What is he best known for?
The fields of study he is best known for:
- Mutation
- Gene
- Internal medicine
His scientific interests lie mostly in Genetics, Missense mutation, Anatomy, Osteochondrodysplasia and Dysplasia.
His research in Genetics intersects with topics in Filamin and FLNB.
His studies in Missense mutation integrate themes in fields like Molecular biology, Internal medicine, Spondyloepimetaphyseal dysplasia and Loss of heterozygosity.
The study incorporates disciplines such as Dwarfism and Radiography in addition to Anatomy.
His Osteochondrodysplasia study integrates concerns from other disciplines, such as Genetic counseling, Achondrogenesis and Multiple epiphyseal dysplasia.
His work carried out in the field of Dysplasia brings together such families of science as Endocrinology, Thanatophoric dysplasia, Prenatal diagnosis, Genetic heterogeneity and Pediatrics.
His most cited work include:
- Nosology and classification of genetic skeletal disorders : 2010 revision (539 citations)
- Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3 (523 citations)
- Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene (414 citations)
What are the main themes of his work throughout his whole career to date?
Ralph S. Lachman spends much of his time researching Anatomy, Dysplasia, Osteochondrodysplasia, Pathology and Genetics.
The concepts of his Anatomy study are interwoven with issues in Dwarfism and Short stature.
The Dysplasia study combines topics in areas such as Endocrinology, Radiography and Thanatophoric dysplasia.
His biological study spans a wide range of topics, including Achondrogenesis, Fetus, Achondroplasia and Kniest dysplasia.
His Pathology research incorporates elements of Lethal skeletal dysplasia and Genetic heterogeneity.
His Genetics research is multidisciplinary, incorporating elements of Molecular biology and FLNB.
He most often published in these fields:
- Anatomy (56.79%)
- Dysplasia (36.43%)
- Osteochondrodysplasia (37.86%)
What were the highlights of his more recent work (between 2011-2020)?
- Dysplasia (36.43%)
- Genetics (22.86%)
- Short stature (16.43%)
In recent papers he was focusing on the following fields of study:
The scientist’s investigation covers issues in Dysplasia, Genetics, Short stature, Anatomy and Phenotype.
Ralph S. Lachman combines subjects such as Exome sequencing, Endocrinology and Bioinformatics with his study of Dysplasia.
His study in Polydactyly, Gene, Exome, Genetic heterogeneity and Missense mutation is carried out as part of his Genetics studies.
His Missense mutation study incorporates themes from Locus and Skeletal disorder.
His Short stature research integrates issues from Dystrophy, Disease, Pathology and Retinitis pigmentosa.
His studies deal with areas such as Gestational age and Mr imaging as well as Anatomy.
Between 2011 and 2020, his most popular works were:
- Nosology and classification of genetic skeletal disorders: 2015 revision (333 citations)
- Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA (107 citations)
- Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis (105 citations)
In his most recent research, the most cited papers focused on:
- Mutation
- Gene
- Internal medicine
Ralph S. Lachman focuses on Genetics, Genetic heterogeneity, Exome, Missense mutation and Polydactyly.
Gene, Phenotype, Thanatophoric dysplasia, Fibroblast growth factor receptor 3 and Hypochondroplasia are subfields of Genetics in which his conducts study.
Ralph S. Lachman interconnects Mucopolysaccharidosis Type IVA, Lysosomal storage disease, Immunology, Pathology and Elosulfase alfa in the investigation of issues within Genetic heterogeneity.
His Exome research incorporates themes from Molecular biology and PRKAR1A, Acrodysostosis.
His Missense mutation study combines topics from a wide range of disciplines, such as Internal medicine, Fibroblast growth factor receptor 2, Fibroblast growth factor, Skeletal disorder and Periosteum.
His Polydactyly research also works with subjects such as
- Ciliopathies that intertwine with fields like Flagellum, Compound heterozygosity, Cell biology, Ciliopathy and Ciliogenesis,
- Short rib – polydactyly syndrome which intersects with area such as Intraflagellar transport, Locus heterogeneity, Hedgehog, Hedgehog signaling pathway and Mutation.
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