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2000 1
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41 results

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Page 1
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6. Nature. 2020. PMID: 32499645 Free PMC article.
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.
Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, Carmichael J, Chitre M, Henderson RHH, Hurst J, MacLaren RE, Murphy E, Paterson J, Rosser E, Thompson DA, Wakeling E, Ouwehand WH, Michaelides M, Moore AT; NIHR-BioResource Rare Diseases Consortium; Webster AR, Raymond FL. Carss KJ, et al. Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29. Am J Hum Genet. 2017. PMID: 28041643 Free PMC article.
Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia.
Schon K, van Os NJH, Oscroft N, Baxendale H, Scoffings D, Ray J, Suri M, Whitehouse WP, Mehta PR, Everett N, Bottolo L, van de Warrenburg BP, Byrd PJ, Weemaes C, Willemsen MA, Tischkowitz M, Taylor AM, Hensiek AE. Schon K, et al. Among authors: hensiek ae. Ann Neurol. 2019 Feb;85(2):170-180. doi: 10.1002/ana.25394. Ann Neurol. 2019. PMID: 30549301 Free PMC article.
Repeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British population.
Lam T, Rocca C, Ibanez K, Dalmia A, Tallman S, Hadjivassiliou M, Hensiek A, Nemeth A, Facchini S; Genomics England Research Consortium; Wood N, Cortese A, Houlden H, Tucci A. Lam T, et al. Among authors: hensiek a. Brain Commun. 2023 Sep 14;5(5):fcad244. doi: 10.1093/braincomms/fcad244. eCollection 2023. Brain Commun. 2023. PMID: 37810464 Free PMC article.
Relevance of new psychotropic drugs for the neurologist.
Hensiek AE, Trimble MR. Hensiek AE, et al. J Neurol Neurosurg Psychiatry. 2002 Mar;72(3):281-5. doi: 10.1136/jnnp.72.3.281. J Neurol Neurosurg Psychiatry. 2002. PMID: 11861679 Free PMC article. Review. No abstract available.
Radiation treatment of benign tumors in NF2-related-schwannomatosis: A national study of 266 irradiated patients showing a significant increase in malignancy/malignant progression.
Evans DG, Halliday D, Obholzer R, Afridi S, Forde C, Rutherford SA, Hammerbeck-Ward C, Lloyd SK, Freeman SM, Pathmanaban ON, Thomas OM, Laitt RD, Stivaros S, Kilday JP, Vassallo G, McBain C, Lavin T, Paterson C, Whitfield G, McCabe MG, Axon PR, Halliday J, Mackeith S, Parry A; English Specialist NF2 Research Group; Harkness EF, Buttimore J, King AT. Evans DG, et al. Neurooncol Adv. 2023 Mar 11;5(1):vdad025. doi: 10.1093/noajnl/vdad025. eCollection 2023 Jan-Dec. Neurooncol Adv. 2023. PMID: 37051330 Free PMC article.
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F; Primary Immunodeficiency Consortium for the NIHR Bioresource; Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC. Thaventhiran JED, et al. Nature. 2020 Aug;584(7819):E2. doi: 10.1038/s41586-020-2556-6. Nature. 2020. PMID: 32678341
41 results