Genetics, Mutation, Missense mutation, Exome sequencing and Obstetrics are his primary areas of study. His Leigh disease study in the realm of Mutation interacts with subjects such as Arthropathy, TRPV4 and TRPV Cation Channels. The various areas that David J. Amor examines in his Missense mutation study include Loss function and Heteroplasmy, Mitochondrial DNA.
His Exome sequencing study combines topics from a wide range of disciplines, such as Genetic linkage, Linkage, Pediatrics and Massive parallel sequencing. Medical genetics is closely connected to Outpatient clinic in his research, which is encompassed under the umbrella topic of Pediatrics. The Obstetrics study combines topics in areas such as Odds ratio and Pregnancy.
David J. Amor focuses on Genetics, Pediatrics, Fragile X syndrome, Allele and Intellectual disability. His studies in Phenotype, Mutation, Gene, Missense mutation and Chromosome are all subfields of Genetics research. His research investigates the connection between Mutation and topics such as Pathology that intersect with problems in Prenatal diagnosis.
His work investigates the relationship between Pediatrics and topics such as Cohort study that intersect with problems in Young adult. David J. Amor has included themes like Autism, Newborn screening and FMR1 in his Fragile X syndrome study. In his research on the topic of Genetic testing, Medical genetics is strongly related with Genetic counseling.
His main research concerns Fragile X syndrome, Pediatrics, Genetics, Exome sequencing and Intellectual disability. His Fragile X syndrome research incorporates themes from Young adult, Autism and Allele, FMR1. His study looks at the intersection of Young adult and topics like Cohort study with Odds ratio.
His study involves Gene, Phenotype, Missense mutation, Neurodevelopmental disorder and Chromosomal translocation, a branch of Genetics. His research in Phenotype intersects with topics in Mutation, Chromosome and Genotype. His biological study spans a wide range of topics, including Genetic heterogeneity, Cohort and Medical genetics.
David J. Amor mainly investigates Autism, Allele, Fragile X syndrome, FMR1 and Genetics. Within one scientific family, David J. Amor focuses on topics pertaining to Intellectual disability under Autism, and may sometimes address concerns connected to Exome sequencing, Autism spectrum disorder, Genetic heterogeneity, Proband and Cohort. His study in the fields of Trinucleotide repeat expansion under the domain of Allele overlaps with other disciplines such as Innate immune system.
His study in Gene, Nonsense, Missense mutation, Neurodevelopmental disorder and Function is done as part of Genetics. His studies in Missense mutation integrate themes in fields like Opisthotonus, Spasticity and Developmental disorder. His research investigates the connection with Pregnancy and areas like Young adult which intersect with concerns in Pediatrics and Genetic counseling.
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Mutations in smooth muscle α-actin ( ACTA2 ) lead to thoracic aortic aneurysms and dissections
Dong Chuan Guo;Hariyadarshi Pannu;Van Tran-Fadulu;Christina L. Papke.
Nature Genetics (2007)
Beckwith-Wiedemann Syndrome and IVF: A Case-Control Study
Jane Halliday;Jane Halliday;Kay Oke;Sue Breheny;Elizabeth Algar;Elizabeth Algar.
American Journal of Human Genetics (2004)
Neocentromeres: role in human disease, evolution, and centromere study.
David J. Amor;K.H. Andy Choo.
American Journal of Human Genetics (2002)
Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals
E.K. Bijlsma;A.C.J. Gijsbers;J.H.M. Schuurs-Hoeijmakers;A. van Haeringen.
European Journal of Medical Genetics (2009)
A review of known imprinting syndromes and their association with assisted reproduction technologies
David J. Amor;Jane Halliday.
Human Reproduction (2008)
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Zornitza Stark;Tiong Y. Tan;Belinda Chong;Gemma R. Brett.
Genetics in Medicine (2016)
Human centromere repositioning “in progress”
David J. Amor;Karen Bentley;Jacinta Ryan;Jo Perry.
Proceedings of the National Academy of Sciences of the United States of America (2004)
Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study
Elizabeth K. Bancroft;Elizabeth C. Page;Elena Castro;Hans Lilja.
European Urology (2014)
Building the centromere: from foundation proteins to 3D organization
David J. Amor;Paul Kalitsis;Huseyin Sumer;K.H. Andy Choo.
Trends in Cell Biology (2004)
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions
Tiong Yang Tan;Oliver James Dillon;Zornitza Stark;Deborah Schofield;Deborah Schofield.
JAMA Pediatrics (2017)
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