Internal Medicine - Human Genetics

Research output

Research output per year 1984 2012 2015 2018 2019 2020 2024

• 94604 Citations
• 158 h-index
• 881 Article
• 104 Review article
• 39 Letter
• 35 Comment/debate
• 36 More
  • 18 Chapter
  • 13 Editorial
  • 4 Short survey
  • 1 Conference contribution

Research output per year

Research output per year

Search results

• 2024

  Assessment of Interprofessional Competence of Leadership Education in Neurodevelopmental and Related Disabilities Trainees through a Virtual Standardized Patient Encounter

  Barnhardt, E. W., Gonzalez, A., Rabidoux, P. & Allain, D. C., Jan 2024, In: Maternal and Child Health Journal. 28, 1, p. 44-51 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Mental Competency 100%
  • trainee 95%
  • disability 71%
  • leadership 66%
  • Education 65%

• Bilateral Oophorectomy and All-Cause Mortality in Women with BRCA1 and BRCA2 Sequence Variations

  Kotsopoulos, J., Gronwald, J., Huzarski, T., Møller, P., Pal, T., McCuaig, J. M., Singer, C. F., Karlan, B. Y., Aeilts, A., Eng, C., Eisen, A., Bordeleau, L., Foulkes, W. D., Tung, N., Couch, F. J., Fruscio, R., Neuhausen, S. L., Zakalik, D., Cybulski, C., Metcalfe, K., & 4 othersOlopade, O. I., Sun, P., Lubinski, J. & Narod, S. A., Apr 18 2024, In: JAMA Oncology. 10, 4, p. 484-492 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Ovariectomy 100%
  • Mortality 45%
  • Ovarian Neoplasms 10%
  • Fallopian Tube Neoplasms 9%
  • Salpingectomy 8%
  1 Scopus citations

• CHEK2 Founder Variants and Thyroid Cancer Risk

  Brock, P., Liynarachchi, S., Nieminen, T. T., Chan, C., Kohlmann, W., Stout, L. A., Yao, S., La Greca, A., Jensen, K. E., Kolesar, J. M., Salhia, B., Gulhati, P., Hicks, J. K. & Ringel, M. D., Apr 1 2024, In: Thyroid. 34, 4, p. 477-483 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Thyroid Neoplasms 100%
  • Genome-Wide Association Study 39%
  • Information Services 27%
  • Atlases 24%
  • Genome 15%

• Clinical and biological landscape of constitutional mismatch-repair deficiency syndrome: an International Replication Repair Deficiency Consortium cohort study

  Ercan, A. B., Aronson, M., Fernandez, N. R., Chang, Y., Levine, A., Liu, Z. A., Negm, L., Edwards, M., Bianchi, V., Stengs, L., Chung, J., Al-Battashi, A., Reschke, A., Lion, A., Ahmad, A., Lassaletta, A., Reddy, A. T., Al-Darraji, A. F., Shah, A. C., Van Damme, A., & 108 othersBendel, A., Rashid, A., Margol, A. S., Kelly, B. L., Pencheva, B., Heald, B., Lemieux-Anglin, B., Crooks, B., Koschmann, C., Gilpin, C., Porter, C. C., Gass, D., Samuel, D., Ziegler, D. S., Blumenthal, D. T., Kuo, D. J., Hamideh, D., Basel, D., Khuong-Quang, D. A., Stearns, D., Opocher, E., Carceller, F., Baris Feldman, H., Toledano, H., Winer, I., Scheers, I., Fedorakova, I., Su, J. M., Vengoechea, J., Sterba, J., Knipstein, J., Hansford, J. R., Gonzales-Santos, J. R., Bhatia, K., Bielamowicz, K. J., Minhas, K., Nichols, K. E., Cole, K. A., Penney, L., Hjort, M. A., Sabel, M., Gil-da-Costa, M. J., Murray, M. J., Miller, M., Blundell, M. L., Massimino, M., Al-Hussaini, M., Al-Jadiry, M. F., Comito, M. A., Osborn, M., Link, M. P., Zapotocky, M., Ghalibafian, M., Shaheen, N., Mushtaq, N., Waespe, N., Hijiya, N., Fuentes-Bolanos, N., Ahmad, O., Chamdine, O., Roy, P., Pichurin, P. N., Nyman, P., Pearlman, R., Auer, R. C., Sukumaran, R. K., Kebudi, R., Dvir, R., Raphael, R., Elhasid, R., McGee, R. B., Chami, R., Noss, R., Tanaka, R., Raskin, S., Sen, S., Lindhorst, S., Perreault, S., Caspi, S., Riaz, S., Constantini, S., Albert, S., Chaleff, S., Bielack, S., Chiaravalli, S., Cramer, S. L., Roy, S., Cahn, S., Penna, S., Hamid, S. A., Ghafoor, T., Imam, U., Larouche, V., Magimairajan Issai, V., Foulkes, W. D., Lee, Y. Y., Nathan, P. C., Maruvka, Y. E., Greer, M. L. C., Durno, C., Shlien, A., Ertl-Wagner, B., Villani, A., Malkin, D., Hawkins, C., Bouffet, E., Das, A. & Tabori, U., May 2024, In: The Lancet Oncology. 25, 5, p. 668-682 15 p.

  Research output: Contribution to journal › Article › peer-review

  • Turcot syndrome 100%
  • Cohort Studies 46%
  • Neoplasms 21%
  • Survival 7%
  • Gastrointestinal Neoplasms 6%

• Does the choice of platinum doublet matter? A study to evaluate the impact of platinum doublet choice for treatment of platinum-sensitive ovarian cancer recurrence on the development of future PARP inhibitor and platinum resistance.

  Levine, M. D., Wang, H., Sriram, B., Khan, A., Senter, L., McLaughlin, E. M., Bixel, K. L., Chambers, L. M., Cohn, D. E., Copeland, L. J., Cosgrove, C. M., Nagel, C. I., O'Malley, D. M. & Backes, F. J., Mar 2024, In: Gynecologic Oncology. 182, p. 51-56 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Poly(ADP-ribose) Polymerase Inhibitors 100%
  • Platinum 79%
  • Ovarian Neoplasms 68%
  • Recurrence 43%
  • Therapeutics 12%

• Impact of weight loss on cancer-related proteins in serum: results from a cluster randomised controlled trial of individuals with type 2 diabetes

  Bull, C. J., Hazelwood, E., Legge, D. N., Corbin, L. J., Richardson, T. G., Lee, M., Yarmolinsky, J., Smith-Byrne, K., Hughes, D. A., Johansson, M., Peters, U., Berndt, S. I., Brenner, H., Burnett-Hartman, A., Cheng, I., Kweon, S. S., Le Marchand, L., Li, L., Newcomb, P. A., Pearlman, R., & 9 othersMcConnachie, A., Welsh, P., Taylor, R., Lean, M. E. J., Sattar, N., Murphy, N., Gunter, M. J., Timpson, N. J. & Vincent, E. E., Feb 2024, In: EBioMedicine. 100, 104977.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Blood Proteins 100%
  • Weight Loss 92%
  • Type 2 Diabetes Mellitus 84%
  • Randomized Controlled Trials 76%
  • Molecular Cluster 73%

• MRI Surveillance and Breast Cancer Mortality in Women with BRCA1 and BRCA2 Sequence Variations

  Lubinski, J., Kotsopoulos, J., Moller, P., Pal, T., Eisen, A., Peck, L., Karlan, B. Y., Aeilts, A., Eng, C., Bordeleau, L., Foulkes, W. D., Tung, N., Couch, F. J., Fruscio, R., Ramon Y Cajal, T., Singer, C. F., Neuhausen, S. L., Zakalik, D., Cybulski, C., Gronwald, J., & 8 othersHuzarski, T., Stempa, K., Dungan, J., Cullinane, C., Olopade, O. I., Metcalfe, K., Sun, P. & Narod, S. A., Apr 18 2024, In: JAMA Oncology. 10, 4, p. 493-499 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Magnetic Resonance Imaging 100%
  • Breast Neoplasms 96%
  • Mortality 76%
  • BRCA2 Gene 16%
  • BRCA1 Gene 15%
  1 Scopus citations

• Pathogenic and likely pathogenic germline variation in patients with myeloid malignancies and their unrelated HLA-matched hematopoietic stem cell donors

  Clay-Gilmour, A., Cooper, J., Wang, J., Zhu, Q., Pooler, L., Sheng, X., Haiman, C., Spellman, S. R., Pasquini, M., McCarthy, P., Brock, P. L., Senter-Jamieson, L., Hahn, T. & Sucheston-Campbell, L., 2024, In: Journal of Translational Genetics and Genomics. 8, 1, p. 35-48 14 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Hematopoietic Stem Cells 100%
  • Tissue Donors 79%
  • Fanconi Anemia 67%
  • Neoplasms 32%
  • Transplants 31%

• PDPR Gene Variants Predisposing to Papillary Thyroid Cancer

  Brock, P., Sevigny, M., Liyanarachchi, S., Comiskey, D. F., Li, W., Saarinen, S., Yilmaz, A. S., Nieminen, A. I., Ringel, M. D., Peltomäki, P., Ollila, S. & Nieminen, T. T., 2024, (Accepted/In press) In: Thyroid.

  Research output: Contribution to journal › Article › peer-review

  • Pyruvate Dehydrogenase (Lipoamide)-Phosphatase 100%
  • Papillary Thyroid Cancer 63%
  • Regulator Genes 56%
  • Thyroid Neoplasms 35%
  • Adenomatous Polyposis Coli 12%

• Perspectives of genetic counseling supervisors regarding genetic counseling students' attainment of practice-based competencies in clinical care through remote supervision

  Shane-Carson, K. P., Stone, L., Justice, K., Mwanda, S., Stagg, A., Pilditch, J., Hiner, S., Schwoerer, J. S., Berry, S. A. & Edick, M. J., Feb 2024, In: Journal of genetic counseling. 33, 1, p. 86-102 17 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Clinical Competence 100%
  • Genetic Counseling 93%
  • Students 59%
  • Counselors 22%
  • Telephone 18%

• Presumed Pathogenic Germ Line and Somatic Variants in African American Thyroid Cancer

  Hurst, Z. A., Liyanarachchi, S., Brock, P., He, H., Nabhan, F., Veloski, C., Toland, A. E., Ringel, M. D. & Jhiang, S. M., Mar 1 2024, In: Thyroid. 34, 3, p. 378-387 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Thyroid Neoplasms 100%
  • Germ Cells 97%
  • African Americans 92%
  • Healthcare Disparities 30%
  • Neoplasm Genes 23%

• Retrospective chart analysis to determine the impact of a patient-facing digital risk stratification tool combined with a clinical screener for hereditary cancer genetic risk assessment triage in a community oncology clinic

  Shane-Carson, K. P., Smith, D., Smith, A. & Seeley, C., Feb 2024, In: Journal of Community Genetics. 15, 1, p. 25-31 7 p.

  Research output: Contribution to journal › Article › peer-review

  • Triage 100%
  • eligible patients 94%
  • risk assessment 87%
  • cancer 82%
  • Risk Assessment 75%

• Risk-management decision-making data from a community-based sample of racially diverse women at high risk of breast cancer: rationale, methods, and sample characteristics of the Daughter Sister Mother Project survey

  Padamsee, T. J., Bijou, C., Swinehart-Hord, P., Hils, M., Muraveva, A., Meadows, R. J., Shane-Carson, K., Yee, L. D., Wills, C. E. & Paskett, E. D., Dec 2024, In: Breast Cancer Research. 26, 1, 8.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Risk Management 100%
  • Nuclear Family 98%
  • Siblings 83%
  • Decision Making 75%
  • Breast Neoplasms 58%

• Risk-reducing mastectomy and breast cancer mortality in women with a BRCA1 or BRCA2 pathogenic variant: an international analysis

  Metcalfe, K., Huzarski, T., Gronwald, J., Kotsopoulos, J., Kim, R., Moller, P., Pal, T., Aeilts, A., Eisen, A., Karlan, B., Bordeleau, L., Tung, N., Olopade, O., Zakalik, D., Singer, C. F., Foulkes, W., Couch, F., Neuhausen, S. L., Eng, C., Sun, P., & 22 othersLubinski, J., Narod, S. A., Velsher, L., Poll, A., Warner, E., McCuaig, J., Armel, S., Saal, H., Steele, L., Lemire, E., Serfas, K., Senter, L., Sweet, K., Panchal, S., Cullinane, C. A., Blum, J. L., Rayson, D., Ramón y Cajal, T., Dungan, J., Fruscio, R., Zovato, S. & Cohen, S., Feb 10 2024, In: British Journal of Cancer. 130, 2, p. 269-274 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Mastectomy 100%
  • Breast Neoplasms 57%
  • Mortality 45%
  • Safety Management 10%
  • Confidence Intervals 9%
  1 Scopus citations

• The DCM Project Portal: A direct-to-participant platform of The DCM Research Project

  Jordan, E. S., Grover, P. L., Lin, J., Starkey, C. A., Finley, E. A., Ni, H. & Hershberger, R. E., Feb 2024, In: American Heart Journal Plus: Cardiology Research and Practice. 38, 100356.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Dilated Cardiomyopathy 100%
  • Genetic Research 58%
  • Hispanic Americans 44%
  • Operations Research 36%
  • Internet Access 32%
• 2023

  2023 ACC Expert Consensus Decision Pathway on Comprehensive Multidisciplinary Care for the Patient With Cardiac Amyloidosis: A Report of the American College of Cardiology Solution Set Oversight Committee

  WRITING COMMITTEE, Mar 21 2023, In: Journal of the American College of Cardiology. 81, 11, p. 1076-1126 51 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access
  94 Scopus citations

• ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

  ACMG Secondary Findings Working Group, Aug 2023, In: Genetics in Medicine. 25, 8, 100866.

  Research output: Contribution to journal › Article › peer-review
  37 Scopus citations

• A human mitofusin 2 mutation can cause mitophagic cardiomyopathy

  Franco, A., Li, J., Kelly, D. P., Hershberger, R. E., Marian, A. J., Lewis, R. M., Song, M., Dang, X., Schmidt, A. D., Mathyer, M. E., Edwards, J. R., Strong, C. D. G. & Dorn, G. W., 2023, In: eLife. 12, e84235.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Cardiomyopathies 100%
  • Mitophagy 93%
  • Mutation 86%
  • RNA Sequencing 56%
  • Mitochondrial Dynamics 43%
  2 Scopus citations

• Assessing the general public’s view of direct-to-consumer (DTC) genetic testing and their interpretation of DTC website disclaimer messages

  Ruehl, M., Hovick, S., Philp, A. & Sweet, K., Aug 2023, In: European Journal of Human Genetics. 31, 8, p. 939-944 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Direct-To-Consumer Screening and Testing 100%
  • Genetic Testing 59%
  • Motivation 7%
  • Statistics 7%
  1 Scopus citations

• Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

  Josephs, K. S., Roberts, A. M., Theotokis, P., Walsh, R., Ostrowski, P. J., Edwards, M., Fleming, A., Thaxton, C., Roberts, J. D., Care, M., Zareba, W., Adler, A., Sturm, A. C., Tadros, R., Novelli, V., Owens, E., Bronicki, L., Jarinova, O., Callewaert, B., Peters, S., & 15 othersLumbers, T., Jordan, E., Asatryan, B., Krishnan, N., Hershberger, R. E., Chahal, C. A. A., Landstrom, A. P., James, C., McNally, E. M., Judge, D. P., van Tintelen, P., Wilde, A., Gollob, M., Ingles, J. & Ware, J. S., Dec 2023, In: Genome medicine. 15, 1, 86.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Genes 100%
  • Datasets 65%
  • Inheritance Patterns 53%
  • Proteins 15%
  3 Scopus citations

• BRCAShare—Assessment of an animated digital message for intrafamilial communication of pathogenic variant positive test results: A feasibility study

  Aeilts, A. M., Carpenter, K. M., Hovick, S. R., Byrne, L., Shoben, A. B. & Senter, L., Apr 2023, In: Journal of genetic counseling. 32, 2, p. 475-485 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Feasibility Studies 100%
  • Genetic Testing 99%
  • Hereditary Breast and Ovarian Cancer Syndrome 93%
  • Communication 72%
  • Intention 38%

• Clinical testing panels for ALS: global distribution, consistency, and challenges

  On behalf of the Amyotrophic lateral sclerosis spectrum disorders Gene Curation Expert Panel, 2023, In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 24, 5-6, p. 420-435 16 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Amyotrophic Lateral Sclerosis 100%
  • Genes 37%
  • Genetic Testing 32%
  • Missed Diagnosis 13%
  • National Institutes of Health (U.S.) 10%
  3 Scopus citations

• Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations

  Thomas, M., Su, Y. R., Rosenthal, E. A., Sakoda, L. C., Schmit, S. L., Timofeeva, M. N., Chen, Z., Fernandez-Rozadilla, C., Law, P. J., Murphy, N., Carreras-Torres, R., Diez-Obrero, V., van Duijnhoven, F. J. B., Jiang, S., Shin, A., Wolk, A., Phipps, A. I., Burnett-Hartman, A., Gsur, A., Chan, A. T., & 109 othersZauber, A. G., Wu, A. H., Lindblom, A., Um, C. Y., Tangen, C. M., Gignoux, C., Newton, C., Haiman, C. A., Qu, C., Bishop, D. T., Buchanan, D. D., Crosslin, D. R., Conti, D. V., Kim, D. H., Hauser, E., White, E., Siegel, E., Schumacher, F. R., Rennert, G., Giles, G. G., Hampel, H., Brenner, H., Oze, I., Oh, J. H., Lee, J. K., Schneider, J. L., Chang-Claude, J., Kim, J., Huyghe, J. R., Zheng, J., Hampe, J., Greenson, J., Hopper, J. L., Palmer, J. R., Visvanathan, K., Matsuo, K., Matsuda, K., Jung, K. J., Li, L., Le Marchand, L., Vodickova, L., Bujanda, L., Gunter, M. J., Matejcic, M., Jenkins, M. A., Slattery, M. L., D’Amato, M., Wang, M., Hoffmeister, M., Woods, M. O., Kim, M., Song, M., Iwasaki, M., Du, M., Udaltsova, N., Sawada, N., Vodicka, P., Campbell, P. T., Newcomb, P. A., Cai, Q., Pearlman, R., Pai, R. K., Schoen, R. E., Steinfelder, R. S., Haile, R. W., Vandenputtelaar, R., Prentice, R. L., Küry, S., Castellví-Bel, S., Tsugane, S., Berndt, S. I., Lee, S. C., Brezina, S., Weinstein, S. J., Chanock, S. J., Jee, S. H., Kweon, S. S., Vadaparampil, S., Harrison, T. A., Yamaji, T., Keku, T. O., Vymetalkova, V., Arndt, V., Jia, W. H., Shu, X. O., Lin, Y., Ahn, Y. O., Stadler, Z. K., Van Guelpen, B., Ulrich, C. M., Platz, E. A., Potter, J. D., Li, C. I., Meester, R., Moreno, V., Figueiredo, J. C., Casey, G., Lansdorp Vogelaar, I., Dunlop, M. G., Gruber, S. B., Hayes, R. B., Pharoah, P. D. P., Houlston, R. S., Jarvik, G. P., Tomlinson, I. P., Zheng, W., Corley, D. A., Peters, U. & Hsu, L., Dec 2023, In: Nature Communications. 14, 1, 6147.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • genome 100%
  • Genome-Wide Association Study 80%
  • cancer 71%
  • Black 67%
  • Colorectal Neoplasms 61%

• Constitutional MLH1 Methylation Is a Major Contributor to Mismatch Repair–Deficient, MLH1-Methylated Colorectal Cancer in Patients Aged 55 Years and Younger

  Hitchins, M. P., Dámaso, E., Alvarez, R., Zhou, L., Hu, Y., Diniz, M. A., Pineda, M., Capella, G., Pearlman, R. & Hampel, H., Jul 2023, In: JNCCN Journal of the National Comprehensive Cancer Network. 21, 7, p. 743-752E11

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Methylation 100%
  • Colorectal Neoplasms 87%
  • Hereditary Nonpolyposis Colorectal Neoplasms 43%
  • Neoplasms 17%
  • hydrogen sulfite 14%
  2 Scopus citations

• Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries

  Fernandez-Rozadilla, C., Timofeeva, M., Chen, Z., Law, P., Thomas, M., Schmit, S., Díez-Obrero, V., Hsu, L., Fernandez-Tajes, J., Palles, C., Sherwood, K., Briggs, S., Svinti, V., Donnelly, K., Farrington, S., Blackmur, J., Vaughan-Shaw, P., Shu, X. O., Long, J., Cai, Q., & 190 othersGuo, X., Lu, Y., Broderick, P., Studd, J., Huyghe, J., Harrison, T., Conti, D., Dampier, C., Devall, M., Schumacher, F., Melas, M., Rennert, G., Obón-Santacana, M., Martín-Sánchez, V., Moratalla-Navarro, F., Oh, J. H., Kim, J., Jee, S. H., Jung, K. J., Kweon, S. S., Shin, M. H., Shin, A., Ahn, Y. O., Kim, D. H., Oze, I., Wen, W., Matsuo, K., Matsuda, K., Tanikawa, C., Ren, Z., Gao, Y. T., Jia, W. H., Hopper, J., Jenkins, M., Win, A. K., Pai, R., Figueiredo, J., Haile, R., Gallinger, S., Woods, M., Newcomb, P., Duggan, D., Cheadle, J., Kaplan, R., Maughan, T., Kerr, R., Kerr, D., Kirac, I., Böhm, J., Mecklin, L. P., Jousilahti, P., Knekt, P., Aaltonen, L., Rissanen, H., Pukkala, E., Eriksson, J., Cajuso, T., Hänninen, U., Kondelin, J., Palin, K., Tanskanen, T., Renkonen-Sinisalo, L., Zanke, B., Männistö, S., Albanes, D., Weinstein, S., Ruiz-Narvaez, E., Palmer, J., Buchanan, D., Platz, E., Visvanathan, K., Ulrich, C., Siegel, E., Brezina, S., Gsur, A., Campbell, P., Chang-Claude, J., Hoffmeister, M., Brenner, H., Slattery, M., Potter, J., Tsilidis, K., Schulze, M., Gunter, M., Murphy, N., Castells, A., Castellví-Bel, S., Moreira, L., Arndt, V., Shcherbina, A., Stern, M., Pardamean, B., Bishop, T., Giles, G., Southey, M., Idos, G., McDonnell, K., Abu-Ful, Z., Greenson, J., Shulman, K., Lejbkowicz, F., Offit, K., Su, Y. R., Steinfelder, R., Keku, T., van Guelpen, B., Hudson, T., Hampel, H., Pearlman, R., Berndt, S., Hayes, R., Martinez, M. E., Thomas, S., Corley, D., Pharoah, P., Larsson, S., Yen, Y., Lenz, H. J., White, E., Li, L., Doheny, K., Pugh, E., Shelford, T., Chan, A., Cruz-Correa, M., Lindblom, A., Hunter, D., Joshi, A., Schafmayer, C., Scacheri, P., Kundaje, A., Nickerson, D., Schoen, R., Hampe, J., Stadler, Z., Vodicka, P., Vodickova, L., Vymetalkova, V., Papadopoulos, N., Edlund, C., Gauderman, W., Thomas, D., Shibata, D., Toland, A., Markowitz, S., Kim, A., Chanock, S., van Duijnhoven, F., Feskens, E., Sakoda, L., Gago-Dominguez, M., Wolk, A., Naccarati, A., Pardini, B., FitzGerald, L., Lee, S. C., Ogino, S., Bien, S., Kooperberg, C., Li, C., Lin, Y., Prentice, R., Qu, C., Bézieau, S., Tangen, C., Mardis, E., Yamaji, T., Sawada, N., Iwasaki, M., Haiman, C., Le Marchand, L., Wu, A., Qu, C., McNeil, C., Coetzee, G., Hayward, C., Deary, I., Harris, S., Theodoratou, E., Reid, S., Walker, M., Ooi, L. Y., Moreno, V., Casey, G., Gruber, S., Tomlinson, I., Zheng, W., Dunlop, M., Houlston, R. & Peters, U., Jan 2023, In: Nature Genetics. 55, 1, p. 89-99 11 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Colorectal Neoplasms 100%
  • Mucous Membrane 33%
  • Microbial Interactions 32%
  • Epigenome 26%
  • Chemoprevention 23%
  34 Scopus citations

• Development of a web-based, theory-guided narrative intervention for women at elevated risk for breast cancer

  Katz, M. L., Senter, L., Reiter, P. L., Emerson, B., Ennis, A. C., Shane-Carson, K. P., Aeilts, A., Cassingham, H. R., Schnell, P. M., Agnese, D. M., Toland, A. E. & Sweet, K., Jan 2023, In: Patient Education and Counseling. 106, p. 163-169 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Genetic Counseling 100%
  • Breast Neoplasms 58%
  • Counseling 38%
  • Genetic Testing 31%
  • Workforce 29%
  2 Scopus citations

• Effectiveness of the Family Heart Talk Communication Tool in Improving Family Member Screening for Dilated Cardiomyopathy: Results of a Randomized Trial

  Kinnamon, D. D., Jordan, E., Haas, G. J., Hofmeyer, M., Kransdorf, E., Ewald, G. A., Morris, A. A., Owens, A., Lowes, B., Stoller, D., Tang, W. H. W., Garg, S., Trachtenberg, B. H., Shah, P., Pamboukian, S. V., Sweitzer, N. K., Wheeler, M. T., Wilcox, J. E., Katz, S., Pan, S., & 13 othersJimenez, J., Aaronson, K. D., Fishbein, D. P., Smart, F., Wang, J., Gottlieb, S. S., Judge, D. P., Moore, C. K., Mead, J. O., Huggins, G. S., Ni, H., Burke, W. & Hershberger, R. E., Apr 25 2023, In: Circulation. 147, 17, p. 1281-1290 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Dilated Cardiomyopathy 100%
  • Communication 68%
  • Heart 59%
  • Pamphlets 26%
  • Precision Medicine 11%
  4 Scopus citations

• Efficacy and Safety of ARRY-371797 in LMNA-Related Dilated Cardiomyopathy: A Phase 2 Study

  Macrae, C. A., Taylor, M. R. G., Mestroni, L., Moses, J., Ashley, E. A., Wheeler, M. T., Lakdawala, N. K., Hershberger, R. E., Sandor, V., Saunders, M. E., Oliver, C., Lee, P. A. & Judge, D. P., Feb 1 2023, In: Circulation: Genomic and Precision Medicine. 16, 1, p. E003730

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • ARRY-371797 100%
  • Lamin Type A 56%
  • Walk Test 48%
  • Dilated Cardiomyopathy 43%
  • Brain Natriuretic Peptide 33%
  3 Scopus citations

• Evidence-based consensus guidelines for ALS genetic testing and counseling

  Roggenbuck, J., Eubank, B. H. F., Wright, J., Harms, M. B. & Kolb, S. J., Nov 2023, In: Annals of Clinical and Translational Neurology. 10, 11, p. 2074-2091 18 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Genetic Counseling 100%
  • Amyotrophic Lateral Sclerosis 98%
  • Genetic Testing 94%
  • Consensus 87%
  • Guidelines 58%
  4 Scopus citations

• Functional and Clinical Characterization of Variants of Uncertain Significance Identifies a Hotspot for Inactivating Missense Variants in RAD51C

  Hu, C., Nagaraj, A. B., Shimelis, H., Montalban, G., Lee, K. Y., Huang, H., Lumby, C. A., Na, J., Susswein, L. R., Roberts, M. E., Marshall, M. L., Hiraki, S., LaDuca, H., Chao, E., Yussuf, A., Pesaran, T., Neuhausen, S. L., Haiman, C. A., Kraft, P., Lindstrom, S., & 24 othersPalmer, J. R., Teras, L. R., Vachon, C. M., Yao, S., Ong, I., Nathanson, K. L., Weitzel, J. N., Boddicker, N., Gnanaolivu, R., Polley, E. C., Mer, G., Cui, G., Karam, R., Richardson, M. E., Domchek, S. M., Yadav, S., Hruska, K. S., Dolinsky, J., Weroha, S. J., Hart, S. N., Simard, J., Masson, J. Y., Pang, Y. P. & Couch, F. J., Aug 1 2023, In: Cancer Research. 83, 15, p. 2557-2571 15 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Ovarian Neoplasms 100%
  • Breast Neoplasms 70%
  • olaparib 56%
  • Confidence Intervals 43%
  • DNA Repair 33%
  1 Scopus citations

• Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2024 Featured Updates to the NCCN Guidelines

  Daly, M. B., Pal, T., Maxwell, K. N., Churpek, J., Kohlmann, W., AlHilli, Z., Arun, B., Buys, S. S., Cheng, H., Domchek, S. M., Friedman, S., Giri, V., Goggins, M., Hagemann, A., Hendrix, A., Hutton, M. L., Karlan, B. Y., Kassem, N., Khan, S., Khoury, K., & 20 othersKurian, A. W., Laronga, C., Mak, J. S., Mansour, J., McDonnell, K., Menendez, C. S., Merajver, S. D., Norquist, B. S., Offit, K., Rash, D., Reiser, G., Senter-Jamieson, L., Shannon, K. M., Visvanathan, K., Welborn, J., Wick, M. J., Wood, M., Yurgelun, M. B., Dwyer, M. A. & Darlow, S. D., Oct 2023, In: JNCCN Journal of the National Comprehensive Cancer Network. 21, 10, p. 1001-1010 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Risk Assessment 100%
  • Prostatic Neoplasms 95%
  • Breast 91%
  • Guidelines 77%
  • Breast Neoplasms 76%
  14 Scopus citations

• Genetic Architecture of Dilated Cardiomyopathy in Individuals of African and European Ancestry

  Jordan, E., Kinnamon, D. D., Haas, G. J., Hofmeyer, M., Kransdorf, E., Ewald, G. A., Morris, A. A., Owens, A., Lowes, B., Stoller, D., Tang, W. H. W., Garg, S., Trachtenberg, B. H., Shah, P., Pamboukian, S. V., Sweitzer, N. K., Wheeler, M. T., Wilcox, J. E., Katz, S., Pan, S., & 18 othersJimenez, J., Fishbein, D. P., Smart, F., Wang, J., Gottlieb, S. S., Judge, D. P., Moore, C. K., Mead, J. O., Hurst, N., Cao, J., Huggins, G. S., Cowan, J., Ni, H., Rehm, H. L., Jarvik, G. P., Vatta, M., Burke, W. & Hershberger, R. E., Aug 1 2023, In: JAMA. 330, 5, p. 432-441 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Dilated Cardiomyopathy 100%
  • European Continental Ancestry Group 14%
  • Genes 12%
  • North American Indians 9%
  • African Continental Ancestry Group 7%
  3 Scopus citations

• Genetic counseling and testing for females at elevated risk for breast cancer: Protocol for the randomized controlled trial of the Know Your Risk intervention

  Sweet, K., Reiter, P. L., Schnell, P. M., Senter, L., Shane-Carson, K. P., Aeilts, A., Cooper, J., Spears, C., Brown, J., Toland, A. E., Agnese, D. M. & Katz, M. L., Oct 2023, In: Contemporary Clinical Trials. 133, 107323.

  Research output: Contribution to journal › Article › peer-review

  • Genetic Counseling 100%
  • Genetic Testing 94%
  • Randomized Controlled Trials 61%
  • Breast Neoplasms 58%
  • Workforce 19%

• Germline EGFR Mutations and Familial Lung Cancer

  Oxnard, G. R., Chen, R., Pharr, J. C., Koeller, D. R., Bertram, A. A., Dahlberg, S. E., Rainville, I., Shane-Carson, K., Taylor, K. A., Sable-Hunt, A., Sholl, L. M., Teerlink, C. C., Thomas, A., Cannon-Albright, L. A., Fay, A. P., Ashton-Prolla, P., Yang, H., Salvatore, M. M., Addario, B. J., Jänne, P. A., & 3 othersCarbone, D. P., Wiesner, G. L. & Garber, J. E., Dec 1 2023, In: Journal of Clinical Oncology. 41, 34, p. 5274-5284 11 p.

  Research output: Contribution to journal › Article › peer-review

  • Germ-Line Mutation 100%
  • Lung Neoplasms 70%
  • Adenocarcinoma of Lung 31%
  • Tomography 20%
  • Inheritance Patterns 18%
  4 Scopus citations

• Hereditary/Familial Ovarian Cancer: Testing Principles and Risk Management

  Senter, L., May 2023, In: JNCCN Journal of the National Comprehensive Cancer Network. 21, 55, p. 1-3 3 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Salpingectomy 100%
  • Recombinational DNA Repair 91%
  • Salpingo-oophorectomy 90%
  • Risk Management 77%
  • Standard of Care 68%

• Knowledge of Genome Sequencing and Trust in Medical Researchers among Patients of Different Racial and Ethnic Groups with Idiopathic Dilated Cardiomyopathy

  Ni, H., Jordan, E., Cao, J., Kinnamon, D. D., Gottlieb, S. S., Hofmeyer, M., Jimenez, J., Judge, D. P., Kransdorf, E., Morris, A. A., Owens, A., Shah, P., Tang, W. H. W., Wang, J. & Hershberger, R. E., Jan 11 2023, In: JAMA Cardiology. 8, 1, p. 33-42 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Dilated Cardiomyopathy 100%
  • Research Personnel 63%
  • Genome 62%
  • Hispanic Americans 44%
  • European Continental Ancestry Group 31%
  3 Scopus citations

• Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake

  Ramsey, M. L., Tomlinson, J., Pearlman, R., Abushahin, L., Aeilts, A., Chen, H. Z., Chen, Y., Compton, A., Elkhatib, R., Geiger, L., Hays, J., Jeter, J., Jin, N., Malalur, P., Roychowdhury, S., Ruple, J., Prebish, J., Stanich, P. P. & Hampel, H., Jan 2023, In: Familial Cancer. 22, 1, p. 91-97 7 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Genetic Testing 100%
  • Pancreatic Neoplasms 91%
  • Genetic Counseling 44%
  • Counselors 18%
  • Recessive Genes 11%
  5 Scopus citations

• Mismatch repair protein status of non-neoplastic uterine and intestinal mucosa in patients with Lynch syndrome and double somatic mismatch repair protein mutations

  Freitag, C. E., Chen, W., Pearlman, R., Hampel, H., Stanich, P. P., Cosgrove, C. M., Konnick, E. Q., Pritchard, C. C. & Frankel, W. L., Jul 2023, In: Human Pathology. 137, p. 1-9 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Hereditary Nonpolyposis Colorectal Neoplasms 100%
  • DNA Mismatch Repair 90%
  • Intestinal Mucosa 80%
  • Mutation 42%
  • Proteins 27%
  1 Scopus citations

• MLH1-methylated endometrial cancer under 60 years of age as the “sentinel” cancer in female carriers of high-risk constitutional MLH1 epimutation

  Hitchins, M. P., Alvarez, R., Zhou, L., Aguirre, F., Dámaso, E., Pineda, M., Capella, G., Wong, J. J. L., Yuan, X., Ryan, S. R., Sathe, D. S., Baxter, M. D., Cannon, T., Biswas, R., DeMarco, T., Grzelak, D., Hampel, H. & Pearlman, R., Apr 2023, In: Gynecologic Oncology. 171, p. 129-140 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Endometrial Neoplasms 100%
  • Methylation 88%
  • Turcot syndrome 39%
  • Neoplasms 31%
  • Colorectal Neoplasms 14%
  3 Scopus citations

• Neuromuscular and cardiovascular phenotypes in paediatric titinopathies: A multisite retrospective study

  Meyer, A. P., Barnett, C. L., Myers, K., Siskind, C. E., Moscarello, T., Logan, R., Roggenbuck, J. & Rich, K. A., 2023, (Accepted/In press) In: Journal of Medical Genetics. jmg-2023-109513.

  Research output: Contribution to journal › Article › peer-review

  • Retrospective Studies 100%
  • Pediatrics 95%
  • Phenotype 89%
  • Skeletal Muscle 39%
  • Restrictive Cardiomyopathy 37%

• Optimising clinical care through CDH1 -specific germline variant curation: Improvement of clinical assertions and updated curation guidelines

  Luo, X., Maciaszek, J. L., Thompson, B. A., Leong, H. S., Dixon, K., Sousa, S., Anderson, M., Roberts, M. E., Lee, K., Spurdle, A. B., Mensenkamp, A. R., Brannan, T., Pardo, C., Zhang, L., Pesaran, T., Wei, S., Fasaye, G. A., Kesserwan, C., Shirts, B. H., Davis, J. L., & 4 othersOliveira, C., Plon, S. E., Schrader, K. A. & Karam, R., Jun 1 2023, In: Journal of Medical Genetics. 60, 6, p. 568-575 8 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Genome 100%
  • Guidelines 94%
  • Breast Neoplasms 93%
  • Initiator Codon 90%
  • Genetic Testing 76%
  4 Scopus citations

• Outcomes of the "BRCA Quality Improvement Dissemination Program": An initiative to improve patient receipt of cancer genetics services at five health systems

  Bednar, E. M., Chen, M., Walsh, M. T., Eppolito, A. L., Klein, M. H., Teed, K., Hodge, B., Hunter, J., Chao, H. G., Davis, D., Serchion, W., Yobbi, C., Krukenberg, R., Jenkinson, S. B., Moore, J. J., Garcia, C., Gonzalez, F., Murray, T., Nielsen, L. D., Ho, B., & 36 othersHaas, M., Greenzweig, S. B., Anderson, A., Johnson, C., Morman, N. A., Bowdish, E., Wise, E., Cooper, J. N., Russ, P. K., Tondo-Steele, K., de Gracia, B. F., Levin, B., Mattie, K., Zarnawski, K., Kalasinski, M., Stone, J., O'Brien, C., Bream, A., Kennedy, A. M., Paul, R. A., Bilbao, M., Romero, M., Carr, R. L., Siettmann, J. M., Vercruyssen, A. K., Leon, K., Arun, B. K., Grainger, A. V., Warshal, D. P., Bowman, E., Goedde, T. A., Halaharvi, D., Rath, K., Grana, G., Mina, L. & Lu, K. H., May 2023, In: Gynecologic Oncology. 172, p. 106-114 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Genetic Services 100%
  • Genetic Counseling 75%
  • Quality Improvement 67%
  • Genetic Testing 59%
  • Referral and Consultation 50%
  1 Scopus citations

• Patient Understanding of Tumor Genomic Testing: A Quality Improvement Effort

  Senter, L., Veney, D., Surplus, T., Haynam, M., Adams, E. J., Hampel, H., Toland, A. E., Presley, C. J., Padamsee, T. J., Lee, C. N., Hovick, S. R. & Stover, D. G., Jan 1 2023, In: JCO Oncology Practice. 19, 1, p. E8-E14

  Research output: Contribution to journal › Article › peer-review

  • Quality Improvement 100%
  • act 67%
  • cancer 37%
  • Patient Education 35%
  • Neoplasms 32%

• Rare Variant Genetics and Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study

  Hofmeyer, M., Haas, G. J., Jordan, E., Cao, J., Kransdorf, E., Ewald, G. A., Morris, A. A., Owens, A., Lowes, B., Stoller, D., Wilson Tang, W. H., Garg, S., Trachtenberg, B. H., Shah, P., Pamboukian, S. V., Sweitzer, N. K., Wheeler, M. T., Wilcox, J. E., Katz, S., Pan, S., & 10 othersJimenez, J., Smart, F., Wang, J., Gottlieb, S. S., Judge, D. P., Moore, C. K., Huggins, G. S., Kinnamon, D. D., Ni, H. & Hershberger, R. E., Sep 12 2023, In: Circulation. 148, 11, p. 872-881 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Dilated Cardiomyopathy 100%
  • Precision Medicine 98%
  • Heart-Assist Devices 65%
  • Implantable Defibrillators 56%
  • Heart 35%
  3 Scopus citations

• Recurrence rate in early-stage epithelial ovarian cancer: Is there a role for upfront maintenance with PARP inhibitors in stages I and II?

  Levine, M. D., O'Malley, D. M., Haight, P. J., Senter, L., Wagner, V., Bixel, K. L., Cohn, D. E., Copeland, L. J., Cosgrove, C. M., McLaughlin, E. M. & Backes, F. J., Apr 2023, In: Gynecologic Oncology Reports. 46, 101173.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Poly(ADP-ribose) Polymerase Inhibitors 100%
  • Ovarian Epithelial Carcinoma 87%
  • Homologous Recombination 85%
  • Maintenance 53%
  • Recurrence 43%

• Screening for Dilated Cardiomyopathy in At-Risk First-Degree Relatives

  DCM Precision Medicine Study of the DCM Consortium, May 30 2023, In: Journal of the American College of Cardiology. 81, 21, p. 2059-2071 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Dilated Cardiomyopathy 100%
  • Left Ventricular Dysfunction 22%
  • Hispanic Americans 13%
  • Familial dilated cardiomyopathy 11%
  • Electrocardiography 5%
  5 Scopus citations

• Tamoxifen and the risk of breast cancer in women with a BRCA1 or BRCA2 mutation

  and the Hereditary Breast Cancer Clinical Study Group, Sep 2023, In: Breast Cancer Research and Treatment. 201, 2, p. 257-264 8 p.

  Research output: Contribution to journal › Article › peer-review

  • Tamoxifen 100%
  • Raloxifene Hydrochloride 85%
  • Breast Neoplasms 60%
  • Mutation 52%
  • Chemoprevention 34%
  6 Scopus citations

• Two unique BAP1 pathogenic variants identified in the same family by panel cascade testing

  Byrne, L., Ingalls, C., Ansari, A., Porteus, C., Donenberg, T. R., Sussman, D. A., Cebulla, C. M. & Abdel-Rahman, M. H., Jul 2023, In: Familial Cancer. 22, 3, p. 307-311 5 p.

  Research output: Contribution to journal › Article › peer-review

  • Uveal melanoma 100%
  • Neoplasms 85%
  • Genetic Testing 77%
  • Renal Cell Carcinoma 72%
  • Pancreatic Neoplasms 71%

• Universal tumor screening for lynch syndrome on colorectal cancer biopsies impacts surgical treatment decisions

  Vazzano, J., Tomlinson, J., Stanich, P. P., Pearlman, R., Kalady, M. F., Chen, W., Hampel, H. & Frankel, W. L., Jan 2023, In: Familial Cancer. 22, 1, p. 71-76 6 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Hereditary Nonpolyposis Colorectal Neoplasms 100%
  • DNA Mismatch Repair 67%
  • Colorectal Neoplasms 60%
  • Biopsy 46%
  • Genetic Counseling 41%
• 2022

  Accurate assignment of disease liability to genetic variants using only population data

  Collaco, J. M., Raraigh, K. S., Betz, J., Aksit, M. A., Blau, N., Brown, J., Dietz, H. C., MacCarrick, G., Nogee, L. M., Sheridan, M. B., Vernon, H. J., Beaty, T. H., Louis, T. A. & Cutting, G. R., Jan 2022, In: Genetics in Medicine. 24, 1, p. 87-99 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Bayes Theorem 100%
  • Population 80%
  • Virulence 71%
  • ROC Curve 69%
  • DNA 45%
  4 Scopus citations