Prof. David Amor
Galli Chair In Developmental Medicine
Paediatrics Royal Children's Hospital
280 Scholarly works
5 Projects
HIGHLIGHTS
2021
Journal article
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
DOI: 10.1016/j.ajhg.2021.01.0152021
Journal article
Child health after preimplantation genetic testing
DOI: 10.1016/j.rbmo.2020.11.0142021
Journal article
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
DOI: 10.1016/j.medj.2020.06.0042021
Journal article
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy (vol 52, pg 1046, 2020)
DOI: 10.1038/s41588-021-00780-82020
Research Contracts
The impact of COVID-19 on service provision for children and young people following major traumatic injury: A longitudinal, qualitative study
2017
Research Contracts
SALARY CONTRIBUTION FOR DR. TAMARA MAY - 17/18
2014
Research Grant
IDENTIFICATION OF MEN WITH A GENETIC PREDISPOSITION TO PROSTATE CANCER: TARGETED SCREENING IN MEN AT HIGHER GENETIC RISK AND CONTROLS – THE IMPACT STUDY
RECENT SCHOLARLY WORKS
2020
Journal article
Exome Sequencing for Isolated Congenital Hearing Loss: A Cost-Effectiveness Analysis
DOI: 10.1002/lary.293562020
Journal article
Speech and language phenotype in Phelan-McDermid (22q13.3) syndrome
DOI: 10.1038/s41431-020-00761-12020
Conference Proceedings
Recurrent de novo ATAD3 duplications cause fatal perinatal mitochondrial cardiomyopathy, persistent hyperlactacidemia, encephalopathy and heart-specific mitochondrial oxidative phosphorylation complex I deficiency.
2020
Journal article
First-trimester maternal serum biomarkers and the risk of cerebral palsy
DOI: 10.1111/dmcn.147322020
Journal article
Exome sequencing in infants with congenital hearing impairment: a population-based cohort study (vol 28, pg 587, 2020)
DOI: 10.1038/s41431-020-00750-42020
Journal article
Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
DOI: 10.1016/j.ajhg.2020.09.0012020
Journal article
Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis
DOI: 10.1111/ajo.132642020
Journal article
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
DOI: 10.1097/01.ogx.0000722040.32795.04