What is she best known for?
The fields of study she is best known for:
Judith A. Goodship spends much of her time researching Genetics, Mutation, Complement system, Factor H and Atypical hemolytic uremic syndrome.
Her studies link Molecular biology with Genetics.
Her study in Mutation is interdisciplinary in nature, drawing from both Ellis–van Creveld syndrome, Pedigree chart and Neural crest.
Her Complement system study necessitates a more in-depth grasp of Immunology.
Her Immunology study deals with Frameshift mutation intersecting with Candidate gene, Hemolytic uremic syndrome and Pathogenesis.
As part of one scientific family, she deals mainly with the area of Atypical hemolytic uremic syndrome, narrowing it down to issues related to the Hemolytic anemia, and often Gene.
Her most cited work include:
- Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. (957 citations)
- Large-scale discovery of novel genetic causes of developmental disorders (661 citations)
- A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome (655 citations)
What are the main themes of her work throughout her whole career to date?
Her scientific interests lie mostly in Genetics, Internal medicine, Gene, Mutation and Locus.
Her Genetics study frequently links to adjacent areas such as Molecular biology.
Judith A. Goodship interconnects Gastroenterology, Endocrinology and Cardiology in the investigation of issues within Internal medicine.
Her work in Chromosome covers topics such as DiGeorge syndrome which are related to areas like Pathology.
The study incorporates disciplines such as Atypical hemolytic uremic syndrome and Hemolytic uremic syndrome in addition to Factor H.
Atypical hemolytic uremic syndrome is the topic of her studies on Immunology and Complement system.
She most often published in these fields:
- Genetics (60.19%)
- Internal medicine (15.53%)
- Gene (13.11%)
What were the highlights of her more recent work (between 2011-2019)?
- Genetics (60.19%)
- Gene (13.11%)
- Exome (3.88%)
In recent papers she was focusing on the following fields of study:
Genetics, Gene, Exome, Bioinformatics and Exome sequencing are her primary areas of study.
Her studies in Genetics integrate themes in fields like Odds ratio and Heart disease.
Judith A. Goodship has researched Exome in several fields, including Persistent truncus arteriosus, Phenocopy, Point mutation, Medical genetics and Candidate gene.
Her Exome sequencing research includes themes of Missense mutation, Computational biology and Great arteries.
Her studies deal with areas such as Chromosome, Genotyping, Immunology and Locus as well as Single-nucleotide polymorphism.
Her work carried out in the field of Penetrance brings together such families of science as Atypical hemolytic uremic syndrome, Factor H and CD46.
Between 2011 and 2019, her most popular works were:
- Large-scale discovery of novel genetic causes of developmental disorders (661 citations)
- Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease (212 citations)
- Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing (170 citations)
In her most recent research, the most cited papers focused on:
The scientist’s investigation covers issues in Genetics, Gene, Exome, Phenotype and Medical genetics.
Her Genetics research focuses on Odds ratio and how it connects with Heart disease.
Her research in the fields of Missense mutation overlaps with other disciplines such as BMPR1A.
Her Medical genetics research is multidisciplinary, relying on both Young adult, Natural history and Pathological.
She focuses mostly in the field of Chromosome, narrowing it down to topics relating to Single-nucleotide polymorphism and, in certain cases, Locus, Gene duplication and Gene rearrangement.
Her studies examine the connections between Genetic heterogeneity and genetics, as well as such issues in Epigenetics, with regards to Mutation.
This overview was generated by a machine learning system which analysed the scientist’s
body of work. If you have any feedback, you can
contact us
here.
