David J. Amor
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View article: DDX3X syndrome: a multicenter genotype-phenotype study
DDX3X syndrome: a multicenter genotype-phenotype study Open
DDX3X dysfunction causes an X-linked multisystem disorder with high penetrance and variable expressivity. The phenotypic spectrum spans from learning disability without somatic involvement to profound intellectual disability with severe im…
View article: Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study
Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study Open
Incorporating genomic sequencing into newborn screening will dramatically increase the number of detectable conditions but evidence is needed to guide policy. The prospective BabyScreen+ cohort study screened 1,000 newborns from the state …
View article: Array of Testing Characterizes Prenatal Diagnosis of Mosaic Tetrasomy 9p24q22.3 Associated With an Unusually Mild Phenotype and Favourable Outcome
Array of Testing Characterizes Prenatal Diagnosis of Mosaic Tetrasomy 9p24q22.3 Associated With an Unusually Mild Phenotype and Favourable Outcome Open
Background Tetrasomy 9p is a rare chromosomal disorder with distinct clinical features, but wide phenotypic variability. Historically, tetrasomy 9p has been detected by conventional cytogenetic analysis, but newer technologies such as non‐…
View article: PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia
PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia Open
Polypyrimidine tract-binding protein 1 (PTBP1) is a heterogeneous nuclear ribonucleoprotein primarily known for its alternative splicing activity. It shuttles between the nucleus and cytoplasm via partially overlapping N-terminal nuclear l…
View article: High-throughput assessment of <i>FMR1</i> and <i>SNRPN</i> methylation-based newborn screening using IsoPure and QIAcube HT systems
High-throughput assessment of <i>FMR1</i> and <i>SNRPN</i> methylation-based newborn screening using IsoPure and QIAcube HT systems Open
The IsoPure system showed superior performance especially on archival samples, with broader applications for screening and diagnostic testing requiring high-throughput mDNA analyses on materials of limited quantity and quality.
View article: Speech and Language Disorders Associated With 7q31 Deletions Implicating <scp> <i>FOXP2</i> </scp>
Speech and Language Disorders Associated With 7q31 Deletions Implicating <span> <i>FOXP2</i> </span> Open
Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2 ‐related speech and language disorder, which has been well characterized in the literature. Co…
View article: An integrated framework for functional dissection of variable expressivity in genetic disorders
An integrated framework for functional dissection of variable expressivity in genetic disorders Open
Disease-associated variants can lead to variable phenotypic outcomes, but the biological mechanisms underlying this variability remain poorly understood. We developed a framework to investigate this phenomenon using the 16p12.1 deletion as…
View article: Childhood motor speech disorders: who to prioritise for genetic testing
Childhood motor speech disorders: who to prioritise for genetic testing Open
The aetiology of childhood motor speech disorders of dysarthria and apraxia has been poorly understood. Recent evidence suggests a moderate genetic contribution for these rare and severe speech disorders. To date however, no studies have e…
View article: Childhood outcomes of fetal genomic copy number variants: the prenatal microarray cohort study
Childhood outcomes of fetal genomic copy number variants: the prenatal microarray cohort study Open
Purpose The long-term developmental outcomes of children with a prenatal diagnosis of a copy number variant of uncertain significance (VUS) remain unclear. This study compared the developmental, social-emotional, and health outcomes of chi…
View article: Hexasomy of the 15q11q13 region: a detailed report and review of the literature
Hexasomy of the 15q11q13 region: a detailed report and review of the literature Open
Hexasomy of the Prader-Willi/Angelman Syndrome Critical Region (PWASCR; chromosome 15q11-q13) is very rare with only 13 patients being described to date. The region is known for its high susceptibility to genomic rearrangements, and extra …
View article: Genomic newborn screening: feasibility, acceptability and clinical outcomes
Genomic newborn screening: feasibility, acceptability and clinical outcomes Open
Incorporating genomic sequencing into newborn screening (NBS) will dramatically increase the number of detectable conditions but evidence is needed to guide policy. The BabyScreen + study screened 1,000 newborns for variants in 605 genes a…
View article: Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.
Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort. Open
The expansion of genomics provides opportunity to screen individuals beyond clinical indication yet the classification of genomic variants and implications for health outcomes in this context is still emerging. We investigated this further…
View article: Research Themes in KAT6A Syndrome: A Scoping Review
Research Themes in KAT6A Syndrome: A Scoping Review Open
Pathogenic variants in the KAT6A gene cause KAT6A syndrome, a neurodevelopmental disorder characterised by intellectual disability (ID), developmental delay, speech and language challenges, feeding difficulties, and skeletal abnormalities.…
View article: Population-based, government-funded exome sequencing for fetal abnormalities: a state-wide implementation model for equity and clinical consistency
Population-based, government-funded exome sequencing for fetal abnormalities: a state-wide implementation model for equity and clinical consistency Open
Background: Congenital anomalies are a leading cause of perinatal mortality, with many having a genetic basis. Exome sequencing (ES) has transformed the diagnostic approach in the prenatal and post-mortem work-up of fetal congenital anomal…
View article: Adaptive functioning in children and young adults with monogenic neurodevelopmental disorders
Adaptive functioning in children and young adults with monogenic neurodevelopmental disorders Open
Aim To examine the adaptive behaviour profiles of children with monogenic neurodevelopmental disorders (NDDs) to determine whether syndrome‐specific or transdiagnostic approaches provide a better understanding of the adaptive behavioural p…
View article: Childhood outcomes of fetal genomic copy-number variants: The prenatal microarray cohort study
Childhood outcomes of fetal genomic copy-number variants: The prenatal microarray cohort study Open
View article: P608: Perspectives from an Asian population regarding reproductive carrier screening implementation
P608: Perspectives from an Asian population regarding reproductive carrier screening implementation Open
View article: Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder Open
View article: Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry Open
View article: Parents’ perspectives on conversations about prognosis and an assessment of prognostic information available online: A mixed-methods study
Parents’ perspectives on conversations about prognosis and an assessment of prognostic information available online: A mixed-methods study Open
Our data provide evidence of an over-emphasis of deficit-framed prognostic information about genetic neurodevelopmental conditions. The initial exposure to negative information may adversely affect parents' psychological well-being and exp…
View article: Hormonal Contraception and Breast Cancer Risk for Carriers of Germline Mutations in <i>BRCA1</i> and <i>BRCA2</i>
Hormonal Contraception and Breast Cancer Risk for Carriers of Germline Mutations in <i>BRCA1</i> and <i>BRCA2</i> Open
PURPOSE It is uncertain whether, and to what extent, hormonal contraceptives increase breast cancer (BC) risk for germline BRCA1 or BRCA2 mutation carriers. METHODS Using pooled observational data from four prospective cohort studies, asso…
View article: Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns
Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns Open
This study describes a protocol to assess a novel workflow called Epi-Genomic Newborn Screening (EpiGNs) on 100,000 infants from the state of Victoria, Australia. The workflow uses a first-tier screening approach called methylation-specifi…
View article: Genetic modifiers and ascertainment drive variable expressivity of complex disorders
Genetic modifiers and ascertainment drive variable expressivity of complex disorders Open
SUMMARY Variable expressivity of disease-associated variants implies a role for secondary variants that modify clinical features. We assessed the effects of modifier variants towards clinical outcomes of 2,252 individuals with primary vari…
View article: Pregnancy-Related Factors and Breast Cancer Risk for Women Across a Range of Familial Risk
Pregnancy-Related Factors and Breast Cancer Risk for Women Across a Range of Familial Risk Open
Importance Few studies have investigated whether the associations between pregnancy-related factors and breast cancer (BC) risk differ by underlying BC susceptibility. Evidence regarding variation in BC risk is critical to understanding BC…
View article: Perinatal outcomes after a prenatal diagnosis of a fetal copy number variant: a retrospective population-based cohort study
Perinatal outcomes after a prenatal diagnosis of a fetal copy number variant: a retrospective population-based cohort study Open
Background There are no established guidelines for the follow up of infants born after a prenatal diagnosis of a genomic copy number variant (CNV), despite their increased risk of developmental issues. The aims of this study were (i) to de…
View article: Inherited <i>PURA</i> Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder
Inherited <i>PURA</i> Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder Open
This is the first inherited PURA pathogenic germline variant in over 600 unrelated families documented on ClinVar or reported in the literature. PURA testing should be considered in families with primary speech disorder and b…
View article: Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset
Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset Open
View article: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry Open
Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis, dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and intranuclear inclusions on muscle biopsy. In recent years CGG • …
View article: Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants
Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants Open
View article: Intellectual disability: A potentially treatable condition
Intellectual disability: A potentially treatable condition Open
The application of genomics has greatly increased the diagnosis of specific monogenic causes of intellectual disability and improved our understanding of the neuronal processes that result in cognitive impairment. Meanwhile, families are b…