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
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.
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.
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.
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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Structural Variation in the Human Genome and its Role in Disease
Paweł Stankiewicz;James R. Lupski.
Annual Review of Medicine (2010)
Genome architecture, rearrangements and genomic disorders
Pawel Stankiewicz;James R. Lupski.
Trends in Genetics (2002)
Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
James R. Lupski;Jeffrey G. Reid;Claudia Gonzaga-Jauregui;David Rio Deiros.
The New England Journal of Medicine (2010)
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes.
James R Lupski;Pawel Stankiewicz.
PLOS Genetics (2005)
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Nicola Brunetti-Pierri;Jonathan S. Berg;Fernando Scaglia;John Belmont.
Nature Genetics (2008)
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
Marwan Shinawi;Pengfei Liu;Sung Hae L Kang;Joseph Shen.
Journal of Medical Genetics (2010)
Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements
Pengfei Liu;Ayelet Erez;Sandesh C.Sreenath Nagamani;Shweta U. Dhar.
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)
Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation.
Pawel Stankiewicz;Arthur L Beaudet.
Current Opinion in Genetics & Development (2007)
Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations.
Paweł Stankiewicz;Partha Sen;Samarth S. Bhatt;Mekayla Storer.
American Journal of Human Genetics (2009)
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