What is he best known for?
The fields of study he is best known for:
His scientific interests lie mostly in Genetics, Molecular biology, Bioinformatics, Comparative genomic hybridization and Copy-number variation.
Genome, Human genome, Phenotype, Chromosomal translocation and Gene mapping are the primary areas of interest in his Genetics study.
Joris Vermeesch has researched Molecular biology in several fields, including Complementary DNA, Gene, Exon, Centromere and Glypican.
Joris Vermeesch has included themes like Prenatal diagnosis and Human genetics in his Bioinformatics study.
Joris Vermeesch interconnects Preimplantation genetic diagnosis and Karyotype, Ring chromosome in the investigation of issues within Comparative genomic hybridization.
His Copy-number variation research incorporates themes from Subtelomere, Microcephaly and Unknown Significance.
His most cited work include:
- Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports (353 citations)
- Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. (149 citations)
- Guidelines for molecular karyotyping in constitutional genetic diagnosis. (144 citations)
What are the main themes of his work throughout his whole career to date?
Joris Vermeesch focuses on Genetics, Karyotype, Computational biology, Copy-number variation and Gene.
His study involves Chromosome, Phenotype, Gene duplication, Breakpoint and Genome, a branch of Genetics.
Joris Vermeesch is interested in Human genome, which is a field of Genome.
His studies in Karyotype integrate themes in fields like Chromosomal translocation, Trisomy, Molecular biology, Cytogenetics and Fluorescence in situ hybridization.
The study incorporates disciplines such as Prenatal diagnosis, Comparative genomic hybridization and Bioinformatics in addition to Copy-number variation.
He most often published in these fields:
- Genetics (50.54%)
- Karyotype (10.22%)
- Computational biology (9.86%)
What were the highlights of his more recent work (between 2015-2021)?
- Genetics (50.54%)
- Copy-number variation (10.04%)
- Genome (8.24%)
In recent papers he was focusing on the following fields of study:
His primary areas of study are Genetics, Copy-number variation, Genome, Gene and Computational biology.
His study in Allele, Breakpoint, Locus, Missense mutation and Human genetics are all subfields of Genetics.
His research investigates the connection with Copy-number variation and areas like Intellectual disability which intersect with concerns in Penetrance, Genetic counseling and Intelligence quotient.
In the subject of general Genome, his work in Human genome is often linked to Segmental duplication, thereby combining diverse domains of study.
His work in the fields of Gene, such as Frameshift mutation, Sequence assembly and Chromosome, intersects with other areas such as In patient.
The Computational biology study combines topics in areas such as Preimplantation genetic diagnosis, Contig and Genomic sequencing.
Between 2015 and 2021, his most popular works were:
- The why, the how and the when of PGS 2.0: current practices and expert opinions of fertility specialists, molecular biologists, and embryologists. (85 citations)
- Improved reference genome for the domestic horse increases assembly contiguity and composition (47 citations)
- Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. (45 citations)
In his most recent research, the most cited papers focused on:
Joris Vermeesch mostly deals with Genetics, Copy-number variation, Gene, Intellectual disability and Allele.
His DiGeorge syndrome, Locus, Human genetics, Low copy repeats and Sequence investigations are all subjects of Genetics research.
His Copy-number variation research is multidisciplinary, relying on both Microarray, Comparative genomic hybridization and Genotype.
His Comparative genomic hybridization study which covers SNP array that intersects with Genome.
His research on Intellectual disability also deals with topics like
- Autism spectrum disorder and related Neurodevelopmental disorder, Microdeletion syndrome, Short stature and Medical genetics,
- Intelligence quotient and related Internal medicine and Endocrinology,
- Increased risk and Microarray analysis techniques most often made with reference to Schizophrenia.
His Allele study combines topics from a wide range of disciplines, such as MED12, MECP2 and X-inactivation, X chromosome, Skewed X-inactivation.
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