List of works - David J Amor

Genome-wide association study identifies novel breast cancer susceptibility loci

scientific article published on 28 June 2007

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

scientific article

Beckwith-Wiedemann syndrome and IVF: a case-control study

scientific article

Neocentromeres: role in human disease, evolution, and centromere study

scientific article

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

scientific article published on 21 March 2009

Human centromere repositioning "in progress"

scientific article

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

scientific article published on 3 March 2016

A review of known imprinting syndromes and their association with assisted reproduction technologies.

scientific article

Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study

scientific article

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

scientific article

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

scientific article

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

scientific article (publication date: 2004)

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.

scientific article

Dominant missense mutations in ABCC9 cause Cantú syndrome.

scientific article

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology

scientific article

Mutations in TRPV4 cause an inherited arthropathy of hands and feet.

scientific article published on 2 October 2011

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation

scientific article published on 10 October 2013

Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair

scientific article published on 27 October 2016

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

scientific article

DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism

scientific article

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta

scientific article

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes

scientific article published on 14 September 2011

Adverse obstetric and perinatal outcomes in subfertile women conceiving without assisted reproductive technologies.

scientific article published on 8 April 2010

Increased genetic counseling support improves communication of genetic information in families

scientific article published on 01 March 2008

Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies

scientific article published in August 2006

Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene.

scientific article published on 28 April 2011

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

scientific article

Increased risk of blastogenesis birth defects, arising in the first 4 weeks of pregnancy, after assisted reproductive technologies.

scientific article published on 22 October 2009

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

scientific article

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

scientific article published on 18 August 2015

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

scientific article published on 12 March 2015

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

scientific article

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

scientific article published on 7 September 2018

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

scientific article

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

scientific article

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.

scientific article published in June 2004

An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice

scientific article published on February 8, 2012

Phenotypic variability of distal 22q11.2 copy number abnormalities

article

FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles

scientific article

The Genetic Landscape of Diamond-Blackfan Anemia

scientific article published on 29 November 2018

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.

scientific article published on 26 October 2017

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.

scientific article

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

scientific article published on 10 March 2017

Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?

scientific article

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

scientific article

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

scientific article published on 15 April 2015

Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study.

scientific article published on 10 January 2012

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.

scientific article

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

scientific article published on 11 October 2013

Using population-based data to predict the impact of introducing noninvasive prenatal diagnosis for Down syndrome.

scientific article

List of works by David J Amor

Genome-wide association study identifies novel breast cancer susceptibility loci

Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.

Beckwith-Wiedemann syndrome and IVF: a case-control study

Neocentromeres: role in human disease, evolution, and centromere study

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.

Human centromere repositioning "in progress"

A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders

A review of known imprinting syndromes and their association with assisted reproduction technologies.

Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study

Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.

Dominant missense mutations in ABCC9 cause Cantú syndrome.

Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology

Mutations in TRPV4 cause an inherited arthropathy of hands and feet.

RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation

Metalloprotease SPRTN/DVC1 Orchestrates Replication-Coupled DNA-Protein Crosslink Repair

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes

Adverse obstetric and perinatal outcomes in subfertile women conceiving without assisted reproductive technologies.

Increased genetic counseling support improves communication of genetic information in families

Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies

Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Increased risk of blastogenesis birth defects, arising in the first 4 weeks of pregnancy, after assisted reproductive technologies.

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.

Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome.

An exploration of genetic health professionals' experience with direct-to-consumer genetic testing in their clinical practice

Phenotypic variability of distal 22q11.2 copy number abnormalities

FMR1 intron 1 methylation predicts FMRP expression in blood of female carriers of expanded FMR1 alleles

The Genetic Landscape of Diamond-Blackfan Anemia

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update

Hemispheric cortical dysplasia secondary to a mosaic somatic mutation in MTOR.

Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study.

Identification of 34 novel and 56 known FOXL2 mutations in patients with Blepharophimosis syndrome.

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

Using population-based data to predict the impact of introducing noninvasive prenatal diagnosis for Down syndrome.