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 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.
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.
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.
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.
LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development
Y. Q. Gong;R. B. Slee;N. Fukai;G. Rawadi.
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
Sebastian Köhler;Sandra C. Doelken;Christopher J. Mungall;Sebastian Bauer.
Nucleic Acids Research (2014)
Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial
Robert E MacLaren;Robert E MacLaren;Markus Groppe;Markus Groppe;Alun R Barnard;Charles L Cottriall.
The Lancet (2014)
Missense mutations in COL8A2, the gene encoding the α2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy
Susmito Biswas;Francis L. Munier;Jill Yardley;Niki Hart-Holden.
Human Molecular Genetics (2001)
Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.
Carmel Toomes;Helen M. Bottomley;Richard M. Jackson;Katherine V. Towns.
American Journal of Human Genetics (2004)
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.
Juha Kolehmainen;Graeme C.M. Black;Graeme C.M. Black;Anne Saarinen;Kate Chandler.
American Journal of Human Genetics (2003)
Angelman syndrome phenotype associated with mutations in MECP2 , a gene encoding a methyl CpG binding protein
Pamela Watson;Graeme Black;Simon Ramsden;Margaret Barrow.
Journal of Medical Genetics (2001)
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR
David Ng;Nalin Thakker;Connie M Corcoran;Dian Donnai.
Nature Genetics (2004)
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases
B. Kerr;M. A. Delrue;S. Sigaudy;R. Perveen.
Journal of Medical Genetics (2005)
Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma
Robyn V. Jamieson;Rahat Perveen;Bronwyn Kerr;Martin Carette.
Human Molecular Genetics (2002)
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