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Showing results for uk m wakeling[Author]
Your search for J M Wakeling[Author] retrieved no results
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Calame DG, et al. Among authors: wakeling e. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. Epub 2023 Jul 18. Am J Hum Genet. 2023. PMID: 37467750 Free PMC article.
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Sanchis-Juan A, Megy K, Stephens J, Armirola Ricaurte C, Dewhurst E, Low K, French CE, Grozeva D, Stirrups K, Erwood M, McTague A, Penkett CJ, Shamardina O, Tuna S, Daugherty LC, Gleadall N, Duarte ST, Hedrera-Fernández A, Vogt J, Ambegaonkar G, Chitre M, Josifova D, Kurian MA, Parker A, Rankin J, Reid E, Wakeling E, Wassmer E, Woods CG; NIHR BioResource; Raymond FL, Carss KJ. Sanchis-Juan A, et al. Among authors: wakeling e. Am J Hum Genet. 2023 Aug 3;110(8):1343-1355. doi: 10.1016/j.ajhg.2023.07.007. Am J Hum Genet. 2023. PMID: 37541188 Free PMC article.
Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review.
Sabanathan S, Gulhane D, Mankad K, Davison J, Ong MT, Phadke R, Robinson R, Spiller M, Wakeling E, Ramdas S, Brady AF, Balasubramanian M, Munot P. Sabanathan S, et al. Among authors: wakeling e. Neuromuscul Disord. 2023 Jan;33(1):50-57. doi: 10.1016/j.nmd.2022.10.004. Epub 2022 Oct 25. Neuromuscul Disord. 2023. PMID: 36522252 Review.
Human inherited PD-L1 deficiency is clinically and immunologically less severe than PD-1 deficiency.
Johnson MB, Ogishi M, Domingo-Vila C, De Franco E, Wakeling MN, Imane Z, Resnick B, Williams E, Galão RP, Caswell R, Russ-Silsby J, Seeleuthner Y, Rinchai D, Fagniez I, Benson B, Dufort MJ, Speake C, Smithmyer ME, Hudson M, Dobbs R; EXE-T1D consortium; Quandt Z, Hattersley AT, Zhang P, Boisson-Dupuis S, Anderson MS, Casanova JL, Tree TI, Oram RA. Johnson MB, et al. Among authors: wakeling mn. J Exp Med. 2024 Jun 3;221(6):e20231704. doi: 10.1084/jem.20231704. Epub 2024 Apr 18. J Exp Med. 2024. PMID: 38634869 Free PMC article.
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Sidpra J, Sudhakar S, Biswas A, Massey F, Turchetti V, Lau T, Cook E, Alvi JR, Elbendary HM, Jewell JL, Riva A, Orsini A, Vignoli A, Federico Z, Rosenblum J, Schoonjans AS, de Wachter M, Delgado Alvarez I, Felipe-Rucián A, Haridy NA, Haider S, Zaman M, Banu S, Anwaar N, Rahman F, Maqbool S, Yadav R, Salpietro V, Maroofian R, Patel R, Radhakrishnan R, Prabhu SP, Lichtenbelt K, Stewart H, Murakami Y, Löbel U, D'Arco F, Wakeling E, Jones W, Hay E, Bhate S, Jacques TS, Mirsky DM, Whitehead MT, Zaki MS, Sultan T, Striano P, Jansen AC, Lequin M, de Vries LS, Severino M, Edmondson AC, Menzies L, Campeau PM, Houlden H, McTague A, Efthymiou S, Mankad K. Sidpra J, et al. Among authors: wakeling e. Brain. 2024 Mar 8:awae056. doi: 10.1093/brain/awae056. Online ahead of print. Brain. 2024. PMID: 38456468 Free article.
Whole body vibration exercise: are vibrations good for you?
Cardinale M, Wakeling J. Cardinale M, et al. Among authors: wakeling j. Br J Sports Med. 2005 Sep;39(9):585-9; discussion 589. doi: 10.1136/bjsm.2005.016857. Br J Sports Med. 2005. PMID: 16118292 Free PMC article. Review.
MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.
Iacovazzo D, Flanagan SE, Walker E, Quezado R, de Sousa Barros FA, Caswell R, Johnson MB, Wakeling M, Brändle M, Guo M, Dang MN, Gabrovska P, Niederle B, Christ E, Jenni S, Sipos B, Nieser M, Frilling A, Dhatariya K, Chanson P, de Herder WW, Konukiewitz B, Klöppel G, Stein R, Korbonits M, Ellard S. Iacovazzo D, et al. Among authors: wakeling m. Proc Natl Acad Sci U S A. 2018 Jan 30;115(5):1027-1032. doi: 10.1073/pnas.1712262115. Epub 2018 Jan 16. Proc Natl Acad Sci U S A. 2018. PMID: 29339498 Free PMC article.
Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling.
Hanson D, Murray PG, Coulson T, Sud A, Omokanye A, Stratta E, Sakhinia F, Bonshek C, Wilson LC, Wakeling E, Temtamy SA, Aglan M, Rosser EM, Mansour S, Carcavilla A, Nampoothiri S, Khan WI, Banerjee I, Chandler KE, Black GC, Clayton PE. Hanson D, et al. Among authors: wakeling e. J Mol Endocrinol. 2012 Oct 30;49(3):267-75. doi: 10.1530/JME-12-0034. Print 2012 Dec. J Mol Endocrinol. 2012. PMID: 23018678
3-M syndrome is a primordial growth disorder caused by mutations in CUL7, OBSL1 or CCDC8. 3-M patients typically have a modest response to GH treatment, but the mechanism is unknown. Our aim was to screen 13 clinically identified 3-M families for mutations, d …
3-M syndrome is a primordial growth disorder caused by mutations in CUL7, OBSL1 or CCDC8. 3-M patients typically have a modest …
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, Zhao M, Weng C, Stefan PG, Ahlfors H, Kleyner R, Rope A, Lumaka A, Lukusa P, Devriendt K, Vermeesch J, Posey JE, Palmer EE, Murray L, Leon E, Diaz J, Worgan L, Mallawaarachchi A, Vogt J, de Munnik SA, Dreyer L, Baynam G, Ewans L, Stark Z, Lunke S, Gonçalves AR, Soares G, Oliveira J, Fassi E, Willing M, Waugh JL, Faivre L, Riviere JB, Moutton S, Mohammed S, Payne K, Walsh L, Begtrup A, Guillen Sacoto MJ, Douglas G, Alexander N, Buckley MF, Mark PR, Adès LC, Sandaradura SA, Lupski JR, Roscioli T, Agrawal PB, Kline AD; Deciphering Developmental Disorders Study; Wang K, Timmers HTM, Lyon GJ. Cheng H, et al. Among authors: wakeling e. Hum Mutat. 2019 Oct 23:10.1002/humu.23936. doi: 10.1002/humu.23936. Online ahead of print. Hum Mutat. 2019. PMID: 31646703 Free PMC article.
17 results