Sharron Townshend
King Edward Memorial Hospital(AU)
Publications by Year
Research Areas
BRCA gene mutations in cancer, Genomics and Rare Diseases, Connective tissue disorders research, Genetic factors in colorectal cancer, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome(2013)116 cited
- → Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B(2003)104 cited
- → Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study(2010)98 cited
- → Development in children with achondroplasia: a prospective clinical cohort study(2012)71 cited
- → Functional performance in young Australian children with achondroplasia(2011)70 cited
- → Developmental Milestones in Infants and Young Australasian Children With Achondroplasia(2010)49 cited
- → New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome(2019)43 cited
- → Initiating an undiagnosed diseases program in the Western Australian public health system(2017)42 cited
- → Ovarian Sex Cord-Stromal Tumors in Patients With Probable or Confirmed Germline DICER1 Mutations(2015)39 cited
- → Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition(2022)33 cited