Internal Medicine - Human Genetics

Research output

Research output per year 1984 2012 2015 2018 2019 2020 2024

• 94620 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

• 2023

  Plain Language Summary of Publication of the safety and efficacy of ARRY-371797 in people with dilated cardiomyopathy and a faulty LMNA gene

  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: Future Cardiology. 19, 2, p. 55-63 9 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • ARRY-371797 100%
  • Dilated Cardiomyopathy 43%
  • Publications 33%
  • Language 31%
  • Safety 23%
  1 Scopus citations
• 2022

  Communal Coping as a Strategy to Enhance Family Engagement in Dilated Cardiomyopathy

  Burke, W., Hovick, S. R., Jordan, E., Ni, H., Kinnamon, D. D. & Hershberger, R. E., Jun 1 2022, In: Circulation: Genomic and Precision Medicine. 15, 3, p. E003541

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Dilated Cardiomyopathy 100%
  • Counseling 26%
  • Precision Medicine 8%

• Hereditary Colorectal Cancer

  Hampel, H., Kalady, M. F., Pearlman, R. & Stanich, P. P., Jun 2022, In: Hematology/Oncology Clinics of North America. 36, 3, p. 429-447 19 p.

  Research output: Contribution to journal › Review article › peer-review
  15 Scopus citations

• Improving the quality of care for patients with advanced epithelial ovarian cancer: Program components, implementation barriers, and recommendations

  Temkin, S. M., Smeltzer, M. P., Dawkins, M. D., Boehmer, L. M., Senter, L., Black, D. R., Blank, S. V., Yemelyanova, A., Magliocco, A. M., Finkel, M. A., Moore, T. E. & Thaker, P. H., Feb 15 2022, In: Cancer. 128, 4, p. 654-664 11 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Ovarian Epithelial Carcinoma 100%
  • Ovarian Neoplasms 78%
  • Quality of Health Care 75%
  • Patient Education 29%
  • Patient Care 22%
  9 Scopus citations
• 2021

  2021 ACC/AHA Key Data Elements and Definitions for Heart Failure: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Data Standards (Writing Committee to Develop Clinical Data Standards for Heart Failure)

  Bozkurt, B., Hershberger, R. E., Butler, J., Grady, K. L., Heidenreich, P. A., Isler, M. L., Kirklin, J. K. & Weintraub, W. S., Apr 1 2021, In: Circulation: Cardiovascular Quality and Outcomes. 14, 4, p. E000102

  Research output: Contribution to journal › Review article › peer-review

  Open Access
  63 Scopus citations

• C9orf72 and the Care of the Patient With ALS or FTD: Progress and Recommendations After 10 Years

  Roggenbuck, J., Feb 21 2021, In: Neurology: Genetics. 7, 1, e542.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Frontotemporal Dementia With Motor Neuron Disease 100%
  • Counseling 55%
  • Patient Care 50%
  • Amyotrophic Lateral Sclerosis 34%
  • Genetic Testing 33%
  10 Scopus citations

• Characteristics of Early-Onset vs Late-Onset Colorectal Cancer: A Review

  Zaborowski, A. M., Abdile, A., Adamina, M., Aigner, F., D'Allens, L., Allmer, C., Álvarez, A., Anula, R., Andric, M., Atallah, S., Bach, S., Bala, M., Barussaud, M., Bausys, A., Bebington, B., Beggs, A., Bellolio, F., Bennett, M. R., Berdinskikh, A., Bevan, V., & 201 othersBiondo, S., Bislenghi, G., Bludau, M., Boutall, A., Brouwer, N., Brown, C., Bruns, C., Buchanan, D. D., Buchwald, P., Burger, J. W. A., Burlov, N., Campanelli, M., Capdepont, M., Carvello, M., Chew, H. H., Christoforidis, D., Clark, D., Climent, M., Cologne, K. G., Contreras, T., Croner, R., Daniels, I. R., Dapri, G., Davies, J., Delrio, P., Denost, Q., Deutsch, M., Dias, A., D'Hoore, A., Drozdov, E., Duek, D., Dunlop, M., Dziki, A., Edmundson, A., Efetov, S., El-Hussuna, A., Elliot, B., Emile, S., Espin, E., Evans, M., Faes, S., Faiz, O., Fleming, F., Foppa, C., Fowler, G., Frasson, M., Figueiredo, N., Forgan, T., Frizelle, F., Gadaev, S., Gellona, J., Glyn, T., Gong, J., Goran, B., Greenwood, E., Guren, M. G., Guillon, S., Gutlic, I., Hahnloser, D., Hampel, H., Hanly, A., Hasegawa, H., Iversen, L. H., Hill, A., Hill, J., Hoch, J., Hoffmeister, M., Hompes, R., Hurtado, L., Iaquinandi, F., Imbrasaite, U., Islam, R., Jafari, M. D., Kanemitsu, Y., Karachun, A., Karimuddin, A. A., Keller, D. S., Kelly, J., Kennelly, R., Khrykov, G., Kocian, P., Koh, C., Kok, N., Knight, K. A., Knol, J., Kontovounisios, C., Korner, H., Krivokapic, Z., Kronberger, I., Kroon, H. M., Kryzauskas, M., Kural, S., Kusters, M., Lakkis, Z., Lankov, T., Larson, D., Lázár, G., Lee, K. Y., Lee, S. H., Lefèvre, J. H., Lepisto, A., Lieu, C., Loi, L., Lynch, C., Maillou-Martinaud, H., Maroli, A., Martin, S., Martling, A., Matzel, K. E., Mayol, J., McDermott, F., Meurette, G., Millan, M., Mitteregger, M., Moiseenko, A., Monson, J. R. T., Morarasu, S., Moritani, K., Möslein, G., Munini, M., Nahas, C., Nahas, S., Negoi, I., Novikova, A., Ocares, M., Okabayashi, K., Olkina, A., Oñate-Ocaña, L., Otero, J., Ozen, C., Pace, U., São Julião, G. P., Panaiotti, L., Panis, Y., Papamichael, D., Park, J., Patel, S., Patrón Uriburu, J. C., Pera, M., Perez, R. O., Petrov, A., Pfeffer, F., Phang, P. T., Poskus, T., Pringle, H., Proud, D., Raguz, I., Rama, N., Rasheed, S., Raval, M. J., Rega, D., Reissfelder, C., Reyes Meneses, J. C., Ris, F., Riss, S., Rodriguez-Zentner, H., Roxburgh, C. S., Saklani, A., Salido, A. J., Sammour, T., Saraste, D., Schneider, M., Seishima, R., Sekulic, A., Seppala, T., Sheahan, K., Shine, R., Shlomina, A., Sica, G. S., Singnomklao, T., Siragusa, L., Smart, N., Solis, A., Spinelli, A., Staiger, R. D., Stamos, M. J., Steele, S., Sunderland, M., Tan, K. K., Tanis, P. J., Tekkis, P., Teklay, B., Tengku, S., Jiménez-Toscano, M., Tsarkov, P., Turina, M., Ulrich, A., Vailati, B. B., Van Harten, M., Verhoef, C., Warrier, S., Wexner, S., De Wilt, H., Weinberg, B. A., Wells, C., Wolthuis, A., Xynos, E., You, N., Zakharenko, A., Zeballos, J. & Winter, D. C., Sep 2021, In: JAMA Surgery. 156, 9, p. 865-874 10 p.

  Research output: Contribution to journal › Review article › peer-review

  • Colorectal Neoplasms 100%
  • Neoadjuvant Therapy 72%
  • Rectal Neoplasms 64%
  • Colonic Neoplasms 56%
  • Late Onset Disorders 42%
  109 Scopus citations

• Considering complexity in the genetic evaluation of dilated cardiomyopathy

  Jordan, E. & Hershberger, R. E., Jan 1 2021, In: Heart. 107, 2, p. 106-112 7 p.

  Research output: Contribution to journal › Review article › peer-review

  • Dilated Cardiomyopathy 100%
  • Genetic Testing 42%
  • Familial dilated cardiomyopathy 34%
  • Genetic Counseling 11%
  • Cardiovascular Diseases 7%
  14 Scopus citations

• Genetic/familial high-risk assessment: Breast, ovarian, and pancreatic, version 2.2021

  Daly, M. B., Pal, T., Berry, M. P., Buys, S. S., Dickson, P., Domchek, S. M., Elkhanany, A., Friedman, S., Goggins, M., Hutton, M. L., Karlan, B. Y., Khan, S., Klein, C., Kohlmann, W., Kurian, A. W., Laronga, C., Litton, J. K., Mak, J. S., Menendez, C. S., Merajver, S. D., & 14 othersNorquist, B. S., Offit, K., Pederson, H. J., Reiser, G., Senter-Jamieson, L., Shannon, K. M., Shatsky, R., Visvanathan, K., Weitzel, J. N., Wick, M. J., Wisinski, K. B., Yurgelun, M. B., Darlow, S. D. & Dwyer, M. A., Jan 2021, In: JNCCN Journal of the National Comprehensive Cancer Network. 19, 1, p. 77-102 26 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Risk Assessment 100%
  • Breast 91%
  • Li-Fraumeni Syndrome 74%
  • Ovarian Neoplasms 65%
  • Breast Neoplasms 61%
  459 Scopus citations

• Polygenic Risk Scores in Prostate Cancer Risk Assessment and Screening

  Byrne, L. & Toland, A. E., Aug 2021, In: Urologic Clinics of North America. 48, 3, p. 387-399 13 p.

  Research output: Contribution to journal › Review article › peer-review
  7 Scopus citations

• Searching Far and Genome-Wide: The Relevance of Association Studies in Amyotrophic Lateral Sclerosis

  Rich, K. A., Roggenbuck, J. & Kolb, S. J., Jan 14 2021, In: Frontiers in Neuroscience. 14, 603023.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Amyotrophic Lateral Sclerosis 100%
  • Genome-Wide Association Study 73%
  • Genome 63%
  • Genetic Association Studies 49%
  • Inborn Genetic Diseases 43%
  12 Scopus citations
• 2020

  Challenges and opportunities in genetic counseling for hereditary endocrine neoplasia syndromes

  Brock, P., Geurts, J. L., Van Galen, P., Blouch, E., Welch, J., Kunz, A., Desrosiers, L., Gauerke, J. & Hyde, S., Aug 2020, In: Endocrine-Related Cancer. 27, 8, p. T65-T75

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Genetic Counseling 100%
  • Multiple Endocrine Neoplasia 31%
  • Neoplasms 29%
  • Human Genetics 27%
  • Counselors 26%
  2 Scopus citations

• Familial Dilated Cardiomyopathy

  Peters, S., Johnson, R., Birch, S., Zentner, D., Hershberger, R. E. & Fatkin, D., Apr 2020, In: Heart Lung and Circulation. 29, 4, p. 566-574 9 p.

  Research output: Contribution to journal › Review article › peer-review

  • Familial dilated cardiomyopathy 100%
  • Dilated Cardiomyopathy 65%
  • Genetic Testing 37%
  • Ventricular Dysfunction 15%
  • Genes 14%
  29 Scopus citations

• Genetic Testing for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: Impact on Clinical Management

  Roggenbuck, J. & Fong, J. C., Sep 2020, In: Clinics in Laboratory Medicine. 40, 3, p. 271-287 17 p.

  Research output: Contribution to journal › Review article › peer-review

  • Frontotemporal Dementia With Motor Neuron Disease 100%
  • Genetic Testing 66%
  • Disorder 55%
  • Genetic Association Studies 34%
  • Standard of Care 31%
  19 Scopus citations

• Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association

  Musunuru, K., Hershberger, R. E., Day, S. M., Klinedinst, N. J., Landstrom, A. P., Parikh, V. N., Prakash, S., Semsarian, C. & Sturm, A. C., Aug 1 2020, In: Circulation: Genomic and Precision Medicine. 13, 4, p. E000067

  Research output: Contribution to journal › Review article › peer-review

  • Genetic Testing 100%
  • American Heart Association 96%
  • Cardiovascular Diseases 70%
  • Hyperlipoproteinemia Type II 59%
  • Human Genetics 59%
  188 Scopus citations

• Stakeholder perspectives on overcoming barriers to cascade testing in lynch syndrome: A qualitative study

  Srinivasan, S., Hampel, H., Leeman, J., Patel, A., Rahm, A. K., Reuland, D. S. & Roberts, M. C., Dec 1 2020, In: Cancer Prevention Research. 13, 12, p. 1037-1046 10 p.

  Research output: Contribution to journal › Review article › peer-review

  • Hereditary Nonpolyposis Colorectal Neoplasms 100%
  • Genetic Testing 31%
  • Behavioral Research 21%
  • Workflow 16%
  • Genetic Counseling 16%
  14 Scopus citations
• 2019

  Barriers and facilitators to genetic testing for familial hypercholesterolemia in the United States: A review

  Hendricks-Sturrup, R. M., Mazor, K. M., Sturm, A. C. & Lu, C. Y., Sep 2019, In: Journal of Personalized Medicine. 9, 3, 32.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Hyperlipoproteinemia Type II 100%
  • Genetic Testing 83%
  • Genetic Phenomena 21%
  • Expert Testimony 16%
  • MEDLINE 14%
  23 Scopus citations

• Chemoprevention agents for melanoma: A path forward into phase 3 clinical trials

  Jeter, J. M., Bowles, T. L., Curiel-Lewandrowski, C., Swetter, S. M., Filipp, F. V., Abdel-Malek, Z. A., Geskin, L. J., Brewer, J. D., Arbiser, J. L., Gershenwald, J. E., Chu, E. Y., Kirkwood, J. M., Box, N. F., Funchain, P., Fisher, D. E., Kendra, K. L., Marghoob, A. A., Chen, S. C., Ming, M. E., Albertini, M. R., & 22 othersVetto, J. T., Margolin, K. A., Pagoto, S. L., Hay, J. L., Grossman, D., Ellis, D. L., Kashani-Sabet, M., Mangold, A. R., Markovic, S. N., Nelson, K. C., Powers, J. G., Robinson, J. K., Sahni, D., Sekulic, A., Sondak, V. K., Wei, M. L., Zager, J. S., Dellavalle, R. P., Thompson, J. A., Weinstock, M. A., Leachman, S. A. & Cassidy, P. B., Jan 1 2019, In: Cancer. 125, 1, p. 18-44 27 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Phase III Clinical Trials 100%
  • Chemoprevention 92%
  • Melanoma 68%
  • Drug Repositioning 19%
  • Biological Products 13%
  31 Scopus citations

• Hereditary Colorectal Cancer Syndromes

  Snyder, C. & Hampel, H., Feb 2019, In: Seminars in Oncology Nursing. 35, 1, p. 58-78 21 p.

  Research output: Contribution to journal › Review article › peer-review

  • Hereditary Neoplastic Syndromes 100%
  • Colorectal Neoplasms 52%
  • Neoplasm Genes 18%
  • Early Detection of Cancer 15%
  • Information Storage and Retrieval 15%
  14 Scopus citations

• Implementing universal cancer screening programs can help sustain genomic medicine programs

  Rahm, A. K., Bellcross, C., Cragun, D., Duquette, D., Hampel, H. & Heald, B., 2019, In: Personalized Medicine. 17, 1, p. 9-13 5 p.

  Research output: Contribution to journal › Review article › peer-review

• PTEN hamartoma tumor syndrome: A clinical overview

  Pilarski, R., Jun 2019, In: Cancers. 11, 6, 844.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Tensins 100%
  • Multiple Hamartoma Syndrome 98%
  • Hamartoma 94%
  • Phosphoric Monoester Hydrolases 78%
  • Neoplasms 24%
  105 Scopus citations
• 2018

  BRCA1 and BRCA2 gene mutations and colorectal cancer risk: Systematic review and meta-analysis

  Oh, M., McBride, A., Yun, S., Bhattacharjee, S., Slack, M., Martin, J. R., Jeter, J. & Abraham, I., Nov 1 2018, In: Journal of the National Cancer Institute. 110, 11, djy148.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • BRCA2 Gene 100%
  • BRCA1 Gene 95%
  • Colorectal Neoplasms 55%
  • Meta-Analysis 52%
  • Systematic Reviews 51%
  93 Scopus citations

• Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel

  Convened by the Familial Hypercholesterolemia Foundation, Aug 7 2018, In: Journal of the American College of Cardiology. 72, 6, p. 662-680 19 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Hyperlipoproteinemia Type II 100%
  • Genetic Testing 83%
  • Proprotein Convertases 19%
  • LDL Receptors 15%
  • Apolipoproteins B 14%
  368 Scopus citations

• Comprehensive study of the clinical phenotype of germline BAP1 variant-carrying families worldwide

  Walpole, S., Pritchard, A. L., Cebulla, C. M., Pilarski, R., Stautberg, M., Davidorf, F. H., de la Fouchardière, A., Cabaret, O., Golmard, L., Stoppa-Lyonnet, D., Garfield, E., Njauw, C. N., Cheung, M., Turunen, J. A., Repo, P., Järvinen, R. S., van Doorn, R., Jager, M. J., Luyten, G. P. M., Marinkovic, M., & 57 othersChau, C., Potrony, M., Höiom, V., Helgadottir, H., Pastorino, L., Bruno, W., Andreotti, V., Dalmasso, B., Ciccarese, G., Queirolo, P., Mastracci, L., Wadt, K., Kiilgaard, J. F., Speicher, M. R., van Poppelen, N., Kilic, E., Al-Jamal, R. T., Dianzani, I., Betti, M., Bergmann, C., Santagata, S., Dahiya, S., Taibjee, S., Burke, J., Poplawski, N., O’Shea, S. J., Newton-Bishop, J., Adlard, J., Adams, D. J., Lane, A. M., Kim, I., Klebe, S., Racher, H., Harbour, J. W., Nickerson, M. L., Murali, R., Palmer, J. M., Howlie, M., Symmons, J., Hamilton, H., Warrier, S., Glasson, W., Johansson, P., Robles-Espinoza, C. D., Ossio, R., de Klein, A., Puig, S., Ghiorzo, P., Nielsen, M., Kivelä, T. T., Tsao, H., Testa, J. R., Gerami, P., Stern, M. H., Bressac-De Paillerets, B., Abdel-Rahman, M. H. & Hayward, N. K., Dec 1 2018, In: Journal of the National Cancer Institute. 110, 12, djy171.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • BRCA1 Protein 100%
  • Clinical Studies 46%
  • Phenotype 40%
  • Neoplasms 19%
  • Mesothelioma 12%
  153 Scopus citations

• Genetic cardiomyopathies

  Wilcox, J. E. & Hershberger, R. E., May 1 2018, In: Current Opinion in Cardiology. 33, 3, p. 354-362 9 p.

  Research output: Contribution to journal › Review article › peer-review

  • Arrhythmogenic Right Ventricular Dysplasia 100%
  • Genetic Testing 98%
  • Cardiomyopathies 92%
  • High-Throughput Nucleotide Sequencing 45%
  • Sarcomeres 30%
  36 Scopus citations

• Interdisciplinary Models for Research and Clinical Endeavors in Genomic Medicine: A Scientific Statement From the American Heart Association

  American Heart Association Council on Genomic and Precision Medicine; Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; Council on Cardiovascular Radiology and Intervention; Council on Peripheral Vascular Disease; Council on Quality of Care and Outcomes Research; and Stroke Council, Jun 1 2018, In: Circulation. Genomic and precision medicine. 11, 6, p. e000046

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Genomics 74%
  • American Heart Association 73%
  • Medicine 53%
  • Research Personnel 25%
  • Human Genome Project 25%
  18 Scopus citations

• NCCN Guidelines(r) insights colorectal cancer screening, version 1.2018 featured updates to the NCCN guidelines

  Provenzale, D., Gupta, S., Ahnen, D. J., Markowitz, A. J., Chung, D. C., Mayer, R. J., Regenbogen, S. E., Blanco, A. M., Bray, T., Cooper, G., Early, D. S., Ford, J. M., Giardiello, F. M., Grady, W., Hall, M. J., Halverson, A. L., Hamilton, S. R., Hampel, H., Klapman, J. B., Larson, D. W., & 10 othersLazenby, A. J., Llor, X., Lynch, P. M., Mikkelson, J., Ness, R. M., Slavin, T. P., Sugandha, S., Weiss, J. M., Dwyer, M. A. & Ogba, N., Aug 1 2018, In: JNCCN Journal of the National Comprehensive Cancer Network. 16, 8, p. 939-949 11 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Early Detection of Cancer 100%
  • Colorectal Neoplasms 83%
  • Guidelines 67%
  111 Scopus citations

• Population Screening for Hereditary Colorectal Cancer

  Hampel, H., Apr 2018, In: Surgical Oncology Clinics of North America. 27, 2, p. 319-325 7 p.

  Research output: Contribution to journal › Review article › peer-review

  • Hereditary Nonpolyposis Colorectal Neoplasms 100%
  • Hereditary Neoplastic Syndromes 76%
  • Colorectal Neoplasms 60%
  • Population 29%
  • Genetic Counseling 27%
  17 Scopus citations

• Recent Advances in Lynch Syndrome: Diagnosis, Treatment, and Cancer Prevention

  Yurgelun, M. B. & Hampel, H., May 23 2018, In: American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting. 38, p. 101-109 9 p.

  Research output: Contribution to journal › Review article › peer-review

  • Hereditary Nonpolyposis Colorectal Neoplasms 100%
  • Neoplasms 24%
  • Therapeutics 12%
  • Neoplastic Processes 11%
  • Microsatellite Instability 10%
  74 Scopus citations

• The Undergraduate Training in Genomics (UTRIG) Initiative: Early & active training for physicians in the genomic medicine era

  Wilcox, R. L., Adem, P. V., Afshinnekoo, E., Atkinson, J. B., Burke, L. W., Cheung, H., Dasgupta, S., Delagarza, J., Joseph, L., Legallo, R., Lew, M., Lockwood, C. M., Meiss, A., Norman, J., Markwood, P., Rizvi, H., Shane-Carson, K. P., Sobel, M. E., Suarez, E., Tafe, L. J., & 2 othersWang, J. & Haspel, R. L., 2018, In: Personalized Medicine. 15, 3, p. 199-208 10 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Genomics 100%
  • Medicine 72%
  • Physicians 62%
  • Curriculum 48%
  • Problem-Based Learning 21%
  24 Scopus citations
• 2017

  Advances in the Treatment of Advanced Extracutaneous Melanomas and Nonmelanoma Skin Cancers

  Komatsubara, K. M., Jeter, J., Carvajal, R. D., Margolin, K., Schadendorf, D. & Hauschild, A., 2017, In: American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting. 37, p. 641-650 10 p.

  Research output: Contribution to journal › Review article › peer-review

  • Skin Neoplasms 100%
  • Melanoma 80%
  • Skin 53%
  • Basal Cell Carcinoma 36%
  • Squamous Cell Carcinoma 26%
  13 Scopus citations

• At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease

  Morales, A., Allain, D. C., Arscott, P., James, E., MacCarrick, G., Murray, B., Tichnell, C., Shikany, A. R., Spencer, S., Fitzgerald-Butt, S. M., Kushner, J. D., Munn, C., Smith, E., Spoonamore, K. G., Tandri, H. S. & Kay, W. A., Aug 1 2017, In: Journal of genetic counseling. 26, 4, p. 669-688 20 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Counselors 100%
  • Heart Diseases 69%
  • Genetic Counseling 62%
  • Heart 55%
  • Mothers 54%
  4 Scopus citations

• BRCA mutation in ovarian cancer: Testing, implications and treatment considerations

  Neff, R. T., Senter, L. & Salani, R., Aug 1 2017, In: Therapeutic Advances in Medical Oncology. 9, 8, p. 519-531 13 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Ovarian Neoplasms 100%
  • Mutation 61%
  • Germ-Line Mutation 24%
  • Homologous Recombination 24%
  • Genetic Testing 22%
  90 Scopus citations

• Clinical Application of Genetic Testing in Heart Failure

  Morales, A. & Hershberger, R., Dec 1 2017, In: Current heart failure reports. 14, 6, p. 543-553 11 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Genetic Testing 100%
  • Heart Failure 70%
  • Phenotype 43%
  • Genetic Models 27%
  • Aptitude 16%
  4 Scopus citations

• Genetic testing and genetic counseling for amyotrophic lateral sclerosis: An update for clinicians

  Roggenbuck, J., Quick, A. & Kolb, S. J., Mar 1 2017, In: Genetics in Medicine. 19, 3, p. 267-274 8 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Genetic Counseling 100%
  • Amyotrophic Lateral Sclerosis 98%
  • Genetic Testing 94%
  • Frontotemporal Dementia With Motor Neuron Disease 47%
  • Whole Exome Sequencing 36%
  58 Scopus citations

• Is Left Ventricular Noncompaction a Trait, Phenotype, or Disease? The Evidence Points to Phenotype

  Hershberger, R. E., Morales, A. & Cowan, J., Dec 1 2017, In: Circulation: Cardiovascular Genetics. 10, 6, e001968.

  Research output: Contribution to journal › Review article › peer-review

  Open Access
  14 Scopus citations

• NCCN guidelines^® insights: Genetic/Familial High-Risk Assessment: Colorectal, version 3.2017 featured updates to the NCCN Guidelines

  Gupta, S., Provenzale, D., Regenbogen, S. E., Hampel, H., Slavin, T. P., Hall, M. J., Llor, X., Chung, D. C., Ahnen, D. J., Bray, T., Cooper, G., Early, D. S., Ford, J. M., Giardiello, F. M., Grady, W., Halverson, A. L., Hamilton, S. R., Klapman, J. B., Larson, D. W., Lazenby, A. J., & 10 othersLynch, P. M., Markowitz, A. J., Mayer, R. J., Ness, R. M., Samadder, N. J., Shike, M., Sugandha, S., Weiss, J. M., Dwyer, M. A. & Ogba, N., Dec 1 2017, In: JNCCN Journal of the National Comprehensive Cancer Network. 15, 12, p. 1465-1475 11 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Risk Assessment 100%
  • Guidelines 77%
  • Colorectal Neoplasms 63%
  • Genes 16%
  101 Scopus citations

• Tumor microenvironment changes leading to resistance of immune checkpoint inhibitors in metastatic melanoma and strategies to overcome resistance

  Pulluri, B., Kumar, A., Shaheen, M., Jeter, J. & Sundararajan, S., Sep 2017, In: Pharmacological Research. 123, p. 95-102 8 p.

  Research output: Contribution to journal › Review article › peer-review

  • Tumor Microenvironment 100%
  • Melanoma 79%
  • Immunotherapy 36%
  • Mitogen-Activated Protein Kinase Kinases 29%
  • Programmed Cell Death 1 Receptor 19%
  49 Scopus citations
• 2016

  Barriers to a career focus in cancer prevention: A report and initial recommendations from the American Society of Clinical Oncology Cancer Prevention Workforce Pipeline Work Group

  Fabian, C. J., Meyskens, F. L., Bajorin, D. F., George, T. J., Jeter, J. M., Khan, S., Tyne, C. A. & William, W. N., Jan 10 2016, In: Journal of Clinical Oncology. 34, 2, p. 186-193 8 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Medical Oncology 100%
  • Workforce 81%
  • Mentors 52%
  • Oncologists 46%
  • Neoplasms 27%
  5 Scopus citations

• Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases

  Rai, K., Pilarski, R., Cebulla, C. M. & Abdel-Rahman, M. H., Mar 1 2016, In: Clinical Genetics. 89, 3, p. 285-294 10 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • BRCA1 Protein 100%
  • Mutation 25%
  • Neoplasms 21%
  • Hereditary Neoplastic Syndromes 16%
  • Uveal melanoma 14%
  171 Scopus citations

• PMS2 monoallelic mutation carriers: The known unknown

  Goodenberger, M. L., Thomas, B. C., Riegert-Johnson, D., Boland, C. R., Plon, S. E., Clendenning, M., Win, A. K., Senter, L., Lipkin, S. M., Stadler, Z. K., Macrae, F. A., Lynch, H. T., Weitzel, J. N., De La Chapelle, A., Syngal, S., Lynch, P., Parry, S., Jenkins, M. A., Gallinger, S., Holter, S., & 10 othersAronson, M., Newcomb, P. A., Burnett, T., Le Marchand, L., Pichurin, P., Hampel, H., Terdiman, J. P., Lu, K. H., Thibodeau, S. & Lindor, N. M., Jan 1 2016, In: Genetics in Medicine. 18, 1, p. 13-19 7 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Penetrance 100%
  • Germ-Line Mutation 97%
  • Guidelines 92%
  • Mutation 80%
  • DNA Mismatch Repair 68%
  48 Scopus citations

• Qualitative Comparative Analysis: A Hybrid Method for Identifying Factors Associated With Program Effectiveness

  Cragun, D., Pal, T., Vadaparampil, S. T., Baldwin, J., Hampel, H. & DeBate, R. D., Jul 1 2016, In: Journal of Mixed Methods Research. 10, 3, p. 251-272 22 p.

  Research output: Contribution to journal › Review article › peer-review

  • Hybrid Method 100%
  • Comparative Analysis 89%
  • Qualitative Comparative Analysis (QCA) 88%
  • Qualitative Analysis 82%
  • Tumor 35%
  51 Scopus citations

• Understanding the contribution of family history to colorectal cancer risk and its clinical implications: A state-of-the-science review

  Lowery, J. T., Ahnen, D. J., Schroy, P. C., Hampel, H., Baxter, N., Boland, C. R., Burt, R. W., Butterly, L., Doerr, M., Doroshenk, M., Feero, W. G., Henrikson, N., Ladabaum, U., Lieberman, D., McFarland, E. G., Peterson, S. K., Raymond, M., Samadder, N. J., Syngal, S., Weber, T. K., & 2 othersZauber, A. G. & Smith, R., Sep 1 2016, In: Cancer. 122, 17, p. 2633-2645 13 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Colorectal Neoplasms 100%
  • Guidelines 29%
  • Consensus 21%
  • Communication Barriers 15%
  • Early Detection of Cancer 10%
  123 Scopus citations
• 2015

  A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: Referral indications for cancer predisposition assessment

  Hampel, H., Bennett, R. L., Buchanan, A., Pearlman, R. & Wiesner, G. L., Jan 10 2015, In: Genetics in Medicine. 17, 1, p. 70-87 18 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Medical Genetics 100%
  • Counselors 86%
  • Genomics 75%
  • Practice Guidelines 69%
  • Referral and Consultation 54%
  390 Scopus citations

• Certified Genetic Counselors: A Crucial Clinical Resource in the Management of Patients with Suspected Hereditary Cancer Syndromes

  Ali-Khan Catts, Z. & Doll, H. L., Oct 1 2015, In: Surgical Oncology Clinics of North America. 24, 4, p. 653-666 14 p.

  Research output: Contribution to journal › Review article › peer-review
  8 Scopus citations

• Genetics and Genetic Testing in Congenital Heart Disease

  Cowan, J. R. & Ware, S. M., Jun 1 2015, In: Clinics in Perinatology. 42, 2, p. 373-393 21 p.

  Research output: Contribution to journal › Review article › peer-review

  • Congenital Heart Defects 100%
  • Genetic Testing 88%
  • Heart Diseases 69%
  • Molecular Biology 13%
  • Parturition 11%
  97 Scopus citations

• Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait

  Gregory Feero, W., Facio, F. M., Glogowski, E. A., Hampel, H. L., Stopfer, J. E., Eidem, H., Pizzino, A. M., Barton, D. K. & Biesecker, L. G., Sep 2 2015, In: Genetics in Medicine. 17, 9, p. 753-756 4 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Family Health 100%
  • Risk Assessment 72%
  • Colorectal Neoplasms 69%
  • Surgeons 61%
  • Counselors 50%
  11 Scopus citations

• The genetics of Charcot–Marie–Tooth disease: Current trends and future implications for diagnosis and management

  Chad Hoyle, J., Isfort, M. C., Roggenbuck, J. & David Arnold, W., Oct 19 2015, In: Application of Clinical Genetics. 8, p. 235-243 9 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • High-Throughput Nucleotide Sequencing 100%
  • Inborn Genetic Diseases 96%
  • Hereditary Sensory and Autonomic Neuropathies 41%
  • Talipes Cavus 40%
  • Inheritance Patterns 33%
  57 Scopus citations
• 2014

  Gene panel testing for inherited cancer risk

  Hall, M. J., Forman, A. D., Pilarski, R., Wiesner, G. & Giri, V. N., Sep 1 2014, In: JNCCN Journal of the National Comprehensive Cancer Network. 12, 9, p. 1339-1346 8 p.

  Research output: Contribution to journal › Review article › peer-review

  • Genes 100%
  • Neoplasms 80%
  • Counselors 48%
  • Genetic Counseling 45%
  • Genetic Testing 42%
  116 Scopus citations

• Genetic Predisposition for Nonmedullary Thyroid Cancer

  Nagy, R. & Ringel, M. D., Feb 2014, In: Hormones and Cancer. 6, 1, p. 13-20 8 p.

  Research output: Contribution to journal › Review article › peer-review

  Open Access

  • Genetic Predisposition to Disease 100%
  • Thyroid Neoplasms 99%
  • Papillary Thyroid Cancer 48%
  • Hereditary Neoplastic Syndromes 21%
  • Technology 9%
  22 Scopus citations