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101. Sylvester o’halloran surgical scientific meeting: Proceedings of meeting held 7th & 8th March 1997 in Charles parsons theatre, university of Limerick

Author

Fulton, G. J., Davies, M. G., O’Hagen, P., Rasheed, A., Kelly, C., Kay, E., Fitzgerald, S., Bouchier-Hayes, D., Leahy, A., Fennessy, F., Kelly, C., Fitzgerald, P., Bouchier-Hayes, D., Khosraviani, K., Weir, H. P., Williamson, K., Wilson, R., Moorehead, R. J., Rowlands, B. J., Morrissey, D., O’Connell, J., Lynch, D., O’Sullivan, C., Shanahan, F., Collins, J. K., Kelly, J. L., Soberg, C. C., Lyons, A., Mannick, J. A., Lederer, J. A., Chen, C., Kelly, C., Leahy, A., Bouchier-Hayes, D. J., Fitzsimons, H., O’Hanlon, D. M., Curran, C., Canney, M., Morris, S., Clinton, O., Given, H. F., Coveney, E., Lyerly, H. K., Murphy, F. L., Kelly, C. J., Osborne, D. H., Kelly, P., O’Riordan, D. S., Horgan, P. G., Keane, F. B. V., Tanner, W. A., Kilmartin, P., Delaney, C. P., Johnston, S. M., Fitzpatrick, J. M., Gorey, T. F., Mehigan, J., O/rsRiordan, M. G., Shines, N., Hill, A., Tanner, W. A., McDonnell, C. O., Coveney, E., Murphy, F., Javadpour, S. M., Alhadi, Y., Leahy, A., Waldron, R., Watson, R. G., Tarrant, A., Neelamekam, T. K., Mathias, J., Geoghegan, J., Boyle, T., Traynor, O., Hayes, S., O’Donovan, B., Ajmal, N., McCann, J., Corrigan, N. T., O’Riordan, M. G., Ross, P., O’Donohoe, M., Bresnihan, M., Feeley, T. M., Fiuza-Castineira, C., Coleman, D., Fisher, H., Butt, A., Ghumman, E., Grace, P., Burke, P., Johnston, S. M., Martin, S. A., Fox-Talbot, M. K., Lipsett, P. A., Lillemoe, K. D., Pitt, H. A., O’Keeffe, D. A., Hill, A. D. K., Sheahan, K., Ryan, F., Barton, D., Fitzgerald, R., McDermott, E. W., O’Higgins, N. J., Kavanagh, E., Kiely, P., O’Driscoll, D., Ramesh, M., Kirwan, W. O., Winter, D. C., Nally, K., O’Callaghan, J., Matthews, J. B., Harvey, B. J., O’Sullivan, G. C., Shanahan, F., Young, L. S., Regan, M. C., Sweeney, P., Bouchier-Hayes, D. M., Fitzpatrick, J. M., Dardis, R., Kelly, C., Broe, P., Bouchier-Hayes, D., O’Brien, M. G., Collins, J. K., Shanahan, F., O’Sullivan, G. C., Neary, P., Ridgeway, P., Condron, C., Wang, J. H., Redmond, H. P., Bouchier-Hayes, D., Redfern, D. R. M., Strachan, R. K. S., Hollingdale, J. M., Grace, P. A., Acheson, A., Graham, A., Weir, C., Lee, B., O’Donnell, C., Buckley, D., O’Donnell, J. A., Purcell, E., O’Donoghue, M., Sultan, S., Colgan, M., Molloy, M., Moore, D., Shanik, G., McCollum, P. T., Raza, Z., Naidu, S., Stonebridge, P. A., Colgan, M. P., Moore, D. J., Shanik, D. G., Dowdall, J., Hill, A. D. K., Williams, C., Shering, S. G., Duffy, G., McDermott, E. W., O’Higgins, N. J., Coveney, E., Greengrass, R., Iglehart, D., Little, G., Kim Lyerly, H., Fynes, M., Cahill, A., O’Herlihy, C., O’Connell, P. R., Ahmad, I., Etisham, M., Drumm, J., Flood, H., Mulhall, K., Murray, K., O’Rian, S., Garvey, N., Johnston, J., Waldron, R., McGreal, G. T., Kelly, J. L., O’Donnell, J. A., Kirwan, W. O., Brady, M. P., Duffy, M. M., Regan, M., Harrington, M. G., O’Connell, P. R., Fitzpatrick, J. M., Javadpour, M., Coveney, E., McDonnell, C., Watson, R. G., Eguare, E., Barry, M. C., Ghumman, E., Grace, P. A., O’Donovan, B., Hayes, S., Ajmal, N., McCann, J., O’Toole, G. C., O’Higgins, N., McDermott, E., Brady, C. M., Sultan, S. A., O’Donoghue, M. K., Molloy, M. P., Colgan, M. P., Moore, D. J., Shanik, G. D., McCollum, P. T., Holdsworth, R. J., Naidu, S., Raza, Z., Fehily, M., Hill, A. D. K., Doran, C., O’Riordan, M. G., O’Donoghue, M., Keane, F., Tanner, W. A., Rothwell, J. F., Staunton, M. J., O’Mahony, L., Gaffney, E. F., Mealy, K., Hennessy, T. P. J., Winter, D. C., O’Sullivan, G. C., Harvey, B. J., and Geibel, J.

Published
1998
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113. [Erratum to:] Does Childhood Trauma Moderate Polygenic Risk for Depression? A Meta-analysis of 5765 Subjects From the Psychiatric Genomics Consortium (vol 84, pg 138, 2018)

Author

Peyrot, W. J., Van der Auwera, S., Milaneschi, Y., Dolan, C., V, Madden, P. A. F., Sullivan, P. F., Strohmaier, J., Ripke, S., Rietschel, M., Nivard, M. G., Mullins, N., Montgomery, G. W., Henders, A. K., Heat, A. C., Fisher, H. L., Dunn, E. C., Byrne, E. M., Air, T. A., Baune, B. T., Breen, G., Levinson, D. F., Lewis, C. M., Martin, N. G., Nelson, E. N., Boomsma, D., I, Grabe, H. J., Wray, N. R., and Penninx, B. W. J. H.

Subjects
Netherlands Twin Register (NTR)
Published
2018

115. Image compression by texture modeling in the wavelet domain

Author

Ryan, Thomas W., Sanders, L. Darwin, Fisher, H. Donald, and Iverson, A. Evan

Subjects
Image processing -- Methods, Data compression -- Methods, Business, Computers, Electronics, Electronics and electrical industries
Abstract

A complete hybrid compression approach is presented in which the absolute fidelity of the context-only region is replaced by realism, obtained through texture modeling. An image-domain texture segmentation algorithm is used for the texture modeling of the wavelet domain within the homogeneous regions. The accuracy of the fine resolution features is maintained and low bit rates are obtained due to the absolute fidelity in the texture regions. The quality of the segmentation affects the quality of the resulting images.

Published
1996

118. Problems for Solution: 3543-3551

Author

Berkeley, L. M., Altshiller-Court, Nathan, Sosnow, George Y., Rasche, W. H., Rosenman, Martin, Reynolds, J. B., Duncan, Dewey C., Fisher, H. L., and Berry, Eugene M.

Published
1932
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127. Abstract # 3145 Rage-associated S100a8/A9 levels associated with circulating proinflammatory cytokines and social well-being in patients with breast cancer over the first 12 months of treatment

Author

Taub, C., primary, Fisher, H., additional, Nahin, E., additional, Blomberg, B., additional, Lippman, M., additional, Hudson, B., additional, Diaz, A., additional, Lechner, S., additional, Kwak, T., additional, Hwang, G., additional, Carver, C., additional, and Antoni, M., additional

Published
2019
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130. Collaborative meta-analysis finds no evidence of a strong interaction between stress and 5-HTTLPR genotype contributing to the development of depression

Author

Culverhouse, R. C., Saccone, N. L., Horton, A. C., Ma, Y., Anstey, K. J., Banaschewski, T., Burmeister, M., Cohen-Woods, S., Etain, B., Fisher, H. L., Goldman, N., Guillaume, S., Horwood, J., Juhasz, G., Lester, K. J., Mandelli, L., Middeldorp, C. M., Olie, E., Villafuerte, S., Air, T. M., Araya, R., Bowes, L., Burns, R., Byrne, E. M., Coffey, C., Coventry, W. L., Gawronski, K. A. B., Glei, D., Hatzimanolis, A., Hottenga, J-J, Jaussent, I., Jawahar, C., Jennen-Steinmetz, C., Kramer, J. R., Lajnef, M., Little, K., zu Schwabedissen, H. M., Nauck, M., Nederhof, E., Petschner, P., Peyrot, W. J., Schwahn, C., Sinnamon, G., Stacey, D., Tian, Y., Toben, C., Van der Auwera, S., Wainwright, N., Wang, J-C, Willemsen, G., Anderson, I. M., Arolt, V., Åslund, Cecilia, Bagdy, G., Baune, B. T., Bellivier, F., Boomsma, D. I., Courtet, P., Dannlowski, U., de Geus, E. J. C., Deakin, J. F. W., Easteal, S., Eley, T., Fergusson, D. M., Goate, A. M., Gonda, X., Grabe, H. J., Holzman, C., Johnson, E. O., Kennedy, M., Laucht, M., Martin, N. G., Munafo, M. R., Nillson, Kent W., Oldehinkel, A. J., Olsson, C. A., Ormel, J., Otte, C., Patton, G. C., Penninx, B. W. J. H., Ritchie, K., Sarchiapone, M., Scheid, J. M., Serretti, A., Smit, J. H., Stefanis, N. C., Surtees, P. G., Voelzke, H., Weinstein, M., Whooley, M., Nurnberger, J. I., Jr., Breslau, N., Bierut, L. J., Culverhouse, R. C., Saccone, N. L., Horton, A. C., Ma, Y., Anstey, K. J., Banaschewski, T., Burmeister, M., Cohen-Woods, S., Etain, B., Fisher, H. L., Goldman, N., Guillaume, S., Horwood, J., Juhasz, G., Lester, K. J., Mandelli, L., Middeldorp, C. M., Olie, E., Villafuerte, S., Air, T. M., Araya, R., Bowes, L., Burns, R., Byrne, E. M., Coffey, C., Coventry, W. L., Gawronski, K. A. B., Glei, D., Hatzimanolis, A., Hottenga, J-J, Jaussent, I., Jawahar, C., Jennen-Steinmetz, C., Kramer, J. R., Lajnef, M., Little, K., zu Schwabedissen, H. M., Nauck, M., Nederhof, E., Petschner, P., Peyrot, W. J., Schwahn, C., Sinnamon, G., Stacey, D., Tian, Y., Toben, C., Van der Auwera, S., Wainwright, N., Wang, J-C, Willemsen, G., Anderson, I. M., Arolt, V., Åslund, Cecilia, Bagdy, G., Baune, B. T., Bellivier, F., Boomsma, D. I., Courtet, P., Dannlowski, U., de Geus, E. J. C., Deakin, J. F. W., Easteal, S., Eley, T., Fergusson, D. M., Goate, A. M., Gonda, X., Grabe, H. J., Holzman, C., Johnson, E. O., Kennedy, M., Laucht, M., Martin, N. G., Munafo, M. R., Nillson, Kent W., Oldehinkel, A. J., Olsson, C. A., Ormel, J., Otte, C., Patton, G. C., Penninx, B. W. J. H., Ritchie, K., Sarchiapone, M., Scheid, J. M., Serretti, A., Smit, J. H., Stefanis, N. C., Surtees, P. G., Voelzke, H., Weinstein, M., Whooley, M., Nurnberger, J. I., Jr., Breslau, N., and Bierut, L. J.

Abstract

The hypothesis that the S allele of the 5-HTTLPR serotonin transporter promoter region is associated with increased risk of depression, but only in individuals exposed to stressful situations, has generated much interest, research and controversy since first proposed in 2003. Multiple meta-analyses combining results from heterogeneous analyses have not settled the issue. To determine the magnitude of the interaction and the conditions under which it might be observed, we performed new analyses on 31 data sets containing 38 802 European ancestry subjects genotyped for 5-HTTLPR and assessed for depression and childhood maltreatment or other stressful life events, and meta-analysed the results. Analyses targeted two stressors (narrow, broad) and two depression outcomes (current, lifetime). All groups that published on this topic prior to the initiation of our study and met the assessment and sample size criteria were invited to participate. Additional groups, identified by consortium members or self-identified in response to our protocol (published prior to the start of analysis) with qualifying unpublished data, were also invited to participate. A uniform data analysis script implementing the protocol was executed by each of the consortium members. Our findings do not support the interaction hypothesis. We found no subgroups or variable definitions for which an interaction between stress and 5-HTTLPR genotype was statistically significant. In contrast, our findings for the main effects of life stressors (strong risk factor) and 5-HTTLPR genotype (no impact on risk) are strikingly consistent across our contributing studies, the original study reporting the interaction and subsequent meta-analyses. Our conclusion is that if an interaction exists in which the S allele of 5-HTTLPR increases risk of depression only in stressed individuals, then it is not broadly generalisable, but must be of modest effect size and only observable in limited situations.

Published
2018
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132. Water-Resistant Gypsum Binding Agents and Concretes Based Thereof as Promising Materials for Building Green

Author

Domanskaya, I., Bednyagin, S., Fisher, H. -B., Domanskaya, I., Bednyagin, S., and Fisher, H. -B.

Abstract

For gypsum-based cementing materials, environmental advantages are highlighted over Portland cement, and major method for increasing their water resistance are described. By the example of gypsum-lime slag binders, a successful application of water-resistant gypsums is demonstrated in the severe climatic conditions of the Ural region. Phase composition analysis results are presented for gypsum-lime slag stone-like material after years of operation as part of the concrete walls of enclosures. It is found that durability of the material can be explained by the formation of stable compounds: calcium sulfate dihydrate, calcium carbonates and calcium hydrosilicates of the type CSH(B). © 2018 Institute of Physics Publishing. All rights reserved.

Published
2018

133. Genome-wide gene-environment interaction in depression: A systematic evaluation of candidate genes: The childhood trauma working-group of PGC-MDD

Author

Van der Auwera, S, Peyrot, WJ, Milaneschi, Y, Hertel, J, Baune, B, Breen, G, Byrne, E, Dunn, EC, Fisher, H, Homuth, G, Levinson, D, Lewis, C, Mills, N, Mullins, N, Nauck, M, Pistis, G, Preisig, M, Rietschel, M, Ripke, S, Sullivan, P, Teumer, A, Voelzke, H, Boomsma, DI, Wray, NR, Penninx, B, Grabe, H, Van der Auwera, S, Peyrot, WJ, Milaneschi, Y, Hertel, J, Baune, B, Breen, G, Byrne, E, Dunn, EC, Fisher, H, Homuth, G, Levinson, D, Lewis, C, Mills, N, Mullins, N, Nauck, M, Pistis, G, Preisig, M, Rietschel, M, Ripke, S, Sullivan, P, Teumer, A, Voelzke, H, Boomsma, DI, Wray, NR, Penninx, B, and Grabe, H

Abstract

Gene by environment (GxE) interaction studies have investigated the influence of a number of candidate genes and variants for major depressive disorder (MDD) on the association between childhood trauma and MDD. Most of these studies are hypothesis driven and investigate only a limited number of SNPs in relevant pathways using differing methodological approaches. Here (1) we identified 27 genes and 268 SNPs previously associated with MDD or with GxE interaction in MDD and (2) analyzed their impact on GxE in MDD using a common approach in 3944 subjects of European ancestry from the Psychiatric Genomics Consortium who had completed the Childhood Trauma Questionnaire. (3) We subsequently used the genome-wide SNP data for a genome-wide case-control GxE model and GxE case-only analyses testing for an enrichment of associated SNPs. No genome-wide significant hits and no consistency among the signals of the different analytic approaches could be observed. This is the largest study for systematic GxE interaction analysis in MDD in subjects of European ancestry to date. Most of the known candidate genes/variants could not be supported. Thus, their impact on GxE interaction in MDD may be questionable. Our results underscore the need for larger samples, more extensive assessment of environmental exposures, and greater efforts to investigate new methodological approaches in GxE models for MDD.

Published
2018

134. Chapter 3: Impacts of 1.5ºC global warming on natural and human systems

Author

Hoegh - Guldberg, O., Jacob, D., Taylor, M., Bindi, M., Brown, S., Camilloni, I., Diedhiou, A., Djalante, R., Ebi, K., Engelbrecht, F., Guiot, K., Hijioka, Y., Mehrotra, S., Payne, A., Seneviratne, S., Thomas, A., Warren, R., Zhou, G., Halim, S., Achlatis, M., Alexander, L., Allen, M., Berry, P., Boyer, C., Brilli, L., Buckeridge, M., Cheung, W., Craig, M., Ellis, N., Evans, J., Fisher, H., Fraedrich, K., Fuss, S., Ganase, A., Gattuso, J., Greve, P., Guillen, T., Hanasaki, N., Hasegawa, T., Hayes, K., Hirsch, A., Jones, C., Jung, T., Kanninen, M., Krinner, G., Lawrence, D., Lenton, T., Ley, D., Liveman, D., Mahowald, N., McInnes, K., Meissner, K., Millar, R., Mintenbeck, K., Mitchell, D., Mix, A., Notz, D., Nurse, L., Okem, A., Olsson, L., Oppenheimer, M., Paz, S., Peterson, J., Petzold, J., Preuschmann, S., Rahman, M., Rogelj, J., Scheuffele, H., Schleussner, C.-F., Scott, D., Seferian, R., Sillmann, J., Singh, C., Slade, R., Stephenson, K., Stephenson, T., Sylla, M., Tebboth, M., Tschakert, P., Vautard, R., Wartenburger, R., Wehner, M., Weyer, N., Whyte, F., Yohe, G., Zhang, X., Zougmore, R., Hoegh - Guldberg, O., Jacob, D., Taylor, M., Bindi, M., Brown, S., Camilloni, I., Diedhiou, A., Djalante, R., Ebi, K., Engelbrecht, F., Guiot, K., Hijioka, Y., Mehrotra, S., Payne, A., Seneviratne, S., Thomas, A., Warren, R., Zhou, G., Halim, S., Achlatis, M., Alexander, L., Allen, M., Berry, P., Boyer, C., Brilli, L., Buckeridge, M., Cheung, W., Craig, M., Ellis, N., Evans, J., Fisher, H., Fraedrich, K., Fuss, S., Ganase, A., Gattuso, J., Greve, P., Guillen, T., Hanasaki, N., Hasegawa, T., Hayes, K., Hirsch, A., Jones, C., Jung, T., Kanninen, M., Krinner, G., Lawrence, D., Lenton, T., Ley, D., Liveman, D., Mahowald, N., McInnes, K., Meissner, K., Millar, R., Mintenbeck, K., Mitchell, D., Mix, A., Notz, D., Nurse, L., Okem, A., Olsson, L., Oppenheimer, M., Paz, S., Peterson, J., Petzold, J., Preuschmann, S., Rahman, M., Rogelj, J., Scheuffele, H., Schleussner, C.-F., Scott, D., Seferian, R., Sillmann, J., Singh, C., Slade, R., Stephenson, K., Stephenson, T., Sylla, M., Tebboth, M., Tschakert, P., Vautard, R., Wartenburger, R., Wehner, M., Weyer, N., Whyte, F., Yohe, G., Zhang, X., and Zougmore, R.

Published
2018

135. PREVALENCE OF BULLYING VICTIMISATION AMONGST FIRST-EPISODE PSYCHOSIS PATIENTS AND UNAFFECTED

Author

Trotta A., FALGARES, Giorgio, Murray R. M., Fisher H. L., and Trotta A., Falgares G., Murray R.M., Fisher H.L.

Subjects
PSYCHOSIS, Settore M-PSI/07 - Psicologia Dinamica, BULLYING
Abstract

Despite increasing evidence suggesting that childhood maltreatment is significantly associated with psychosis, the specific role of bullying in the onset of psychotic disorders is still unclear. This study aimed to examine whether bullying was more prevalent amongst individuals presenting to services for the first time with a psychotic disorder than in unaffected community controls.

Published
2017

136. Pharmaceutical applications of layered double hydroxides

Author

Fisher, H, Wong, L, Williams, G, and O'Hare, D

Subjects
Pharmaceutical Chemistry, Chemistry, Inorganic
Abstract

The principle aims of this thesis are to investigate the synthesis of layered double hydroxides (LDHs) for use as drug delivery systems, and to explore the potential of these compounds to provide solutions to typical pharmaceutical problems. In Chapter 1, background information on pharmaceutics and drug delivery is given. LDHs are introduced and their structure, synthesis and general applications described. The biomedical and pharmaceutical applications of LDHs are reviewed. Chapter 2 presents the intercalation of the GABAergic drugs gabapentin and pregabalin into an LDH using the coassembly method. The optimum conditions for the restacking process are investigated, an improved method of anhydrous restacking in ethanol at reduced temperatures is described, and a mechanism is suggested. The stabilising effect of LDH intercalation on the drug ions is measured. Chapter 3 explores the potential for LDHs to stabilise and deliver catecholamine drugs levodopa, carbidopa and methyldopa. The ability of a range of LDHs to intercalate and stabilise these drugs against racemisation and oxidative decomposition across a variety of conditions is reported. In Chapter 4, the potential for LDHs to deliver neutral hydrophobic and cationic drugs through the intercalation of cyclodextrin–drug inclusion complexes is investi- gated. A range of partially substituted anionic cyclodextrins are synthesised and intercalated into an LDH. Cyclodextrin–drug inclusion complexes are intercalated, their interlayer orientation is suggested and drug release measured. In Chapter 5, the potential of polymer–LDH composites for drug delivery is explored. A selection of drug intercalated LDHs from Chapters 2 and 3 are encapsulated in several enteric polymers typically used for drug delivery. The release profiles and stabilising effects of the composites are measured. Chapter 6 details the experimental procedures and analytical instruments used throughout this thesis. The Appendices contain supplementary characterisation and analytical data that are referred to in the main text.

Published
2017

143. Simplified Aid For Crew Rescue (SAFR)

Author

Fisher, H. Thomas

Subjects
Man/System Technology And Life Support
Abstract

Viewgraphs and discussion of a Crew Emergency Rescue System (CERS) are presented. Topics covered include: functional description; operational description; interfaces with other subsystems/elements; simplified aid for crew rescue (SACR) characteristics; potential resource requirements; logistics, repair, and resupply; potential performance improvements; and automation impact.

Published
1990

144. EVA crewperson overboard - Simplified rescue aid (SIRA)

Author

Fisher, H. T

Subjects
Space Transportation
Abstract

This paper discusses potential roles for extravehicular activity (EVA) in space logistics and the possibilities for a crewperson to become inadvertently detached from the work site. Factors which could cause the detachment will be presented and a rescue technique described. Finally, implications to the design and implementation of space logistics will be portrayed relative to minimizing or eliminating the adrift EVA crewperson possibility.

Published
1990

147. Consultant Discontent

Author

Whiteside, John D., Lee-Potter, J. P., Clark, G. O., Rickards, J. F., Phelps, Percival, Potter, C. M., Kesby, B. R., Graff, Derek, Fisher, H. J., Fowler, W., Cozens-Hardy, J. N., and Oliver, R. E. W.

Published
1974

149. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Author

Redin, C. (Claire), Brand, H. (Harrison), Collins, R.L. (Ryan L.), Kammin, T. (Tammy), Mitchell, E. (Elyse), Hodge, J.C. (Jennelle C.), Hanscom, C. (Carrie), Pillalamarri, V. (Vamsee), Seabra, C.M. (Catarina M.), Abbott, M.-A. (Mary-Alice), Abdul-Rahman, O.A. (Omar), Aberg, E. (Erika), Adley, R. (Rhett), Alcaraz-Estrada, S.L. (Sofia L.), Alkuraya, F.S. (Fowzan S), An, Y. (Yu), Anderson, M.-A. (Mary-Anne), Antolik, C. (Caroline), Anyane-Yeboa, K. (Kwame), Atkin, J.F. (Joan), Bartell, T. (Tina), Bernstein, J.A. (Jonathan A.), Beyer, E. (Elizabeth), Blumenthal, I. (Ian), Bongers, E. (Ernie), Brilstra, E.H. (Eva H.), Brown, C.W. (Chester W.), Brüggenwirth, H.T. (Hennie), Callewaert, L., Chiang, C. (Colby), Corning, K. (Ken), Cox, H. (H.), Cuppen, E. (Edwin), Currall, B.B. (Benjamin B.), Cushing, T. (Tom), David, D. (Dezso), Deardorff, M.A. (Matthew), Dheedene, A. (Annelies), D'Hooghe, M. (Marc), Vries, B. (Boukje) de, Earl, D.L. (Dawn L.), Ferguson, H.L. (Heather L.), Fisher, H. (Heather), Fitzpatrick, D.R. (David R.), Gerrol, P. (Pamela), Giachino, D. (Daniela), Glessner, J.T. (Joseph T.), Gliem, T. (Troy), Grady, M. (Margo), Graham, B.H. (Brett H.), Griffis, C. (Cristin), Gripp, K.W. (Karen), Gropman, A.L. (Andrea L.), Hanson-Kahn, A. (Andrea), Harris, D.J. (David J.), Hayden, M.A. (Mark A.), Hill, R. (Rosamund), Hochstenbach, R. (Ron), Hoffman, J.D. (Jodi D.), Hopkin, R., Hubshman, M.W. (Monika W.), Innes, M., Irons, M. (Mira), Irving, M. (Melita), Jacobsen, J.C. (Jessie C.), Janssens, S. (Sandra), Jewett, T. (Tamison), Johnson, J.P. (John P.), Jongmans, M.C.J. (Marjolijn), Kahler, S.G. (Stephen G.), Koolen, D.A. (David), Korzelius, J. (Jerome), Kroisel, P. (Peter), Lacassie, Y. (Yves), Lawless, W. (William), Lemyre, E. (Emmanuelle), Leppig, K. (Kathy), Levin, A.V. (Alex V.), Li, H. (Haibo), Li, H. (Hong), Liao, E.C. (Eric C.), Lim, C. (Cynthia), Lose, E.J. (Edward J.), Lucente, D. (Diane), MacEra, M.J. (Michael J.), Manavalan, P. (Poornima), Mandrile, G. (Giorgia), Marcelis, C.L.M. (Carlo), Margolin, L. (Lauren), Mason, T. (Tamara), Masser-Frye, D. (Diane), McClellan, M.W. (Michael W.), Zepeda Mendoza, C.J. (Cinthya J.), Menten, B., Middelkamp, S. (Sjors), Mikami, L.R. (Liya R.), Moe, E. (Emily), Mohammed, S. (Shabaz), Mononen, T. (Tarja), Mortenson, M.E. (Megan E.), Moya, G. (Graciela), Nieuwint, A.W. (Aggie W.), Ordulu, Z. (Zehra), Parkash, S. (Sandhya), Pauker, S.P. (Susan P.), Pereira, S. (Shahrin), Perrin, D. (Danielle), Phelan, K. (Katy), Piña Aguilar, R.E. (Raul E.), Poddighe, P. (Pino), Pregno, G. (Giulia), Raskin, S. (Salmo), Reis, L. (Linda), Rhead, W. (William), Rita, D. (Debra), Renkens, I. (Ivo), Roelens, F. (Filip), Ruliera, J. (Jayla), Rump, P. (Patrick), Schilit, S.L.P. (Samantha L.P.), Shaheen, R. (Ranad), Sparkes, R. (Rebecca), Spiegel, E. (Erica), Stevens, B. (Blair), Stone, M.R. (Matthew R.), Tagoe, J. (Julia), Thakuria, J.V. (Joseph V.), Bon, B. (Bregje) van, van de Kamp, J.M. (Jiddeke M.), Van Der Burgt, I. (Ineke), Essen, T. (Ton) van, Ravenswaaij-Arts, C.M.A. (Conny) van, Van Roosmalen, M.J. (Markus J.), Vergult, S. (Sarah), Volker-Touw, C.M.L. (Catharina M.L.), Warburton, D. (Dorothy), Waterman, M.J. (Matthew J.), Wiley, S. (Susan), Wilson, A. (Anna), Yerena-De Vega, M.D.L.C.A. (Maria De La Concepcion A), Zori, R.T. (Roberto T.), Levy, B. (Brynn), Brunner, H.G. (Han), Leeuw, N. (Nicole) de, Kloosterman, W.P. (Wigard), Thorland, E.C. (Erik C.), Morton, C.C. (Cynthia), Gusella, J.F. (James), Talkowski, M.E. (Michael E.), Redin, C. (Claire), Brand, H. (Harrison), Collins, R.L. (Ryan L.), Kammin, T. (Tammy), Mitchell, E. (Elyse), Hodge, J.C. (Jennelle C.), Hanscom, C. (Carrie), Pillalamarri, V. (Vamsee), Seabra, C.M. (Catarina M.), Abbott, M.-A. (Mary-Alice), Abdul-Rahman, O.A. (Omar), Aberg, E. (Erika), Adley, R. (Rhett), Alcaraz-Estrada, S.L. (Sofia L.), Alkuraya, F.S. (Fowzan S), An, Y. (Yu), Anderson, M.-A. (Mary-Anne), Antolik, C. (Caroline), Anyane-Yeboa, K. (Kwame), Atkin, J.F. (Joan), Bartell, T. (Tina), Bernstein, J.A. (Jonathan A.), Beyer, E. (Elizabeth), Blumenthal, I. (Ian), Bongers, E. (Ernie), Brilstra, E.H. (Eva H.), Brown, C.W. (Chester W.), Brüggenwirth, H.T. (Hennie), Callewaert, L., Chiang, C. (Colby), Corning, K. (Ken), Cox, H. (H.), Cuppen, E. (Edwin), Currall, B.B. (Benjamin B.), Cushing, T. (Tom), David, D. (Dezso), Deardorff, M.A. (Matthew), Dheedene, A. (Annelies), D'Hooghe, M. (Marc), Vries, B. (Boukje) de, Earl, D.L. (Dawn L.), Ferguson, H.L. (Heather L.), Fisher, H. (Heather), Fitzpatrick, D.R. (David R.), Gerrol, P. (Pamela), Giachino, D. (Daniela), Glessner, J.T. (Joseph T.), Gliem, T. (Troy), Grady, M. (Margo), Graham, B.H. (Brett H.), Griffis, C. (Cristin), Gripp, K.W. (Karen), Gropman, A.L. (Andrea L.), Hanson-Kahn, A. (Andrea), Harris, D.J. (David J.), Hayden, M.A. (Mark A.), Hill, R. (Rosamund), Hochstenbach, R. (Ron), Hoffman, J.D. (Jodi D.), Hopkin, R., Hubshman, M.W. (Monika W.), Innes, M., Irons, M. (Mira), Irving, M. (Melita), Jacobsen, J.C. (Jessie C.), Janssens, S. (Sandra), Jewett, T. (Tamison), Johnson, J.P. (John P.), Jongmans, M.C.J. (Marjolijn), Kahler, S.G. (Stephen G.), Koolen, D.A. (David), Korzelius, J. (Jerome), Kroisel, P. (Peter), Lacassie, Y. (Yves), Lawless, W. (William), Lemyre, E. (Emmanuelle), Leppig, K. (Kathy), Levin, A.V. (Alex V.), Li, H. (Haibo), Li, H. (Hong), Liao, E.C. (Eric C.), Lim, C. (Cynthia), Lose, E.J. (Edward J.), Lucente, D. (Diane), MacEra, M.J. (Michael J.), Manavalan, P. (Poornima), Mandrile, G. (Giorgia), Marcelis, C.L.M. (Carlo), Margolin, L. (Lauren), Mason, T. (Tamara), Masser-Frye, D. (Diane), McClellan, M.W. (Michael W.), Zepeda Mendoza, C.J. (Cinthya J.), Menten, B., Middelkamp, S. (Sjors), Mikami, L.R. (Liya R.), Moe, E. (Emily), Mohammed, S. (Shabaz), Mononen, T. (Tarja), Mortenson, M.E. (Megan E.), Moya, G. (Graciela), Nieuwint, A.W. (Aggie W.), Ordulu, Z. (Zehra), Parkash, S. (Sandhya), Pauker, S.P. (Susan P.), Pereira, S. (Shahrin), Perrin, D. (Danielle), Phelan, K. (Katy), Piña Aguilar, R.E. (Raul E.), Poddighe, P. (Pino), Pregno, G. (Giulia), Raskin, S. (Salmo), Reis, L. (Linda), Rhead, W. (William), Rita, D. (Debra), Renkens, I. (Ivo), Roelens, F. (Filip), Ruliera, J. (Jayla), Rump, P. (Patrick), Schilit, S.L.P. (Samantha L.P.), Shaheen, R. (Ranad), Sparkes, R. (Rebecca), Spiegel, E. (Erica), Stevens, B. (Blair), Stone, M.R. (Matthew R.), Tagoe, J. (Julia), Thakuria, J.V. (Joseph V.), Bon, B. (Bregje) van, van de Kamp, J.M. (Jiddeke M.), Van Der Burgt, I. (Ineke), Essen, T. (Ton) van, Ravenswaaij-Arts, C.M.A. (Conny) van, Van Roosmalen, M.J. (Markus J.), Vergult, S. (Sarah), Volker-Touw, C.M.L. (Catharina M.L.), Warburton, D. (Dorothy), Waterman, M.J. (Matthew J.), Wiley, S. (Susan), Wilson, A. (Anna), Yerena-De Vega, M.D.L.C.A. (Maria De La Concepcion A), Zori, R.T. (Roberto T.), Levy, B. (Brynn), Brunner, H.G. (Han), Leeuw, N. (Nicole) de, Kloosterman, W.P. (Wigard), Thorland, E.C. (Erik C.), Morton, C.C. (Cynthia), Gusella, J.F. (James), and Talkowski, M.E. (Michael E.)

Abstract

Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs resulted in gene disruption that likely contributed to the developmental phenotype, 5.2% were associated with pathogenic genomic imbalances, and 7.3% disrupted topologically associated domains (TADs) encompassing known syndromic loci. Remarkably, BCA br

Published
2017
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150. Appendix

Author

Basov, N. G., Krokhin, O. N., Kriukov, P. G., Zakharov, S. D., Senatsky, Yu. V., Tchekalin, S. V., Linlor, William L., Papoular, Renaud, Alcock, A. J., Siller, G., Büchl, K., Hora, H., Dawson, John M., Mulser, Peter, Wilhelm, Hannelore, DuBois, Donald F., Lindl, John D., Kaw, Predhiman K., Chen, Francis F., Nuckolls, John H., Lengyel, L. L., Clarke, J. S., Fisher, H. N., Mason, R. J., Floux, F., Cognard, D., Denoeud, L-G., Piar, G., Parisot, D., Bobin, J. L., Delobeau, F., Fauquignon, C., Sklizkov, G. V., Ivanov, Yu. S., Mikhailov, Yu. A., Fedotov, S. I., Yamanaka, C., Yamanaka, T., Sasaki, T., Yoshida, K., Waki, M., Kang, H. B., McCall, G. H., Young, F., Ehler, A. W., Kephart, J. F., Godwin, R. P., Goldman, L. M., Soures, J., Lubin, M. J., Shearer, J. W., Garrison, J., Wong, J., Swain, J. E., Hora, Heinrich, and Ksander, Yuri, editor

Published
1975
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