Knoppers, Bartha M.

The repertoire of mutational signatures in human cancer

Alexandrov, L. B., Kim, J., Haradhvala, N. J., Huang, M. N., Tian Ng, A. W., Wu, Y., Boot, A., Covington, K. R., Gordenin, D. A., Bergstrom, E. N., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 3,496

Pan-cancer analysis of whole genomes

The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, Aaltonen, L. A., Abascal, F., Abeshouse, A., Aburatani, H., Adams, D. J., Agrawal, N., Ahn, K. S., Ahn, S.-M., Aikata, H., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 3,064

The evolutionary history of 2,658 cancers

Gerstung, M., Jolly, C., Leshchiner, I., Dentro, S. C., Gonzalez, S., Rosebrock, D., Mitchell, T. J., Rubanova, Y., Anur, P., Yu, K., et al. (2020) · Nature

Cancer Genomics and DiagnosticsChromatin Remodeling and Cancer

Cited by 1,057

Patterns of somatic structural variation in human cancer genomes

Li, Y., Roberts, N. D., Wala, J. A., Shapira, O., Schumacher, S. E., Kumar, K., Khurana, E., Waszak, S., Korbel, J. O., Haber, J. E., et al. (2020) · Nature

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 867

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

C Yuen, R. K., Merico, D., Bookman, M., L Howe, J., Thiruvahindrapuram, B., Patel, R. V., Whitney, J., Deflaux, N., Bingham, J., Wang, Z., et al. (2017) · Nature Neuroscience

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 844

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

Cortés-Ciriano, I., Lee, J. J.-K., Xi, R., Jain, D., Jung, Y. L., Yang, L., Gordenin, D., Klimczak, L. J., Zhang, C.-Z., Pellman, D. S., et al. (2020) · Nature Genetics

Cancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 712

Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

Rodriguez-Martin, B., Alvarez, E. G., Baez-Ortega, A., Zamora, J., Supek, F., Demeulemeester, J., Santamarina, M., Ju, Y. S., Temes, J., Garcia-Souto, D., et al. (2020) · Nature Genetics

Genomic variations and chromosomal abnormalitiesCancer Genomics and Diagnostics

Cited by 451

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Boycott, K. M., Rath, A., Chong, J. X., Hartley, T., Alkuraya, F. S., Baynam, G., Brookes, A. J., Brudno, M., Carracedo, A., den Dunnen, J. T., et al. (2017) · The American Journal of Human Genetics

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 447

Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps

Polygenic Risk Score Task Force of the International Common Disease Alliance, Adeyemo, A., Balaconis, M. K., Darnes, D. R., Fatumo, S., Granados Moreno, P., Hodonsky, C. J., Inouye, M., Kanai, M., Kato, K., et al. (2021) · Nature Medicine

Genetic Associations and EpidemiologyRace, Genetics, and Society

Cited by 413

Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer

Akdemir, K. C., Le, V. T., Chandran, S., Li, Y., Verhaak, R. G., Beroukhim, R., Campbell, P. J., Chin, L., Dixon, J. R., Futreal, P. A., et al. (2020) · Nature Genetics

Genomics and Chromatin DynamicsChromatin Remodeling and Cancer

Cited by 283

A review of the key issues associated with the commercialization of biobanks

Caulfield, T., Burningham, S., Joly, Y., Master, Z., Shabani, M., Borry, P., Becker, A., Burgess, M., Calder, K., Critchley, C., et al. (2014) · Journal of Law and the Biosciences

Ethics in Clinical ResearchBiomedical Ethics and Regulation

Cited by 126

Editing policy to fit the genome?

Isasi, R., Kleiderman, E., & Knoppers, B. M. (2016) · Science

Biomedical Ethics and RegulationCRISPR and Genetic Engineering

Cited by 101

Is rigorous retrospective harmonization possible? Application of the DataSHaPER approach across 53 large studies

Fortier, I., Doiron, D., Little, J., Ferretti, V., L’Heureux, F., Stolk, R. P., Knoppers, B. M., Hudson, T. J., & Burton, P. R. (2011) · International Journal of Epidemiology

Research Data Management PracticesStatistical Methods in Epidemiology

Cited by 101

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L

Yoon, G., Malam, Z., Paton, T., Marshall, C. R., Hyatt, E., Ivakine, Z., Scherer, S. W., Lee, K.-S., Hawkins, C., Cohn, R. D., et al. (2016) · The Journal of Pediatrics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 78

Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?

Friedman, J. M., Bombard, Y., Cornel, M. C., Fernandez, C. V., Junker, A. K., Plon, S. E., Stark, Z., & Knoppers, B. M. (2019) · Genetics in Medicine

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 44

Artificial Intelligence in Cardiovascular Imaging: “Unexplainable” Legal and Ethical Challenges?

Lang, M., Bernier, A., & Knoppers, B. M. (2022) · Canadian Journal of Cardiology

Artificial Intelligence in Healthcare and EducationExplainable Artificial Intelligence (XAI)

Cited by 37

Overcoming barriers to facilitate the regulation of multi-centre regenerative medicine clinical trials

Kleiderman, E., Boily, A., Hasilo, C., & Knoppers, B. M. (2018) · Stem Cell Research & Therapy

Biomedical Ethics and RegulationEthics in Clinical Research

Cited by 34

Further delineation of BCAP31‐linked intellectual disability: description of 17 new families with LoF and missense variants

Whalen, S., Shaw, M., Mignot, C., Héron, D., Bastaraud, S. C., Walti, C. C., Liebelt, J., Elmslie, F., Yap, P., Hurst, J., et al. (2021) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 15

International scope of biomedical research ethics review

Rothstein, M. A., Zimmerer, K. C., Andanda, P., Arawi, T., Arzuaga, F., Chen, H., de Vries, M., Dove, E. S., Ghaly, M., Hatanaka, R., et al. (2024) · Science

Ethics in Clinical ResearchBiomedical Ethics and Regulation

Cited by 12