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.
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.
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.
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
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.
A human phenome-interactome network of protein complexes implicated in genetic disorders
Kasper Lage;E Olof Karlberg;Zenia M Størling;Páll Í Ólason.
Nature Biotechnology (2007)
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein
Jamel Chelly;Zeynep Tümer;Tønne Tønnesen;Anne Petterson.
Nature Genetics (1993)
Diagnosis and management of Silver–Russell syndrome: first international consensus statement
Emma L. Wakeling;Frédéric Brioude;Frédéric Brioude;Oluwakemi Lokulo-Sodipe;Oluwakemi Lokulo-Sodipe;Susan M. O'Connell.
Nature Reviews Endocrinology (2017)
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Frédéric Brioude;Jennifer M Kalish;Alessandro Mussa;Alison C Foster;Alison C Foster.
Nature Reviews Endocrinology (2018)
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.
Zeynep Tümer;Daniella Bach-Holm.
European Journal of Human Genetics (2009)
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Antonie D. Kline;Joanna F. Moss;Angelo Selicorni;Anne Marie Bisgaard.
Nature Reviews Genetics (2018)
Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly
Rikke S. Møller;Sabine Kübart;Maria Hoeltzenbein;Babett Heye.
American Journal of Human Genetics (2008)
Cornelia de Lange syndrome.
M.I. Boyle;C. Jespersgaard;K. Brøndum-Nielsen;A.-M. Bisgaard.
Clinical Genetics (2015)
Early treatment of Menkes disease with parenteral Cooper‐Histidine: Long‐term follow‐up of four treated patients
John Christodoulou;David M. Danks;Bibudhendra Sarkar;Kurt E. Baerlocher.
American Journal of Medical Genetics (1998)
High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease
Fikret Erdogan;Lars Allen Larsen;Litu Zhang;Zeynep Tumer.
Journal of Medical Genetics (2008)
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