What is she best known for?
The fields of study she is best known for:
Her scientific interests lie mostly in Genetics, Menkes disease, Occipital horn syndrome, ATP7A and Gene.
Her Genetics research includes elements of Molecular biology and Disease.
The study incorporates disciplines such as Internal medicine and Endocrinology in addition to Menkes disease.
Her Occipital horn syndrome research is multidisciplinary, relying on both Point mutation and Exon.
Zeynep Tümer focuses mostly in the field of ATP7A, narrowing it down to topics relating to Allele and, in certain cases, Positional cloning.
Her studies in Phenotype integrate themes in fields like Alzheimer's disease, Proteomics, Genotype and Interactome.
Her most cited work include:
- A human phenome-interactome network of protein complexes implicated in genetic disorders (812 citations)
- Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein (607 citations)
- Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. (173 citations)
What are the main themes of her work throughout her whole career to date?
Genetics, Menkes disease, Gene, Phenotype and Chromosomal translocation are her primary areas of study.
Her work investigates the relationship between Genetics and topics such as Molecular biology that intersect with problems in Metaphase.
The study incorporates disciplines such as Mutation, ATP7A and Pathology in addition to Menkes disease.
Her work in Gene addresses issues such as Tourette syndrome, which are connected to fields such as Cohort, Neurodevelopmental disorder and Copy-number variation.
Her Phenotype research includes elements of Gene duplication, Cornelia de Lange Syndrome, Disease and Silver–Russell syndrome.
Autism, Bioinformatics and Missense mutation is closely connected to Intellectual disability in her research, which is encompassed under the umbrella topic of Candidate gene.
She most often published in these fields:
- Genetics (70.37%)
- Menkes disease (15.64%)
- Gene (16.05%)
What were the highlights of her more recent work (between 2015-2021)?
- Genetics (70.37%)
- Phenotype (16.46%)
- Pediatrics (9.47%)
In recent papers she was focusing on the following fields of study:
Zeynep Tümer focuses on Genetics, Phenotype, Pediatrics, Copy-number variation and Allele.
As part of her studies on Genetics, she often connects relevant subjects like Tourette syndrome.
Her studies deal with areas such as Cornelia de Lange Syndrome, Cohesin complex, Autism, Silver–Russell syndrome and Imprinting as well as Phenotype.
Her Pediatrics research is multidisciplinary, relying on both Medical record, Cognitive impairment, Global developmental delay and Epilepsy.
Zeynep Tümer has included themes like Chromosomal region, MEDLINE and Exon in her Copy-number variation study.
Her study in Allele is interdisciplinary in nature, drawing from both Endocrinology, DNA methylation, Neurodevelopmental disorder, Internal medicine and Genotype.
Between 2015 and 2021, her most popular works were:
- Diagnosis and management of Silver–Russell syndrome: first international consensus statement (172 citations)
- Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: An international consensus statement (148 citations)
- Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement (79 citations)
In her most recent research, the most cited papers focused on:
Her primary areas of investigation include Genetics, Phenotype, Copy-number variation, Chromothripsis and Gene.
Her studies in Locus, Uniparental disomy, Genetic counseling, Rett syndrome and Exome are all subfields of Genetics research.
The various areas that Zeynep Tümer examines in her Phenotype study include Young adult, Autism, Electroencephalography and Epilepsy.
Her Chromothripsis study also includes
- Whole genome sequencing, Genome, Ring chromosome and Structural variation most often made with reference to Breakpoint,
- Germline that intertwine with fields like Polymerase chain reaction, Chromosomal rearrangement, Chromosomal translocation, Germline mutation and Homologous recombination.
Her work deals with themes such as Mutation and Cohort, which intersect with Gene.
Her research integrates issues of Odds ratio, DNA sequencing, Tourette syndrome and Candidate gene in her study of Exon.
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