What is she best known for?
The fields of study she is best known for:
- Gene
- Genetics
- Internal medicine
Kate Downes mainly focuses on Genetics, Genome-wide association study, Single-nucleotide polymorphism, Genetic association and Disease.
Her study in Genetics is interdisciplinary in nature, drawing from both Hemodynamics and Type 1 diabetes.
Genome-wide association study is a subfield of Gene that Kate Downes explores.
Her study looks at the relationship between Single-nucleotide polymorphism and topics such as Allele frequency, which overlap with Population stratification, Human genetics, CDKN2BAS, SNP and Diabetes mellitus genetics.
Kate Downes combines subjects such as Genetic predisposition and Copy-number variation with her study of Genetic association.
Her Disease research is multidisciplinary, relying on both Diabetes mellitus and Genetic linkage.
Her most cited work include:
- Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls (7922 citations)
- Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. (1245 citations)
- Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants (1134 citations)
What are the main themes of her work throughout her whole career to date?
Genetics, Gene, Genome-wide association study, Epigenetics and Internal medicine are her primary areas of study.
Her Genetics research focuses on subjects like Immunology, which are linked to Disease and Megakaryocyte.
The Gene study which covers Computational biology that intersects with RNA and Gene expression.
Her Genome-wide association study study frequently draws parallels with other fields, such as Locus.
Her research integrates issues of Epigenomics, DNA methylation and Immune system in her study of Epigenetics.
As part of the same scientific family, Kate Downes usually focuses on Single-nucleotide polymorphism, concentrating on Type 1 diabetes and intersecting with Case-control study.
She most often published in these fields:
- Genetics (62.69%)
- Gene (36.57%)
- Genome-wide association study (27.61%)
What were the highlights of her more recent work (between 2019-2021)?
- Internal medicine (33.58%)
- Platelet (25.37%)
- Epigenetics (36.57%)
In recent papers she was focusing on the following fields of study:
Kate Downes mainly investigates Internal medicine, Platelet, Epigenetics, Computational biology and Phenotype.
Her research investigates the connection with Epigenetics and areas like Transcriptome which intersect with concerns in Megakaryocyte and Cell biology.
Her Computational biology study combines topics from a wide range of disciplines, such as RNA, Gene, Blood cell, Cell type and Genetic testing.
Her study on Cell type also encompasses disciplines like
- Genome-wide association study together with Disease,
- Genome most often made with reference to DNA microarray.
Her research on Genome concerns the broader Genetics.
Her work carried out in the field of Phenotype brings together such families of science as Epigenomics, Pathophysiology, Pathogenesis and Bioinformatics.
Between 2019 and 2021, her most popular works were:
- Whole-genome sequencing of patients with rare diseases in a national health system. (70 citations)
- Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations (14 citations)
- Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome (8 citations)
In her most recent research, the most cited papers focused on:
- Gene
- Internal medicine
- Genetics
Kate Downes mostly deals with Internal medicine, Platelet disorder, Immunology, Desmopressin and Large cohort.
The study incorporates disciplines such as Genetic variants and DNA sequencing in addition to Internal medicine.
Her Platelet disorder research incorporates themes from Intensive care medicine and Inherited Coagulation Disorders.
In the subject of general Immunology, her work in Immune dysregulation, Immune system and Gray platelet syndrome is often linked to Autoantibody, thereby combining diverse domains of study.
Her research in Immune dysregulation intersects with topics in Penetrance, Primary immunodeficiency, Haploinsufficiency and Immunodeficiency.
Her studies deal with areas such as Clinical trial and Thromboelastometry as well as Desmopressin.
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