Nicholas Pachter
The University of Western Australia(AU)King Edward Memorial Hospital(AU)Services Australia(AU)
Publications by Year
Research Areas
BRCA gene mutations in cancer, Genetic factors in colorectal cancer, Genomics and Rare Diseases, Cancer Genomics and Diagnostics, Prenatal Screening and Diagnostics
Most-Cited Works
- → Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort(2016)389 cited
- → Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection(2018)291 cited
- → Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers(2019)234 cited
- → Renal Tumors Associated With Germline SDHB Mutation Show Distinctive Morphology(2011)188 cited
- → Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)(2020)109 cited
- → Renal Tumors and Hereditary Pheochromocytoma-Paraganglioma Syndrome Type 4(2011)107 cited