What is she best known for?
The fields of study Noriko Miyake is best known for:
Noriko Miyake brings together Gene and Exome sequencing to produce work in her papers.
Genetics and Anatomy are two areas of study in which she engages in interdisciplinary research.
She performs integrative study on Anatomy and Genetics in her works.
She combines Mutation and Molecular biology in her studies.
In her works, she undertakes multidisciplinary study on Molecular biology and Mutation.
Noriko Miyake performs integrative study on Missense mutation and Phenotype.
She merges many fields, such as Phenotype and Missense mutation, in her writings.
Her research is interdisciplinary, bridging the disciplines of Epilepsy and Neuroscience.
As part of her studies on Epilepsy, she often connects relevant areas like Neuroscience.
Her most cited work include:
- Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome (413 citations)
- De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood (372 citations)
- Phytoestrogen Concentrations in Serum from Japanese Men and Women over Forty Years of Age (258 citations)
What are the main themes of her work throughout her whole career to date
In her study, Noriko Miyake carries out multidisciplinary Genetics and Neuroscience research.
Noriko Miyake integrates many fields, such as Neuroscience and Genetics, in her works.
Noriko Miyake integrates many fields in her works, including Gene and Molecular biology.
Noriko Miyake connects Molecular biology with Gene in her research.
In her works, she performs multidisciplinary study on Mutation and Missense mutation.
Her study deals with a combination of Missense mutation and Phenotype.
Her research ties Exome sequencing and Phenotype together.
In her study, she carries out multidisciplinary Exome sequencing and Mutation research.
Noriko Miyake most often published in these fields:
- Genetics (82.28%)
- Gene (82.28%)
- Mutation (53.15%)
What were the highlights of her more recent work (between 2019-2022)?
- Genetics (82.86%)
- Gene (80.00%)
- Phenotype (31.43%)
In recent works Noriko Miyake was focusing on the following fields of study:
Noriko Miyake connects Genetics with Immunology in her research.
Noriko Miyake connects Immunology with Genetics in her research.
She integrates Gene and Computational biology in her research.
With her scientific publications, her incorporates both Computational biology and Gene.
Her research on Phenotype frequently links to adjacent areas such as Exome sequencing.
Her Exome sequencing study frequently draws connections between adjacent fields such as Phenotype.
She performs multidisciplinary study on Mutation and Missense mutation in her works.
Noriko Miyake merges Missense mutation with Mutation in her study.
Neuroscience and Epilepsy are frequently intertwined in her study.
Between 2019 and 2022, her most popular works were:
- Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development (88 citations)
- Digenic mutations in ALDH2 and ADH5 impair formaldehyde clearance and cause a multisystem disorder, AMeD syndrome (28 citations)
- ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice (24 citations)
In her most recent research, the most cited works focused on:
Missense mutation, Haploinsufficiency, Loss function and Gain of function are the subject areas of her Phenotype study.
Many of her Statistics research pursuits overlap with Loss function and Truncation (statistics).
She merges Truncation (statistics) with Statistics in her study.
Genetics and Cancer research are two areas of study in which Noriko Miyake engages in interdisciplinary work.
She conducts interdisciplinary study in the fields of Cancer research and Genetics through her research.
In her articles, she combines various disciplines, including Gene and Exon.
Her studies link Gain of function with Mutation.
She incorporates Epilepsy and Progressive myoclonus epilepsy in her studies.
Noriko Miyake conducts interdisciplinary study in the fields of Progressive myoclonus epilepsy and Myoclonic epilepsy through her research.
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