What is she best known for?
The fields of study she is best known for:
Jill A. Rosenfeld spends much of her time researching Genetics, Comparative genomic hybridization, Copy-number variation, Autism and Bioinformatics.
Her study on Genetics is mostly dedicated to connecting different topics, such as Autism spectrum disorder.
Her work deals with themes such as Human genome, Chromosome Breakpoints, Breakpoint, Segmental duplication and Small nuclear ribonucleoprotein polypeptide N, which intersect with Comparative genomic hybridization.
Jill A. Rosenfeld has included themes like Genomics, Exome, Gene duplication, Genetic heterogeneity and Candidate gene in her Copy-number variation study.
Her Bioinformatics research is multidisciplinary, incorporating perspectives in Prenatal diagnosis, Disease, Heart disease, Atrial septum and Genetic testing.
Jill A. Rosenfeld has researched Intellectual disability in several fields, including Microdeletion syndrome, Haploinsufficiency and Locus.
Her most cited work include:
- A copy number variation morbidity map of developmental delay (946 citations)
- A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay (481 citations)
- Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development (464 citations)
What are the main themes of her work throughout her whole career to date?
Jill A. Rosenfeld mainly focuses on Genetics, Phenotype, Intellectual disability, Gene and Missense mutation.
Her Genetics study is mostly concerned with Copy-number variation, Comparative genomic hybridization, Haploinsufficiency, Exome sequencing and Mutation.
Her research investigates the connection between Copy-number variation and topics such as Gene duplication that intersect with issues in Proband.
Jill A. Rosenfeld interconnects Microarray, Prenatal diagnosis and Segmental duplication in the investigation of issues within Comparative genomic hybridization.
Her Intellectual disability research integrates issues from Bioinformatics, Autism, Autism spectrum disorder, Microcephaly and Speech delay.
Her study focuses on the intersection of Missense mutation and fields such as Hypotonia with connections in the field of Ataxia.
She most often published in these fields:
- Genetics (74.93%)
- Phenotype (30.13%)
- Intellectual disability (23.73%)
What were the highlights of her more recent work (between 2019-2021)?
- Genetics (74.93%)
- Phenotype (30.13%)
- Missense mutation (20.53%)
In recent papers she was focusing on the following fields of study:
Her main research concerns Genetics, Phenotype, Missense mutation, Exome sequencing and Gene.
Her Genetics study frequently links to other fields, such as Autism.
Her Phenotype research is multidisciplinary, relying on both CRISPR, Mutation, CAD, Germline and Disease.
Her research on Missense mutation also deals with topics like
- Hypotonia, which have a strong connection to Ataxia,
- Metabolic disorder which intersects with area such as Congenital disorder of glycosylation.
Her Exome sequencing research focuses on Bioinformatics and how it relates to Neural tube defect.
In the subject of general Gene, her work in Transcription factor and Candidate gene is often linked to Titin, thereby combining diverse domains of study.
Between 2019 and 2021, her most popular works were:
- Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. (23 citations)
- Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling. (14 citations)
- Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms (13 citations)
In her most recent research, the most cited papers focused on:
Her scientific interests lie mostly in Genetics, Missense mutation, Exome sequencing, Intellectual disability and Phenotype.
Her research in Genetics focuses on subjects like Autism, which are connected to Speech delay and Mutation.
In her study, Transcription factor, Cell fate determination, Chromatin remodeling, Autism spectrum disorder and Zinc finger is inextricably linked to Neurodevelopmental disorder, which falls within the broad field of Missense mutation.
Her study in Exome sequencing is interdisciplinary in nature, drawing from both Neural crest, In silico, Computational biology, Human genetics and Candidate gene.
The concepts of her Intellectual disability study are interwoven with issues in Mendelian inheritance, Bioinformatics, Microarray, Haploinsufficiency and Cohort.
Her studies in Phenotype integrate themes in fields like Hypotonia, Muscular hypotonia and Homeostasis.
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.
