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2. Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.

Author

Godler, David E, Inaba, Yoshimi, Schwartz, Charles E, Bui, Quang M, Shi, Elva Z, Li, Xin, Herlihy, Amy S, Skinner, Cindy, Hagerman, Randi J, Francis, David, Amor, David J, Metcalfe, Sylvia A, Hopper, John L, and Slater, Howard R

Subjects
Chromosomes, Human, X, Saliva, Humans, Fragile X Syndrome, Aneuploidy, DNA, DNA Methylation, Gene Expression, CpG Islands, Nucleic Acid Denaturation, Introns, Exons, Adolescent, Adult, Aged, Aged, 80 and over, Middle Aged, Child, Child, Preschool, Infant, Infant, Newborn, Female, Male, X Chromosome Inactivation, Fragile X Mental Retardation Protein, and over, Preschool, Chromosomes, Human, X, Newborn, Biochemistry and Cell Biology, Immunology
Abstract

Methylation of the fragile X mental retardation 1 (FMR1) exon 1/intron 1 boundary positioned fragile X related epigenetic element 2 (FREE2), reveals skewed X-chromosome inactivation (XCI) in fragile X syndrome full mutation (FM: CGG > 200) females. XCI skewing has been also linked to abnormal X-linked gene expression with the broader clinical impact for sex chromosome aneuploidies (SCAs). In this study, 10 FREE2 CpG sites were targeted using methylation specific quantitative melt analysis (MS-QMA), including 3 sites that could not be analysed with previously used EpiTYPER system. The method was applied for detection of skewed XCI in FM females and in different types of SCA. We tested venous blood and saliva DNA collected from 107 controls (CGG

Published
2015

6. Real time emulation environment for digital control development

Author

Slater, Howard James

Subjects
621.31042, Induction motor, Vector control
Abstract

Simulation is a powerful tool for developing electric drive systems. Simulations allow the designer to experiment with control algorithms and hardware systems in a safe environment. To this end simulation is becoming increasingly popular. On'-line simulation does have its limitations in that the controller developed during the simulation period has eventually to be transferred to the target processor which will operate in the actual drive system. If, however, a real-time simulation environment could be realised, then the actual controller running in the actual target processor could be included in the simulation. Therefore no translation of code would be required once the controller had been developed and tested within the simulation. This would obviously lead to a reduction in development time and eliminate any possibility of introducing errors due to the translation between the simulated and actual controllers. This thesis describes the development of such a system using a multiple digital signal processing environment. The real-time simulated drive is operated in parallel with an experimental drive to allow a direct comparison between the two. The ability of the multiple processing system to operate in real-time has allowed the whole concept of simulation to be taken a stage further by the development of a real-time power level simulator. This simulator is capable of emulating a machine and load in real-time with real level of voltage and current. It is designed to replace a real machine during the development and testing stages of drive manufacture. This Virtual Machine is a controllable source/sink which is driven by the real-time simulation, and because of this the Virtual Machine takes on the characteristics of any choice of model within the real-time simulation. Moreover, because of its ability to handle bi-directional power flow, the Virtual machine can be programmed to emulate motors or generators. The Virtual Machine also includes the emulation of loads, thus making it extremely flexible and of interest to applications such as machine tools, electric vehicles, and wind generators, to name but a few.

Published
1997

7. Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features

Author

Baker, Emma K., Arpone, Marta, Aliaga, Solange M., Bretherton, Lesley, Kraan, Claudine M., Bui, Minh, Slater, Howard R., Ling, Ling, Francis, David, Hunter, Matthew F., Elliott, Justine, Rogers, Carolyn, Field, Michael, Cohen, Jonathan, Cornish, Kim, Santa Maria, Lorena, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica M., Amor, David J., and Godler, David E.

Published
2019
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20. Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

Author

Béna, Frédérique, Bruno, Damien L., Eriksson, Mats, van Ravenswaaij-Arts, Conny, Stark, Zornitza, Dijkhuizen, Trijnie, Gerkes, Erica, Gimelli, Stefania, Ganesamoorthy, Devika, Thuresson, Ann Charlotte, Labalme, Audrey, Till, Marianne, Bilan, Frédéric, Pasquier, Laurent, Kitzis, Alain, Dubourgm, Christele, Rossi, Massimiliano, Bottani, Armand, Gagnebin, Maryline, Sanlaville, Damien, Gilbert-Dussardier, Brigitte, Guipponi, Michel, van Haeringen, Arie, Kriek, Marjolein, Ruivenkamp, Claudia, Antonarakis, Stylianos E., Anderlid, Britt Marie, Slater, Howard R., and Schoumans, Jacqueline

Published
2013
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21. Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty

Author

Godler, David E., Inaba, Yoshimi, Shi, Elva Z., Skinner, Cindy, Bui, Quang M., Francis, David, Amor, David J., Hopper, John L., Loesch, Danuta Z., Hagerman, Randi J., Schwartz, Charles E., and Slater, Howard R.

Published
2013
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28. Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

Author

Bruno, Damien L, Anderlid, Britt-Marie, Lindstrand, Anna, van Ravenswaaij-Arts, Conny, Ganesamoorthy, Devika, Lundin, Johanna, Martin, Christa Lese, Douglas, Jessica, Nowak, Catherine, Adam, Margaret P, Kooy, R Frank, Van der Aa, Nathalie, Reyniers, Edwin, Vandeweyer, Geert, Stolte-Dijkstra, Irene, Dijkhuizen, Trijnie, Yeung, Alison, Delatycki, Martin, Borgström, Birgit, Thelin, Lena, Cardoso, Carlos, van Bon, Bregje, Pfundt, Rolph, de Vries, Bert B, Wallin, Anders, Amor, David J, James, Paul A, Slater, Howard R, and Schoumans, Jacqueline

Published
2010
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32. Additional file 1: of Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features

Author

Baker, Emma, Arpone, Marta, Aliaga, Solange, Bretherton, Lesley, Kraan, Claudine, Bui, Minh, Slater, Howard, Ling, Ling, Francis, David, Hunter, Matthew, Elliott, Justine, Rogers, Carolyn, Field, Michael, Cohen, Jonathan, Cornish, Kim, Maria, Lorena Santa, Faundes, Victor, Curotto, Bianca, Morales, Paulina, Trigo, Cesar, Salas, Isabel, Alliende, Angelica, Amor, David, and Godler, David

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, nervous system diseases
Abstract

Table S1. Comparison between males and females intellectual functioning (standard) scores. Table S2. Comparison between FM-only males with complete and incomplete FMR1 mRNA silencing on intellectual functioning (corrected) scores and autism features. Table S3. Relationship between intellectual functioning (standard) scores and FMR1 mRNA in males and females. Table S4. Relationship between intellectual functioning scores (corrected) and FMR1 mRNA in males and females with WISC-III (Chile) and MSEL removed. Table S5. Relationship between intellectual functioning (standard) scores with FMR1 mRNA in FM-only males with incomplete FMR1 mRNA silencing and PM/FM mosaic males. (DOCX 27 kb)

Published
2019
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40. Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing

Author

Field, Michael, primary, Dudding-Byth, Tracy, additional, Arpone, Marta, additional, Baker, Emma K., additional, Aliaga, Solange M., additional, Rogers, Carolyn, additional, Hickerton, Chriselle, additional, Francis, David, additional, Phelan, Dean G., additional, Palmer, Elizabeth E., additional, Amor, David J., additional, Slater, Howard, additional, Bretherton, Lesley, additional, Ling, Ling, additional, and Godler, David E., additional

Published
2019
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43. An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1)

Author

Kalitsis Paul, Khaniani Mahmoud S, Burgess Trent, and Slater Howard R

Subjects
Genetics, QH426-470
Abstract

Abstract Background Fragile X syndrome (OMIM #300624) is the most common, recognised, heritable cause of mental retardation. Widespread testing is warranted by the relatively high frequency of the disorder, the benefits of early detection and the identification of related carriers whose offspring are at a 1 in 2 risk of inheriting the expanded pathogenic mutation. However, cost-effective screening of mentally retarded individuals has been impeded by the lack of a single, simple laboratory test. Currently, Fragile X syndrome can be excluded in males and a majority of females using a simple high-throughput PCR test. Due to the limited sensitivity of the PCR test, we find in our diagnostic service that approximately 40% of females appear homozygous and a labour intensive and expensive Southern blot test is required to distinguish these from females carrying one normal allele and an expanded allele. Results We describe an improved PCR test which displays a high level of precision allowing alleles differing by a single triplet to be resolved. Using the new assay, we detected 46/83 (53%) cryptic heterozygotes previously labelled as homozygotes. The assay also extended the range of repeats amplifiable, up to 170 CGG repeats in males and 130 CGG repeats in females. Combined with the high precision, the assay also improves discrimination of normal (CGG repeats < 45) from grey zone (45 < CGG repeats < 54) alleles and grey zone alleles from small premutations (55 < CGG repeats < 100). Conclusion Use of this PCR test provides significantly improved precision and amplification of longer alleles. The number of follow-up Southern blot tests required is reduced (up to 50%) with consequent improvement in turnaround time and cost.

Published
2008
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44. Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

Author

Slater Howard R, Rowell Margaret, Francis David I, Northrop Emma, Albalwi Mohammed, Schüle Birgitt, Gardner RJ McKinlay, and Francke Uta

Subjects
Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background Prader-Willi syndrome (MIM #176270; PWS) is caused by lack of the paternally-derived copies, or their expression, of multiple genes in a 4 Mb region on chromosome 15q11.2. Known mechanisms include large deletions, maternal uniparental disomy or mutations involving the imprinting center. De novo balanced reciprocal translocations in 5 reported individuals had breakpoints clustering in SNRPN intron 2 or exon 20/intron 20. To further dissect the PWS phenotype and define the minimal critical region for PWS features, we have studied a 22 year old male with a milder PWS phenotype and a de novo translocation t(4;15)(q27;q11.2). Methods We used metaphase FISH to narrow the breakpoint region and molecular analyses to map the breakpoints on both chromosomes at the nucleotide level. The expression of genes on chromosome 15 on both sides of the breakpoint was determined by RT-PCR analyses. Results Pertinent clinical features include neonatal hypotonia with feeding difficulties, hypogonadism, short stature, late-onset obesity, learning difficulties, abnormal social behavior and marked tolerance to pain, as well as sticky saliva and narcolepsy. Relative macrocephaly and facial features are not typical for PWS. The translocation breakpoints were identified within SNRPN intron 17 and intron 10 of a spliced non-coding transcript in band 4q27. LINE and SINE sequences at the exchange points may have contributed to the translocation event. By RT-PCR of lymphoblasts and fibroblasts, we find that upstream SNURF/SNRPN exons and snoRNAs HBII-437 and HBII-13 are expressed, but the downstream snoRNAs PWCR1/HBII-85 and HBII-438A/B snoRNAs are not. Conclusion As part of the PWCR1/HBII-85 snoRNA cluster is highly conserved between human and mice, while no copy of HBII-438 has been found in mouse, we conclude that PWCR1/HBII-85 snoRNAs is likely to play a major role in the PWS- phenotype.

Published
2005
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45. Applied high-speed imaging for the icing research program at NASA Lewis Research Center

Author

Slater, Howard, Owens, Jay, and Shin, Jaiwon

Subjects
Instrumentation And Photography
Abstract

The Icing Research Tunnel at NASA Lewis Research Center provides scientists a scaled, controlled environment to simulate natural icing events. The closed-loop, low speed, refrigerated wind tunnel offers the experimental capability to test for icing certification requirements, analytical model validation and calibration techniques, cloud physics instrumentation refinement, advanced ice protection systems, and rotorcraft icing methodology development. The test procedures for these objectives all require a high degree of visual documentation, both in real-time data acquisition and post-test image processing. Information is provided to scientific, technical, and industrial imaging specialists as well as to research personnel about the high-speed and conventional imaging systems will be on the recent ice protection technology program. Various imaging examples for some of the tests are presented. Additional imaging examples are available from the NASA Lewis Research Center's Photographic and Printing Branch.

Published
1992

46. Applied high-speed imaging for the icing research program at NASA Lewis Research Center

Author

Slater, Howard, Owens, Jay, and Shin, Jaiwon

Subjects
Instrumentation And Photography
Abstract

The Icing Research Tunnel at NASA Lewis Research Center provides scientists a scaled, controlled environment to simulate natural icing events. The closed-loop, low speed, refrigerated wind tunnel offers the experimental capability to test for icing certification requirements, analytical model validation and calibration techniques, cloud physics instrumentation refinement, advanced ice protection systems, and rotorcraft icing methodology development. The test procedures for these objectives all require a high degree of visual documentation, both in real-time data acquisition and post-test image processing. Information is provided to scientific, technical, and industrial imaging specialists as well as to research personnel about the high-speed and conventional imaging systems will be on the recent ice protection technology program. Various imaging examples for some of the tests are presented. Additional imaging examples are available from the NASA Lewis Research Center's Photographic and Printing Branch.

Published
1991

49. The use of droplet digital PCR and high resolution melt for detection of low level mosaicism

Author

Godler, David E., primary, Christodoulou, John, additional, Bruno, Damien, additional, Li, Xin, additional, Inaba, Yoshimi, additional, Bui, Quang M., additional, Francis, David, additional, Elliot, Justine, additional, Wotton, Tiffany, additional, Cohen, Jonathan, additional, Rogers, Carolyn, additional, Field, Mike, additional, Slater, Howard R., additional, and Amor, David J., additional

Published
2018
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50. ADGRV1 is implicated in myoclonic epilepsy

Author

Myers, Kenneth A., primary, Nasioulas, Steven, additional, Boys, Amber, additional, McMahon, Jacinta M., additional, Slater, Howard, additional, Lockhart, Paul, additional, Sart, Desirée du, additional, and Scheffer, Ingrid E., additional

Published
2017
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