What is he best known for?
The fields of study he is best known for:
Andreas Gal spends much of his time researching Genetics, Retinitis pigmentosa, Mutation, Gene and Fabry disease.
His work on Genetics deals in particular with Gene mapping, Locus, Exon, Missense mutation and Frameshift mutation.
His Missense mutation research is multidisciplinary, relying on both Retinal degeneration and Genotype.
His work carried out in the field of Retinitis pigmentosa brings together such families of science as Retinal pigment epithelium, Rhodopsin, Genetic heterogeneity and Gene mutation.
His Mutation research includes elements of Phenotype, Retinal Dystrophies, Neuroscience and Dorsal root ganglion.
His research in Fabry disease intersects with topics in Surgery, Vascular disease, Enzyme replacement therapy, Cross-sectional study and Case-control study.
His most cited work include:
- Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. (549 citations)
- Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. (524 citations)
- A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C. (396 citations)
What are the main themes of his work throughout his whole career to date?
His primary areas of study are Genetics, Gene, Molecular biology, Retinitis pigmentosa and Internal medicine.
Missense mutation, Mutation, Locus, Exon and Point mutation are the subjects of his Genetics studies.
Andreas Gal has included themes like Genetic linkage and Gene mapping in his Locus study.
His biological study spans a wide range of topics, including Mutant protein and Mutant.
Visual phototransduction is closely connected to Retinal degeneration in his research, which is encompassed under the umbrella topic of Retinitis pigmentosa.
His Internal medicine study incorporates themes from Gastroenterology and Endocrinology.
He most often published in these fields:
- Genetics (61.30%)
- Gene (24.14%)
- Molecular biology (19.16%)
What were the highlights of his more recent work (between 2008-2020)?
- Genetics (61.30%)
- Fabry disease (12.26%)
- Internal medicine (16.48%)
In recent papers he was focusing on the following fields of study:
His primary areas of investigation include Genetics, Fabry disease, Internal medicine, Gene and Pathology.
His work in Genetic testing, Retinitis pigmentosa, Mutation, Nonsense mutation and Point mutation is related to Genetics.
His Retinitis pigmentosa study combines topics in areas such as Retinal degeneration and snRNP.
His Internal medicine study combines topics from a wide range of disciplines, such as Gastroenterology and Endocrinology.
His work on Human genetics, Exon, DNA sequencing and Multiplex ligation-dependent probe amplification as part of his general Gene study is frequently connected to Proteolipid protein 1, thereby bridging the divide between different branches of science.
His studies deal with areas such as Retinal, Family history and Family medicine as well as Pathology.
Between 2008 and 2020, his most popular works were:
- Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. (155 citations)
- Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy (144 citations)
- Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. (92 citations)
In his most recent research, the most cited papers focused on:
His scientific interests lie mostly in Genetics, Mutation, Nonsense mutation, Locus and Genetic linkage.
His study in Point mutation, Gene duplication, Allele, SOX9 and Regulatory sequence falls under the purview of Genetics.
His biological study spans a wide range of topics, including Phenotype, Dystrophy and Neuroscience, Sensory system.
His research combines Retinitis pigmentosa and Nonsense mutation.
His biological study deals with issues like Chromatin immunoprecipitation, which deal with fields such as Retinal degeneration and Retina.
His Genetic linkage research is within the category of Gene.
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