What is he best known for?
The fields of study he is best known for:
His main research concerns Genetics, Mutation, Missense mutation, Frameshift mutation and Osteochondrodysplasia.
Geert Mortier combines subjects such as Molecular biology and Autism with his study of Genetics.
In general Mutation, his work in Exome sequencing is often linked to Skeletal biology linking many areas of study.
His research integrates issues of Disease gene identification, Endocrinology, Internal medicine, Tubulin and X-linked recessive inheritance in his study of Missense mutation.
His Frameshift mutation research includes themes of Genotype, Nonsense mutation, Genetic heterogeneity and X-inactivation, Skewed X-inactivation.
His Osteochondrodysplasia research is multidisciplinary, incorporating elements of Molecular pathogenesis, Multiple epiphyseal dysplasia and MEDLINE.
His most cited work include:
- qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data (2808 citations)
- Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes (609 citations)
- Nosology and classification of genetic skeletal disorders : 2010 revision (539 citations)
What are the main themes of his work throughout his whole career to date?
The scientist’s investigation covers issues in Genetics, Mutation, Pathology, Missense mutation and Gene.
His biological study spans a wide range of topics, including Osteochondrodysplasia and Molecular biology.
Geert Mortier has included themes like Internal medicine and Endocrinology in his Mutation study.
Geert Mortier is interested in Dysplasia, which is a field of Pathology.
His work carried out in the field of Dysplasia brings together such families of science as Mutation, Anatomy and Short stature.
His studies deal with areas such as Proband and Frameshift mutation as well as Missense mutation.
He most often published in these fields:
- Genetics (44.48%)
- Mutation (12.88%)
- Pathology (11.96%)
What were the highlights of his more recent work (between 2015-2021)?
- Genetics (44.48%)
- Gene (11.04%)
- Missense mutation (11.35%)
In recent papers he was focusing on the following fields of study:
His scientific interests lie mostly in Genetics, Gene, Missense mutation, Internal medicine and Dysplasia.
His work on Short stature expands to the thematically related Genetics.
His Gene course of study focuses on Melorheostosis and Buschke–Ollendorff syndrome, Osteopoikilosis and Computational biology.
The various areas that Geert Mortier examines in his Missense mutation study include Genetic disorder, Brachydactyly and Proband.
His Internal medicine study also includes fields such as
- Endocrinology that intertwine with fields like Mutation, Sclerostin, Wnt signaling pathway and Nonsense mutation,
- Allele that intertwine with fields like Sequence, Nosology and Massive parallel sequencing.
His Dysplasia research is multidisciplinary, relying on both Musculoskeletal disease, Bone remodeling, Radiography and Imaging diagnosis.
Between 2015 and 2021, his most popular works were:
- Nosology and classification of genetic skeletal disorders: 2019 revision. (126 citations)
- Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia (71 citations)
- Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 (65 citations)
In his most recent research, the most cited papers focused on:
The scientist’s investigation covers issues in Genetics, Mutation, Genetic heterogeneity, Allele and Pathology.
Genetics and MYO7A are two areas of study in which Geert Mortier engages in interdisciplinary research.
His Mutation research integrates issues from Endocrinology, Aortic aneurysm and Loeys–Dietz syndrome, Internal medicine, Marfan syndrome.
His studies in Genetic heterogeneity integrate themes in fields like Multiplex and Brugada syndrome.
Geert Mortier has researched Allele in several fields, including Nosology, Computational biology and Massive parallel sequencing.
Geert Mortier combines subjects such as Muscle weakness, Bone remodeling and Weakness with his study of Pathology.
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