What is she best known for?
The fields of study she is best known for:
- Gene
- Mutation
- Internal medicine
Laurence Faivre mainly investigates Genetics, Internal medicine, Mutation, Proband and Missense mutation.
Exon, Locus, Genetic heterogeneity, Gene and Haploinsufficiency are among the areas of Genetics where she concentrates her study.
Her Internal medicine study incorporates themes from Gastroenterology, Endocrinology, Oncology and Cardiology.
Her study looks at the relationship between Mutation and topics such as Molecular biology, which overlap with GSK-3, Megalencephaly and Cell cycle.
Her Proband research is multidisciplinary, incorporating elements of Pediatrics, Marfan syndrome and Pathology.
The various areas that Laurence Faivre examines in her Missense mutation study include Bioinformatics, Neutropenia, Frameshift mutation, Mutation and Cobalamin.
Her most cited work include:
- The revised Ghent nosology for the Marfan syndrome (1177 citations)
- Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers (805 citations)
- Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer (406 citations)
What are the main themes of her work throughout her whole career to date?
Her main research concerns Genetics, Internal medicine, Missense mutation, Mutation and Gene.
Phenotype, Exome sequencing, Genetic heterogeneity, Intellectual disability and Microcephaly are subfields of Genetics in which her conducts study.
Her Intellectual disability research incorporates themes from Autism, Pediatrics, Bioinformatics and Medical genetics.
Her Internal medicine research is multidisciplinary, relying on both Gastroenterology, Endocrinology, Oncology and Cardiology.
Her Missense mutation study frequently draws connections between related disciplines such as Haploinsufficiency.
Mutation is closely attributed to Genotype in her research.
She most often published in these fields:
- Genetics (45.61%)
- Internal medicine (16.89%)
- Missense mutation (14.69%)
What were the highlights of her more recent work (between 2017-2021)?
- Genetics (45.61%)
- Exome sequencing (11.84%)
- Missense mutation (14.69%)
In recent papers she was focusing on the following fields of study:
Laurence Faivre spends much of her time researching Genetics, Exome sequencing, Missense mutation, Phenotype and Intellectual disability.
Her is involved in several facets of Genetics study, as is seen by her studies on Gene, Genetic heterogeneity, Candidate gene, Proband and Mutation.
Her Candidate gene study deals with Genotype intersecting with Allele.
Her Missense mutation study combines topics from a wide range of disciplines, such as Loss function, Haploinsufficiency, Neurogenesis, DDX3X and RNA Helicase A.
Her Phenotype research includes themes of Fetus, Mutation, Bioinformatics and Epilepsy.
Her Intellectual disability research incorporates elements of Neurodevelopmental disorder and Hypotonia, Pediatrics, Microcephaly, Short stature.
Between 2017 and 2021, her most popular works were:
- Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations (100 citations)
- Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis. (79 citations)
- Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. (56 citations)
In her most recent research, the most cited papers focused on:
- Gene
- Mutation
- Internal medicine
Laurence Faivre mainly focuses on Genetics, Missense mutation, Exome sequencing, Gene and Intellectual disability.
Her is doing research in Allele, Candidate gene, Genetic heterogeneity, Neurodevelopmental disorder and Sanger sequencing, both of which are found in Genetics.
She works mostly in the field of Missense mutation, limiting it down to topics relating to Ataxia and, in certain cases, Consanguinity and BRAT1.
Laurence Faivre interconnects Retrospective cohort study and Bioinformatics in the investigation of issues within Exome sequencing.
Her Gene study integrates concerns from other disciplines, such as Autism and Family history.
Her work deals with themes such as Craniosynostosis, Medical genetics, X chromosome and Hypotonia, Pediatrics, which intersect with Intellectual disability.
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