What is he best known for?
The fields of study he is best known for:
- Gene
- Internal medicine
- Mutation
His primary areas of investigation include Genetics, Mutation, Internal medicine, Endocrinology and Osteogenesis imperfecta.
His research integrates issues of Procollagen peptidase and Type II collagen in his study of Genetics.
The study incorporates disciplines such as Phenotype, Haploinsufficiency, Molecular biology and Candidate gene in addition to Mutation.
His Internal medicine research includes themes of Urea cycle disorder, Urea cycle, Cellular differentiation and Cell biology.
His work in the fields of Myocyte overlaps with other areas such as Dobutamine.
His Osteogenesis imperfecta study combines topics in areas such as Wnt signaling pathway, Type I collagen, Osteoid, Bruck syndrome and Osteoporosis.
His most cited work include:
- Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes (552 citations)
- Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia. (481 citations)
- Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities (467 citations)
What are the main themes of his work throughout his whole career to date?
Brendan Lee focuses on Internal medicine, Endocrinology, Genetics, Osteogenesis imperfecta and Molecular biology.
His Internal medicine study which covers Urea cycle that intersects with Urea.
The various areas that Brendan Lee examines in his Endocrinology study include Argininosuccinic acid and Arginine, Ornithine.
His study in Genetics concentrates on Gene, Mutation, Missense mutation, Exome sequencing and Phenotype.
His Osteogenesis imperfecta research is multidisciplinary, incorporating perspectives in Type I collagen, Bruck syndrome, Osteoporosis, Cell biology and Pediatrics.
His Molecular biology study incorporates themes from Viral vector, Transgene and Transduction.
He most often published in these fields:
- Internal medicine (32.04%)
- Endocrinology (28.91%)
- Genetics (27.62%)
What were the highlights of his more recent work (between 2016-2021)?
- Osteogenesis imperfecta (21.18%)
- Genetics (27.62%)
- Internal medicine (32.04%)
In recent papers he was focusing on the following fields of study:
His main research concerns Osteogenesis imperfecta, Genetics, Internal medicine, Exome sequencing and Pediatrics.
His Osteogenesis imperfecta research incorporates themes from Clinical research, Bisphosphonate, Disease and Craniofacial.
Genetics is a component of his Missense mutation, Gene, Intellectual disability, Phenotype and Hypotonia studies.
His study looks at the relationship between Internal medicine and topics such as Endocrinology, which overlap with Extracellular matrix.
His biological study spans a wide range of topics, including Bioinformatics and Pathology.
The Pediatrics study combines topics in areas such as Cohort and Natural history study.
Between 2016 and 2021, his most popular works were:
- Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management (165 citations)
- Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease (103 citations)
- MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome. (89 citations)
In his most recent research, the most cited papers focused on:
- Gene
- Internal medicine
- Mutation
His primary areas of study are Genetics, Missense mutation, Phenotype, Intellectual disability and Cell biology.
His work carried out in the field of Missense mutation brings together such families of science as Germline, Genetic linkage, Genotype, Molecular genetics and Polymerase chain reaction.
His studies deal with areas such as Fibronectin, Neurologic decline, Allele and Fibrillin as well as Phenotype.
His study in Cell biology is interdisciplinary in nature, drawing from both Peroxisome, Cellular differentiation, Intravital Imaging and Osteoblast.
His Osteoblast study combines topics from a wide range of disciplines, such as Internal medicine, Endocrinology and Osteogenesis imperfecta.
Many of his research projects under Endocrinology are closely connected to Induced pluripotent stem cell with Induced pluripotent stem cell, tying the diverse disciplines of science together.
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