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Lista de obras de 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.

artículo científico publicado en 2016

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

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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.

artículo científico publicado en 2016

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Anaplastic oligodendroglioma in an adolescent with Lynch syndrome.

artículo científico publicado en 2012

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2004

Characterization of speech and language phenotype in children with NRXN1 deletions

artículo científico publicado en 2018

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

artículo científico publicado en 2019

Clinical comparison of overlapping deletions of 19p13.3.

artículo científico publicado en 2013

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

artículo científico publicado en 2017

Clinical utility gene card for: 16p12.2 microdeletion

artículo científico publicado en 2016

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

artículo científico

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

artículo científico publicado en 2015

Considerations for reporting genome results to patients

artículo científico publicado en 2013

DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism

artículo científico publicado en 2005

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

artículo científico publicado en 2020

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

artículo científico publicado en 2010

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

artículo científico publicado en 2004

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

artículo científico publicado en 2018

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

artículo científico publicado en 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.

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

Dominant missense mutations in ABCC9 cause Cantú syndrome.

artículo científico publicado en 2012

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2019

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

artículo científico publicado en 2009

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

artículo científico publicado en 2018

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

artículo científico publicado en 2011

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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2020

Fertility in Turner syndrome

artículo científico

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

artículo científico publicado en 2020

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

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2018

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

artículo científico publicado en 2009

Further clinical and molecular delineation of the 15q24 microdeletion syndrome

artículo científico publicado en 2012

Future of whole genome sequencing.

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Genetic factors in athetoid cerebral palsy

artículo científico publicado en 2001

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

artículo científico publicado en 2007

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

artículo científico publicado en 2022

Genomic imprinting, small babies and assisted reproduction.

artículo científico publicado en 2008

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

artículo científico

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

artículo científico publicado en 2017

Growth Trajectories in Genetic Subtypes of Prader-Willi Syndrome

artículo científico publicado en 2020

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

artículo científico publicado en 2004

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

artículo científico publicado en 2013

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2015

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

artículo científico publicado en 1998

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

artículo científico publicado en 2011

Human centromere repositioning "in progress"

artículo científico publicado en 2004

IREB2-associated neurodegeneration

scientific article published on 01 August 2019

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

artículo científico publicado en 2008

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2013

Increased genetic counseling support improves communication of genetic information in families

artículo científico publicado en 2008

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

artículo científico publicado en 2009

Intermediate form of ablepharon-macrostomia syndrome with CNS abnormalities.

artículo científico publicado en 2001

Investigating the child with intellectual disability

artículo científico publicado en 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.

artículo científico publicado en 2007

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2014

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?

artículo científico publicado en 2013

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

artículo científico publicado en 2016

Methylation analysis in newborn screening for fragile X syndrome

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

artículo científico publicado en 2010

Morbid obesity and hyperphagia in the WAGR syndrome

artículo científico publicado en 2002

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome

artículo científico publicado en 2013

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

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

artículo científico publicado en 2002

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

artículo científico publicado en 2017

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

artículo científico publicado en 2013

New case of Cole-Carpenter syndrome.

artículo científico publicado en 2000

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

artículo científico publicado en 2001

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

artículo científico publicado en 2021

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

artículo científico publicado en 2007

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

artículo científico publicado en 2018

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2011

Phenotypic variability of distal 22q11.2 copy number abnormalities

article

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

artículo científico publicado en 2022

Population-based genetic carrier screening for cystic fibrosis in Victoria

artículo científico publicado en 2014

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

artículo científico publicado en 2014

Prenatal cortical hyperostosis (Caffey disease)

artículo científico publicado en 2002

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

artículo científico publicado en 2014

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

artículo científico publicado en 2016

Pseudotrisomy 13 syndrome in siblings

artículo científico publicado en 2000

Questionable pathogenicity of FOXG1 duplication.

artículo científico publicado en 2012

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

artículo científico publicado en 2013

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

artículo científico publicado en 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.

artículo científico publicado en 2007

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

artículo científico publicado en 2011

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

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2022

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

artículo científico publicado en 2017

Situs inversus totalis and congenital hypoglossia

artículo científico publicado en 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

artículo científico publicado en 2014

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.

artículo científico publicado en 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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2018

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

artículo científico publicado en 2015

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