What is she best known for?
The fields of study she is best known for:
Her primary areas of study are Epilepsy, Pediatrics, Missense mutation, Encephalopathy and Genetics.
Her studies in Epilepsy integrate themes in fields like Benign familial neonatal seizures and Ataxia.
In her research on the topic of Pediatrics, Autism and Candidate gene is strongly related with West Syndrome.
Her Missense mutation research includes elements of Gastroenterology, Internal medicine and Exome.
The various areas that Sarah Weckhuysen examines in her Genetics study include Generalized epilepsy, Bioinformatics and Dravet syndrome.
Her work deals with themes such as Gene and Intellectual disability, which intersect with Bioinformatics.
Her most cited work include:
- KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. (309 citations)
- Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes (269 citations)
- Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. (219 citations)
What are the main themes of her work throughout her whole career to date?
Sarah Weckhuysen spends much of her time researching Epilepsy, Genetics, Pediatrics, Missense mutation and Gene.
The study incorporates disciplines such as Internal medicine, Encephalopathy, Bioinformatics, Phenotype and Intellectual disability in addition to Epilepsy.
Her research investigates the connection between Genetics and topics such as Dravet syndrome that intersect with issues in Exon.
Her Pediatrics study also includes fields such as
- Seizure types that connect with fields like Genetic heterogeneity,
- Idiopathic generalized epilepsy and Cortical dysplasia most often made with reference to Pathology.
Her research in Missense mutation intersects with topics in Ataxia and Disease Association.
In Mutation, Sarah Weckhuysen works on issues like Generalized epilepsy, which are connected to SCN1B.
She most often published in these fields:
- Epilepsy (70.97%)
- Genetics (42.58%)
- Pediatrics (29.68%)
What were the highlights of her more recent work (between 2019-2021)?
- Epilepsy (70.97%)
- Phenotype (15.48%)
- Missense mutation (21.29%)
In recent papers she was focusing on the following fields of study:
Sarah Weckhuysen focuses on Epilepsy, Phenotype, Missense mutation, Pediatrics and Genetics.
Her work carried out in the field of Epilepsy brings together such families of science as Precision medicine, Intellectual disability and Cohort.
Sarah Weckhuysen interconnects Dermatology, Hypertrichosis, Aplasia and Mutation in the investigation of issues within Intellectual disability.
Her Phenotype study combines topics from a wide range of disciplines, such as Neuroscience, Synaptogenesis and Neuronal Hyperexcitability.
She has researched Missense mutation in several fields, including Exome sequencing, Dravet syndrome, Copy-number variation, Sodium channel blocker and Ataxia.
Her Pediatrics study integrates concerns from other disciplines, such as Epileptic spasms, Encephalopathy, Ketogenic diet and Medical genetics.
Between 2019 and 2021, her most popular works were:
- Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. (14 citations)
- Genetic potassium channel-associated epilepsies: Clinical review of the Kv family. (12 citations)
- Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. (11 citations)
In her most recent research, the most cited papers focused on:
Her scientific interests lie mostly in Epilepsy, Genetics, Gene, Phenotype and Loss function.
Her Epilepsy research is multidisciplinary, incorporating elements of Neonatal onset, Pediatrics and Arthrogryposis.
Her study in Gene is interdisciplinary in nature, drawing from both Precision medicine, Disease, Ion channel and Potassium channel.
In general Phenotype study, her work on Missense mutation often relates to the realm of SCN3A, thereby connecting several areas of interest.
Her research integrates issues of Phenocopy, Germline, Zebrafish, Allele and Hypotonia in her study of Loss function.
Her Phenocopy study frequently draws connections between related disciplines such as Human brain.
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