What is he best known for?
The fields of study he is best known for:
- Gene
- Mutation
- Internal medicine
Genetics, Mutation, Missense mutation, Noonan syndrome and Phenotype are his primary areas of study.
Martin Zenker combines Genetics and Developmental disorder in his studies.
His Mutation study combines topics in areas such as Endocrinology, Nephrotic syndrome, Internal medicine, Osteochondrodysplasia and Haploinsufficiency.
His Missense mutation research includes elements of Microcoria, Rett syndrome, Allele and Frameshift mutation.
His biological study spans a wide range of topics, including RASopathy, Germline mutation, Costello syndrome, Noonan Syndrome with Multiple Lentigines and PTPN11.
His Phenotype research integrates issues from Hypotonia, Genotype and Congenital nephrotic syndrome.
His most cited work include:
- Germline KRAS mutations cause Noonan syndrome (593 citations)
- Human laminin β2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities (396 citations)
- Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. (331 citations)
What are the main themes of his work throughout his whole career to date?
His scientific interests lie mostly in Genetics, Noonan syndrome, Internal medicine, Mutation and Phenotype.
His Genetics study focuses mostly on Missense mutation, Gene, Genetic heterogeneity, Haploinsufficiency and Frameshift mutation.
His Missense mutation research is multidisciplinary, relying on both Congenital nephrotic syndrome and Short stature.
Martin Zenker interconnects RASopathy, Germline mutation and KRAS, Costello syndrome, PTPN11 in the investigation of issues within Noonan syndrome.
The concepts of his Internal medicine study are interwoven with issues in Gastroenterology, Cardiology, Endocrinology and Pathology.
The study incorporates disciplines such as Osteochondrodysplasia, Exon, Molecular biology, Allele and Cell biology in addition to Mutation.
He most often published in these fields:
- Genetics (39.77%)
- Noonan syndrome (20.46%)
- Internal medicine (19.02%)
What were the highlights of his more recent work (between 2018-2021)?
- Genetics (39.77%)
- Noonan syndrome (20.46%)
- Phenotype (15.85%)
In recent papers he was focusing on the following fields of study:
Martin Zenker mainly investigates Genetics, Noonan syndrome, Phenotype, Gene and Mutation.
His work on Short stature expands to the thematically related Genetics.
His Noonan syndrome study incorporates themes from RASopathy, Hypertrophic cardiomyopathy and MAPK cascade, Ras mapk signaling, MAPK/ERK pathway.
His research integrates issues of Aplasia cutis congenita, Dock6, Mutant and Germline in his study of Phenotype.
His biological study spans a wide range of topics, including Pregnancy, Cancer research, Germline mutation and Somatic cell.
His Mutation research focuses on Congenital hyperinsulinism and how it relates to Nuclear medicine.
Between 2018 and 2021, his most popular works were:
- Identifying facial phenotypes of genetic disorders using deep learning (164 citations)
- The landscape of epilepsy-related GATOR1 variants (50 citations)
- Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling (21 citations)
In his most recent research, the most cited papers focused on:
- Gene
- Mutation
- Internal medicine
Martin Zenker focuses on Noonan syndrome, Mutation, RASopathy, Gene and Cell biology.
He has researched Noonan syndrome in several fields, including Medical diagnosis, Facial analysis, Machine learning and MAPK cascade, MAPK/ERK pathway.
His MAPK/ERK pathway study necessitates a more in-depth grasp of Genetics.
Martin Zenker conducts interdisciplinary study in the fields of Genetics and MRAS through his research.
His research in Mutation intersects with topics in Genetic analysis, Hypertrophic cardiomyopathy, Cardiology and Ubiquitin ligase.
His RASopathy research incorporates themes from Medical research, Gene mutation, Intensive care medicine, Patient advocacy and Personalized medicine.
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