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List of works by David J Amor

"I'm Healthy, It's Not Going To Be Me": Exploring experiences of carriers identified through a population reproductive genetic carrier screening panel in Australia

scientific article published on 6 May 2016

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

scientific article

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

scientific article published on 7 December 2017

A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33

scientific article (publication date: 27 August 2010)

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 protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort

scientific article published on 14 September 2017

A qualitative exploration of mothers' and fathers' experiences of having a child with Klinefelter syndrome and the process of reaching this diagnosis.

scientific article

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

scientific article

ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.

scientific article published on 22 April 2016

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

scientific article published on 8 April 2010

Alcohol consumption in a general antenatal population and child neurodevelopment at 2 years.

scientific article published on 24 August 2017

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

scientific article published on February 8, 2012

Anaplastic oligodendroglioma in an adolescent with Lynch syndrome.

scientific article published on 19 December 2012

Attitudes of sperm, egg and embryo donors and recipients towards genetic information and screening of donors

scientific article published on 9 February 2018

Authors' response to: Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data: does increased diagnostic power outweigh the dilemma of rare variants.

scientific article published in September 2013

Autosomal dominant inheritance of scapuloiliac dysostosis

scientific article published on 01 December 2000

Availability of treatment drives decisions of genetic health professionals about disclosure of incidental findings

scientific article

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

scientific article

Characterization of speech and language phenotype in children with NRXN1 deletions

scientific article published on 25 October 2018

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

scientific article published on 19 November 2019

Clinical comparison of overlapping deletions of 19p13.3.

scientific article published on 01 May 2013

Clinical review of 24-35 year olds conceived with and without in vitro fertilization: study protocol.

scientific article published on 20 September 2017

Clinical utility gene card for: 16p12.2 microdeletion

scientific article published on 16 November 2016

Comparing indicators of health and development of singleton young adults conceived with and without assisted reproductive technology.

scientific article published on 19 February 2014

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

scientific article published on 16 July 2015

Considerations for reporting genome results to patients

scientific article published on 01 January 2013

DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism

scientific article

DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome

scientific article published on 19 October 2020

De novo 325 kb microdeletion in chromosome band 10q25.3 including ATRNL1 in a boy with cognitive impairment, autism and dysmorphic features

scientific article published on 27 July 2010

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

scientific article (publication date: 2004)

Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion

scientific article published on 14 February 2018

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

scientific article published in August 2006

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

Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis

scientific article published on July 2015

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

Early speech development in Koolen de Vries syndrome limited by oral praxis and hypotonia

scientific article published on 11 December 2017

Encephalocraniocutaneous lipomatosis (Fishman syndrome): a rare neurocutaneous syndrome

scientific article published on 01 December 2000

Epigenetics of fragile X syndrome and fragile X-related disorders

scientific article published on 07 August 2018

Epigenome-wide analysis in newborn blood spots from monozygotic twins discordant for cerebral palsy reveals consistent regional differences in DNA methylation.

scientific article published on 23 February 2018

Exome sequencing in infants with congenital hearing impairment: a population-based cohort study

scientific article published on 12 December 2019

Exome sequencing in newborns with congenital deafness as a model for genomic newborn screening: the Baby Beyond Hearing project

scientific article published on 24 January 2020

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

scientific article

Exploring autism symptoms in an Australian cohort of patients with Prader-Willi and Angelman syndromes

article

Exploring the speech and language of individuals with non-syndromic submucous cleft palate: a preliminary report

scientific article published on 02 May 2019

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

FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.

scientific article published on 29 March 2018

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

scientific article

Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis

scientific article published on 02 November 2020

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

Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome

scientific article published in February 2009

Fatal perinatal mitochondrial cardiac failure caused by recurrent <i>de novo</i> duplications in the <i>ATAD3</i> locus

scientific article published on 09 July 2020

Fertility in Turner syndrome

scientific article published on 04 September 2013

First-trimester maternal serum biomarkers and the risk of cerebral palsy

scientific article published on 18 November 2020

Fragile Females: Case Series of Epilepsy in Girls With FMR1 Disruption

scientific article published on 22 August 2019

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

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

Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study

scientific article

Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

scientific article published on 01 August 2018

Functional disomy of proximal Xp causes a distinct phenotype comprising early hypotonia, hypertelorism, small hands and feet, ear abnormalities, myopia and cognitive impairment.

scientific article published in August 2009

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

scientific article (publication date: February 2012)

Future of whole genome sequencing.

scientific article published on 3 June 2014

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

Genetic factors in athetoid cerebral palsy

scientific article

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

scientific article published on 30 August 2018

Genome-wide association study identifies novel breast cancer susceptibility loci

scientific article published on 28 June 2007

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

scientific article published in 2022

Genomic imprinting, small babies and assisted reproduction.

scientific article published on 22 October 2008

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

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

scientific article

Growth Trajectories in Genetic Subtypes of Prader-Willi Syndrome

scientific article published on 02 July 2020

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

scientific article published in June 2004

Health and development of ART conceived young adults: a study protocol for the follow-up of a cohort.

scientific article published on 15 March 2013

Health and developmental outcome of children following prenatal diagnosis of confined placental mosaicism.

scientific article published in May 2006

Health and fertility of ICSI-conceived young men: study protocol

scientific article published on 03 October 2020

Health outcomes of school-aged children conceived using donor sperm.

scientific article published on 6 July 2017

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

scientific article published on 15 April 2015

High frequency of t(12;21) in childhood acute lymphoblastic leukemia detected by RT-PCR

scientific article published on 01 November 1998

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

scientific article

Human centromere repositioning "in progress"

scientific article

IREB2-associated neurodegeneration

scientific article published on 01 August 2019

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

scientific article

Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis

scientific article published on 29 December 2015

Identification of a Novel RNF213 Variant in a Family with Heterogeneous Intracerebral Vasculopathy

scientific article published on 01 August 2014

Implementation of written consent for newborn screening in Victoria, Australia.

scientific article published on 23 December 2013

Increased genetic counseling support improves communication of genetic information in families

scientific article published on 01 March 2008

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

Intermediate form of ablepharon-macrostomia syndrome with CNS abnormalities.

scientific article published in October 2001

Investigating the child with intellectual disability

scientific article published on 01 October 2018

Juvenile papillomatosis of the breast associated with neurofibromatosis 1

scientific article published on 01 September 2007

Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28.

scientific article

Lambdoid synostosis and craniofacial dysmorphism with normal intellect: A novel syndrome?

scientific article published on 01 January 2011

Letter regarding the article "Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals ()" and the diagnosis of coexisting Mowat-Wilson syndrome in a patient wit

scientific article published on 9 October 2017

Long-term health and development of children diagnosed prenatally with a de novo apparently balanced chromosomal rearrangement

scientific article published on 17 May 2013

Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome

scientific journal article

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

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

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

scientific article published on 27 October 2016

Methylation analysis in newborn screening for fragile X syndrome

scientific article published on 01 June 2014

Methylation analysis of fragile X-related epigenetic elements may provide a suitable newborn screening test for fragile X syndrome.

scientific article published on September 2010

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

scientific article

Morbid obesity and hyperphagia in the WAGR syndrome

scientific article published on 01 January 2002

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

scientific article published on March 2016

Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3.

scientific article published on 01 March 2005

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

scientific article

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

scientific article

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

scientific article

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

scientific article published on 9 October 2013

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

scientific article

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

scientific article published on 2 October 2011

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

scientific article

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

scientific article

Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14.

scientific article published on 7 November 2017

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

scientific article

New case of Cole-Carpenter syndrome.

scientific article

New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness

scientific article

Non-Invasive Prenatal Testing for “Non-Medical” Traits: Ensuring Consistency in Ethical Decision-Making

scientific article published in 2021

Obesity, hypothyroidism, craniosynostosis, cardiac hypertrophy, colitis, and developmental delay: a novel syndrome.

scientific article published in January 2007

Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study

scientific article published on 6 February 2018

PGD gender selection for non-Mendelian disorders with unequal sex incidence.

scientific article published on 24 January 2008

Pallister-Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p.

scientific article published in March 2009

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

scientific article

Phenotypic variability of distal 22q11.2 copy number abnormalities

article

Polygenic risk score for embryo selection—not ready for prime time

scientific article published in 2022

Population-based genetic carrier screening for cystic fibrosis in Victoria

scientific article published on 01 March 2014

Preferences for results from genomic microarrays: comparing parents and health care providers.

scientific article published on 29 April 2014

Prenatal cortical hyperostosis (Caffey disease)

scientific article published on 01 September 2002

Prenatally detected de novo apparently balanced chromosomal rearrangements: the effect on maternal worry, family functioning and intent of disclosure

scientific article published on 25 April 2014

Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype

scientific article published on 11 January 2016

Pseudotrisomy 13 syndrome in siblings

scientific article published on 01 April 2000

Questionable pathogenicity of FOXG1 duplication.

scientific article published on 18 January 2012

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

scientific article published on 10 October 2013

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

scientific article published on 7 September 2018

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

scientific article published on 30 April 2019

Recurrence risk in Autism Spectrum Disorder: a study of parental knowledge.

scientific article

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

scientific article published on 14 September 2011

Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders

scientific article published on 29 October 2020

Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and pubert

scientific article

Reproductive function in men conceived with in vitro fertilization and intracytoplasmic sperm injection

scientific article published in April 2022

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

Situs inversus totalis and congenital hypoglossia

scientific article (publication date: 2001)

Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p

scientific article published on 01 August 2008

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

scientific article

The Genetic Landscape of Diamond-Blackfan Anemia

scientific article published on 29 November 2018

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor

scientific article published on 22 December 2017

Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: a new syndrome?

scientific article published on 01 September 2007

Uptake of carrier testing in families after cystic fibrosis diagnosis through newborn screening

scientific article

Uptake of prenatal diagnostic testing and the effectiveness of prenatal screening for Down syndrome

scientific article published in June 2010

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

scientific article

Variants in ACTG2 underlie a substantial number of Australasian patients with primary chronic intestinal pseudo-obstruction

scientific article published on 21 May 2018

YPEL1 overexpression in early avian craniofacial mesenchyme causes mandibular dysmorphogenesis by up-regulating apoptosis.

scientific article

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