David J. Amor
A5079377834- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Autism Spectrum Disorder Research
- Epigenetics and DNA Methylation
- Congenital heart defects research
- BRCA gene mutations in cancer
- Assisted Reproductive Technology and Twin Pregnancy
- Genetic Syndromes and Imprinting
- Metabolism and Genetic Disorders
- Chromosomal and Genetic Variations
- Language Development and Disorders
- Connective tissue disorders research
- Cancer Genomics and Diagnostics
- Reproductive Health and Technologies
- RNA modifications and cancer
- Cystic Fibrosis Research Advances
- Family and Disability Support Research
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Mitochondrial Function and Pathology
- Neonatal Respiratory Health Research
- Genomics and Chromatin Dynamics
- Fetal and Pediatric Neurological Disorders
- Cardiomyopathy and Myosin Studies
The University of Melbourne
2016-2025
Murdoch Children's Research Institute
2016-2025
Royal Children's Hospital
2015-2024
University of Wisconsin–Madison
2024
Hanover College
2024
Victorian Clinical Genetics Services
2014-2023
Google (United States)
2023
The Netherlands Cancer Institute
2023
Radboud University Nijmegen
2022
Radboud University Medical Center
2022
Optimal use of whole-exome sequencing (WES) in the pediatric setting requires an understanding who should be considered for testing and when it performed to maximize clinical utility cost-effectiveness.
Capillary malformation–arteriovenous malformation (CM–AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs high risk for fast-flow lesions. A limited number of patients have been reported, raising the question phenotypic borders. We identified new with a clinical diagnosis CM–AVM, overlapping phenotypes. was screened in 261 index with: CM–AVM (n = 100), common CM(s) (port-wine stain; n Sturge–Weber syndrome 37), or isolated AVM(s)...
Most arteriovenous malformations (AVMs) are localized and occur sporadically. However, they also can be multifocal in autosomal-dominant disorders, such as hereditary hemorrhagic telangiectasia capillary malformation (CM)-AVM. Previously, we identified RASA1 mutations 50% of patients with CM-AVM. Herein studied non-RASA1 to further elucidate the pathogenicity CMs AVMs.We conducted a genome-wide linkage study on CM-AVM family. Whole-exome sequencing was performed 9 unrelated families. We...
The cytotoxicity of DNA-protein crosslinks (DPCs) is largely ascribed to their ability block the progression DNA replication. DPCs frequently occur in cells, either as a consequence metabolism or exogenous agents, but mechanism DPC repair not completely understood. Here, we characterize SPRTN specialized DNA-dependent and replication-coupled metalloprotease for repair. cleaves various binding substrates during S-phase thus protects proliferative cells from toxicity. Ruijs-Aalfs syndrome...
Men with germline breast cancer 1, early onset (BRCA1) or 2, (BRCA2) gene mutations have a higher risk of developing prostate (PCa) than noncarriers. IMPACT (Identification genetic predisposition to ProstAte Cancer: Targeted screening in BRCA1/2 mutation carriers and controls) is an international consortium 62 centres 20 countries evaluating the use targeted PCa men mutations.
Genomic technologies such as next-generation sequencing (NGS) are revolutionizing molecular diagnostics and clinical medicine. However, these approaches have proven inefficient at identifying pathogenic repeat expansions. Here, we apply a collection of bioinformatics tools that can be utilized to identify either known or novel expanded sequences in NGS data. We performed genetic studies cohort 35 individuals from 22 families with diagnosis cerebellar ataxia neuropathy bilateral vestibular...
<h3>Importance</h3> Widespread adoption of rapid genomic testing in pediatric critical care requires robust clinical and laboratory pathways that provide equitable consistent service across health systems. <h3>Objective</h3> To prospectively evaluate the performance a multicenter network for ultra-rapid diagnosis public system. <h3>Design, Setting, Participants</h3> Descriptive feasibility study critically ill patients with suspected monogenic conditions treated at 12 Australian hospitals...
PurposeTo assess the contribution of rare variants in genetic background toward variability neurodevelopmental phenotypes individuals with copy-number (CNVs) and gene-disruptive variants.MethodsWe analyzed quantitative clinical information, exome sequencing, microarray data from 757 probands 233 parents siblings who carry disease-associated variants.ResultsThe number likely deleterious functionally intolerant genes (“other hits”) correlated expression 16p12.1 deletion (n=23, p=0.004) autism...
Overlapping clinical phenotypes and an expanding breadth complexity of genomic associations are a growing challenge in the diagnosis management Mendelian disorders. The functional consequences impacts variation may involve unique, disorder-specific, DNA methylation episignatures. In this study, we describe 19 novel episignature disorders compare findings alongside 38 previously established episignatures for total 57 associated with 65 genetic syndromes. We demonstrate increasing resolution...
Centromere repositioning provides a potentially powerful evolutionary force for reproductive isolation and speciation, but the underlying mechanisms remain ill-defined. An attractive model is through simultaneous inactivation of normal centromere formation new at hitherto noncentromeric chromosomal location with minimal detrimental effect. We report two-generation family in which centromeric activity one chromosome 4 has been relocated to euchromatic site 4q21.3 epigenetic neocentromere...
<h3>Background</h3> Chromosome 17p13.3 contains extensive repetitive sequences and is a recognised region of genomic instability. Haploinsufficiency <i>PAFAH1B1</i> (encoding LIS1) causes either isolated lissencephaly sequence or Miller–Dieker syndrome, depending on the size deletion. More recently, both microdeletions microduplications mapping to syndrome telomeric critical have been identified associated with distinct but overlapping phenotypes. <h3>Methods</h3> Genome-wide microarray...