What is he best known for?
The fields of study he is best known for:
Erik A. Sistermans mainly investigates Genetics, Molecular biology, Gene, Mutation and Clinical significance.
His is involved in several facets of Genetics study, as is seen by his studies on Locus, Phenotype, Human genome, Genome and Microcephaly.
His Genome study combines topics from a wide range of disciplines, such as Fluorescence in situ hybridization and Gene expression profiling.
His Molecular biology study integrates concerns from other disciplines, such as Haploinsufficiency, Kleefstra Syndrome, Null allele and Hypertelorism.
Erik A. Sistermans interconnects Bone density, Osteoporosis, Genetic variation and Bone remodeling in the investigation of issues within Mutation.
Cohort, Copy-number variation, Intellectual disability, Bioinformatics and Internal medicine is closely connected to DNA microarray in his research, which is encompassed under the umbrella topic of Clinical significance.
His most cited work include:
- Germline KRAS mutations cause Noonan syndrome (593 citations)
- Diagnostic Genome Profiling in Mental Retardation (526 citations)
- A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism (368 citations)
What are the main themes of his work throughout his whole career to date?
Erik A. Sistermans mostly deals with Genetics, Gene, Mutation, Molecular biology and Bioinformatics.
As part of his studies on Genetics, Erik A. Sistermans often connects relevant areas like Developmental disorder.
Erik A. Sistermans integrates many fields, such as Gene and Proteolipid protein 1, in his works.
His work deals with themes such as Prenatal diagnosis and Medical genetics, which intersect with Bioinformatics.
His Medical genetics study incorporates themes from Genome and Genetic testing.
His Phenotype research focuses on Intellectual disability and how it connects with Autism, Cohort and Copy-number variation.
He most often published in these fields:
- Genetics (46.67%)
- Gene (18.00%)
- Mutation (15.33%)
What were the highlights of his more recent work (between 2015-2021)?
- Genetics (46.67%)
- Obstetrics (6.00%)
- Trisomy (6.00%)
In recent papers he was focusing on the following fields of study:
His primary areas of study are Genetics, Obstetrics, Trisomy, Fetus and Pregnancy.
His studies in Genetics integrate themes in fields like Autism, Disease and Family history.
His biological study deals with issues like Massive parallel sequencing, which deal with fields such as Miscarriage, Chorionic villus sampling and Chorionic villi.
In his work, Cell-free fetal DNA and Down syndrome is strongly intertwined with Confined placental mosaicism, which is a subfield of Trisomy.
His work on Prenatal screening is typically connected to Fraction as part of general Fetus study, connecting several disciplines of science.
His Gene study frequently draws connections between adjacent fields such as Molecular biology.
Between 2015 and 2021, his most popular works were:
- Guidelines for diagnostic next-generation sequencing. (278 citations)
- Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects (82 citations)
- Trial by Dutch laboratories for evaluation of non-invasive prenatal testing.: Part I-clinical impact (82 citations)
In his most recent research, the most cited papers focused on:
Genetics, Pregnancy, Trisomy, Prenatal diagnosis and Exome sequencing are his primary areas of study.
Genetics connects with themes related to Autism in his study.
His studies deal with areas such as Obstetrics, Predictive value, Non invasive and Confined placental mosaicism as well as Trisomy.
The study incorporates disciplines such as Genome, Sequence analysis, DNA and Nucleosome in addition to Prenatal diagnosis.
His work focuses on many connections between Exome sequencing and other disciplines, such as Penetrance, that overlap with his field of interest in Genotype, Proband and Genetic Carrier Screening.
In his study, Medical genetics is strongly linked to Copy-number variation, which falls under the umbrella field of Phenotype.
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