Projects per year
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Dive into the research topics where Internal Medicine - Human Genetics is active. These topic labels come from the works of this organization's members. Together they form a unique fingerprint.
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
Profiles
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Precision Medicine for Dilated Cardiomyopathy-Cardiac Magnetic Resonance to Identify Early Family Phenotypes
Hershberger, R. E. (PI), Kinnamon, D. D. (CoPI) & Zareba, K. (CoPI)
NATIONAL HEART, LUNG, AND BLOOD INSTITUTE
07/1/20 → 05/31/25
Project: Research
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Video Intervention to Address Pre-Test Patient Education for Tumor Genomic Testing
Stover, D. (PI) & Senter-Jamieson, L. A. (CoPI)
05/1/21 → 04/30/22
Project: Research
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Shared Resource 02: Biospecimen Services (BSSR)
Doll, H. L. (PI) & Hampel, H. H. L. (PI)
12/1/20 → 11/30/23
Project: Research
Research output
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Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications
Walker, R., Joo, J. E., Mahmood, K., Clendenning, M., Como, J., Preston, S. G., Joseland, S., Pope, B. J., Medeiros, A. B. D., Murillo, B. V., Pachter, N., Sweet, K., Spigelman, A. D., Groves, A., Gleeson, M., Bernatowicz, K., Poplawski, N., Andrews, L., Healey, E. & Gallinger, S. & 10 others, , Feb 2025, In: Translational Oncology. 52, 102266.Research output: Contribution to journal › Article › peer-review
Open Access -
Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members
Howard, J., Chaouch, A., Douglas, A. G. L., MacLeod, R., Roggenbuck, J. & McNeill, A., Jan 2025, In: European Journal of Human Genetics. 33, 1, p. 7-13 7 p., 12408.Research output: Contribution to journal › Review article › peer-review
Open Access1 Scopus citations -
Hormonal Contraception and Breast Cancer Risk for Carriers of Germline Mutations in BRCA1 and BRCA2
the Kathleen Cuningham Foundation Consortium for Research Into Familial Breast Cancer, the Risk Factor Analysis of Hereditary Breast and Ovarian Cancer Study, the Basser Center University of Pennsylvania Registry & the Breast Cancer Family Registry, Feb 1 2025, In: Journal of Clinical Oncology. 43, 4, p. 422-431 10 p.Research output: Contribution to journal › Article › peer-review