What is she best known for?
The fields of study she is best known for:
- Gene
- Internal medicine
- Mutation
The scientist’s investigation covers issues in Genetics, Internal medicine, Missense mutation, Sudden death and Pathology.
Her study looks at the relationship between Genetics and topics such as Molecular biology, which overlap with Genetic linkage.
Her work carried out in the field of Internal medicine brings together such families of science as Endocrinology and Cardiology.
In her study, Mutant protein is strongly linked to Ryanodine receptor, which falls under the umbrella field of Missense mutation.
Genetic testing is closely connected to Genotype in her research, which is encompassed under the umbrella topic of Sudden death.
The concepts of her Pathology study are interwoven with issues in Muscular dystrophy, Congenital muscular dystrophy, Muscle weakness and Selenoprotein N.
Her most cited work include:
- Genotype-Phenotype Correlation in the Long-QT Syndrome Gene-Specific Triggers for Life-Threatening Arrhythmias (1411 citations)
- A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. (929 citations)
- A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome (773 citations)
What are the main themes of her work throughout her whole career to date?
Internal medicine, Genetics, Endocrinology, Pathology and Mutation are her primary areas of study.
Her Internal medicine research focuses on Cardiology and how it relates to Catecholaminergic polymorphic ventricular tachycardia and Asymptomatic.
Her studies in Genetics integrate themes in fields like Molecular biology and Sudden death.
The various areas that Pascale Guicheney examines in her Pathology study include Muscular dystrophy, Congenital muscular dystrophy and Muscle weakness.
She has included themes like hERG, Potassium channel and Proband in her Long QT syndrome study.
Her Congenital myopathy research incorporates elements of DNM2, Centronuclear myopathy and Dynamin.
She most often published in these fields:
- Internal medicine (35.34%)
- Genetics (41.10%)
- Endocrinology (22.77%)
What were the highlights of her more recent work (between 2011-2021)?
- Genetics (41.10%)
- Internal medicine (35.34%)
- Brugada syndrome (15.18%)
In recent papers she was focusing on the following fields of study:
Pascale Guicheney mainly investigates Genetics, Internal medicine, Brugada syndrome, Long QT syndrome and Cell biology.
All of her Genetics and Allele, Missense mutation, Mutation, Genetic heterogeneity and Candidate gene investigations are sub-components of the entire Genetics study.
The Internal medicine study combines topics in areas such as Endocrinology, Mutation and Cardiology.
The study incorporates disciplines such as Loss function, Cardiac conduction, Sudden death, Nav1.5 and Sudden cardiac death in addition to Brugada syndrome.
Her Long QT syndrome research entails a greater understanding of QT interval.
Her study in Cell biology is interdisciplinary in nature, drawing from both HEK 293 cells, Myopathy, Skeletal muscle and Dynamin.
Between 2011 and 2021, her most popular works were:
- Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death (337 citations)
- Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death (337 citations)
- Absence of Triadin, a Protein of the Calcium Release Complex, is Responsible for Cardiac Arrhythmia with Sudden Death in Human (186 citations)
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