Research output per year
Research output per year
Personal profile
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Dive into the research topics where Nicholas Pachter is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
- 1 Similar Profiles
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
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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, 11 p., 102266.Research output: Contribution to journal › Article › peer-review
Open Access3 Citations (Scopus) -
Assessing the unmet needs of genomic testing in Australia: a geospatial exploration
Casauria, S., Collins, F., White, S. M., Konings, P., Wallis, M., Pachter, N., McGaughran, J., Barnett, C. & Best, S., Apr 2025, In: European Journal of Human Genetics. 33, 4, p. 496-503 8 p., 4966.Research output: Contribution to journal › Article › peer-review
2 Citations (Web of Science) -
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship
Australian Genomics Cardiovascular Disorders Flagship, Austin, R., Brown, J. S., Casauria, S., Madelli, E. O., Mattiske, T., Boughtwood, T., Metke, A., Davis, A., Horton, A. E., Winlaw, D., Das, D., Soka, M., Giannoulatou, E., Rath, E. M., Haan, E., Blue, G. M., Vohra, J., Atherton, J. J. & van Spaendonck-Zwarts, K. & 22 others, , Jan 2024, In: Genetics in Medicine Open. 2, 101842.Research output: Contribution to journal › Article › peer-review
Open Access6 Citations (Scopus) -
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death (Nature Medicine, (2023), 29, 1, (180-189), 10.1038/s41591-022-02142-1)
Broad Institute Center for Mendelian Genomics & Genomic Autopsy Study Research Network, Jan 2024, In: Nature Medicine. 30, 1, p. 302 1 p.Research output: Contribution to journal › Comment/debate › peer-review
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Nationwide, Couple-Based Genetic Carrier Screening
Mackensie's Mission Investigators, Azmanov, D., Kennedy, J., Beilby, J., Pachter, N., Allcock, R. J. N., Edwards, S. & Laing, N. G., 21 Nov 2024, In: New England Journal of Medicine. 391, 20, p. 1877-1889 13 p.Research output: Contribution to journal › Article › peer-review
29 Citations (Scopus)
Datasets
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A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome
A tumor focused approach to resolving the etiology of DNA mismatch repair deficient tumors classified as suspected Lynch syndrome, Walker, R. (Contributor), Mahmood, K. (Contributor), Joo, J. E. (Contributor), Clendenning, M. (Contributor), Georgeson, P. (Contributor), Como, J. (Contributor), Joseland, S. (Contributor), Preston, S. G. (Contributor), Antill, Y. (Contributor), Austin, R. (Contributor), Boussioutas, A. (Contributor), Bowman, M. (Contributor), Burke, J. (Contributor), Campbell, A. (Contributor), Daneshvar, S. (Contributor), Edwards, E. (Contributor), Gleeson, M. (Contributor), Goodwin, A. (Contributor), Harris, M. T. (Contributor), Henderson, A. (Contributor), Higgins, M. (Contributor), Hopper, J. L. (Contributor), Hutchinson, R. A. (Contributor), Ip, E. (Contributor), Isbister, J. (Contributor), Kasem, K. (Contributor), Marfan, H. (Contributor), Milnes, D. (Contributor), Ng, A. (Contributor), Nichols, C. (Contributor), O’Connell, S. (Contributor), Pachter, N. (Contributor), Pope, B. J. (Contributor), Poplawski, N. (Contributor), Ragunathan, A. (Contributor), Smyth, C. (Contributor), Spigelman, A. (Contributor), Storey, K. (Contributor), Susman, R. (Contributor), Taylor, J. A. (Contributor), Warwick, L. (Contributor), Wilding, M. (Contributor), Williams, R. (Contributor), Win, A. K. (Contributor), Walsh, M. D. (Contributor), Macrae, F. A. (Contributor), Jenkins, M. A. (Contributor), Rosty, C. (Contributor), Winship, I. M. (Contributor) & Buchanan, D. D. (Contributor), Figshare, 27 Apr 2023
DOI: 10.6084/m9.figshare.c.6619121
Dataset
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Additional file 1 of The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study
Davidson, A. L. (Creator), Dressel, U. (Creator), Norris, S. (Creator), Canson, D. M. (Creator), Glubb, D. M. (Creator), Fortuno, C. (Creator), Hollway, G. E. (Creator), Parsons, M. T. (Creator), Vidgen, M. E. (Creator), Holmes, O. (Creator), Koufariotis, L. T. (Creator), Lakis, V. (Creator), Leonard, C. (Creator), Wood, S. (Creator), Xu, Q. (Creator), McCart Reed, A. E. (Creator), Pickett, H. A. (Creator), Al-Shinnag, M. K. (Creator), Austin, R. L. (Creator), Burke, J. (Creator), Cops, E. J. (Creator), Nichols, C. B. (Creator), Goodwin, A. (Creator), Harris, M. T. (Creator), Higgins, M. J. (Creator), Ip, E. L. (Creator), Kiraly-Borri, C. (Creator), Lau, C. (Creator), Mansour, J. L. (Creator), Millward, M. W. (Creator), Monnik, M. J. (Creator), Pachter, N. S. (Creator), Ragunathan, A. (Creator), Susman, R. D. (Creator), Townshend, S. L. (Creator), Trainer, A. H. (Creator), Troth, S. L. (Creator), Tucker, K. M. (Creator), Wallis, M. J. (Creator), Walsh, M. (Creator), Williams, R. A. (Creator), Winship, I. M. (Creator), Newell, F. (Creator), Tudini, E. (Creator), Pearson, J. V. (Creator), Poplawski, N. K. (Creator), Mar Fan, H. G. (Creator), James, P. A. (Creator), Spurdle, A. B. (Creator), Waddell, N. (Creator) & Ward, R. L. (Creator), Figshare, 19 Sept 2023
DOI: 10.6084/m9.figshare.24159315.v1, https://springernature.figshare.com/articles/dataset/Additional_file_1_of_The_clinical_utility_and_costs_of_whole-genome_sequencing_to_detect_cancer_susceptibility_variants_a_multi-site_prospective_cohort_study/24159315/1
Dataset
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Additional file 1 of The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study
Davidson, A. L. (Creator), Dressel, U. (Creator), Norris, S. (Creator), Canson, D. M. (Creator), Glubb, D. M. (Creator), Fortuno, C. (Creator), Hollway, G. E. (Creator), Parsons, M. T. (Creator), Vidgen, M. E. (Creator), Holmes, O. (Creator), Koufariotis, L. T. (Creator), Lakis, V. (Creator), Leonard, C. (Creator), Wood, S. (Creator), Xu, Q. (Creator), McCart Reed, A. E. (Creator), Pickett, H. A. (Creator), Al-Shinnag, M. K. (Creator), Austin, R. L. (Creator), Burke, J. (Creator), Cops, E. J. (Creator), Nichols, C. B. (Creator), Goodwin, A. (Creator), Harris, M. T. (Creator), Higgins, M. J. (Creator), Ip, E. L. (Creator), Kiraly-Borri, C. (Creator), Lau, C. (Creator), Mansour, J. L. (Creator), Millward, M. W. (Creator), Monnik, M. J. (Creator), Pachter, N. S. (Creator), Ragunathan, A. (Creator), Susman, R. D. (Creator), Townshend, S. L. (Creator), Trainer, A. H. (Creator), Troth, S. L. (Creator), Tucker, K. M. (Creator), Wallis, M. J. (Creator), Walsh, M. (Creator), Williams, R. A. (Creator), Winship, I. M. (Creator), Newell, F. (Creator), Tudini, E. (Creator), Pearson, J. V. (Creator), Poplawski, N. K. (Creator), Mar Fan, H. G. (Creator), James, P. A. (Creator), Spurdle, A. B. (Creator), Waddell, N. (Creator) & Ward, R. L. (Creator), Figshare, 2023
DOI: 10.6084/m9.figshare.24159315, https://springernature.figshare.com/articles/dataset/Additional_file_1_of_The_clinical_utility_and_costs_of_whole-genome_sequencing_to_detect_cancer_susceptibility_variants_a_multi-site_prospective_cohort_study/24159315
Dataset
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The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants—a multi-site prospective cohort study
Davidson, A. L. (Contributor), Dressel, U. (Contributor), Norris, S. (Contributor), Canson, D. M. (Contributor), Glubb, D. M. (Contributor), Fortuno, C. (Contributor), Hollway, G. E. (Contributor), Parsons, M. T. (Contributor), Vidgen, M. E. (Contributor), Holmes, O. (Contributor), Koufariotis, L. T. (Contributor), Lakis, V. (Contributor), Leonard, C. (Contributor), Wood, S. (Contributor), Xu, Q. (Contributor), McCart Reed, A. E. (Contributor), Pickett, H. A. (Contributor), Al-Shinnag, M. K. (Contributor), Austin, R. L. (Contributor), Burke, J. (Contributor), Cops, E. J. (Contributor), Nichols, C. B. (Contributor), Goodwin, A. (Contributor), Harris, M. T. (Contributor), Higgins, M. J. (Contributor), Ip, E. L. (Contributor), Kiraly-Borri, C. (Contributor), Lau, C. (Contributor), Mansour, J. L. (Contributor), Millward, M. W. (Contributor), Monnik, M. J. (Contributor), Pachter, N. S. (Contributor), Ragunathan, A. (Contributor), Susman, R. D. (Contributor), Townshend, S. L. (Contributor), Trainer, A. H. (Contributor), Troth, S. L. (Contributor), Tucker, K. M. (Contributor), Wallis, M. J. (Contributor), Walsh, M. (Contributor), Williams, R. A. (Contributor), Winship, I. M. (Contributor), Newell, F. (Contributor), Tudini, E. (Contributor), Pearson, J. V. (Contributor), Poplawski, N. K. (Contributor), Mar Fan, H. G. (Contributor), James, P. A. (Contributor), Spurdle, A. B. (Contributor), Waddell, N. (Contributor) & Ward, R. L. (Contributor), Figshare, 19 Sept 2023
DOI: 10.6084/m9.figshare.c.6841086
Dataset
Projects
- 1 Finished
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Genome-wide methylation profiling in infants with and without congenital heart defects
Pachter, N. (Investigator 01), Goldblatt, J. (Investigator 02) & Zhang, B. (Investigator 03)
1/01/15 → 31/12/16
Project: Research