What is he best known for?
The fields of study he is best known for:
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.
His most cited work include:
- Mutations in smooth muscle α-actin ( ACTA2 ) lead to thoracic aortic aneurysms and dissections (599 citations)
- Beckwith-Wiedemann Syndrome and IVF: A Case-Control Study (306 citations)
- Beckwith-Wiedemann Syndrome and IVF: A Case-Control Study (306 citations)
What are the main themes of his work throughout his whole career to date?
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.
He most often published in these fields:
- Genetics (50.59%)
- Pediatrics (19.23%)
- Fragile X syndrome (21.89%)
What were the highlights of his more recent work (between 2018-2021)?
- Fragile X syndrome (21.89%)
- Pediatrics (19.23%)
- Genetics (50.59%)
In recent papers he was focusing on the following fields of study:
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.
Between 2018 and 2021, his most popular works were:
- Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS (55 citations)
- Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy (29 citations)
- Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis. (26 citations)
In his most recent research, the most cited papers focused on:
- Gene
- Mutation
- Internal medicine
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.
This overview was generated by a machine learning system which analysed the scientist’s
body of work. If you have any feedback, you can
contact us
here.
