What is she best known for?
The fields of study she is best known for:
- Internal medicine
- Gene
- Mutation
The scientist’s investigation covers issues in Genetics, Neuroscience, Autism, Internal medicine and Mutation.
In her study, Genetic heterogeneity, Age of onset, Hypsarrhythmia, Genotype and Ictal is inextricably linked to Rett syndrome, which falls within the broad field of Neuroscience.
Her Genetic heterogeneity research is multidisciplinary, incorporating elements of Encephalopathy and Epilepsy.
Her work is dedicated to discovering how Autism, Brain mapping are connected with Magnetic resonance imaging and other disciplines.
Her Internal medicine study incorporates themes from Gastroenterology, Endocrinology, T-box and Neurogenesis.
The Mutation study combines topics in areas such as Microtubule and Microcephaly.
Her most cited work include:
- Abnormal cortical voice processing in autism. (400 citations)
- The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. (380 citations)
- Suggested guidelines for the diagnosis and management of urea cycle disorders (370 citations)
What are the main themes of her work throughout her whole career to date?
Nathalie Boddaert mainly focuses on Pathology, Internal medicine, Genetics, Magnetic resonance imaging and Pediatrics.
Her Pathology research is multidisciplinary, incorporating perspectives in Polymicrogyria and Anatomy.
Her Internal medicine research includes elements of Gastroenterology, Endocrinology and Cardiology.
Mutation, Missense mutation, Exome sequencing, Phenotype and Gene are among the areas of Genetics where she concentrates her study.
Her study looks at the relationship between Magnetic resonance imaging and topics such as Cerebral blood flow, which overlap with Perfusion.
She interconnects Encephalopathy, Surgery and Epilepsy in the investigation of issues within Pediatrics.
She most often published in these fields:
- Pathology (27.68%)
- Internal medicine (19.10%)
- Genetics (17.74%)
What were the highlights of her more recent work (between 2018-2021)?
- Internal medicine (19.10%)
- Pathology (27.68%)
- Radiology (13.84%)
In recent papers she was focusing on the following fields of study:
Her scientific interests lie mostly in Internal medicine, Pathology, Radiology, Magnetic resonance imaging and Pediatrics.
Her research in Internal medicine intersects with topics in Gastroenterology, Endocrinology, Weakness and Cardiology.
Her work investigates the relationship between Pathology and topics such as Methylation that intersect with problems in DNA methylation.
Her Radiology study integrates concerns from other disciplines, such as Fetus and Retrospective cohort study.
Her studies deal with areas such as Gestational age, Central nervous system and Cerebral blood flow as well as Magnetic resonance imaging.
The Pediatrics study combines topics in areas such as Immunosuppression, Disease, Rash and Immunodeficiency.
Between 2018 and 2021, her most popular works were:
- Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome. (23 citations)
- Diagnostics of pediatric supratentorial RELA ependymomas: integration of information from histopathology, genetics, DNA methylation and imaging. (19 citations)
- Diagnostics of pediatric supratentorial RELA ependymomas: integration of information from histopathology, genetics, DNA methylation and imaging. (19 citations)
In her most recent research, the most cited papers focused on:
- Internal medicine
- Gene
- Mutation
Nathalie Boddaert mostly deals with Internal medicine, Radiology, Pathology, Pediatrics and Retrospective cohort study.
The study incorporates disciplines such as Endocrinology, Glioma and Cardiology in addition to Internal medicine.
Her studies in Radiology integrate themes in fields like Birthmark and Central nervous system.
The concepts of her Pathology study are interwoven with issues in Methylation and DNA methylation.
Her Pediatrics study combines topics from a wide range of disciplines, such as Meta-analysis, Bone imaging, Disease and SKELETAL PAIN.
In her study, which falls under the umbrella issue of Disease, Phenotype is strongly linked to Dystonia.
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