What is she best known for?
The fields of study she is best known for:
Martine Le Merrer spends much of her time researching Genetics, Mutation, Gene, Exon and Frameshift mutation. Martine Le Merrer performs multidisciplinary study in Genetics and Russell-Silver Syndrome in her work. Her work carried out in the field of Mutation brings together such families of science as Molecular genetics, Myositis ossificans, Pathology and Ciliopathy.
Martine Le Merrer studied Gene and Molecular biology that intersect with Leukemia, Locus, Allele, Crisponi syndrome and Camptodactyly. Her Exon research is multidisciplinary, relying on both Exome sequencing, Nonsense, Hajdu–Cheney syndrome and Skeletal disorder. Her study focuses on the intersection of Proband and fields such as Osteochondrodysplasia with connections in the field of Internal medicine and Endocrinology.
Her most cited work include:
- Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome (417 citations)
- Fibrodysplasia ossificans progressiva (289 citations)
- Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6 (196 citations)
What are the main themes of her work throughout her whole career to date?
Genetics, Mutation, Missense mutation, Dysplasia and Pathology are her primary areas of study. Her research ties Osteochondrodysplasia and Genetics together. Her Mutation course of study focuses on Skeletal disorder and Hajdu–Cheney syndrome.
Her work in the fields of Missense mutation, such as Nonsense mutation, intersects with other areas such as Hypophosphatasia. Her Dysplasia study also includes fields such as
- Short stature together with Anatomy,
- Mutation, which have a strong connection to Genetic testing. Her research investigates the connection between Pathology and topics such as Prenatal diagnosis that intersect with problems in Infantile cortical hyperostosis.
She most often published in these fields:
- Genetics (56.76%)
- Mutation (28.83%)
- Missense mutation (19.82%)
What were the highlights of her more recent work (between 2011-2020)?
- Genetics (56.76%)
- Dysplasia (18.92%)
- Mutation (28.83%)
In recent papers she was focusing on the following fields of study:
Her scientific interests lie mostly in Genetics, Dysplasia, Mutation, Missense mutation and Pediatrics. Her study in Proband, Phenotype, Human genetics, Gene and Sanger sequencing are all subfields of Genetics. Her biological study spans a wide range of topics, including Dermatology and Genetic heterogeneity.
Her study in Mutation is interdisciplinary in nature, drawing from both Ossification and Stop codon. Her Missense mutation study integrates concerns from other disciplines, such as Exome sequencing, Bioinformatics and Pathology. The study incorporates disciplines such as Heterozygote advantage, Internal medicine, Intellectual disability and Endocrinology in addition to Pediatrics.
Between 2011 and 2020, her most popular works were:
- Generalized Arterial Calcification of Infancy and Pseudoxanthoma Elasticum Can Be Caused by Mutations in Either ENPP1 or ABCC6 (196 citations)
- Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. (126 citations)
- Cantú Syndrome Is Caused by Mutations in ABCC9 (104 citations)
In her most recent research, the most cited papers focused on:
- Mutation
- Gene
- Internal medicine
Her primary areas of study are Genetics, Pediatrics, Dysplasia, Multiple epiphyseal dysplasia and Ciliopathy. Her research is interdisciplinary, bridging the disciplines of Osteochondrodysplasia and Genetics. Her Dysplasia research incorporates elements of Dwarfism, Genetic heterogeneity and Achondroplasia.
Her Multiple epiphyseal dysplasia study combines topics in areas such as Spondyloepiphyseal dysplasia congenita and Collagen disorder. Her work deals with themes such as Sanger sequencing, Intraflagellar transport, Retinitis pigmentosa and Ciliogenesis, which intersect with Ciliopathy. Her research integrates issues of Transport protein, Haploinsufficiency, Pitt–Hopkins syndrome and Bioinformatics in her study of Mutation.
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