What is he best known for?
The fields of study he is best known for:
William J. Kimberling focuses on Genetics, Hearing loss, Usher syndrome, Usher Syndrome Type 1 and Gene mapping.
His research in Genetic marker, Linkage, Frameshift mutation, Gene and Genetic linkage are components of Genetics.
His Hearing loss research is multidisciplinary, relying on both Mutation, Point mutation and Genetic testing.
The Usher syndrome study combines topics in areas such as Nonsyndromic deafness, Gene expression and Molecular biology.
His work focuses on many connections between Usher Syndrome Type 1 and other disciplines, such as Pediatrics, that overlap with his field of interest in Disease, Sibling, Pregnancy and Offspring.
His studies in Audiology integrate themes in fields like Genetic counseling and Gene mutation.
His most cited work include:
- PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein (1150 citations)
- Defective myosin VIIA gene responsible for Usher syndrome type 1B (931 citations)
- Quantitative trait locus for reading disability on chromosome 6. (480 citations)
What are the main themes of his work throughout his whole career to date?
William J. Kimberling focuses on Genetics, Usher syndrome, Hearing loss, Gene and Retinitis pigmentosa.
His work in Gene mapping, Locus, Genetic linkage, Mutation and Missense mutation are all subfields of Genetics research.
The study incorporates disciplines such as Linkage and Autosomal dominant polycystic kidney disease in addition to Genetic linkage.
His Usher syndrome study combines topics in areas such as Genetic heterogeneity and Pediatrics.
His Hearing loss research is included under the broader classification of Audiology.
His MYO7A research incorporates elements of Retinal degeneration, PCDH15 and CDH23.
He most often published in these fields:
- Genetics (57.73%)
- Usher syndrome (50.91%)
- Hearing loss (36.36%)
What were the highlights of his more recent work (between 2004-2019)?
- Usher syndrome (50.91%)
- Genetics (57.73%)
- Hearing loss (36.36%)
In recent papers he was focusing on the following fields of study:
His main research concerns Usher syndrome, Genetics, Hearing loss, Audiology and Missense mutation.
His Usher syndrome study incorporates themes from Pediatrics and Gene mutation.
His research related to Locus, Genetic heterogeneity, Genetic linkage, Gene and PCDH15 might be considered part of Genetics.
His Hearing loss research integrates issues from Mutation, Phenotype, CDH23 and Genotype.
His Audiology course of study focuses on Usher Syndrome Type 1 and Genetic counseling, Genetic testing, Nonsyndromic deafness, Cell growth and Mutant.
William J. Kimberling interconnects Single-nucleotide polymorphism and Frameshift mutation in the investigation of issues within Missense mutation.
Between 2004 and 2019, his most popular works were:
- New Approaches to the Treatment of Dense Deposit Disease (189 citations)
- Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. (141 citations)
- Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. (141 citations)
In his most recent research, the most cited papers focused on:
The scientist’s investigation covers issues in Hearing loss, Genetics, Mutation, Usher syndrome and Missense mutation.
His work deals with themes such as Pendred syndrome and Internal medicine, Genetic testing, which intersect with Hearing loss.
His research combines Sensorineural hearing loss and Genetics.
His Mutation study combines topics from a wide range of disciplines, such as Allele and Branchio-oto-renal syndrome.
His research on Usher syndrome frequently connects to adjacent areas such as Gene mutation.
As part of the same scientific family, he usually focuses on Missense mutation, concentrating on Frameshift mutation and intersecting with Nonsense mutation, Locus, Gene mapping and Molecular biology.
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