What is she best known for?
The fields of study she is best known for:
Her primary areas of investigation include Genetics, Internal medicine, Gene, Cystic fibrosis and Mutation.
Her Missense mutation, Haplotype, Prenatal diagnosis, Mutation and Genotype study are her primary interests in Genetics.
Her Internal medicine research is multidisciplinary, relying on both Endocrinology, Gastroenterology, Heterozygote advantage, Mitochondrial myopathy and Limb-girdle muscular dystrophy.
The Gene study combines topics in areas such as Glutaric acid and Coagulopathy.
Marianne Schwartz has researched Cystic fibrosis in several fields, including Genetic Carrier Screening, Immunology and MEDLINE.
Her biological study spans a wide range of topics, including Multiplex polymerase chain reaction, Multiplex and Multiplex ligation-dependent probe amplification, Exon.
Her most cited work include:
- Association of mannose-binding lectin gene heterogeneity with severity of lung disease and survival in cystic fibrosis (383 citations)
- Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia (354 citations)
- The origin of the major cystic fibrosis mutation (ΔF508) in European populations (301 citations)
What are the main themes of her work throughout her whole career to date?
The scientist’s investigation covers issues in Genetics, Gene, Internal medicine, Mutation and Cystic fibrosis.
Genetics connects with themes related to Molecular biology in her study.
Her Internal medicine study incorporates themes from Gastroenterology, Endocrinology, Heterozygote advantage and Mitochondrial myopathy.
Her work is dedicated to discovering how Mutation, Osteogenesis imperfecta are connected with Osteochondrodysplasia and other disciplines.
The various areas that Marianne Schwartz examines in her Cystic fibrosis study include Prenatal diagnosis, Incidence and Mutation.
Her Mutation research includes elements of Allele frequency and Haplotype.
She most often published in these fields:
- Genetics (51.93%)
- Gene (23.20%)
- Internal medicine (22.65%)
What were the highlights of her more recent work (between 2007-2016)?
- Genetics (51.93%)
- Internal medicine (22.65%)
- Cystic fibrosis (17.68%)
In recent papers she was focusing on the following fields of study:
Her main research concerns Genetics, Internal medicine, Cystic fibrosis, Endocrinology and Mutation.
Locus, Gene, Allele, Genetic marker and Restriction fragment length polymorphism are among the areas of Genetics where Marianne Schwartz concentrates her study.
Her Internal medicine study combines topics in areas such as Anxiety and Cardiology.
Her Cystic fibrosis study deals with Heterozygote advantage intersecting with Exocrine pancreatic insufficiency.
Her Endocrinology research incorporates themes from Carrier screening, Point mutation, Mutation, Asymptomatic and Genotype.
Her Mutation research is multidisciplinary, incorporating elements of Phenotype, Mitochondrial myopathy, Dentinogenesis imperfecta, Osteogenesis imperfecta and Cyanogen bromide.
Between 2007 and 2016, her most popular works were:
- Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders – updated European recommendations (184 citations)
- X-linked myopia: Bornholm eye disease. Linkage to DNA markers on the distal part of Xq (121 citations)
- Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2 (77 citations)
In her most recent research, the most cited papers focused on:
Marianne Schwartz spends much of her time researching Genetics, Internal medicine, Mutation, Endocrinology and Allele.
Her is doing research in Gene, X chromosome, Genetic testing, Prenatal diagnosis and Genetic linkage, both of which are found in Genetics.
She combines topics linked to Mitochondrial DNA with her work on Internal medicine.
Her Mutation study integrates concerns from other disciplines, such as Physical exercise, Cystic fibrosis transmembrane conductance regulator and Genotype.
As a member of one scientific family, Marianne Schwartz mostly works in the field of Endocrinology, focusing on Cystic fibrosis and, on occasion, Genetic counseling, Heterozygote advantage and ATP synthase alpha/beta subunits.
Her research in Allele intersects with topics in Myophosphorylase, Phenotype, Glycogen storage disease type V and Haemophilia A.
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