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GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. Platzer K, et al. Among authors: smith dr. J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4. J Med Genet. 2017. PMID: 28377535 Free PMC article.
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.
Heyne HO, Artomov M, Battke F, Bianchini C, Smith DR, Liebmann N, Tadigotla V, Stanley CM, Lal D, Rehm H, Lerche H, Daly MJ, Helbig I, Biskup S, Weber YG, Lemke JR. Heyne HO, et al. Among authors: smith dr. Genet Med. 2019 Nov;21(11):2496-2503. doi: 10.1038/s41436-019-0531-0. Epub 2019 May 6. Genet Med. 2019. PMID: 31056551 Free article.
Metagenomic analysis of medicinal Cannabis samples; pathogenic bacteria, toxigenic fungi, and beneficial microbes grow in culture-based yeast and mold tests.
McKernan K, Spangler J, Helbert Y, Lynch RC, Devitt-Lee A, Zhang L, Orphe W, Warner J, Foss T, Hudalla CJ, Silva M, Smith DR. McKernan K, et al. Among authors: smith dr. F1000Res. 2016 Oct 7;5:2471. doi: 10.12688/f1000research.9662.1. eCollection 2016. F1000Res. 2016. PMID: 27853518 Free PMC article.
Climate change, malaria and neglected tropical diseases: a scoping review.
Klepac P, Hsieh JL, Ducker CL, Assoum M, Booth M, Byrne I, Dodson S, Martin DL, Turner CMR, van Daalen KR, Abela B, Akamboe J, Alves F, Brooker SJ, Ciceri-Reynolds K, Cole J, Desjardins A, Drakeley C, Ediriweera DS, Ferguson NM, Gabrielli AF, Gahir J, Jain S, John MR, Juma E, Kanayson P, Deribe K, King JD, Kipingu AM, Kiware S, Kolaczinski J, Kulei WJ, Laizer TL, Lal V, Lowe R, Maige JS, Mayer S, McIver L, Mosser JF, Nicholls RS, Nunes-Alves C, Panjwani J, Parameswaran N, Polson K, Radoykova HS, Ramani A, Reimer LJ, Reynolds ZM, Ribeiro I, Robb A, Sanikullah KH, Smith DRM, Shirima GG, Shott JP, Tidman R, Tribe L, Turner J, Vaz Nery S, Velayudhan R, Warusavithana S, Wheeler HS, Yajima A, Abdilleh AR, Hounkpatin B, Wangmo D, Whitty CJM, Campbell-Lendrum D, Hollingsworth TD, Solomon AW, Fall IS. Klepac P, et al. Among authors: smith drm. Trans R Soc Trop Med Hyg. 2024 May 10:trae026. doi: 10.1093/trstmh/trae026. Online ahead of print. Trans R Soc Trop Med Hyg. 2024. PMID: 38724044
1,779 results