What is he best known for?
The fields of study he is best known for:
His main research concerns Genetics, Mutation, Internal medicine, Gene and Endocrinology.
His study in Locus, Penetrance, Missense mutation, Candidate gene and Proto-Oncogene Proteins c-ret falls within the category of Genetics.
His Mutation research includes elements of Immunology, Gene mapping and Congenital central hypoventilation syndrome.
The study incorporates disciplines such as Gastroenterology, Pediatrics, Overgrowth syndrome and Cardiology in addition to Internal medicine.
His Gene research focuses on Disease and how it connects with DNA sequencing, Systems biology and Common disease-common variant.
The study incorporates disciplines such as Phenotype and Cancer research in addition to Glial cell line-derived neurotrophic factor.
His most cited work include:
- Lamin a truncation in hutchinson-gilford progeria (1073 citations)
- Hirschsprung disease, associated syndromes and genetics: a review (898 citations)
- Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury ( T ) gene family (787 citations)
What are the main themes of his work throughout his whole career to date?
Stanislas Lyonnet mostly deals with Genetics, Internal medicine, Gene, Phenotype and Mutation.
His work on Genetics deals in particular with Locus, Missense mutation, Allele, Genetic heterogeneity and Exome sequencing.
His Locus study combines topics in areas such as Gene mapping, Genetic linkage and Haplotype.
The various areas that Stanislas Lyonnet examines in his Internal medicine study include Gastroenterology, Endocrinology and Cardiology.
Stanislas Lyonnet regularly ties together related areas like Molecular biology in his Gene studies.
His studies link Pathology with Phenotype.
He most often published in these fields:
- Genetics (74.82%)
- Internal medicine (24.47%)
- Gene (20.21%)
What were the highlights of his more recent work (between 2014-2021)?
- Genetics (74.82%)
- Missense mutation (19.15%)
- Phenotype (23.23%)
In recent papers he was focusing on the following fields of study:
His primary areas of investigation include Genetics, Missense mutation, Phenotype, Internal medicine and Mutation.
Exome sequencing, Intellectual disability, Gene, Exome and Allele are the primary areas of interest in his Genetics study.
His Intellectual disability study combines topics from a wide range of disciplines, such as Loss function, Proband, Haploinsufficiency, Genetic heterogeneity and Penetrance.
His Missense mutation research is multidisciplinary, incorporating elements of Pathology, Neurodevelopmental disorder, Cilium, Ciliopathy and Epigenetics.
The concepts of his Phenotype study are interwoven with issues in Kabuki syndrome, Craniofacial and Spliceosome.
His studies deal with areas such as Gastroenterology, Endocrinology and Cardiology as well as Internal medicine.
Between 2014 and 2021, his most popular works were:
- Targeted therapy in patients with PIK3CA-related overgrowth syndrome (142 citations)
- Targeted therapy in patients with PIK3CA-related overgrowth syndrome (142 citations)
- Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders (78 citations)
In his most recent research, the most cited papers focused on:
Stanislas Lyonnet mainly focuses on Genetics, Phenotype, Mutation, Missense mutation and Genome-wide association study.
His Allele, Medical genetics, Microcephaly, Intellectual disability and Zebrafish study are his primary interests in Genetics.
His Phenotype study incorporates themes from Spliceosome and Pathology.
His Mutation research includes elements of Kabuki syndrome, Cerebellar ataxia and PAX6.
His work in Cerebellar ataxia addresses issues such as Endocrinology, which are connected to fields such as Internal medicine.
His research investigates the link between Genome-wide association study and topics such as Exome that cross with problems in Bioinformatics, Autism, Autism spectrum disorder, Penetrance and Genetic heterogeneity.
This overview was generated by a machine learning system which analysed the scientist’s
body of work. If you have any feedback, you can
contact us
here.
