What is he best known for?
The fields of study he is best known for:
Eberhard Schwinger focuses on Genetics, Gene, Locus, Point mutation and Mutation.
Eberhard Schwinger focuses mostly in the field of Genetics, narrowing it down to topics relating to Parkin and, in certain cases, Gene dosage.
His Locus research is multidisciplinary, incorporating elements of Allele frequency, CDKL5, Genetic linkage, X chromosome and Candidate gene.
His Genetic linkage study incorporates themes from Genetic marker, Microsatellite and Immunology.
His research integrates issues of Molecular biology and Retinitis pigmentosa in his study of Point mutation.
The concepts of his Mutation study are interwoven with issues in SLC45A2, Oculocutaneous albinism type 4, Hypopigmentation and Albinism, Oculocutaneous albinism.
His most cited work include:
- Sarcoidosis is associated with a truncating splice site mutation in BTNL2. (367 citations)
- An international two-stage genome-wide search for schizophrenia susceptibility genes. (350 citations)
- Mutations in the X-Linked Cyclin-Dependent Kinase–Like 5 (CDKL5/STK9) Gene Are Associated with Severe Neurodevelopmental Retardation (239 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, Mutation and Locus.
His study in Allele, Genotype, Exon, Genetic linkage and Point mutation are all subfields of Genetics.
His studies in Allele integrate themes in fields like Ataxia and Spinocerebellar ataxia.
The various areas that Eberhard Schwinger examines in his Genetic linkage study include Genetic marker, Microsatellite and Immunology.
His research in Molecular biology tackles topics such as Chromosome which are related to areas like Chromosomal translocation.
As part of his studies on Locus, Eberhard Schwinger frequently links adjacent subjects like Gene mapping.
He most often published in these fields:
- Genetics (63.16%)
- Gene (20.53%)
- Molecular biology (14.74%)
What were the highlights of his more recent work (between 2004-2017)?
- Genetics (63.16%)
- Gene (20.53%)
- Prenatal diagnosis (8.95%)
In recent papers he was focusing on the following fields of study:
His scientific interests lie mostly in Genetics, Gene, Prenatal diagnosis, Allele and Genetic linkage.
His Genetic testing, Genotype, Locus, Exon and Missense mutation investigations are all subjects of Genetics research.
His study in Gene is interdisciplinary in nature, drawing from both DiGeorge syndrome, Cancer research and Disease.
His Prenatal diagnosis research is multidisciplinary, incorporating perspectives in Pathology, Karyotype and Obstetrics.
The study incorporates disciplines such as Genetic marker, Molecular biology, Löfgren syndrome and Preimplantation genetic diagnosis in addition to Allele.
His Genetic linkage study combines topics in areas such as Family aggregation, Microsatellite and Haplotype.
Between 2004 and 2017, his most popular works were:
- Sarcoidosis is associated with a truncating splice site mutation in BTNL2. (367 citations)
- Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human (90 citations)
- Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias. (76 citations)
In his most recent research, the most cited papers focused on:
Genetics, Allele, Locus, Genetic linkage and Missense mutation are his primary areas of study.
His biological study spans a wide range of topics, including Disease and Pathology.
Eberhard Schwinger has researched Allele in several fields, including Systemic disease and Immunology.
His research in Locus intersects with topics in Family aggregation, Complete linkage, Gene mutation, Genetic marker and Microsatellite.
His Genetic linkage study integrates concerns from other disciplines, such as Neurological disorder, Neuroscience, Mutation and Haplotype.
His work carried out in the field of Missense mutation brings together such families of science as Frameshift mutation, Mutation testing, Spinocerebellar ataxia and Trinucleotide repeat expansion.
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