What is he best known for?
The fields of study he is best known for:
- Mutation
- Gene
- Internal medicine
Ravi Savarirayan mainly focuses on Genetics, Mutation, Pediatrics, Missense mutation and Kabuki syndrome.
Genetics is represented through his Frameshift mutation, Exon, Germline mutation, Genetic heterogeneity and Phenotype research.
His biological study spans a wide range of topics, including Osteochondrodysplasia, Glypican 3 and Spinal osteoarthropathy.
His work carried out in the field of Pediatrics brings together such families of science as Exome sequencing, Osteopetrosis, Pulmonology and Medical genetics.
His Missense mutation research incorporates elements of Cilium, Ciliogenesis, Haploinsufficiency and Compound heterozygosity.
His research integrates issues of Hypertrichosis, White and Psychoanalysis in his study of Kabuki syndrome.
His most cited work include:
- Nosology and classification of genetic skeletal disorders : 2010 revision (539 citations)
- Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. (342 citations)
- Nosology and classification of genetic skeletal disorders: 2015 revision (333 citations)
What are the main themes of his work throughout his whole career to date?
His primary scientific interests are in Genetics, Pediatrics, Pathology, Dysplasia and Achondroplasia.
His Mutation, Phenotype, Missense mutation, Gene and Nonsense mutation study are his primary interests in Genetics.
His studies deal with areas such as Exon, Haploinsufficiency and Short stature as well as Mutation.
His study in Pediatrics is interdisciplinary in nature, drawing from both Craniosynostosis, Intellectual disability and Medical genetics.
In his study, Surgery is inextricably linked to Internal medicine, which falls within the broad field of Pathology.
The study incorporates disciplines such as Osteochondrodysplasia and Anatomy in addition to Dysplasia.
He most often published in these fields:
- Genetics (37.40%)
- Pediatrics (23.98%)
- Pathology (21.54%)
What were the highlights of his more recent work (between 2017-2021)?
- Achondroplasia (15.45%)
- Pediatrics (23.98%)
- Dysplasia (19.11%)
In recent papers he was focusing on the following fields of study:
Ravi Savarirayan spends much of his time researching Achondroplasia, Pediatrics, Dysplasia, Vosoritide and Short stature.
The concepts of his Achondroplasia study are interwoven with issues in Internal medicine, Confidence interval and Open label.
Ravi Savarirayan focuses mostly in the field of Pediatrics, narrowing it down to topics relating to Massive parallel sequencing and, in certain cases, Nosology and Computational biology.
He combines subjects such as Allele and Intensive care medicine with his study of Dysplasia.
His Short stature research incorporates elements of Analysis of variance and Physical therapy.
His research investigates the link between Gene and topics such as Osteogenesis imperfecta that cross with problems in Mutation.
Between 2017 and 2021, his most popular works were:
- Nosology and classification of genetic skeletal disorders: 2019 revision. (126 citations)
- C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia (45 citations)
- Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing (31 citations)
In his most recent research, the most cited papers focused on:
- Mutation
- Gene
- Internal medicine
His main research concerns Pediatrics, Dysplasia, Massive parallel sequencing, Allele and Achondroplasia.
His Dysplasia study which covers Short stature that intersects with DNA repair, Zebrafish, Pathology, Homologous chromosome and Hand deformity.
His work carried out in the field of Allele brings together such families of science as Exome sequencing, Nosology and Computational biology.
To a larger extent, Ravi Savarirayan studies Genetics with the aim of understanding Exome sequencing.
His Genetics research incorporates themes from Aplasia cutis congenita and Cohort.
His study explores the link between Achondroplasia and topics such as Internal medicine that cross with problems in Activities of daily living.
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