What is he best known for?
The fields of study he is best known for:
Pawel Stankiewicz focuses on Genetics, Comparative genomic hybridization, Gene duplication, Copy-number variation and Genome.
Pawel Stankiewicz performs multidisciplinary studies into Genetics and Non-allelic homologous recombination in his work.
His Comparative genomic hybridization study also includes
- Cytogenetics which connect with Clinical significance,
- Microarray which is related to area like Fluorescence in situ hybridization.
His studies deal with areas such as Autism, Microcephaly, Macrocephaly, Hypotonia and Epilepsy as well as Gene duplication.
His Copy-number variation research incorporates elements of Genetic counseling and Proband.
His Genome study integrates concerns from other disciplines, such as Gene rearrangement and Exon.
His most cited work include:
- Structural Variation in the Human Genome and its Role in Disease (890 citations)
- Genome architecture, rearrangements and genomic disorders (791 citations)
- Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy (665 citations)
What are the main themes of his work throughout his whole career to date?
Pawel Stankiewicz mainly focuses on Genetics, Comparative genomic hybridization, Copy-number variation, Gene duplication and Gene.
His works in Breakpoint, Chromosome, Genome, Human genome and Phenotype are all subjects of inquiry into Genetics.
His study focuses on the intersection of Breakpoint and fields such as Chromosome breakage with connections in the field of Chromosome Breakpoints.
His Comparative genomic hybridization study incorporates themes from Cytogenetics, Microarray, Exon, Human genetics and Candidate gene.
He interconnects Proband, Intellectual disability and Bioinformatics in the investigation of issues within Copy-number variation.
As part of the same scientific family, Pawel Stankiewicz usually focuses on Gene duplication, concentrating on Segmental duplication and intersecting with Low copy repeats.
He most often published in these fields:
- Genetics (86.88%)
- Comparative genomic hybridization (22.34%)
- Copy-number variation (20.21%)
What were the highlights of his more recent work (between 2016-2021)?
- Genetics (86.88%)
- Gene (19.86%)
- Exome sequencing (9.22%)
In recent papers he was focusing on the following fields of study:
Pawel Stankiewicz spends much of his time researching Genetics, Gene, Exome sequencing, Copy-number variation and Haploinsufficiency.
His study in Human genetics, Human genome, Proband, Candidate gene and Neurodevelopmental disorder falls under the purview of Genetics.
His Copy-number variation research includes themes of Gene duplication, Structural variation, Allele and Germline.
His research integrates issues of Microdeletion syndrome and Breakpoint in his study of Gene duplication.
His study in Allele is interdisciplinary in nature, drawing from both Comparative genomic hybridization and Genotype.
Pawel Stankiewicz has researched Haploinsufficiency in several fields, including Chromatin, Speech delay and Epigenetics.
Between 2016 and 2021, his most popular works were:
- A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures (60 citations)
- Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. (56 citations)
- An Organismal CNV Mutator Phenotype Restricted to Early Human Development (46 citations)
In his most recent research, the most cited papers focused on:
His scientific interests lie mostly in Genetics, Copy-number variation, Genome, Haploinsufficiency and Gene.
His Genetics study is mostly concerned with Neurodevelopmental disorder, Zebrafish, Microcephaly, Point mutation and Phenotype.
The various areas that he examines in his Copy-number variation study include Structural variation, Compound heterozygosity, Breakpoint, Exome and Gene duplication.
His Breakpoint research includes elements of Alu element and Short Interspersed Element.
His primary area of study in Genome is in the field of Human genome.
His biological study spans a wide range of topics, including Missense mutation, Ataxia, Cerebellar ataxia, Neurodegeneration and Speech delay.
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