What is he best known for?
The fields of study he is best known for:
- Gene
- Mutation
- Internal medicine
Genetics, Noonan syndrome, PTPN11, LEOPARD Syndrome and Noonan Syndrome with Multiple Lentigines are his primary areas of study.
His Genetics study focuses on Missense mutation, Mutation, Autosomal dominant trait, Copy-number variation and Single-nucleotide polymorphism in particular.
The various areas that Bruce D. Gelb examines in his Noonan syndrome study include RASopathy, KRAS, Cardiofaciocutaneous syndrome, SOS1 and Genetic heterogeneity.
His biological study spans a wide range of topics, including Cancer research, Germline mutation, Signal transduction, Protein tyrosine phosphatase and Juvenile myelomonocytic leukemia.
The study incorporates disciplines such as Endocrinology, Internal medicine and Webbed neck in addition to Noonan Syndrome with Multiple Lentigines.
His Internal medicine study integrates concerns from other disciplines, such as Surgery and Cardiology.
His most cited work include:
- Mutations in PTPN11 , encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome (1288 citations)
- Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency (863 citations)
- Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia (786 citations)
What are the main themes of his work throughout his whole career to date?
Bruce D. Gelb mainly focuses on Genetics, Noonan syndrome, Internal medicine, PTPN11 and Heart disease.
His study in Missense mutation, Mutation, Gene, Phenotype and Allele falls under the purview of Genetics.
His studies deal with areas such as RASopathy, Germline mutation, SOS1, Noonan Syndrome with Multiple Lentigines and Costello syndrome as well as Noonan syndrome.
His Internal medicine research incorporates themes from Endocrinology, Surgery and Cardiology.
Bruce D. Gelb interconnects LEOPARD Syndrome, Juvenile myelomonocytic leukemia, Cancer research and Protein tyrosine phosphatase in the investigation of issues within PTPN11.
His research ties Bioinformatics and Heart disease together.
He most often published in these fields:
- Genetics (40.98%)
- Noonan syndrome (21.31%)
- Internal medicine (17.70%)
What were the highlights of his more recent work (between 2017-2021)?
- Genetics (40.98%)
- Heart disease (11.15%)
- Internal medicine (17.70%)
In recent papers he was focusing on the following fields of study:
Bruce D. Gelb focuses on Genetics, Heart disease, Internal medicine, Phenotype and Gene.
Exome sequencing, Genome-wide association study, Somatic cell, Exome and Allele are the core of his Genetics study.
His study in Heart disease is interdisciplinary in nature, drawing from both Human Induced Pluripotent Stem Cells, Proband, Cohort and Copy-number variation.
His work in Internal medicine addresses subjects such as Cardiology, which are connected to disciplines such as Haploinsufficiency.
His Phenotype research is multidisciplinary, incorporating perspectives in Noonan syndrome, MAPK/ERK pathway and Bioinformatics.
His Noonan syndrome research is multidisciplinary, incorporating elements of RASopathy, Signal transduction, Germline and Costello syndrome.
Between 2017 and 2021, his most popular works were:
- Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. (92 citations)
- Mapping Systemic Inflammation and Antibody Responses in Multisystem Inflammatory Syndrome in Children (MIS-C) (91 citations)
- Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes (62 citations)
In his most recent research, the most cited papers focused on:
- Gene
- Internal medicine
- Mutation
His primary areas of study are Genetics, Heart disease, Gene, Noonan syndrome and Disease.
His Genetics research focuses on Exome sequencing, Phenotype, Genome-wide association study, Macrocephaly and Eye development.
The Heart disease study combines topics in areas such as Human genetics, Cohort and Copy-number variation.
His Gene research is multidisciplinary, relying on both Odds ratio and Confidence interval.
His work carried out in the field of Noonan syndrome brings together such families of science as Gestational age, Bioinformatics, Cardiomyopathy, Hypertrophic cardiomyopathy and Germline.
His Disease study incorporates themes from Human physiology, Risk analysis and Patient care.
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