What is she best known for?
The fields of study she is best known for:
The scientist’s investigation covers issues in Genetics, Achromatopsia, Missense mutation, GNAT2 and Nonsense mutation.
Her research on Genetics frequently connects to adjacent areas such as Retinal Cone Photoreceptor Cells.
Her Achromatopsia study is related to the wider topic of Ophthalmology.
Her Missense mutation study integrates concerns from other disciplines, such as Congenital stationary night blindness, Locus and Candidate gene.
Her GNAT2 study combines topics from a wide range of disciplines, such as Mutant and Visual phototransduction.
Her work in Mutant addresses subjects such as Allele, which are connected to disciplines such as Gene mutation.
Her most cited work include:
- Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. (273 citations)
- CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders (238 citations)
- Mutations in the CNGB3 gene encoding the β-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21 (234 citations)
What are the main themes of her work throughout her whole career to date?
Her primary areas of investigation include Genetics, Achromatopsia, Ophthalmology, Gene and Retinitis pigmentosa.
All of her Genetics and Mutation, Allele, Phenotype, Missense mutation and Nonsense mutation investigations are sub-components of the entire Genetics study.
Her Mutation study which covers Cone dystrophy that intersects with Color Vision Defects.
Her Achromatopsia study also includes fields such as
- GNAT2 that intertwine with fields like Retinal Cone Photoreceptor Cells,
- Mutant that intertwine with fields like Protein subunit.
In the subject of general Gene, her work in DNA sequencing, Sanger sequencing, Locus and ABCA4 is often linked to In patient, thereby combining diverse domains of study.
Her Retinitis pigmentosa research incorporates themes from Retinal degeneration and Disease gene identification.
She most often published in these fields:
- Genetics (51.29%)
- Achromatopsia (33.19%)
- Ophthalmology (22.41%)
What were the highlights of her more recent work (between 2018-2021)?
- Ophthalmology (22.41%)
- Retinitis pigmentosa (15.95%)
- Genetics (51.29%)
In recent papers she was focusing on the following fields of study:
Susanne Kohl mainly focuses on Ophthalmology, Retinitis pigmentosa, Genetics, Achromatopsia and Visual acuity.
The various areas that Susanne Kohl examines in her Retinitis pigmentosa study include Nonsense mutation, Missense mutation, Dystrophy and Genotype.
Her Gene, Locus, Gene duplication, Exon and Mutation study are her primary interests in Genetics.
Her Locus research includes elements of Color Vision Defects, Retinal Dystrophies, Gene cluster, Cone dystrophy and In silico.
Her Achromatopsia research is multidisciplinary, incorporating perspectives in Photophobia, Clinical endpoint, Randomized controlled trial and GNAT2.
Her studies deal with areas such as Erg, Photopic vision, Single Center and Cohort as well as Visual acuity.
Between 2018 and 2021, her most popular works were:
- ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants (45 citations)
- Safety and Vision Outcomes of Subretinal Gene Therapy Targeting Cone Photoreceptors in Achromatopsia: A Nonrandomized Controlled Trial. (23 citations)
- Characterization of Retinal Structure in ATF6-Associated Achromatopsia. (18 citations)
In her most recent research, the most cited papers focused on:
Susanne Kohl mainly investigates Achromatopsia, Gene, Genetics, Ophthalmology and Visual acuity.
Her Achromatopsia research incorporates elements of Photophobia, Electroretinography, Retinal pigment epithelium, Gene duplication and GNAT2.
Her GNAT2 study integrates concerns from other disciplines, such as Photoreceptor outer segment, Copy-number variation, Mutation, Breakpoint and Exon.
Her study in Ophthalmology is interdisciplinary in nature, drawing from both Bull's eye maculopathy and Maculopathy.
Her Visual acuity research includes themes of Erg, Clinical endpoint, Single Center and Physical examination.
Her research on Allele also deals with topics like
- Locus which is related to area like Compound heterozygosity,
- splice that connect with fields like ABCA4.
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