What is he best known for?
The fields of study he is best known for:
His main research concerns Genetics, Mutation, Missense mutation, Molecular biology and Exon.
His Genetics research is multidisciplinary, incorporating perspectives in Autosomal recessive bestrophinopathy, Bestrophin 1 and Vitelliform macular dystrophy.
His Mutation research includes themes of Phenotype, Kabuki syndrome, Epigenetics and Genotype.
His work deals with themes such as Retinal Telangiectasis, Pathology, Retina, Exudative retinal detachment and Coats' disease, which intersect with Missense mutation.
His work in Molecular biology addresses issues such as Corneal dystrophy, which are connected to fields such as TGFBI, Single-strand conformation polymorphism and Genetic linkage.
His Exon study combines topics in areas such as Exome sequencing, Genetic heterogeneity, Saccharomyces cerevisiae and Homology.
His most cited work include:
- LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development (1926 citations)
- The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data (630 citations)
- Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial (531 citations)
What are the main themes of his work throughout his whole career to date?
His primary scientific interests are in Genetics, Mutation, Gene, Molecular biology and Ophthalmology.
Genetics is a component of his Locus, Exome sequencing, Missense mutation, Phenotype and Exon studies.
His Exome sequencing research includes elements of Genome, Proband and DNA sequencing.
His study on Missense mutation is mostly dedicated to connecting different topics, such as Vitelliform macular dystrophy.
As part of the same scientific family, he usually focuses on Mutation, concentrating on Pathology and intersecting with Genetic heterogeneity.
Bioinformatics is closely connected to Disease in his research, which is encompassed under the umbrella topic of Exome.
He most often published in these fields:
- Genetics (63.77%)
- Mutation (23.91%)
- Gene (18.84%)
What were the highlights of his more recent work (between 2018-2021)?
- Genetics (63.77%)
- Genetic testing (17.15%)
- Exome sequencing (16.67%)
In recent papers he was focusing on the following fields of study:
Graeme C.M. Black mostly deals with Genetics, Genetic testing, Exome sequencing, Retinal and Genomics.
Genome, Genetic variation, Mutation and Microphthalmia are among the areas of Genetics where Graeme C.M. Black concentrates his study.
His study in the field of Mutation testing is also linked to topics like L-type calcium channel.
His study in Genetic testing is interdisciplinary in nature, drawing from both Genetic heterogeneity, Disease, Pediatrics and Albinism.
His research investigates the connection with Exome sequencing and areas like Missense mutation which intersect with concerns in genomic DNA and Exome.
His research integrates issues of Visual acuity and Exon in his study of Retinal.
Between 2018 and 2021, his most popular works were:
- Global birth prevalence of congenital heart defects 1970–2017: updated systematic review and meta-analysis of 260 studies (122 citations)
- Global birth prevalence of congenital heart defects 1970–2017: updated systematic review and meta-analysis of 260 studies (122 citations)
- Germline selection shapes human mitochondrial DNA diversity. (73 citations)
In his most recent research, the most cited papers focused on:
Graeme C.M. Black mainly investigates Retinal, Genetic testing, Genetics, Exome sequencing and Pediatrics.
His studies examine the connections between Retinal and genetics, as well as such issues in Exon, with regards to Conditional gene knockout, Retinal pigment epithelium and Locus.
His biological study spans a wide range of topics, including OCA2, Disease and Ocular albinism, Albinism.
Genetics and Drusen are commonly linked in his work.
His Exome sequencing study improves the overall literature in Mutation.
His Pediatrics research is multidisciplinary, relying on both Pregnancy, Ectopia lentis and Confidence interval.
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