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

Year Number of Results
1993 1
1996 1
2002 2
2010 1
2012 1
2013 1
2014 1
2015 1
2016 1
2018 3
2019 3
2020 3
2021 2
2022 3
2023 1
2024 0

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PubMed for id: 89839

20 results

Results by year

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Page 1
De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes.
Vadgama N, Pittman A, Simpson M, Nirmalananthan N, Murray R, Yoshikawa T, De Rijk P, Rees E, Kirov G, Hughes D, Fitzgerald T, Kristiansen M, Pearce K, Cerveira E, Zhu Q, Zhang C, Lee C, Hardy J, Nasir J. Vadgama N, et al. Eur J Hum Genet. 2019 Jul;27(7):1121-1133. doi: 10.1038/s41431-019-0376-7. Epub 2019 Mar 18. Eur J Hum Genet. 2019. PMID: 30886340 Free PMC article. Clinical Trial.
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Leblond CS, Heinrich J, Delorme R, Proepper C, Betancur C, Huguet G, Konyukh M, Chaste P, Ey E, Rastam M, Anckarsäter H, Nygren G, Gillberg IC, Melke J, Toro R, Regnault B, Fauchereau F, Mercati O, Lemière N, Skuse D, Poot M, Holt R, Monaco AP, Järvelä I, Kantojärvi K, Vanhala R, Curran S, Collier DA, Bolton P, Chiocchetti A, Klauck SM, Poustka F, Freitag CM, Waltes R, Kopp M, Duketis E, Bacchelli E, Minopoli F, Ruta L, Battaglia A, Mazzone L, Maestrini E, Sequeira AF, Oliveira B, Vicente A, Oliveira G, Pinto D, Scherer SW, Zelenika D, Delepine M, Lathrop M, Bonneau D, Guinchat V, Devillard F, Assouline B, Mouren MC, Leboyer M, Gillberg C, Boeckers TM, Bourgeron T. Leblond CS, et al. PLoS Genet. 2012 Feb;8(2):e1002521. doi: 10.1371/journal.pgen.1002521. Epub 2012 Feb 9. PLoS Genet. 2012. PMID: 22346768 Free PMC article.
Human-specific gene ARHGAP11B promotes basal progenitor amplification and neocortex expansion.
Florio M, Albert M, Taverna E, Namba T, Brandl H, Lewitus E, Haffner C, Sykes A, Wong FK, Peters J, Guhr E, Klemroth S, Prüfer K, Kelso J, Naumann R, Nüsslein I, Dahl A, Lachmann R, Pääbo S, Huttner WB. Florio M, et al. Science. 2015 Mar 27;347(6229):1465-70. doi: 10.1126/science.aaa1975. Epub 2015 Feb 26. Science. 2015. PMID: 25721503
Human-Specific ARHGAP11B Acts in Mitochondria to Expand Neocortical Progenitors by Glutaminolysis.
Namba T, Dóczi J, Pinson A, Xing L, Kalebic N, Wilsch-Bräuninger M, Long KR, Vaid S, Lauer J, Bogdanova A, Borgonovo B, Shevchenko A, Keller P, Drechsel D, Kurzchalia T, Wimberger P, Chinopoulos C, Huttner WB. Namba T, et al. Neuron. 2020 Mar 4;105(5):867-881.e9. doi: 10.1016/j.neuron.2019.11.027. Epub 2019 Dec 26. Neuron. 2020. PMID: 31883789 Free article.
A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy.
Speed D, Hoggart C, Petrovski S, Tachmazidou I, Coffey A, Jorgensen A, Eleftherohorinou H, De Iorio M, Todaro M, De T, Smith D, Smith PE, Jackson M, Cooper P, Kellett M, Howell S, Newton M, Yerra R, Tan M, French C, Reuber M, Sills GE, Chadwick D, Pirmohamed M, Bentley D, Scheffer I, Berkovic S, Balding D, Palotie A, Marson A, O'Brien TJ, Johnson MR. Speed D, et al. Hum Mol Genet. 2014 Jan 1;23(1):247-58. doi: 10.1093/hmg/ddt403. Epub 2013 Aug 19. Hum Mol Genet. 2014. PMID: 23962720 Free PMC article.
20 results