Publication & Citation Trends
Publications
0 total
WCN26-5091 Title: A novel SALL1 variant in Townes-Brocks syndrome associated with adult-onset renal failure
Cited by 0
Semantic Scholar
Titin-related familial dilated cardiomyopathy: factors associated with disease onset
Cited by 4
Semantic Scholar
BRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
Cited by 0
Semantic Scholar
Longitudinal study in autosomal recessive PROM1 inherited retinal disease
Cited by 0
Semantic Scholar
Analysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes
Cited by 0
Semantic Scholar
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship OA
Cited by 5
Semantic Scholar
The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death OA
Cited by 8
Semantic Scholar
EP11.01: Cerebro‐costo‐mandibular syndrome: early diagnosis and termination of pregnancy OA
Cited by 0
Semantic Scholar
Research Topics
Cardiomyopathy and Myosin Studies
(7)
RNA modifications and cancer
(5)
Genomics and Rare Diseases
(5)
Prenatal Screening and Diagnostics
(4)
Genetics and Neurodevelopmental Disorders
(4)
Affiliations
University of Washington
Liverpool Hospital
Sydney Local Health District
Washington Center
South Western Sydney Local Health District