David J. Amor
The University of Melbourne(AU)Murdoch Children's Research Institute(AU)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Prenatal Screening and Diagnostics, Autism Spectrum Disorder Research
Most-Cited Works
- → Mutations in smooth muscle α-actin (ACTA2) lead to thoracic aortic aneurysms and dissections(2007)838 cited
- → Beckwith-Wiedemann Syndrome and IVF: A Case-Control Study(2004)427 cited
- → A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders(2016)405 cited
- → Neocentromeres: Role in Human Disease, Evolution, and Centromere Study(2002)344 cited
- → Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions(2017)322 cited
- → A review of known imprinting syndromes and their association with assisted reproduction technologies(2008)310 cited
- → Human centromere repositioning “in progress”