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.
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.
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.
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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A Systematic Analysis of Human Disease-Associated Gene Sequences In Drosophila melanogaster
Lawrence T. Reiter;Lorraine Potocki;Sam Chien;Michael Gribskov.
Genome Research (2001)
Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome
Ken Shiung Chen;Prasad Manian;Thearith Koeuth;Lorraine Potocki.
Nature Genetics (1997)
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
Frank Greenberg;Richard A. Lewis;Lorraine Potocki;Daniel Glaze.
American Journal of Medical Genetics (1996)
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype.
Lorraine Potocki;Weimin Bi;Diane Treadwell-Deering;Claudia M. B. Carvalho.
American Journal of Human Genetics (2007)
Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.
Lorraine Potocki;Ken-Shiung Chen;Sung-Sup Park;Doreen E. Osterholm.
Nature Genetics (2000)
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
A. Jordanova;P. De Jonghe;C. F. Boerkoel;H. Takashima.
Detection of clinically relevant exonic copy‐number changes by array CGH
Philip M. Boone;Carlos A. Bacino;Chad A. Shaw;Patricia A. Eng.
Human Mutation (2010)
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism
Christian P Schaaf;Manuel L Gonzalez-Garay;Fan Xia;Lorraine Potocki.
Nature Genetics (2013)
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
S. Ben-Shachar;B. Lanpher;J. R. German;M. Qasaymeh.
Journal of Medical Genetics (2009)
Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome
Lorraine Potocki;Daniel Glaze;Dun Xian Tan;Sung Sup Park.
Journal of Medical Genetics (2000)
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