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141 results on '"Harrold, E."'

1. Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

Author

Kaspi, A., Hildebrand, M.S., Jackson, V.E., Braden, R., Reyk, O. van, Howell, T., Debono, S., Lauretta, M., Morison, L., Coleman, M.J., Webster, R., Coman, D., Goel, H., Wallis, M., Dabscheck, G., Downie, L., Baker, E.K., Parry-Fielder, B., Ballard, K., Harrold, E., Ziegenfusz, S., Bennett, M.F., Robertson, E., Wang, L., Boys, A., Fisher, S.E., Amor, D.J., Scheffer, I.E., Bahlo, M., Morgan, A.T., Kaspi, A., Hildebrand, M.S., Jackson, V.E., Braden, R., Reyk, O. van, Howell, T., Debono, S., Lauretta, M., Morison, L., Coleman, M.J., Webster, R., Coman, D., Goel, H., Wallis, M., Dabscheck, G., Downie, L., Baker, E.K., Parry-Fielder, B., Ballard, K., Harrold, E., Ziegenfusz, S., Bennett, M.F., Robertson, E., Wang, L., Boys, A., Fisher, S.E., Amor, D.J., Scheffer, I.E., Bahlo, M., and Morgan, A.T.

Abstract

Item does not contain fulltext

Published
2023

2. Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

Author

Kaspi, A., Hildebrand, M.S., Jackson, V.E., Braden, R., Reyk, O. van, Howell, T., Debono, S., Lauretta, M., Morison, L., Coleman, M.J., Webster, R., Coman, D., Goel, H., Wallis, M., Dabscheck, G., Downie, L., Baker, E.K., Parry-Fielder, B., Ballard, K., Harrold, E., Ziegenfusz, S., Bennett, M.F., Robertson, E., Wang, L., Boys, A., Fisher, S.E., Amor, D.J., Scheffer, I.E., Bahlo, M., Morgan, A.T., Kaspi, A., Hildebrand, M.S., Jackson, V.E., Braden, R., Reyk, O. van, Howell, T., Debono, S., Lauretta, M., Morison, L., Coleman, M.J., Webster, R., Coman, D., Goel, H., Wallis, M., Dabscheck, G., Downie, L., Baker, E.K., Parry-Fielder, B., Ballard, K., Harrold, E., Ziegenfusz, S., Bennett, M.F., Robertson, E., Wang, L., Boys, A., Fisher, S.E., Amor, D.J., Scheffer, I.E., Bahlo, M., and Morgan, A.T.

Abstract

Item does not contain fulltext

Published
2023

3. Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

Author

Kaspi, A, Hildebrand, MS, Jackson, VE, Braden, R, van Reyk, O, Howell, T, Debono, S, Lauretta, M, Morison, L, Coleman, MJ, Webster, R, Coman, D, Goel, H, Wallis, M, Dabscheck, G, Downie, L, Baker, EK, Parry-Fielder, B, Ballard, K, Harrold, E, Ziegenfusz, S, Bennett, MF, Robertson, E, Wang, L, Boys, A, Fisher, SE, Amor, DJ, Scheffer, IE, Bahlo, M, Morgan, AT, Kaspi, A, Hildebrand, MS, Jackson, VE, Braden, R, van Reyk, O, Howell, T, Debono, S, Lauretta, M, Morison, L, Coleman, MJ, Webster, R, Coman, D, Goel, H, Wallis, M, Dabscheck, G, Downie, L, Baker, EK, Parry-Fielder, B, Ballard, K, Harrold, E, Ziegenfusz, S, Bennett, MF, Robertson, E, Wang, L, Boys, A, Fisher, SE, Amor, DJ, Scheffer, IE, Bahlo, M, and Morgan, AT

Abstract

Childhood apraxia of speech (CAS), the prototypic severe childhood speech disorder, is characterized by motor programming and planning deficits. Genetic factors make substantive contributions to CAS aetiology, with a monogenic pathogenic variant identified in a third of cases, implicating around 20 single genes to date. Here we aimed to identify molecular causation in 70 unrelated probands ascertained with CAS. We performed trio genome sequencing. Our bioinformatic analysis examined single nucleotide, indel, copy number, structural and short tandem repeat variants. We prioritised appropriate variants arising de novo or inherited that were expected to be damaging based on in silico predictions. We identified high confidence variants in 18/70 (26%) probands, almost doubling the current number of candidate genes for CAS. Three of the 18 variants affected SETBP1, SETD1A and DDX3X, thus confirming their roles in CAS, while the remaining 15 occurred in genes not previously associated with this disorder. Fifteen variants arose de novo and three were inherited. We provide further novel insights into the biology of child speech disorder, highlighting the roles of chromatin organization and gene regulation in CAS, and confirm that genes involved in CAS are co-expressed during brain development. Our findings confirm a diagnostic yield comparable to, or even higher, than other neurodevelopmental disorders with substantial de novo variant burden. Data also support the increasingly recognised overlaps between genes conferring risk for a range of neurodevelopmental disorders. Understanding the aetiological basis of CAS is critical to end the diagnostic odyssey and ensure affected individuals are poised for precision medicine trials.

Published
2023

33. Programmed death (PD)-1 inhibitors for advanced non-small cell lung cancer (NSCLC) in Ireland: a single centre experience

Author

Corrigan, L., primary, McMahon, E., additional, Flynn, C., additional, Dooley, G., additional, Desmond, H., additional, Harrold, E., additional, Sui, J., additional, Linehan, A., additional, Healy, L., additional, Komanyane, L., additional, Nevins Selvadurai, P., additional, Rahman, R., additional, Karadawi, N., additional, Kelly, C.M., additional, Gallagher, D.J., additional, Duffy, A.G., additional, McCaffrey, J.A., additional, Carney, D.N., additional, and Higgins, M.J., additional

Published
2018
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34. MA 04.10 An Assessment of the Willingness to Provide Serial Bio-Specimens: Experience from an Irish Tertiary Cancer Centre

Author

Baird, A., primary, Keegan, N., additional, Barr, M., additional, Fishleder, S., additional, Idris, A., additional, Harrold, E., additional, O'Kelly, P., additional, Duff, E., additional, Lim, S., additional, O'Donnell, M., additional, Gallagher, D., additional, Grant, C., additional, Kennedy, J., additional, O'Donnell, D., additional, Sukor, S., additional, O'Brien, C., additional, Finn, S., additional, and Cuffe, S., additional

Published
2017
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35. Reduced-intensity bevacizumab in progressive glioblastoma multiforme (GBM) is associated with similar overall survival versus standard-dosing

Author

Gleeson, J.P., primary, Keegan, N., additional, Harrold, E., additional, Kamel, D., additional, Karadawi, N., additional, Mammadov, E., additional, Kelly, D., additional, O'Leary, C., additional, O'Halloran, P., additional, Egan, K., additional, Molloy, S., additional, Mac Nally, S., additional, Hennessy, B.T., additional, Breathnach, O.S., additional, Grogan, W., additional, and Morris, P.G., additional

Published
2017
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38. 2632 VICTOR: Vinflunine in advanced metastatic transitional cell carcinoma of the urothelium (TCCU): A retrospective analysis of the use of Vinflunine in a multi-centre real life setting as second line chemotherapy through the free of charge programme (FOCP) for patients in the UK

Author

Hussain, S., primary, Jackson, R., additional, Chauhan, S., additional, Ansari, J., additional, Huddart, R., additional, Harrold, E., additional, Power, D., additional, Lyons, J., additional, Wylie, J., additional, Vilarino-Varela, M., additional, Wilkinson, D., additional, McMenemin, R., additional, Pickering, L., additional, and Faust, G., additional

Published
2015
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43. Targetting and guidance program documentation

Author

Harrold, E. F and Neyhard, J. F

Subjects
Space Sciences
Abstract

A FORTRAN computer program was developed which automatically targets two and three burn rendezvous missions and performs feedback guidance using the GUIDE algorithm. The program was designed to accept a large class of orbit specifications and to automatically choose a two or three burn mission depending upon the time alignment of the vehicle and target. The orbits may be specified as any combination of circular and elliptical orbits and may be coplanar or inclined, but must be aligned coaxially with their perigees in the same direction. The program accomplishes the required targeting by repeatedly converging successively more complex missions. It solves the coplanar impulsive version of the mission, then the finite burn coplanar mission, and finally, the full plane change mission. The GUIDE algorithm is exercised in a feedback guidance mode by taking the targeted solution and moving the vehicle state step by step ahead in time, adding acceleration and navigational errors, and reconverging from the perturbed states at fixed guidance update intervals. A program overview is presented, along with a user's guide which details input, output, and the various subroutines.

Published
1974

44. Rapid optimization of multiple-burn rocket flights.

Author

Brown, K. R, Harrold, E. F, and Johnson, G. W

Subjects
Space Sciences
Abstract

Different formulations of the fuel optimization problem for multiple burn trajectories are considered. It is shown that certain customary idealizing assumptions lead to an ill-posed optimization problem for which no solution exists. Several ways are discussed for avoiding such difficulties by more realistic problem statements. An iterative solution of the boundary value problem is presented together with efficient coast arc computations, the right end conditions for various orbital missions, and some test results.

Published
1972

47. Rapid optimization of multiple-burn rocket flights

Author

Brown, K. R, Harrold, E. F, and Johnson, G. W

Subjects
Space Vehicles
Abstract

Shooting method for real time optimization of multiple burn rocket flights, presenting analysis, algorithm and test results

Published
1969

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