What is she best known for?
The fields of study she is best known for:
Lorraine Potocki mainly investigates Genetics, Smith–Magenis syndrome, Retinoic acid induced 1, Gene and Exome sequencing.
Her works in Candidate gene, Phenotype, Gene duplication, Human genetics and Haploinsufficiency are all subjects of inquiry into Genetics.
Her Candidate gene study deals with Copy-number variation intersecting with Comparative genomic hybridization.
Her work focuses on many connections between Gene duplication and other disciplines, such as Potocki–Lupski syndrome, that overlap with her field of interest in Homologous recombination, Unequal crossing over, Failure to thrive and dup.
The study incorporates disciplines such as Microdeletion syndrome, Chromosome, Genetic linkage and Pineal gland in addition to Smith–Magenis syndrome.
The concepts of her Exome sequencing study are interwoven with issues in Pediatrics, Intensive care unit and Pathology.
Her most cited work include:
- A Systematic Analysis of Human Disease-Associated Gene Sequences In Drosophila melanogaster (651 citations)
- Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome (345 citations)
- Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. (293 citations)
What are the main themes of her work throughout her whole career to date?
The scientist’s investigation covers issues in Genetics, Smith–Magenis syndrome, Pediatrics, Intellectual disability and Haploinsufficiency.
In her research, Copy-number variation is intimately related to Bioinformatics, which falls under the overarching field of Genetics.
Her studies deal with areas such as Microdeletion syndrome, Chromosome, Chromosome 17, Gene mapping and Retinoic acid induced 1 as well as Smith–Magenis syndrome.
Her Pediatrics research incorporates themes from Proband and Potocki–Lupski syndrome.
Her Intellectual disability research incorporates elements of Neurodevelopmental disorder, Autism, Autism spectrum disorder and Potocki–Shaffer syndrome.
Her studies deal with areas such as Cancer research, Locus and Candidate gene as well as Haploinsufficiency.
She most often published in these fields:
- Genetics (72.73%)
- Smith–Magenis syndrome (21.43%)
- Pediatrics (24.68%)
What were the highlights of her more recent work (between 2017-2021)?
- Genetics (72.73%)
- Hypotonia (18.18%)
- Pediatrics (24.68%)
In recent papers she was focusing on the following fields of study:
Her primary areas of investigation include Genetics, Hypotonia, Pediatrics, Intellectual disability and Haploinsufficiency.
Her Genetics study frequently draws parallels with other fields, such as Tuberous sclerosis.
Her biological study spans a wide range of topics, including Phenotype, Compound heterozygosity, Male Phenotype, Ataxia and Transforming growth factor.
The concepts of her Pediatrics study are interwoven with issues in Melatonin, Genetic disorder, Potocki–Lupski syndrome and Allele name.
Lorraine Potocki interconnects Neurodevelopmental disorder, Regret, Cerebellar hypoplasia, Speech delay and Human genetics in the investigation of issues within Intellectual disability.
Her studies in Haploinsufficiency integrate themes in fields like Congenital diaphragmatic hernia, Hypoplasia, Diaphragm and Agenesis.
Between 2017 and 2021, her most popular works were:
- IRF2BPL Is Associated with Neurological Phenotypes. (33 citations)
- Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. (33 citations)
- Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification. (22 citations)
In her most recent research, the most cited papers focused on:
Lorraine Potocki mostly deals with Hypotonia, Molecular biology, Phenotype, Genetics and Missense mutation.
Her study in Hypotonia is interdisciplinary in nature, drawing from both Neurodevelopmental disorder and Intellectual disability.
Her work carried out in the field of Neurodevelopmental disorder brings together such families of science as CACNB4, Haploinsufficiency, Chromatin remodeling and Speech delay.
The various areas that Lorraine Potocki examines in her Molecular biology study include Histone H3, Acetylation, Histone Acetyltransferases and ATP5D.
Her Phenotype research is within the category of Gene.
Her Missense mutation study incorporates themes from Ataxia, Leukoencephalopathy and Proband.
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