CombiMatrix Corp. CombiMatrix is a clinical diagnostic laboratory specializing in cytogenomic testing for prenatal diagnosis, miscarriage analysis, and pediatric developmental disorders. As a full-scale cytogenetic and cytogenomic laboratory, CombiMatrix offers chromosomal microarray analysis, standard and customized FISH, and high resolution karyotyping to help clinicians better care for their patients.In 2012 CombiMatrix shifted its focus from providing oncology genetic testing to developmental testing. Their focus is cytogenomic miscarriage analysis, prenatal analysis and postnatal/pediatric analysis. Wikipedia.
Kalyuzhnaya M.G.,University of Washington |
Beck D.A.C.,University of Washington |
Suciu D.,CombiMatrix |
Pozhitkov A.,Max Planck Institute for Evolutionary Biology |
And 2 more authors.
ISME Journal | Year: 2010
Methylotrophs, organisms able to gain energy and carbon from compounds containing no carbon-carbon bonds, such as methane, methanol and methylated amines, are widespread in nature. However, knowledge of their nutrient preference and their metabolism is mostly based on experiments with cultures grown in defined laboratory conditions. Here, we use transcriptomics to explore the activity of one methylotroph, Methyotenera mobilis in its natural environment, lake sediment from which it has been previously isolated. Cells encapsulated in incubation cassettes were exposed to sediment conditions, with or without supplementation with a carbon/energy source (methylamine), and gene-expression patterns were compared for those cells to patterns for cells incubated in a defined medium supplemented with methylamine. A few specific trends in gene expression were observed at in situ conditions that may be of environmental significance, as follows. Expression of genes for the linear formaldehyde oxidation pathway linked to tetrahydromethanopterin increased, suggesting an important role for this pathway in situ, in contrast to laboratory condition culture, in which the cyclic ribulose monophosphate pathway seemed to be the major route for formaldehyde oxidation. Along with the ribulose monophosphate cycle that is also a major pathway for assimilating C 1 units, the methylcitric acid cycle seemd to be important in situ, suggesting that multicarbon compounds may be the natural carbon and/or energy substrates for M. mobilis, challenging the notion of an obligately methylotrophic lifestyle for this bacterium. We also detected a major switch in expression of genes responsible for the mode of motility between different conditions: from flagellum-enabled motility in defined medium to in situ expression of pili known to be involved in twitching motility and adherence. Overall, this study offers a novel approach for gaining insights into the lifestyle of individual microbes in their native environments. © 2010 International Society for Microbial Ecology All rights reserved. Source
Dasouki M.J.,University of Kansas |
Youngs E.L.,University of Kansas |
Current Genomics | Year: 2011
Obesity in humans is a complex polygenic trait with high inter-individual heritability estimated at 40-70%. Candidate gene, DNA linkage and genome-wide association studies (GWAS) have allowed for the identification of a large set of genes and genomic regions associated with obesity. Structural chromosome abnormalities usually result in congenital anomalies, growth retardation and developmental delay. Occasionally, they are associated with hyperphagia and obesity rather than growth delay. We report four new individuals with structural chromosome abnormalities involving 10q22.3-23.2, 16p11.2 and Xq27.1-q28 chromosomal regions with early childhood obesity and developmental delay. We also searched and summarized the literature for structural chromosome abnormalities reported in association with childhood obesity. ©2011 Bentham Science Publishers Ltd. Source
Bartels J.,Washington University in St. Louis |
Lu P.,University of Texas at Dallas |
Maurer K.,CombiMatrix |
Walker A.V.,University of Texas at Dallas |
Moeller K.D.,Washington University in St. Louis
Langmuir | Year: 2011
Site-selective Cu(I)-catalyzed reactions have been developed on microelectrode arrays. The reactions are confined to preselected electrodes on the arrays using oxygen as the confining agent. Conditions initially developed for the Cu(I)-catalyzed click reaction have proven general for the coupling of amine, alcohol, and sulfur nucleophiles to both vinyl and aryl iodides. Differences between reactions run on 1-K arrays and reactions run on 12-K arrays can be attributed to the 1-K array reactions being divided cell electrolyses and the 12-K array reactions being undivided cell electrolyses. Reactions on the 12-K arrays benefit from the use of a non-sugar-derived porous reaction layer for the attachment of substrates to the surface of the electrodes. The reactions are sensitive to the nature of the ligand used for the Cu catalyst. © 2011 American Chemical Society. Source
Roberts J.L.,University of Kansas Medical Center |
Hovanes K.,CombiMatrix |
Dasouki M.,University of Kansas Medical Center |
Dasouki M.,King Faisal Specialist Hospital And Research Center |
And 2 more authors.
Gene | Year: 2014
Chromosomal microarray analysis is now commonly used in clinical practice to identify copy number variants (CNVs) in the human genome. We report our experience with the use of the 105. K and 180. K oligonucleotide microarrays in 215 consecutive patients referred with either autism or autism spectrum disorders (ASD) or developmental delay/learning disability for genetic services at the University of Kansas Medical Center during the past 4. years (2009-2012). Of the 215 patients [140 males and 75 females (male/female ratio. = 1.87); 65 with ASD and 150 with learning disability], abnormal microarray results were seen in 45 individuals (21%) with a total of 49 CNVs. Of these findings, 32 represented a known diagnostic CNV contributing to the clinical presentation and 17 represented non-diagnostic CNVs (variants of unknown significance). Thirteen patients with ASD had a total of 14 CNVs, 6 CNVs recognized as diagnostic and 8 as non-diagnostic. The most common chromosome involved in the ASD group was chromosome 15. For those with a learning disability, 32 patients had a total of 35 CNVs. Twenty-six of the 35 CNVs were classified as a known diagnostic CNV, usually a deletion (n. = 20). Nine CNVs were classified as an unknown non-diagnostic CNV, usually a duplication (n. = 8). For the learning disability subgroup, chromosomes 2 and 22 were most involved. Thirteen out of 65 patients (20%) with ASD had a CNV compared with 32 out of 150 patients (21%) with a learning disability. The frequency of chromosomal microarray abnormalities compared by subject group or gender was not statistically different. A higher percentage of individuals with a learning disability had clinical findings of seizures, dysmorphic features and microcephaly, but not statistically significant. While both groups contained more males than females, a significantly higher percentage of males were present in the ASD group. © 2013 Elsevier B.V. Source
Hu L.,Washington University in St. Louis |
Stuart M.,Washington University in St. Louis |
Tian J.,Washington University in St. Louis |
Maurer K.,CombiMatrix |
And 2 more authors.
Journal of the American Chemical Society | Year: 2010
Site-selective Pd(0)-catalyzed reactions have been developed to functionalize a microelectrode array. Heck, Suzuki, and allylation reactions have all been accomplished. The reactions are compatible with both 1K and 12K arrays and work best when a nonsugar porous reaction layer is used. Suzuki reactions are faster than the Heck reactions and thus require more careful control of the reactions in order to maintain confinement. The allylation reaction requires a different confining agent than the Heck and Suzuki reactions but can be accomplished nicely with quinone as an oxidant for Pd(0). © 2010 American Chemical Society. Source