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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2012 1
2013 1
2014 1
2015 1
2016 3
2017 4
2018 6
2019 7
2020 3
2021 4
2022 4
2023 2
2024 4

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33 results

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Page 1
GNB5-Related Neurodevelopmental Disorder.
Poke G, Sadleir LG, Merla G, de Valles-Ibáñez G, Skinner JR. Poke G, et al. 2021 Aug 26 [updated 2021 Sep 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2021 Aug 26 [updated 2021 Sep 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 34436834 Free Books & Documents. Review.
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A; CAUSES Study; Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J; Genomics England Research Consortium; Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT. Chopra M, et al. Among authors: poke g. Am J Hum Genet. 2021 Jun 3;108(6):1138-1150. doi: 10.1016/j.ajhg.2021.04.007. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909992 Free PMC article.
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
Fennell AP, Baxter AE, Berkovic SF, Ellaway CJ, Forwood C, Hildebrand MS, Kumble S, McKeown C, Mowat D, Poke G, Rajagopalan S, Regan BM, Scheffer IE, Stark Z, Stutterd CA, Tan TY, Wilkins EJ, Yeung A, Hunter MF. Fennell AP, et al. Among authors: poke g. Am J Med Genet A. 2022 Dec;188(12):3432-3447. doi: 10.1002/ajmg.a.62950. Epub 2022 Aug 17. Am J Med Genet A. 2022. PMID: 36367278
WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects.
Yokote K, Chanprasert S, Lee L, Eirich K, Takemoto M, Watanabe A, Koizumi N, Lessel D, Mori T, Hisama FM, Ladd PD, Angle B, Baris H, Cefle K, Palanduz S, Ozturk S, Chateau A, Deguchi K, Easwar TK, Federico A, Fox A, Grebe TA, Hay B, Nampoothiri S, Seiter K, Streeten E, Piña-Aguilar RE, Poke G, Poot M, Posmyk R, Martin GM, Kubisch C, Schindler D, Oshima J. Yokote K, et al. Among authors: poke g. Hum Mutat. 2017 Jan;38(1):7-15. doi: 10.1002/humu.23128. Epub 2016 Oct 7. Hum Mutat. 2017. PMID: 27667302 Free PMC article. Review.
The epileptology of GNB5 encephalopathy.
Poke G, King C, Muir A, de Valles-Ibáñez G, Germano M, Moura de Souza CF, Fung J, Chung B, Fung CW, Mignot C, Ilea A, Keren B, Vermersch AI, Davis S, Stanley T, Moharir M, Kannu P, Shao Z, Malerba N, Merla G, Mefford HC, Scheffer IE, Sadleir LG. Poke G, et al. Epilepsia. 2019 Nov;60(11):e121-e127. doi: 10.1111/epi.16372. Epub 2019 Oct 20. Epilepsia. 2019. PMID: 31631344
Genotype and phenotype correlation of PHACTR1-related neurological disorders.
Xu Z, Sadleir L, Goel H, Jiao X, Niu Y, Zhou Z, de Valles-Ibáñez G, Poke G, Hildebrand M, Lieffering N, Qin J, Yang Z. Xu Z, et al. Among authors: poke g. J Med Genet. 2024 Jan 25:jmg-2023-109638. doi: 10.1136/jmg-2023-109638. Online ahead of print. J Med Genet. 2024. PMID: 38272663
A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders.
Theadom A, Rodrigues M, Poke G, O'Grady G, Love D, Hammond-Tooke G, Parmar P, Baker R, Feigin V, Jones K, Te Ao B, Ranta A, Roxburgh R; On Behalf of the MDPrev Research Group. Theadom A, et al. Among authors: poke g. Neuroepidemiology. 2019;52(3-4):128-135. doi: 10.1159/000494115. Epub 2019 Jan 18. Neuroepidemiology. 2019. PMID: 30661069 Free PMC article.
33 results