic Risk Score Modifies Prostate Cancer Risk of Pathogenic Variants in Men of African Ancestry. Cancer Res Commun. 2023 Dec 14; 3 (12):2544-2550
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Hart S, Garcia V, Dudgeon SN, Hanna MG, Li X, Blenman KR, Elfer K, Ly A, Salgado R, Saltz J, Gupta R, Hytopoulos E, Larsimont D, Lennerz J, Gallas BD. Initial interactions with the FDA on developing a validation dataset as a medical device development tool. J Pathol. 2023 Dec; 261 (4):378-384 Epub 2023 Oct 04
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Hart SN, Hoffman NG, Gershkovich P, Christenson C, McClintock DS, Miller LJ, Jackups R, Azimi V, Spies N, Brodsky V. Organizational preparedness for the use of large language models in pathology informatics. J Pathol Inform. 2023; 14:100338 Epub 2023 Oct 01
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Page DB, Broeckx G, Jahangir CA, Verbandt S, Gupta RR, Thagaard J, Khiroya R, Kos Z, Abduljabbar K, Acosta Haab G, Acs B, Akturk G, Almeida JS, Alvarado-Cabrero I, Azmoudeh-Ardalan F, Badve S, Baharun NB, Bellolio ER, Bheemaraju V, Blenman KR, Botinelly Mendonca Fujimoto L, Bouchmaa N, Burgues O, Cheang MCU, Ciompi F, Cooper LA, Coosemans A, Corredor G, Dantas Portela FL, Deman F, Demaria S, Dudgeon SN, Elghazawy M, Ely S, Fernandez-Martin C, Fineberg S, Fox SB, Gallagher WM, Giltnane JM, Gnjatic S, Gonzalez-Ericsson PI, Grigoriadis A, Halama N, Hanna MG, Harbhajanka A, Hardas A, Hart SN, Hartman J, Hewitt S, Hida AI, Horlings HM, Husain Z, Hytopoulos E, Irshad S, Janssen EA, Kahila M, Kataoka TR, Kawaguchi K, Kharidehal D, Khramtsov AI, Kiraz U, Kirtani P, Kodach LL, Korski K, Kovacs A, Laenkholm AV, Lang-Schwarz C, Larsimont D, Lennerz JK, Lerousseau M, Li X, Ly A, Madabhushi A, Maley SK, Manur Narasimhamurthy V, Marks DK, McDonald ES, Mehrotra R, Michiels S, Minhas FUAA, Mittal S, Moore DA, Mushtaq S, Nighat H, Papathomas T, Penault-Llorca F, Perera RD, Pinard CJ, Pinto-Cardenas JC, Pruneri G, Pusztai L, Rahman A, Rajpoot NM, Rapoport BL, Rau TT, Reis-Filho JS, Ribeiro JM, Rimm D, Vincent-Salomon A, Salto-Tellez M, Saltz J, Sayed S, Siziopikou KP, Sotiriou C, Stenzinger A, Sughayer MA, Sur D, Symmans F, Tanaka S, Taxter T, Tejpar S, Teuwen J, Thompson EA, Tramm T, Tran WT, van der Laak J, van Diest PJ, Verghese GE, Viale G, Vieth M, Wahab N, Walter T, Waumans Y, Wen HY, Yang W, Yuan Y, Adams S, Bartlett JMS, Loibl S, Denkert C, Savas P, Loi S, Salgado R, Specht Stovgaard E. Spatial analyses of immune cell infiltration in cancer: current methods and future directions: A report of the International Immuno-Oncology Biomarker Working Group on Breast Cancer. J Pathol. 2023 Aug; 260 (5):514-532 Epub 2023 Aug 23
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Thagaard J, Broeckx G, Page DB, Jahangir CA, Verbandt S, Kos Z, Gupta R, Khiroya R, Abduljabbar K, Acosta Haab G, Acs B, Akturk G, Almeida JS, Alvarado-Cabrero I, Amgad M, Azmoudeh-Ardalan F, Badve S, Baharun NB, Balslev E, Bellolio ER, Bheemaraju V, Blenman KR, Botinelly Mendonca Fujimoto L, Bouchmaa N, Burgues O, Chardas A, Chon U Cheang M, Ciompi F, Cooper LA, Coosemans A, Corredor G, Dahl AB, Dantas Portela FL, Deman F, Demaria S, Dore Hansen J, Dudgeon SN, Ebstrup T, Elghazawy M, Fernandez-Martin C, Fox SB, Gallagher WM, Giltnane JM, Gnjatic S, Gonzalez-Ericsson PI, Grigoriadis A, Halama N, Hanna MG, Harbhajanka A, Hart SN, Hartman J, Hauberg S, Hewitt S, Hida AI, Horlings HM, Husain Z, Hytopoulos E, Irshad S, Janssen EA, Kahila M, Kataoka TR, Kawaguchi K, Kharidehal D, Khramtsov AI, Kiraz U, Kirtani P, Kodach LL, Korski K, Kovacs A, Laenkholm AV, Lang-Schwarz C, Larsimont D, Lennerz JK, Lerousseau M, Li X, Ly A, Madabhushi A, Maley SK, Manur Narasimhamurthy V, Marks DK, McDonald ES, Mehrotra R, Michiels S, Minhas FUAA, Mittal S, Moore DA, Mushtaq S, Nighat H, Papathomas T, Penault-Llorca F, Perera RD, Pinard CJ, Pinto-Cardenas JC, Pruneri G, Pusztai L, Rahman A, Rajpoot NM, Rapoport BL, Rau TT, Reis-Filho JS, Ribeiro JM, Rimm D, Roslind A, Vincent-Salomon A, Salto-Tellez M, Saltz J, Sayed S, Scott E, Siziopikou KP, Sotiriou C, Stenzinger A, Sughayer MA, Sur D, Fineberg S, Symmans F, Tanaka S, Taxter T, Tejpar S, Teuwen J, Thompson EA, Tramm T, Tran WT, van der Laak J, van Diest PJ, Verghese GE, Viale G, Vieth M, Wahab N, Walter T, Waumans Y, Wen HY, Yang W, Yuan Y, Zin RM, Adams S, Bartlett J, Loibl S, Denkert C, Savas P, Loi S, Salgado R, Specht Stovgaard E. Pitfalls in machine learning-based assessment of tumor-infiltrating lymphocytes in breast cancer: A report of the International Immuno-Oncology Biomarker Working Group on Breast Cancer. J Pathol. 2023 Aug; 260 (5):498-513 Epub 2023 Aug 23
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Hu C, Belur Nagaraj A, Nagaraj AB, Shimelis H, Montalban G, Lee KY, Huang H, Lumby CA, Na J, Susswein LR, Roberts ME, Marshall ML, Hiraki S, LaDuca H, Chao E, Yussuf A, Pesaran T, Neuhausen SL, Haiman CA, Kraft P, Lindstrom S, Palmer JR, Teras LR, Vachon CM, Yao S, Ong I, Nathanson KL, Weitzel JN, Boddicker N, Gnanaolivu R, Polley EC, Mer G, Cui G, Karam R, Richardson ME, Domchek SM, Yadav S, Hruska KS, Dolinsky J, Weroha SJ, Hart SN, Simard J, Masson JY, Pang YP, Couch FJ. Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C. Cancer Res. 2023 Aug 1; 83 (15):2557-2571
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Yadav S, Boddicker NJ, Na J, Polley EC, Hu C, Hart SN, Gnanaolivu RD, Larson N, Holtegaard S, Huang H, Dunn CA, Teras LR, Patel AV, Lacey JV, Neuhausen SL, Martinez E, Haiman C, Chen F, Ruddy KJ, Olson JE, John EM, Kurian AW, Sandler DP, O'Brien KM, Taylor JA, Weinberg CR, Anton-Culver H, Ziogas A, Zirpoli G, Goldgar DE, Palmer JR, Domchek SM, Weitzel JN, Nathanson KL, Kraft P, Couch FJ. Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2. J Clin Oncol. 2023 Mar 20; 41 (9):1703-1713 Epub 2023 Jan 09
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Patel AU, Williams CL, Hart SN, Garcia CA, Durant TJS, Cornish TC, McClintock DS. Cybersecurity and Information Assurance for the Clinical Laboratory. J Appl Lab Med. 2023 Jan 4; 8 (1):145-161
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Gu Q, Meroueh C, Levernier J, Kroneman T, Flotte T, Hart S. Using an anomaly detection approach for the segmentation of colorectal cancer tumors in whole slide images. J Pathol Inform. 2023; 14:100336 Epub 2023 Sept 22
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Gruber LM, Hart SN, Maher Iii LJ. Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'? Endocr Oncol. 2023 Jan 1; 3 (1):e220093 Epub 2023 Feb 13
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Dixon-Suen SC, Lewis SJ, Martin RM, English DR, Boyle T, Giles GG, Michailidou K, Bolla MK, Wang Q, Dennis J, Lush M, Investigators A, Ahearn TU, Ambrosone CB, Andrulis IL, Anton-Culver H, Arndt V, Aronson KJ, Augustinsson A, Auvinen P, Beane Freeman LE, Becher H, Beckmann MW, Behrens S, Bermisheva M, Blomqvist C, Bogdanova NV, Bojesen SE, Bonanni B, Brenner H, Bruning T, Buys SS, Camp NJ, Campa D, Canzian F, Castelao JE, Cessna MH, Chang-Claude J, Chanock SJ, Clarke CL, Conroy DM, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dork T, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Fletcher O, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, Garcia-Closas M, Garcia-Saenz JA, Goldberg MS, Guenel P, Gundert M, Hahnen E, Haiman CA, Haberle L, Hakansson N, Hall P, Hamann U, Hart SN, Harvie M, Hillemanns P, Hollestelle A, Hooning MJ, Hoppe R, Hopper J, Howell A, Hunter DJ, Jakubowska A, Janni W, John EM, Jung A, Kaaks R, Keeman R, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Kubelka-Sabit K, Kurian AW, Lacey JV, Lambrechts D, Le Marchand L, Lindblom A, Loibl S, Lubinski J, Mannermaa A, Manoochehri M, Margolin S, Martinez ME, Mavroudis D, Menon U, Mulligan AM, Murphy RA, Collaborators N, Nevanlinna H, Nevelsteen I, Newman WG, Offit K, Olshan AF, Olsson H, Orr N, Patel A, Peto J, Plaseska-Karanfilska D, Presneau N, Rack B, Radice P, Rees-Punia E, Rennert G, Rennert HS, Romero A, Saloustros E, Sandler DP, Schmidt MK, Schmutzler RK, Schwentner L, Scott C, Shah M, Shu XO, Simard J, Southey MC, Stone J, Surowy H, Swerdlow AJ, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Tollenaar RAEM, Troester MA, Truong T, Untch M, Vachon CM, Joseph V, Wappenschmidt B, Weinberg CR, Wolk A, Yannoukakos D, Zheng W, Ziogas A, Dunning AM, Pharoah PDP, Easton DF, Milne RL, Lynch BM, Breast Cancer Association Consortium. Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study. Br J Sports Med. 2022 Oct; 56 (20):1157-1170 Epub 2022 Sept 06
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Chen F, Park SL, Wilkens LR, Wan P, Hart SN, Hu C, Yadav S, Couch FJ, Conti DV, de Smith AJ, Haiman CA. Genetic Risk of Second Primary Cancer in Breast Cancer Survivors: The Multiethnic Cohort Study. Cancer Res. 2022 Sep 16; 82 (18):3201-3208
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Hu C, Susswein LR, Roberts ME, Yang H, Marshall ML, Hiraki S, Berkofsky-Fessler W, Gupta S, Shen W, Dunn CA, Huang H, Na J, Domchek SM, Yadav S, Monteiro ANA, Polley EC, Hart SN, Hruska KS, Couch FJ. Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay. Clin Cancer Res. 2022 Sep 01; 28(17):3742-3751.
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Iversen ES Jr, Lipton G, Hart SN, Lee KY, Hu C, Polley EC, Pesaran T, Yussuf A, LaDuca H, Chao E, Karam R, Goldgar DE, Couch FJ, Monteiro ANA. An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance. NPJ Genom Med. 2022 Jun 3; 7 (1):35 Epub 2022 June 03
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Cosgrove N, Vareslija D, Keelan S, Elangovan A, Atkinson JM, Cocchiglia S, Bane FT, Singh V, Furney S, Hu C, Carter JM, Hart SN, Yadav S, Goetz MP, Hill ADK, Oesterreich S, Lee AV, Couch FJ, Young LS. Mapping molecular subtype specific alterations in breast cancer brain metastases identifies clinically relevant vulnerabilities. Nat Commun. 2022 Jan 26; 13 (1):514
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Yadav S, Hu C, Nathanson KL, Weitzel JN, Goldgar DE, Kraft P, Gnanaolivu RD, Na J, Huang H, Boddicker NJ, Larson N, Gao C, Yao S, Weinberg C, Vachon CM, Trentham-Dietz A, Taylor JA, Sandler DR, Patel A, Palmer JR, Olson JE, Neuhausen S, Martinez E, Lindstrom S, Lacey JV, Kurian AW, John EM, Haiman C, Bernstein L, Auer PW, Anton-Culver H, Ambrosone CB, Karam R, Chao E, Yussuf A, Pesaran T, Dolinsky JS, Hart SN, LaDuca H, Polley EC, Domchek SM, Couch FJ. Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast. J Clin Oncol. 2021 Dec 10; 39 (35):3918-3926 Epub 2021 Oct 21
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Ahmed AE, Allen JM, Bhat T, Burra P, Fliege CE, Hart SN, Heldenbrand JR, Hudson ME, Istanto DD, Kalmbach MT, Kapraun GD, Kendig KI, Kendzior MC, Klee EW, Mattson N, Ross CA, Sharif SM, Venkatakrishnan R, Fadlelmola FM, Mainzer LS. Design considerations for workflow management systems use in production genomics research and the clinic. Sci Rep. 2021 Nov 4; 11 (1):21680 Epub 2021 Nov 04
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Boddicker NJ, Hu C, Weitzel JN, Kraft P, Nathanson KL, Goldgar DE, Na J, Huang H, Gnanaolivu RD, Larson N, Yussuf A, Yao S, Vachon CM, Trentham-Dietz A, Teras L, Taylor JA, Scott CE, Sandler DP, Pesaran T, Patel AV, Palmer JR, Ong IM, Olson JE, O'Brien K, Neuhausen S, Martinez E, Ma H, Lindstrom S, Le Marchand L, Kooperberg C, Karam R, Hunter DJ, Hodge JM, Haiman C, Gaudet MM, Gao C, LaDuca H, Lacey JV, Dolinsky JS, Chao E, Carter BD, Burnside ES, Bertrand KA, Bernstein L, Auer PW, Ambrosone C, Yadav S, Hart SN, Polley EC, Domchek SM, Couch FJ. Risk of Late-Onset Breast Cancer in Genetically Predisposed Women. J Clin Oncol. 2021 Nov 1; 39 (31):3430-3440 Epub 2021 July 22
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Park HA, Neumeyer S, Michailidou K, Bolla MK, Wang Q, Dennis J, Ahearn TU, Andrulis IL, Anton-Culver H, Antonenkova NN, Arndt V, Aronson KJ, Augustinsson A, Baten A, Beane Freeman LE, Becher H, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bogdanova NV, Bojesen SE, Brauch H, Brenner H, Brucker SY, Burwinkel B, Campa D, Canzian F, Castelao JE, Chanock SJ, Chenevix-Trench G, Clarke CL, Conroy DM, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Devilee P, Dork T, Dos-Santos-Silva I, Dwek M, Eccles DM, Eliassen AH, Engel C, Eriksson M, Evans DG, Fasching PA, Flyger H, Fritschi L, Garcia-Closas M, Garcia-Saenz JA, Gaudet MM, Giles GG, Glendon G, Goldberg MS, Goldgar DE, Gonzalez-Neira A, Grip M, Guenel P, Hahnen E, Haiman CA, Hakansson N, Hall P, Hamann U, Han S, Harkness EF, Hart SN, He W, Heemskerk-Gerritsen BAM, Hopper JL, Hunter DJ, Jager A, Jakubowska A, John EM, Jung A, Kaaks R, Kapoor PM, Keeman R, Khusnutdinova E, Kitahara CM, Koppert LB, Koutros S, Kristensen VN, Kurian AW, Lacey J, Lambrechts D, Le Marchand L, Lo WY, Lubinski J, Mannermaa A, Manoochehri M, Margolin S, Martinez ME, Mavroudis D, Meindl A, Menon U, Milne RL, Muranen TA, Nevanlinna H, Newman WG, Nordestgaard BG, Offit K, Olshan AF, Olsson H, Park-Simon TW, Peterlongo P, Peto J, Plaseska-Karanfilska D, Presneau N, Radice P, Rennert G, Rennert HS, Romero A, Saloustros E, Sawyer EJ, Schmidt MK, Schmutzler RK, Schoemaker MJ, Schwentner L, Scott C, Shah M, Shu XO, Simard J, Smeets A, Southey MC, Spinelli JJ, Stevens V, Swerdlow AJ, Tamimi RM, Tapper WJ, Taylor JA, Terry MB, Tomlinson I, Troester MA, Truong T, Vachon CM, van Veen EM, Vijai J, Wang S, Wendt C, Winqvist R, Wolk A, Ziogas A, Dunning AM, Pharoah PDP, Easton DF, Zheng W, Kraft P, Chang-Claude J, NBCS Collaborators//ABCTB Investigators//kConFab Investigators. Mendelian randomisation study of smoking exposure in relation to breast cancer risk. Br J Cancer. 2021 Oct; 125 (8):1135-1145 Epub 2021 Aug 02
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Yadav S, LaDuca H, Polley EC, Hu C, Niguidula N, Shimelis H, Lilyquist J, Na J, Lee KY, Gutierrez S, Yussuf A, Hart SN, Davis BT, Chao EC, Pesaran T, Goldgar DE, Dolinsky JS, Couch FJ. Racial and Ethnic Differences in Multigene Hereditary Cancer Panel Test Results for Women With Breast Cancer. J Natl Cancer Inst. 2021 Oct 1; 113 (10):1429-1433
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Morra A, Escala-Garcia M, Beesley J, Keeman R, Canisius S, Ahearn TU, Andrulis IL, Anton-Culver H, Arndt V, Auer PL, Augustinsson A, Beane Freeman LE, Becher H, Beckmann MW, Behrens S, Bojesen SE, Bolla MK, Brenner H, Bruning T, Buys SS, Caan B, Campa D, Canzian F, Castelao JE, Chang-Claude J, Chanock SJ, Cheng TD, Clarke CL, Colonna SV, Couch FJ, Cox A, Cross SS, Czene K, Daly MB, Dennis J, Dork T, Dossus L, Dunning AM, Dwek M, Eccles DM, Ekici AB, Eliassen AH, Eriksson M, Evans DG, Fasching PA, Flyger H, Fritschi L, Gago-Dominguez M, Garcia-Saenz JA, Giles GG, Grip M, Guenel P, Gundert M, Hahnen E, Haiman CA, Hakansson N, Hall P, Hamann U, Hart SN, Hartikainen JM, Hartmann A, He W, Hooning MJ, Hoppe R, Hopper JL, Howell A, Hunter DJ, Jager A, Jakubowska A, Janni W, John EM, Jung AY, Kaaks R, Keupers M, Kitahara CM, Koutros S, Kraft P, Kristensen VN, Kurian AW, Lacey JV, Lambrechts D, Le Marchand L, Lindblom A, Linet M, Luben RN, Lubinski J, Lush M, Mannermaa A, Manoochehri M, Margolin S, Martens JWM, Martinez ME, Mavroudis D, Michailidou K, Milne RL, Mulligan AM, Muranen TA, Nevanlinna H, Newman WG, Nielsen SF, Nordestgaard BG, Olshan AF, Olsson H, Orr N, Park-Simon TW, Patel AV, Peissel B, Peterlongo P, Plaseska-Karanfilska D, Prajzendanc K, Prentice R, Presneau N, Rack B, Rennert G, Rennert HS, Rhenius V, Romero A, Roylance R, Ruebner M, Saloustros E, Sawyer EJ, Schmutzler RK, Schneeweiss A, Scott C, Shah M, Smichkoska S, Southey MC, Stone J, Surowy H, Swerdlow AJ, Tamimi RM, Tapper WJ, Teras LR, Terry MB, Tollenaar RAEM, Tomlinson I, Troester MA, Truong T, Vachon CM, Wang Q, Hurson AN, Winqvist R, Wolk A, Ziogas A, Brauch H, Garcia-Closas M, Pharoah PDP, Easton DF, Chenevix-Trench G, Schmidt MK, NBCS Collaborators//ABCTB Investigators//kConFab Investigators. Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment. Breast Cancer Res. 2021 Aug 18; 23 (1):86
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Gao C, Polley EC, Hart SN, Huang H, Hu C, Gnanaolivu R, Lilyquist J, Boddicker NJ, Na J, Ambrosone CB, Auer PL, Bernstein L, Burnside ES, Eliassen AH, Gaudet MM, Haiman C, Hunter DJ, Jacobs EJ, John EM, Lindstrom S, Ma H, Neuhausen SL, Newcomb PA, O'Brien KM, Olson JE, Ong IM, Patel AV, Palmer JR, Sandler DP, Tamimi R, Taylor JA, Teras LR, Trentham-Dietz A, Vachon CM, Weinberg CR, Yao S, Weitzel JN, Goldgar DE, Domchek SM, Nathanson KL, Couch FJ, Kraft P. Risk of Breast Cancer Among Carriers of Pathogenic Variants in Breast Cancer Predisposition Genes Varies by Polygenic Risk Score. J Clin Oncol. 2021 Aug 10; 39 (23):2564-2573 Epub 2021 June 08
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Domchek SM, Yao S, Chen F, Hu C, Hart SN, Goldgar DE, Nathanson KL, Ambrosone CB, Haiman CA, Couch FJ, Polley EC, Palmer JR, CARRIERS Consortium. Comparison of the Prevalence of Pathogenic Variants in Cancer Susceptibility Genes in Black Women and Non-Hispanic White Women With Breast Cancer in the United States. JAMA Oncol. 2021 Jul 1; 7 (7):1045-1050
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Kendig KI, Baheti S, Bockol MA, Drucker TM, Hart SN, Heldenbrand JR, Hernaez M, Hudson ME, Kalmbach MT, Klee EW, Mattson NR, Ross CA, Taschuk M, Wieben ED, Wiepert M, Wildman DE, Mainzer LS. Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy. Front Genet. 2019; 10:736 Epub 2019 Aug 20
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Hart SN. Will Digital Pathology be as Disruptive as Genomics? J Pathol Inform. 2018; 9:27 Epub 2018 July 19
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Slavin TP, Maxwell KN, Lilyquist J, Vijai J, Neuhausen SL, Hart SN, Ravichandran V, Thomas T, Maria A, Villano D, Schrader KA, Moore R, Hu C, Wubbenhorst B, Wenz BM, D'Andrea K, Robson ME, Peterlongo P, Bonanni B, Ford JM, Garber JE, Domchek SM, Szabo C, Offit K, Nathanson KL, Weitzel JN, Couch FJ. The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk. NPJ Breast Cancer. 2017; 3:22 Epub 2017 June 09
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Liu J, Loncar I, Collee JM, Bolla MK, Dennis J, Michailidou K, Wang Q, Andrulis IL, Barile M, Beckmann MW, Behrens S, Benitez J, Blomqvist C, Boeckx B, Bogdanova NV, Bojesen SE, Brauch H, Brennan P, Brenner H, Broeks A, Burwinkel B, Chang-Claude J, Chen ST, Chenevix-Trench G, Cheng CY, Choi JY, Couch FJ, Cox A, Cross SS, Cuk K, Czene K, Dork T, Dos-Santos-Silva I, Fasching PA, Figueroa J, Flyger H, Garcia-Closas M, Giles GG, Glendon G, Goldberg MS, Gonzalez-Neira A, Guenel P, Haiman CA, Hamann U, Hart SN, Hartman M, Hatse S, Hopper JL, Ito H, Jakubowska A, Kabisch M, Kang D, Kosma VM, Kristensen VN, Le Marchand L, Lee E, Li J, Lophatananon A, Jan Lubinski Lubinski, Mannermaa A, Matsuo K, Milne RL, Neuhausen SL, Nevanlinna H, Orr N, Perez JI, Peto J, Putti TC, Pylkas K, Radice P, Sangrajrang S, Sawyer EJ, Schmidt MK, Schneeweiss A, Shen CY, Shrubsole MJ, Shu XO, Simard J, Southey MC, Swerdlow A, Teo SH, Tessier DC, Thanasitthichai S, Tomlinson I, Torres D, Truong T, Tseng CC, Vachon C, Winqvist R, Wu AH, Yannoukakos D, Zheng W, Hall P, Dunning AM, Easton DF, Hooning MJ, van den Ouweland AM, Martens JW, Hollestelle A, NBCS Collaborators. rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk. Sci Rep. 2016 Nov 15; 6:36874
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Vijai J, Topka S, Villano D, Ravichandran V, Maxwell KN, Maria A, Thomas T, Gaddam P, Lincoln A, Kazzaz S, Wenz B, Carmi S, Schrader KA, Hart SN, Lipkin SM, Neuhausen SL, Walsh MF, Zhang L, Lejbkowicz F, Rennert H, Stadler ZK, Robson M, Weitzel JN, Domchek S, Daly MJ, Couch FJ, Nathanson KL, Norton L, Rennert G, Offit K. A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer. Cancer Discov. 2016 Nov; 6 (11):1267-1275 Epub 2016 Sept 21
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Muranen TA, Blomqvist C, Dork T, Jakubowska A, Heikkila P, Fagerholm R, Greco D, Aittomaki K, Bojesen SE, Shah M, Dunning AM, Rhenius V, Hall P, Czene K, Brand JS, Darabi H, Chang-Claude J, Rudolph A, Nordestgaard BG, Couch FJ, Hart SN, Figueroa J, Garcia-Closas M, Fasching PA, Beckmann MW, Li J, Liu J, Andrulis IL, Winqvist R, Pylkas K, Mannermaa A, Kataja V, Lindblom A, Margolin S, Lubinski J, Dubrowinskaja N, Bolla MK, Dennis J, Michailidou K, Wang Q, Easton DF, Pharoah PD, Schmidt MK, Nevanlinna H. Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium. Breast Cancer Res. 2016 Oct 3; 18 (1):98 Epub 2016 Oct 03
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Zeng C, Guo X, Long J, Kuchenbaecker KB, Droit A, Michailidou K, Ghoussaini M, Kar S, Freeman A, Hopper JL, Milne RL, Bolla MK, Wang Q, Dennis J, Agata S, Ahmed S, Aittomaki K, Andrulis IL, Anton-Culver H, Antonenkova NN, Arason A, Arndt V, Arun BK, Arver B, Bacot F, Barrowdale D, Baynes C, Beeghly-Fadiel A, Benitez J, Bermisheva M, Blomqvist C, Blot WJ, Bogdanova NV, Bojesen SE, Bonanni B, Borresen-Dale AL, Brand JS, Brauch H, Brennan P, Brenner H, Broeks A, Bruning T, Burwinkel B, Buys SS, Cai Q, Caldes T, Campbell I, Carpenter J, Chang-Claude J, Choi JY, Claes KB, Clarke C, Cox A, Cross SS, Czene K, Daly MB, de la Hoya M, De Leeneer K, Devilee P, Diez O, Domchek SM, Doody M, Dorfling CM, Dork T, Dos-Santos-Silva I, Dumont M, Dwek M, Dworniczak B, Egan K, Eilber U, Einbeigi Z, Ejlertsen B, Ellis S, Frost D, Lalloo F, Fasching PA, Figueroa J, Flyger H, Friedlander M, Friedman E, Gambino G, Gao YT, Garber J, Garcia-Closas M, Gehrig A, Damiola F, Lesueur F, Mazoyer S, Stoppa-Lyonnet D, Giles GG, Godwin AK, Goldgar DE, Gonzalez-Neira A, Greene MH, Guenel P, Haeberle L, Haiman CA, Hallberg E, Hamann U, Hansen TV, Hart S, Hartikainen JM, Hartman M, Hassan N, Healey S, Hogervorst FB, Verhoef S, Hendricks CB, Hillemanns P, Hollestelle A, Hulick PJ, Hunter DJ, Imyanitov EN, Isaacs C, Ito H, Jakubowska A, Janavicius R, Jaworska-Bieniek K, Jensen UB, John EM, Joly Beauparlant C, Jones M, Kabisch M, Kang D, Karlan BY, Kauppila S, Kerin MJ, Khan S, Khusnutdinova E, Knight JA, Konstantopoulou I, Kraft P, Kwong A, Laitman Y, Lambrechts D, Lazaro C, Le Marchand L, Lee CN, Lee MH, Lester J, Li J, Liljegren A, Lindblom A, Lophatananon A, Lubinski J, Mai PL, Mannermaa A, Manoukian S, Margolin S, Marme F, Matsuo K, McGuffog L, Meindl A, Menegaux F, Montagna M, Muir K, Mulligan AM, Nathanson KL, Neuhausen SL, Nevanlinna H, Newcomb PA, Nord S, Nussbaum RL, Offit K, Olah E, Olopade OI, Olswold C, Osorio A, Papi L, Park-Simon TW, Paulsson-Karlsson Y, Peeters S, Peissel B, Peterlongo P, Peto J, Pfeiler G, Phelan CM, Presneau N, Radice P, Rahman N, Ramus SJ, Rashid MU, Rennert G, Rhiem K, Rudolph A, Salani R, Sangrajrang S, Sawyer EJ, Schmidt MK, Schmutzler RK, Schoemaker MJ, Schurmann P, Seynaeve C, Shen CY, Shrubsole MJ, Shu XO, Sigurdson A, Singer CF, Slager S, Soucy P, Southey M, Steinemann D, Swerdlow A, Szabo CI, Tchatchou S, Teixeira MR, Teo SH, Terry MB, Tessier DC, Teule A, Thomassen M, Tihomirova L, Tischkowitz M, Toland AE, Tung N, Turnbull C, van den Ouweland AM, van Rensburg EJ, Ven den Berg D, Vijai J, Wang-Gohrke S, Weitzel JN, Whittemore AS, Winqvist R, Wong TY, Wu AH, Yannoukakos D, Yu JC, Pharoah PD, Hall P, Chenevix-Trench G, Dunning AM, Simard J, Couch FJ, Antoniou AC, Easton DF, Zheng W, EMBRACE//behalf of GEMO Study Collaborators//HEBON//KConFab//AOCS Investigators. Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. Breast Cancer Res. 2016 Jun 21; 18 (1):64 Epub 2016 June 21
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Hall JC, Marlow LA, Mathias AC, Dawson LK, Durham WF, Meshaw KA, Mullin RJ, Synnott AJ, Small DL, Krishna M, von Hoff D, Schuler J, Hart SN, Couch FJ, Colon-Otero G, Copland JA. Novel patient-derived xenograft mouse model for pancreatic acinar cell carcinoma demonstrates single agent activity of oxaliplatin. J Transl Med. 2016 May 10; 14 (1):129
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Maxwell KN, Hart SN, Vijai J, Schrader KA, Slavin TP, Thomas T, Wubbenhorst B, Ravichandran V, Moore RM, Hu C, Guidugli L, Wenz B, Domchek SM, Robson ME, Szabo C, Neuhausen SL, Weitzel JN, Offit K, Couch FJ, Nathanson KL. Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet. 2016 May 5; 98 (5):801-817
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Easton DF, Lesueur F, Decker B, Michailidou K, Li J, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, Wang Q, Dennis J, Ahmad J, Thompson ER, Damiola F, Pertesi M, Voegele C, Mebirouk N, Robinot N, Durand G, Forey N, Luben RN, Ahmed S, Aittomaki K, Anton-Culver H, Arndt V, Baynes C, Beckman MW, Benitez J, Van Den Berg D, Blot WJ, Bogdanova NV, Bojesen SE, Brenner H, Chang-Claude J, Chia KS, Choi JY, Conroy DM, Cox A, Cross SS, Czene K, Darabi H, Devilee P, Eriksson M, Fasching PA, Figueroa J, Flyger H, Fostira F, Garcia-Closas M, Giles GG, Glendon G, Gonzalez-Neira A, Guenel P, Haiman CA, Hall P, Hart SN, Hartman M, Hooning MJ, Hsiung CN, Ito H, Jakubowska A, James PA, John EM, Johnson N, Jones M, Kabisch M, Kang D, Kosma VM, Kristensen V, Lambrechts D, Li N, Lindblom A, Long J, Lophatananon A, Lubinski J, Mannermaa A, Manoukian S, Margolin S, Matsuo K, Meindl A, Mitchell G, Muir K, Nevelsteen I, van den Ouweland A, Peterlongo P, Phuah SY, Pylkas K, Rowley SM, Sangrajrang S, Schmutzler RK, Shen CY, Shu XO, Southey MC, Surowy H, Swerdlow A, Teo SH, Tollenaar RA, Tomlinson I, Torres D, Truong T, Vachon C, Verhoef S, Wong-Brown M, Zheng W, Zheng Y, Nevanlinna H, Scott RJ, Andrulis IL, Wu AH, Hopper JL, Couch FJ, Winqvist R, Burwinkel B, Sawyer EJ, Schmidt MK, Rudolph A, Dork T, Brauch H, Hamann U, Neuhausen SL, Milne RL, Fletcher O, Pharoah PD, Campbell IG, Dunning AM, Le Calvez-Kelm F, Goldgar DE, Tavtigian SV, Chenevix-Trench G, Australian Ovarian Cancer Study Group//kConFab Investigators//Lifepool Investigators//NBCS Investigators. No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. J Med Genet. 2016 May; 53 (5):298-309 Epub 2016 Feb 26
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Couch FJ, Kuchenbaecker KB, Michailidou K, Mendoza-Fandino GA, Nord S, Lilyquist J, Olswold C, Hallberg E, Agata S, Ahsan H, Aittomaki K, Ambrosone C, Andrulis IL, Anton-Culver H, Arndt V, Arun BK, Arver B, Barile M, Barkardottir RB, Barrowdale D, Beckmann L, Beckmann MW, Benitez J, Blank SV, Blomqvist C, Bogdanova NV, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Brenner H, Burwinkel B, Buys SS, Caldes T, Caligo MA, Canzian F, Carpenter J, Chang-Claude J, Chanock SJ, Chung WK, Claes KB, Cox A, Cross SS, Cunningham JM, Czene K, Daly MB, Damiola F, Darabi H, de la Hoya M, Devilee P, Diez O, Ding YC, Dolcetti R, Domchek SM, Dorfling CM, Dos-Santos-Silva I, Dumont M, Dunning AM, Eccles DM, Ehrencrona H, Ekici AB, Eliassen H, Ellis S, Fasching PA, Figueroa J, Flesch-Janys D, Forsti A, Fostira F, Foulkes WD, Friebel T, Friedman E, Frost D, Gabrielson M, Gammon MD, Ganz PA, Gapstur SM, Garber J, Gaudet MM, Gayther SA, Gerdes AM, Ghoussaini M, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, Gonzalez-Neira A, Greene MH, Gronwald J, Guenel P, Gunter M, Haeberle L, Haiman CA, Hamann U, Hansen TV, Hart S, Healey S, Heikkinen T, Henderson BE, Herzog J, Hogervorst FB, Hollestelle A, Hooning MJ, Hoover RN, Hopper JL, Humphreys K, Hunter DJ, Huzarski T, Imyanitov EN, Isaacs C, Jakubowska A, James P, Janavicius R, Jensen UB, John EM, Jones M, Kabisch M, Kar S, Karlan BY, Khan S, Khaw KT, Kibriya MG, Knight JA, Ko YD, Konstantopoulou I, Kosma VM, 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 PL, Makalic E, Malone KE, Mannermaa A, Manoukian S, Margolin S, Marme F, Martens JW, McGuffog L, Meindl A, Miller A, Milne RL, Miron P, Montagna M, Mazoyer S, Mulligan AM, Muranen TA, Nathanson KL, Neuhausen SL, Nevanlinna H, Nordestgaard BG, Nussbaum RL, Offit K, Olah E, Olopade OI, Olson JE, Osorio A, Park SK, Peeters PH, Peissel B, Peterlongo P, Peto J, Phelan CM, Pilarski R, Poppe B, Pylkas K, Radice P, Rahman N, Rantala J, Rappaport C, Rennert G, Richardson A, Robson M, Romieu I, Rudolph A, Rutgers EJ, Sanchez MJ, Santella RM, Sawyer EJ, Schmidt DF, Schmidt MK, Schmutzler RK, Schumacher F, Scott R, Senter L, Sharma P, Simard J, Singer CF, Sinilnikova OM, Soucy P, Southey M, Steinemann D, Stenmark-Askmalm M, Stoppa-Lyonnet D, Swerdlow A, Szabo CI, Tamimi R, Tapper W, Teixeira MR, Teo SH, Terry MB, Thomassen M, Thompson D, Tihomirova L, Toland AE, Tollenaar RA, Tomlinson I, Truong T, Tsimiklis H, Teule A, Tumino R, Tung N, Turnbull C, Ursin G, van Deurzen CH, van Rensburg EJ, Varon-Mateeva R, Wang Z, Wang-Gohrke S, Weiderpass E, Weitzel JN, Whittemore A, Wildiers H, Winqvist R, Yang XR, Yannoukakos D, Yao S, Zamora MP, Zheng W, Hall P, Kraft P, Vachon C, Slager S, Chenevix-Trench G, Pharoah PD, Monteiro AA, Garcia-Closas M, Easton DF, Antoniou AC. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. Nat Commun. 2016 Apr 27; 7:11375
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Hart SN, Ellingson MS, Schahl K, Vedell PT, Carlson RE, Sinnwell JP, Barman P, Sicotte H, Eckel-Passow JE, Wang L, Kalari KR, Qin R, Kruisselbrink TM, Jimenez RE, Bryce AH, Tan W, Weinshilboum R, Wang L, Kohli M. Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer. BMJ Open. 2016 Apr 15; 6(4):e010332.
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Hart SN, Duffy P, Quest DJ, Hossain A, Meiners MA, Kocher JP. VCF-Miner: GUI-based application for mining variants and annotations stored in VCF files. Brief Bioinform. 2016 Mar; 17: (2)346-51.
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Murphy SJ, Hart SN, Halling GC, Johnson SH, Smadbeck JB, Drucker T, Lima JF, Rohakhtar FR, Harris FR, Kosari F, Subramanian S, Petersen GM, Wiltshire TD, Kipp BR, Truty MJ, McWilliams RR, Couch FJ, Vasmatzis G. Integrated Genomic Analysis of Pancreatic Ductal Adenocarcinomas Reveals Genomic Rearrangement Events as Significant Drivers of Disease. Cancer Res. 2016 Feb 1; 76 (3):749-61 Epub 2015 Dec 16
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Meeks HD, Song H, Michailidou K, Bolla MK, Dennis J, Wang Q, Barrowdale D, Frost D, McGuffog L, Ellis S, Feng B, Buys SS, Hopper JL, Southey MC, Tesoriero A, James PA, Bruinsma F, Campbell IG, Broeks A, Schmidt MK, Hogervorst FB, Beckman MW, Fasching PA, Fletcher O, Johnson N, Sawyer EJ, Riboli E, Banerjee S, Menon U, Tomlinson I, Burwinkel B, Hamann U, Marme F, Rudolph A, Janavicius R, Tihomirova L, Tung N, Garber J, Cramer D, Terry KL, Poole EM, Tworoger SS, Dorfling CM, van Rensburg EJ, Godwin AK, Guenel P, Truong T, Stoppa-Lyonnet D, Damiola F, Mazoyer S, Sinilnikova OM, Isaacs C, Maugard C, Bojesen SE, Flyger H, Gerdes AM, Hansen TV, Jensen A, Kjaer SK, Hogdall C, Hogdall E, Pedersen IS, Thomassen M, Benitez J, Gonzalez-Neira A, Osorio A, Hoya, Segura PP, Diez O, Lazaro C, Brunet J, Anton-Culver H, Eunjung L, John EM, Neuhausen SL, Ding YC, Castillo D, Weitzel JN, Ganz PA, Nussbaum RL, Chan SB, Karlan BY, Lester J, Wu A, Gayther S, Ramus SJ, Sieh W, Whittermore AS, Monteiro AN, Phelan CM, Terry MB, Piedmonte M, Offit K, Robson M, Levine D, Moysich KB, Cannioto R, Olson SH, Daly MB, Nathanson KL, Domchek SM, Lu KH, Liang D, Hildebrant MA, Ness R, Modugno F, Pearce L, Goodman MT, Thompson PJ, Brenner H, Butterbach K, Meindl A, Hahnen E, Wappenschmidt B, Brauch H, Bruning T, Blomqvist C, Khan S, Nevanlinna H, Pelttari LM, Aittomaki K, Butzow R, Bogdanova NV, Dork T, Lindblom A, Margolin S, Rantala J, Kosma VM, Mannermaa A, Lambrechts D, Neven P, Claes KB, Maerken TV, Chang-Claude J, Flesch-Janys D, Heitz F, Varon-Mateeva R, Peterlongo P, Radice P, Viel A, Barile M, Peissel B, Manoukian S, Montagna M, Oliani C, Peixoto A, Teixeira MR, Collavoli A, Hallberg E, Olson JE, Goode EL, Hart SN, Shimelis H, Cunningham JM, Giles GG, Milne RL, Healey S, Tucker K, Haiman CA, Henderson BE, Goldberg MS, Tischkowitz M, Simard J, Soucy P, Eccles DM, Le N, Borresen-Dale AL, Kristensen V, Salvesen HB, Bjorge L, Bandera EV, Risch H, Zheng W, Beeghly-Fadiel A, Cai H, Pylkas K, Tollenaar RA, Ouweland AM, Andrulis IL, Knight JA, Narod S, Devilee P, Winqvist R, Figueroa J, Greene MH, Mai PL, Loud JT, Garcia-Closas M, Schoemaker MJ, Czene K, Darabi H, McNeish I, Siddiquil N, Glasspool R, Kwong A, Park SK, Teo SH, Yoon SY, Matsuo K, Hosono S, Woo YL, Gao YT, Foretova L, Singer CF, Rappaport-Feurhauser C, Friedman E, Laitman Y, Rennert G, Imyanitov EN, Hulick PJ, Olopade OI, Senter L, Olah E, Doherty JA, Schildkraut J, Koppert LB, Kiemeney LA, Massuger LF, Cook LS, Pejovic T, Li J, Borg A, Ofverholm A, Rossing MA, Wentzensen N, Henriksson K, Cox A, Cross SS, Pasini BJ, Shah M, Kabisch M, Torres D, Jakubowska A, Lubinski J, Gronwald J, Agnarsson BA, Kupryjanczyk J, Moes-Sosnowska J, Fostira F, Konstantopoulou I, Slager S, Jones M, Antoniou AC, Berchuck A, Swerdlow A, Chenevix-Trench G, Dunning AM, Pharoah PD, Hall P, Easton DF, Couch FJ, Spurdle AB, Goldgar DE, EMBRACE//kConFab Investigators//Australia Ovarian Cancer Study Group//HEBON//GEMO Study Collaborators//OCGN//PRostate cancer AssoCiation group To Investigate Cancer Associated aLterations in the genome. BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers. J Natl Cancer Inst. 2016 Feb; 108: (2).
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Hu C, Hart SN, Bamlet WR, Moore RM, Nandakumar K, Eckloff BW, Lee YK, Petersen GM, McWilliams RR, Couch FJ. Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients. Cancer Epidemiol Biomarkers Prev. 2016 Jan; 25 (1):207-11 Epub 2015 Oct 19
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Hart SN, Maxwell KN, Thomas T, Ravichandran V, Wubberhorst B, Klein RJ, Schrader K, Szabo C, Weitzel JN, Neuhausen SL, Nathanson K, Offit K, Couch FJ, Vijai J. 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. Brief Bioinform. 2015 Sep 10;
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Ellingson MS, Hart SN, Kalari KR, Suman V, Schahl KA, Dockter TJ, Felten SJ, Sinnwell JP, Thompson KJ, Tang X, Vedell PT, Barman P, Sicotte H, Eckel-Passow JE, Northfelt DW, Gray RJ, McLaughlin SA, Moreno-Aspitia A, Ingle JN, Moyer AM, Visscher DW, Jones K, Conners A, McDonough M, Wieben ED, Wang L, Weinshilboum R, Boughey JC, Goetz MP. Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy. Breast Cancer Res Treat. 2015 Sep; 153 (2):435-43 Epub 2015 Aug 22
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Chien J, Sicotte H, Fan JB, Humphray S, Cunningham JM, Kalli KR, Oberg AL, Hart SN, Li Y, Davila JI, Baheti S, Wang C, Dietmann S, Atkinson EJ, Asmann YW, Bell DA, Ota T, Tarabishy Y, Kuang R, Bibikova M, Cheetham RK, Grocock RJ, Swisher EM, Peden J, Bentley D, Kocher JP, Kaufmann SH, Hartmann LC, Shridhar V, Goode EL. TP53 mutations, tetraploidy and homologous recombination repair defects in early stage high-grade serous ovarian cancer. Nucleic Acids Res. 2015 Aug 18; 43 (14):6945-58 Epub 2015 Apr 27
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Couch FJ, Hart SN, Sharma P, Toland AE, Wang X, Miron P, Olson JE, Godwin AK, Pankratz VS, Olswold C, Slettedahl S, Hallberg E, Guidugli L, Davila JI, Beckmann MW, Janni W, Rack B, Ekici AB, Slamon DJ, Konstantopoulou I, Fostira F, Vratimos A, Fountzilas G, Pelttari LM, Tapper WJ, Durcan L, Cross SS, Pilarski R, Shapiro CL, Klemp J, Yao S, Garber J, Cox A, Brauch H, Ambrosone C, Nevanlinna H, Yannoukakos D, Slager SL, Vachon CM, Eccles DM, Fasching PA. Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. J Clin Oncol. 2015 Feb 1; 33 (4):304-11 Epub 2014 Dec 01
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Kohli M, Wang L, Xie F, Sicotte H, Yin P, Dehm SM, Hart SN, Vedell PT, Barman P, Qin R, Mahoney DW, Carlson RE, Eckel-Passow JE, Atwell TD, Eiken PW, McMenomy BP, Wieben ED, Jha G, Jimenez RE, Weinshilboum R, Wang L. Mutational Landscapes of Sequential Prostate Metastases and Matched Patient Derived Xenografts during Enzalutamide Therapy. PLoS One. 2015; 10 (12):e0145176 Epub 2015 Dec 22
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Penheiter AR, Erdogan S, Murphy SJ, Hart SN, Felipe Lima J, Rakhshan Rohakhtar F, O'Brien DR, Bamlet WR, Wuertz RE, Smyrk TC, Couch FJ, Vasmatzis G, Bender CE, Carlson SK. Transcriptomic and Immunohistochemical Profiling of SLC6A14 in Pancreatic Ductal Adenocarcinoma. Biomed Res Int. 2015; 2015:593572 Epub 2015 May 27
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Hart SN, Moore RM, Zimmermann MT, Oliver GR, Egan JB, Bryce AH, Kocher JA. PANDA: pathway and annotation explorer for visualizing and interpreting gene-centric data. PeerJ. 2015; 3:e970 Epub 2015 May 19
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Oliver GR, Hart SN, Klee EW. Bioinformatics for clinical next generation sequencing. Clin Chem. 2015 Jan; 61 (1):124-35 Epub 2014 Dec 01
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Mansfield AS, Visscher DW, Hart SN, Wang C, Goetz MP, Oxvig C, Conover CA. Pregnancy-associated plasma protein-A expression in human breast cancer. Growth Horm IGF Res. 2014 Dec; 24(6):264-7.
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Kiiski JI, Pelttari LM, Khan S, Freysteinsdottir ES, Reynisdottir I, Hart SN, Shimelis H, Vilske S, Kallioniemi A, Schleutker J, Leminen A, Butzow R, Blomqvist C, Barkardottir RB, Couch FJ, Aittomaki K, Nevanlinna H. Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer. Proc Natl Acad Sci U S A. 2014 Oct 21; 111 (42):15172-7 Epub 2014 Oct 06
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Wang C, Evans JM, Bhagwate AV, Prodduturi N, Sarangi V, Middha M, Sicotte H, Vedell PT, Hart SN, Oliver GR, Kocher JP, Maurer MJ, Novak AJ, Slager SL, Cerhan JR, Asmann YW. PatternCNV: a versatile tool for detecting copy number changes from exome sequencing data. Bioinformatics. 2014 Sep 15; 30 (18):2678-80 Epub 2014 May 29
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Graham RP, Barr Fritcher EG, Pestova E, Schulz J, Sitailo LA, Vasmatzis G, Murphy SJ, McWilliams RR, Hart SN, Halling KC, Roberts LR, Gores GJ, Couch FJ, Zhang L, Borad MJ, Kipp BR. Fibroblast growth factor receptor 2 translocations in intrahepatic cholangiocarcinoma. Hum Pathol. 2014 Aug; 45(8):1630-8. Epub 2014 Apr 13.
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Kocher JP, Quest DJ, Duffy P, Meiners MA, Moore RM, Rider D, Hossain A, Hart SN, Dinu V. The Biological Reference Repository (BioR): a rapid and flexible system for genomics annotation. Bioinformatics. 2014 Jul 1; 30 (13):1920-2 Epub 2014 Mar 10
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Eckel-Passow JE, Serie DJ, Bot BM, Joseph RW, Hart SN, Cheville JC, Parker AS. Somatic expression of ENRAGE is associated with obesity status among patients with clear cell renal cell carcinoma. Carcinogenesis. 2014 Apr; 35 (4):822-7 Epub 2013 Dec 28
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Ansell SM, Hodge LS, Secreto FJ, Manske M, Braggio E, Price-Troska T, Ziesmer S, Li Y, Johnson SH, Hart SN, Kocher JP, Vasmatzis G, Chanan-Kahn A, Gertz M, Fonseca R, Dogan A, Cerhan JR, Novak AJ. Activation of TAK1 by MYD88 L265P drives malignant B-cell Growth in non-Hodgkin lymphoma. Blood Cancer J. 2014 Feb 14; 4:e183
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Kuchenbaecker KB, Neuhausen SL, Robson M, Barrowdale D, McGuffog L, Mulligan AM, Andrulis IL, Spurdle AB, Schmidt MK, Schmutzler RK, Engel C, Wappenschmidt B, Nevanlinna H, Thomassen M, Southey M, Radice P, Ramus SJ, Domchek SM, Nathanson KL, Lee A, Healey S, Nussbaum RL, Rebbeck TR, Arun BK, James P, Karlan BY, Lester J, Cass I, Terry MB, Daly MB, Goldgar DE, Buys SS, Janavicius R, Tihomirova L, Tung N, Dorfling CM, van Rensburg EJ, Steele L, v O Hansen T, Ejlertsen B, Gerdes AM, Nielsen FC, Dennis J, Cunningham J, Hart S, Slager S, Osorio A, Benitez J, Duran M, Weitzel JN, 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 MG, Giannini G, Fostira F, Konstantopoulou I, Garber J, Hamann U, Donaldson A, Brewer C, Foo C, Evans DG, Frost D, Eccles D, Douglas F, Brady A, Cook J, Tischkowitz M, Adlard J, Barwell J, Ong KR, Walker L, Izatt L, Side LE, Kennedy MJ, Rogers MT, Porteous ME, Morrison PJ, Platte R, Eeles R, Davidson R, Hodgson S, Ellis S, Godwin AK, 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 OM, Mazoyer S, Bonadona V, Caux-Moncoutier V, Isaacs C, Van Maerken T, Claes K, Piedmonte M, Andrews L, Hays J, Rodriguez GC, Caldes T, de la Hoya M, Khan S, Hogervorst FB, Aalfs CM, de Lange JL, Meijers-Heijboer HE, van der Hout AH, Wijnen JT, van Roozendaal KE, Mensenkamp AR, van den Ouweland AM, van Deurzen CH, van der Luijt RB, Olah E, Diez O, Lazaro C, Blanco I, Teule 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 MR, Olswold C, Lindor N, Pankratz VS, Hallberg E, Wang X, Szabo CI, Vijai J, Jacobs L, Corines M, Lincoln A, Berger A, Fink-Retter A, Singer CF, Rappaport C, Kaulich DG, Pfeiler G, Tea MK, Phelan CM, Mai PL, Greene MH, Rennert G, Imyanitov EN, Glendon G, Toland AE, Bojesen A, Pedersen IS, Jensen UB, Caligo MA, Friedman E, Berger R, Laitman Y, Rantala J, Arver B, Loman N, Borg A, Ehrencrona H, Olopade OI, Simard J, Easton DF, Chenevix-Trench G, Offit K, Couch FJ, Antoniou AC, Breast Cancer Family Registry//EMBRACE Study//GEMO Study Collaborators//HEBON//KConFab Investigators//CIMBA. Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res. 2014; 16: (6)3416.
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Middha S, Baheti S, Hart SN, Kocher JP. From days to hours: reporting clinically actionable variants from whole genome sequencing. PLoS One. 2014; 9 (2):e86803 Epub 2014 Feb 05
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Leonard B, Hart SN, Burns MB, Carpenter MA, Temiz NA, Rathore A, Vogel RI, Nikas JB, Law EK, Brown WL, Li Y, Zhang Y, Maurer MJ, Oberg AL, Cunningham JM, Shridhar V, Bell DA, April C, Bentley D, Bibikova M, Cheetham RK, Fan JB, Grocock R, Humphray S, Kingsbury Z, Peden J, Chien J, Swisher EM, Hartmann LC, Kalli KR, Goode EL, Sicotte H, Kaufmann SH, Harris RS. APOBEC3B upregulation and genomic mutation patterns in serous ovarian carcinoma. Cancer Res. 2013 Dec 15; 73 (24):7222-31 Epub 2013 Oct 23
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Hart SN, Therneau TM, Zhang Y, Poland GA, Kocher JP. Calculating sample size estimates for RNA sequencing data. J Comput Biol. 2013 Dec; 20 (12):970-8 Epub 2013 Aug 20
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Murphy SJ, Hart SN, Lima JF, Kipp BR, Klebig M, Winters JL, Szabo C, Zhang L, Eckloff BW, Petersen GM, Scherer SE, Gibbs RA, McWilliams RR, Vasmatzis G, Couch FJ. Genetic alterations associated with progression from pancreatic intraepithelial neoplasia to invasive pancreatic tumor. Gastroenterology. 2013 Nov; 145 (5):1098-1109.e1 Epub 2013 Aug 02
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Thomas AM, Hart SN, Li G, Lu H, Fang Y, Fang J, Zhong XB, Guo GL. Hepatocyte nuclear factor 4 alpha and farnesoid X receptor co-regulates gene transcription in mouse livers on a genome-wide scale. Pharm Res. 2013 Sep; 30: (9)2188-98.
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Hart SN, Sarangi V, Moore R, Baheti S, Bhavsar JD, Couch FJ, Kocher JP. SoftSearch: integration of multiple sequence features to identify breakpoints of structural variations. PLoS One. 2013; 8 (12):e83356 Epub 2013 Dec 16
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Couch FJ, Wang X, McGuffog L, Lee A, Olswold C, Kuchenbaecker KB, Soucy P, Fredericksen Z, Barrowdale D, Dennis J, Gaudet MM, Dicks E, Kosel M, Healey S, Sinilnikova OM, Lee A, Bacot F, Vincent D, Hogervorst FB, Peock S, Stoppa-Lyonnet D, Jakubowska A, Radice P, Schmutzler RK, Domchek SM, Piedmonte M, Singer CF, Friedman E, Thomassen M, Hansen TV, Neuhausen SL, Szabo CI, Blanco I, Greene MH, Karlan BY, Garber J, Phelan CM, Weitzel JN, Montagna M, Olah E, Andrulis IL, Godwin AK, Yannoukakos D, Goldgar DE, Caldes T, Nevanlinna H, Osorio A, Terry MB, Daly MB, van Rensburg EJ, Hamann U, Ramus SJ, Toland AE, Caligo MA, Olopade OI, Tung N, Claes K, Beattie MS, Southey MC, Imyanitov EN, Tischkowitz M, Janavicius R, John EM, Kwong A, Diez O, Balmana J, Barkardottir RB, Arun BK, Rennert G, Teo SH, Ganz PA, Campbell I, van der Hout AH, van Deurzen CH, Seynaeve C, Gomez Garcia EB, van Leeuwen FE, Meijers-Heijboer HE, Gille JJ, Ausems MG, Blok MJ, Ligtenberg MJ, Rookus MA, Devilee P, Verhoef S, van Os TA, Wijnen JT, Frost D, Ellis S, Fineberg E, Platte R, Evans DG, Izatt L, Eeles RA, Adlard J, Eccles DM, Cook J, Brewer C, Douglas F, Hodgson S, Morrison PJ, Side LE, Donaldson A, Houghton C, Rogers MT, Dorkins H, Eason J, Gregory H, McCann E, Murray A, Calender A, Hardouin A, Berthet P, Delnatte C, Nogues C, Lasset C, Houdayer C, Leroux D, Rouleau E, Prieur F, Damiola F, Sobol H, Coupier I, Venat-Bouvet L, Castera L, Gauthier-Villars M, Leone M, Pujol P, Mazoyer S, Bignon YJ, Zlowocka-Perlowska E, Gronwald J, Lubinski J, Durda K, Jaworska K, Huzarski T, Spurdle AB, Viel A, Peissel B, Bonanni B, Melloni G, Ottini L, Papi L, Varesco L, Tibiletti MG, Peterlongo P, Volorio S, Manoukian S, Pensotti V, Arnold N, Engel C, Deissler H, Gadzicki D, Gehrig A, Kast K, Rhiem K, Meindl A, Niederacher D, Ditsch N, Plendl H, Preisler-Adams S, Engert S, Sutter C, Varon-Mateeva R, Wappenschmidt B, Weber BH, Arver B, Stenmark-Askmalm M, Loman N, Rosenquist R, Einbeigi Z, Nathanson KL, Rebbeck TR, Blank SV, Cohn DE, Rodriguez GC, Small L, Friedlander M, Bae-Jump VL, Fink-Retter A, Rappaport C, Gschwantler-Kaulich D, Pfeiler G, Tea MK, Lindor NM, Kaufman B, Shimon Paluch S, Laitman Y, Skytte AB, Gerdes AM, Pedersen IS, Moeller ST, Kruse TA, Jensen UB, Vijai J, Sarrel K, Robson M, Kauff N, Mulligan AM, Glendon G, Ozcelik H, Ejlertsen B, Nielsen FC, Jonson L, Andersen MK, Ding YC, Steele L, Foretova L, Teule A, Lazaro C, Brunet J, Pujana MA, Mai PL, Loud JT, Walsh C, Lester J, Orsulic S, Narod SA, Herzog J, Sand SR, Tognazzo S, Agata S, Vaszko T, Weaver J, Stavropoulou AV, Buys SS, Romero A, de la Hoya M, Aittomaki K, Muranen TA, Duran M, Chung WK, Lasa A, Dorfling CM, Miron A, Benitez J, Senter L, Huo D, Chan SB, Sokolenko AP, Chiquette J, Tihomirova L, Friebel TM, Agnarsson BA, Lu KH, Lejbkowicz F, James PA, Hall P, Dunning AM, Cunningham J, Cunningham J, Slager SL, Wang C, Hart S, et al, kConFab Investigators//SWE-BRCA//Ontario Cancer Genetics Network//HEBON//EMBRACE//GEMO Study Collaborators//BCFR//CIMBA, Pankratz VS. Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. PLoS Genet. 2013; 9 (3):e1003212 Epub 2013 Mar 27
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Li D, Gaedigk R, Hart SN, Leeder JS, Zhong XB. The role of CYP3A4 mRNA transcript with shortened 3'-untranslated region in hepatocyte differentiation, liver development, and response to drug induction. Mol Pharmacol. 2012 Jan; 81: (1)86-96.
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Kalari KR, Rossell D, Necela BM, Asmann YW, Nair A, Baheti S, Kachergus JM, Younkin CS, Baker T, Carr JM, Tang X, Walsh MP, Chai HS, Sun Z, Hart SN, Leontovich AA, Hossain A, Kocher JP, Perez EA, Reisman DN, Fields AP, Thompson EA. Deep Sequence Analysis of Non-Small Cell Lung Cancer: Integrated Analysis of Gene Expression, Alternative Splicing, and Single Nucleotide Variations in Lung Adenocarcinomas with and without Oncogenic KRAS Mutations. Front Oncol. 2012; 2:12 Epub 2012 Feb 10
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Li G, Thomas AM, Hart SN, Zhong X, Wu D, Guo GL. Farnesoid X receptor activation mediates head-to-tail chromatin looping in the Nr0b2 gene encoding small heterodimer partner. Mol Endocrinol. 2010 Jul; 24: (7)1404-12.
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Hart SN, Li Y, Nakamoto K, Subileau EA, Steen D, Zhong XB. A comparison of whole genome gene expression profiles of HepaRG cells and HepG2 cells to primary human hepatocytes and human liver tissues. Drug Metab Dispos. 2010 Jun; 38: (6)988-94.
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Thomas AM, Hart SN, Kong B, Fang J, Zhong XB, Guo GL. Genome-wide tissue-specific farnesoid X receptor binding in mouse liver and intestine. Hepatology. 2010 Apr; 51: (4)1410-9.
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Li Y, Cui Y, Hart SN, Klaassen CD, Zhong XB. Dynamic patterns of histone methylation are associated with ontogenic expression of the Cyp3a genes during mouse liver maturation. Mol Pharmacol. 2009 May; 75: (5)1171-9.
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Hart SN, Cui Y, Klaassen CD, Zhong XB. Three patterns of cytochrome P450 gene expression during liver maturation in mice. Drug Metab Dispos. 2009 Jan; 37: (1)116-21.
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Hart SN, Zhong XB. P450 oxidoreductase: genetic polymorphisms and implications for drug metabolism and toxicity. Expert Opin Drug Metab Toxicol. 2008 Apr; 4: (4)439-52.
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Eckdahl TT, Brown AD, Hart SN, Malloy KJ, Shott M, Yiu G, Hoopes LL, Heyer LJ. Microarray analysis of the in vivo sequence preferences of a minor groove binding drug. BMC Genomics. 2008 Jan 23; 9:32.
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Hart SN, Durbian FE, Dillman CB, Eckdahl TT. Assessment of Allelic Variation Among Massasauga Rattlesnake Populations Via Microsatellite Analysis. Trans Missouri Acad Sci. 2008; 42:1-9.
Hart SN, Wang S, Nakamoto K, Wesselman C, Li Y, Zhong XB. Genetic polymorphisms in cytochrome P450 oxidoreductase influence microsomal P450-catalyzed drug metabolism. Pharmacogenet Genomics. 2008 Jan; 18: (1)11-24.
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Hart SN, Li Y, Nakamoto K, Wesselman C, Zhong XB. Novel SNPs in cytochrome P450 oxidoreductase. Drug Metab Pharmacokinet. 2007 Aug; 22: (4)322-6.
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Steven N. Hart, Ph.D.

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