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

• 2022

  Response to McGurk et al

  ACMG Secondary Findings Working Group, Mar 2022, In: Genetics in Medicine. 24, 3, p. 747-748 2 p.

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

  Open Access
• 2021

  Adult-onset acute myeloid leukaemia in a patient with germline mutation of CBL

  Ali, A. M., Cooper, J., Walker, A., Jones, D. & Saad, A., Feb 2021, In: British Journal of Haematology. 192, 3, p. 665-667 3 p.

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

  Open Access
  4 Scopus citations

• Response to Li and Hopper

  Thomas, M., Sakoda, L. C., Hoffmeister, M., Rosenthal, E. A., Lee, J. K., van Duijnhoven, F. J. B., Platz, E. A., Wu, A. H., Dampier, C. H., de la Chapelle, A., Wolk, A., Joshi, A. D., Burnett-Hartman, A., Gsur, A., Lindblom, A., Castells, A., Win, A. K., Namjou, B., Van Guelpen, B., Tangen, C. M., & 77 othersHe, Q., Li, C. I., Schafmayer, C., Joshu, C. E., Ulrich, C. M., Bishop, D. T., Buchanan, D. D., Schaid, D., Drew, D. A., Muller, D. C., Duggan, D., Crosslin, D. R., Albanes, D., Giovannucci, E. L., Larson, E., Qu, F., Mentch, F., Giles, G. G., Hakonarson, H., Hampel, H., Stanaway, I. B., Figueiredo, J. C., Huyghe, J. R., Minnier, J., Chang-Claude, J., Hampe, J., Harley, J. B., Visvanathan, K., Curtis, K. R., Offit, K., Li, L., Le Marchand, L., Vodickova, L., Gunter, M. J., Jenkins, M. A., Slattery, M. L., Lemire, M., Woods, M. O., Song, M., Murphy, N., Lindor, N. M., Dikilitas, O., Pharoah, P. D. P., Campbell, P. T., Newcomb, P. A., Milne, R. L., MacInnis, R. J., Castellví-Bel, S., Ogino, S., Berndt, S. I., Bézieau, S., Thibodeau, S. N., Gallinger, S. J., Zaidi, S. H., Harrison, T. A., Keku, T. O., Hudson, T. J., Vymetalkova, V., Moreno, V., Martín, V., Arndt, V., Wei, W. Q., Chung, W., Su, Y. R., Hayes, R. B., White, E., Vodicka, P., Casey, G., Gruber, S. B., Schoen, R. E., Chan, A. T., Potter, J. D., Brenner, H., Jarvik, G. P., Corley, D. A., Peters, U. & Hsu, L., Mar 4 2021, In: American Journal of Human Genetics. 108, 3, p. 527-529 3 p.

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

  Open Access
  4 Scopus citations
• 2019

  MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer

  Roberts, M. E., Zeinomar, N., Solomon, B. D., Terry, M. B. & Chung, W. K., Sep 1 2019, In: Genetics in Medicine. 21, 9, p. 2158 1 p.

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

  Open Access

• Response to Evans et al.

  Roberts, M. E., Zeinomar, N., Solomon, B. D., Terry, M. B. & Chung, W. K., Aug 1 2019, In: Genetics in Medicine. 21, 8, p. 1880-1881 2 p.

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

  Open Access
  1 Scopus citations

• Response to Katona et al

  Oh, M., McBride, A., Yun, S., Bhattacharjee, S., Slack, M., Martin, J. R., Jeter, J. & Abraham, I., May 1 2019, In: Journal of the National Cancer Institute. 111, 5, p. 524-525 2 p., djz013.

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

  Open Access
  1 Scopus citations

• Response to ten Broeke et al

  Roberts, M. E., Zeinomar, N., Solomon, B. D., Terry, M. B. & Chung, W. K., Jan 1 2019, In: Genetics in Medicine. 21, 1, p. 258-259 2 p.

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

  Open Access
  2 Scopus citations

• “Histology of colorectal adenocarcinoma with double somatic mismatch-repair mutations is indistinguishable from those caused by Lynch syndrome”—reply

  Pearlman, R., Hemminger, J. A., Doll, H. L. & Frankel, W. L., Jul 1 2019, In: Human Pathology. 89, p. 116-117 2 p.

  Research output: Contribution to journal › Letter › peer-review
  1 Scopus citations
• 2018

  Emergence of a RET V804M Gatekeeper Mutation During Treatment With Vandetanib in RET-Rearranged NSCLC

  Dagogo-Jack, I., Stevens, S. E., Lin, J. J., Nagy, R., Ferris, L., Shaw, A. T. & Gainor, J. F., Nov 2018, In: Journal of Thoracic Oncology. 13, 11, p. e226-e227

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

  Open Access
  40 Scopus citations
• 2017

  In reply

  Pearlman, R., De la Chapelle, A. & Hampel, H., Nov 2017, In: JAMA Oncology. 3, 11, p. 1587 1 p.

  Research output: Contribution to journal › Letter › peer-review
  4 Scopus citations

• Lack of evidence for germline RNF43 mutations in patients with serrated polyposis syndrome from a large multinational study

  Buchanan, D. D., Clendenning, M., Zhuoer, L., Stewart, J. R., Joseland, S., Woodall, S., Arnold, J., Semotiuk, K., Aronson, M., Holter, S., Gallinger, S., Jenkins, M. A., Sweet, K., Macrae, F. A., Winship, I. M., Parry, S. & Rosty, C., Jun 1 2017, In: Gut. 66, 6, p. 1170-1172 3 p.

  Research output: Contribution to journal › Letter › peer-review
  44 Scopus citations
• 2016

  Correspondence

  Sorscher, S. M., Pilarski, R. & Daly, M., May 1 2016, In: Journal of the National Comprehensive Cancer Network : JNCCN. 14, 5, p. l-li

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

  Open Access

• Genetic variants in thyroid cancer distant metastases

  Justiniano, S. E., McElroy, J. P., Yu, L., Yilmaz, A. S., Coombes, K. R., Senter, L., Nagy, R., Wakely, P., Volinia, S., Vinco, M., Giordano, T. J., Croce, C. M., Saji, M. & Ringel, M. D., Oct 2016, In: Endocrine-Related Cancer. 23, 10, p. L33-L36

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

  Open Access
  7 Scopus citations

• MicroRNA expression profiling in metastatic cutaneous squamous cell carcinoma

  Gillespie, J., Skeeles, L. E., Allain, D. C., Kent, M. N., Peters, S. B., Nagarajan, P., Yu, L., Teknos, T. N., Olencki, T. & Toland, A. E., 2016, In: Journal of the European Academy of Dermatology and Venereology. 30, 6, p. 1043-1045 3 p.

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

  Open Access
  17 Scopus citations

• The authors' reply

  Pilarski, R. & Daly, M., May 1 2016, In: JNCCN Journal of the National Comprehensive Cancer Network. 14, 5, p. 1-li

  Research output: Contribution to journal › Letter › peer-review
• 2015

  The cost-effectiveness of routine testing for Lynch syndrome in newly diagnosed patients with colorectal cancer in the United States: Corrected estimates

  Grosse, S. D., Palomaki, G. E., Mvundura, M. & Hampel, H., Jun 4 2015, In: Genetics in Medicine. 17, 6, p. 510-511 2 p.

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

  Open Access
  27 Scopus citations
• 2014

  Response

  Pilarski, R., Burt, R., Kohlman, W., Pho, L., Shannon, K. M. & Swisher, E., Jun 11 2014, In: Journal of the National Cancer Institute. 106, 6

  Research output: Contribution to journal › Letter › peer-review
• 2013

  In rare acute myeloid leukemia patients harboring both RUNX1 and NPM1 mutations, RUNX1 mutations are unusual in structure and present in the germline

  Mendler, J. H., Maharry, K., Becker, H., Eisfeld, A. K., Senter, L., Mrózek, K., Kohlschmidt, J., Metzeler, K. H., Schwind, S., Whitman, S. P., Khalife, J., Caligiuri, M. A., Klisovic, R. B., Moore, J. O., Carter, T. H., Marcucci, G. & Bloomfield, C. D., Aug 1 2013, In: Haematologica. 98, 8, p. 98.e92-98.e94

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

  Open Access
  9 Scopus citations
• 2012

  High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome

  Riegert-Johnson, D. L., Westra, W. & Roberts, M., Feb 2012, In: Gut. 61, 2, p. 322 1 p.

  Research output: Contribution to journal › Letter › peer-review
  9 Scopus citations

• Lifetime cancer risks of PTEN mutation carriers - Letter

  Daniels, M. S., Rich, T., Weissman, S. & Pilarski, R., Aug 1 2012, In: Clinical Cancer Research. 18, 15, p. 4213 1 p.

  Research output: Contribution to journal › Letter › peer-review
  6 Scopus citations
• 2011

  Barcoding allows immediate downloading of powerpoint presentations by smart phones

  Riegert-Johnson, D. & Roberts, M., 2011, In: Medical Education Online. 16, 1, 11743.

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

• Dual percutaneous mechanical circulatory support as a bridge to recovery in fulminant myocarditis

  Tanawuttiwat, T., Trachtenberg, B. H., Hershberger, R. E., Hare, J. M. & Cohen, M. G., Sep 2011, In: ASAIO Journal. 57, 5, p. 477-479 3 p.

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

  Open Access
  5 Scopus citations

• Investigation of the ABC transporter MRP1 in selected patients with presumed defects in vitamin B12 absorption

  Shah, N. P., Beech, C. M., Sturm, A. C. & Tanner, S. M., Apr 21 2011, In: Blood. 117, 16, p. 4397-4398 2 p.

  Research output: Contribution to journal › Letter › peer-review
  11 Scopus citations
• 2010

  Whole-brain radiation therapy in melanoma: an open question

  Cranmer, L. D., Jeter, J. M., Morgan, S. S., Hersh, E. M. & Stea, B., Jan 1 2010, In: The Lancet Oncology. 11, 1, 1 p.

  Research output: Contribution to journal › Letter › peer-review
  4 Scopus citations
• 2009

  Identifying Lynch syndrome

  De La Chapelle, A., Palomaki, G. & Hampel, H., Sep 15 2009, In: International Journal of Cancer. 125, 6, p. 1492-1493 2 p.

  Research output: Contribution to journal › Letter › peer-review
  32 Scopus citations

• Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIF

  Ament, A. E., Li, Z., Sturm, A. C., Perko, J. D., Lawson, S., Masterson, M., Quadros, E. V. & Tanner, S. M., Feb 2009, In: British Journal of Haematology. 144, 4, p. 622-624 3 p.

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

  Open Access
  19 Scopus citations

• Reply to L.H. Jensen et al and S. Jahn et al

  Hampel, H., Frankel, W. & De La Chapelle, A., Dec 1 2009, In: Journal of Clinical Oncology. 27, 34, p. e225

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

  Open Access
  1 Scopus citations
• 2008

  The Reply

  Hess, L. M., Jeter, J., Alberts, D. S. & Benham-Hutchins, M., Dec 2008, In: American Journal of Medicine. 121, 12, p. e23

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

  Open Access
• 2007

  Comment on: Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients

  Hampel, H., Panescu, J., Lockman, J., Sotamaa, K., Fix, D., Comeras, I., LaJeunesse, J., Nakagawa, H., Westman, J. A., Prior, T. W., Clendenning, M., De La Chapelle, A., Frankel, W., Penzone, P., Cohn, D. E., Copeland, L., Eaton, L., Fowler, J., Lombardi, J., Dunn, P., & 4 othersBell, J., Reid, G., Lewandowski, G. & Vaccarello, L., Oct 1 2007, In: Cancer Research. 67, 19, p. 9603 1 p.

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

  Open Access
  93 Scopus citations
• 2006

  Reply [7]

  Hershberger, R. E., Feb 7 2006, In: Journal of the American College of Cardiology. 47, 3, p. 690 1 p.

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

• Utilization of genetic counseling services by surgical oncologists: Education a must [1]

  Agnese, D. M., Hampel, H. & Farrar, W. B., Dec 2006, In: Clinical Genetics. 70, 6, p. 524-525 2 p.

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

  Open Access
  2 Scopus citations
• 2005

  Screening for the Lynch syndrome [1] (multiple letters)

  Ramsey, S. D., Hampel, H., De La Chapelle, A. & Benton, W. C., Aug 4 2005, In: New England Journal of Medicine. 353, 5, p. 524-525 2 p.

  Research output: Contribution to journal › Letter › peer-review
  5 Scopus citations
• 2003

  Use of fear-appeal techniques in the design of tailored cancer risk communication messages: Implications for healthcare providers

  Sweet, K. M., Willis, S. K., Ashida, S. & Westman, J. A., Sep 1 2003, In: Journal of Clinical Oncology. 21, 17, p. 3375-3376 2 p.

  Research output: Contribution to journal › Letter › peer-review
  18 Scopus citations
• 2001

  Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma [2]

  Chadwick, R. B., Pyatt, R. E., Niemann, T. H., Richards, S. K., Johnson, C. K., Stevens, M. W., Meek, J. E., Hampel, H., Prior, T. W. & De la Chapelle, A., 2001, In: Journal of Medical Genetics. 38, 7, p. 461-466 6 p.

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

  34 Scopus citations

• High frequencies of ICF syndrome-like pericentromeric heterochromatin decondensation and breakage in chromosome 1 in a chorionic villus sample [10]

  Ehrlich, M., Tsien, F., Herrera, D., Blackman, V., Roggenbuck, J. & Tuck-Muller, C. M., 2001, In: Journal of Medical Genetics. 38, 12, p. 882-884 3 p.

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

  9 Scopus citations
• 1999

  Consensus recommendations for the management of chronic heart failure: Introduction

  Packer, M., Cohn, J. N., Abraham, W. T., Colucci, W. S., Fowler, M. B., Greenberg, B. H., Leier, C. V., Massie, B. M., Young, J. B., Aaronson, K. D., Abrams, J., Adams, K. F., Alpert, J. S., Anand, I. S., Armstrong, P. W., Baker, D. W., Bank, A. J., Beller, G. A., Borer, J. S., Bourge, R. C., & 79 othersBurnett, J. C., Carabello, B. A., Carson, P. E., Chatterjee, K., Cintron, G. B., Cody, R. J., Conti, C. R., Costanzo, M. R., Creager, M. A., Curry, C. L., Dec, G. W., Deedwania, P. C., Dell'Italia, L., De Marchena, E., De Marco, T., DeMaria, A. N., DiBianco, R., Donohue, T. J., Douglass, P., Dunkman, W. B., Elkayam, U., Falk, R. H., Feldman, A. M., Ferdinand, K. C., Fletcher, R. D., Fonarow, G. C., Franciosa, J., Francis, G. S., Frantz, R. P., Gaasch, W. H., Geltman, E. M., Gheorghiade, M., Gilbert, E. M., Giles, T. D., Givertz, M. M., Goldman, S., Goldsmith, S. R., Goldstein, S., Gottlieb, S. S., Gradman, A. H., Gregory, J. J., Haeusslein, E., Hargrove, J. L., Hermann, D. D., Hershberger, R., Heywood, J. T., Higginbotham, M. B., Hill, J. A., Hood, W. B., Hosenpud, J. D., Jafri, S. A. Q., James, F. S., Jessup, M., Johnston, T. S., Jugdutt, B. I., Kahl, F. R., Kantrowitz, N. E., Kasper, E. K., Katz, A. M., Katz, R. J., Katz, S. D., Kirlin, P. C., Kohn, R. M., Konstam, M. A., Kostis, J. B., Kowey, P. R., Krueger, S. K., Kukin, M. L., Kumpuris, A. G., Le Jemtel, T., Lee, F. A., Levine, T. B., Liang, C. S., Loeb, H. S., Loh, E., Lorell, B. H., Lutz, J., Mallis, G. I. & Mancini, D. M., Jan 21 1999, In: American Journal of Cardiology. 83, 2 A, p. 1A-38A

  Research output: Contribution to journal › Letter › peer-review
  509 Scopus citations
• 1994

  Pathologic fractures may develop in gaucher patients receiving enzyme replacement therapy

  Sidransky, E., Ginns, E. I., Westman, J. A. & Ehmann, W. C., Nov 1994, In: American Journal of Hematology. 47, 3, p. 247-249 3 p.

  Research output: Contribution to journal › Letter › peer-review
  18 Scopus citations
• 1989

  4(del p) syndrome and cytomegalovirus.

  Hamoudi, A. C., Mahan, J. D., Westman, J. A. & Sommer, A., 1989, In: Pediatric pathology / affiliated with the International Paediatric Pathology Association. 9, 2, p. 231-234 4 p.

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

  2 Scopus citations
• 1985

  Effectiveness of moped legislation.

  Westman, J. A., Aug 1985, In: Pediatrics. 76, 2, p. 331 1 p.

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