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 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.
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.
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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Nosology and classification of genetic skeletal disorders : 2010 revision
Matthew L. Warman;Valerie Cormier-Daire;Christine Hall;Deborah Krakow;Deborah Krakow.
American Journal of Medical Genetics Part A (2011)
Nosology and classification of genetic skeletal disorders: 2015 revision
Luisa Bonafe;Valerie Cormier-Daire;Christine Hall;Ralph Lachman.
American Journal of Medical Genetics Part A (2015)
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
Jan Hellemans;Olena Preobrazhenska;Andy Willaert;Philippe Debeer.
Nature Genetics (2004)
Nosology and classification of genetic skeletal disorders: 2019 revision.
Geert R Mortier;Daniel H Cohn;Valerie Cormier-Daire;Christine Hall.
American Journal of Medical Genetics Part A (2019)
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders
Zornitza Stark;Tiong Y. Tan;Belinda Chong;Gemma R. Brett.
Genetics in Medicine (2016)
Amelogenesis imperfecta: a classification and catalogue for the 21st century.
M. J. Aldred;R. Savarirayan;R. Savarirayan;P. J. M. Crawford.
Oral Diseases (2003)
Zornitza Stark;Ravi Savarirayan.
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions
Tiong Yang Tan;Oliver James Dillon;Zornitza Stark;Deborah Schofield;Deborah Schofield.
JAMA Pediatrics (2017)
Mutations in PYCR1 cause cutis laxa with progeroid features
Bruno Reversade;Nathalie Escande-Beillard;Aikaterini Dimopoulou;Bjorn Fischer.
Nature Genetics (2009)
Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype
Simone Martinelli;Alessandro De Luca;Emilia Stellacci;Cesare Rossi.
American Journal of Human Genetics (2010)
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