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Page 1
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy.
Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein U, Haack TB, Heinritz W, Matzker E, Alhaddad B, Abou Jamra R, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R; Genomics England Research Consortium; Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB. Paul MS, et al. Am J Hum Genet. 2023 Jan 5;110(1):120-145. doi: 10.1016/j.ajhg.2022.11.011. Epub 2022 Dec 16. Am J Hum Genet. 2023. PMID: 36528028 Free PMC article.
Mapping mania symptoms based on focal brain damage.
Cotovio G, Talmasov D, Barahona-Corrêa JB, Hsu J, Senova S, Ribeiro R, Soussand L, Velosa A, Silva VCE, Rost N, Wu O, Cohen AL, Oliveira-Maia AJ, Fox MD. Cotovio G, et al. J Clin Invest. 2020 Oct 1;130(10):5209-5222. doi: 10.1172/JCI136096. J Clin Invest. 2020. PMID: 32831292 Free PMC article.
Functional Territories of Human Dentate Nucleus.
Guell X, D'Mello AM, Hubbard NA, Romeo RR, Gabrieli JDE, Whitfield-Gabrieli S, Schmahmann JD, Anteraper SA. Guell X, et al. Cereb Cortex. 2020 Apr 14;30(4):2401-2417. doi: 10.1093/cercor/bhz247. Cereb Cortex. 2020. PMID: 31701117 Free PMC article.
Longform recordings of everyday life: Ethics for best practices.
Cychosz M, Romeo R, Soderstrom M, Scaff C, Ganek H, Cristia A, Casillas M, de Barbaro K, Bang JY, Weisleder A. Cychosz M, et al. Behav Res Methods. 2020 Oct;52(5):1951-1969. doi: 10.3758/s13428-020-01365-9. Behav Res Methods. 2020. PMID: 32103465 Free PMC article.
Balancing serendipity and reproducibility: Pluripotent stem cells as experimental systems for intellectual and developmental disorders.
Anderson NC, Chen PF, Meganathan K, Afshar Saber W, Petersen AJ, Bhattacharyya A, Kroll KL, Sahin M; Cross-IDDRC Human Stem Cell Working Group. Anderson NC, et al. Stem Cell Reports. 2021 Jun 8;16(6):1446-1457. doi: 10.1016/j.stemcr.2021.03.025. Epub 2021 Apr 15. Stem Cell Reports. 2021. PMID: 33861989 Free PMC article. Review.
Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies.
Haviland I, Daniels CI, Greene CA, Drew J, Love-Nichols JA, Swanson LC, Smith L, Nie DA, Benke T, Sheidley BR, Zhang B, Poduri A, Olson HE. Haviland I, et al. Pediatr Neurol. 2023 Jan;138:71-80. doi: 10.1016/j.pediatrneurol.2022.10.006. Epub 2022 Oct 26. Pediatr Neurol. 2023. PMID: 36403551 Free PMC article.
43 results