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Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development.
Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN, Hill RS, Shin T, Chen AY, Doan RN, Anttonen AK, Ignatius J, Medne L, Bönnemann CG, Hecht JL, Salonen O, Barkovich AJ, Poduri A, Wilke M, de Wit MCY, Mancini GMS, Sztriha L, Im K, Amrom D, Andermann E, Paetau R, Lehesjoki AE, Walsh CA, Lehtinen MK. Smith RS, et al. Among authors: doan rn. Neuron. 2018 Sep 5;99(5):905-913.e7. doi: 10.1016/j.neuron.2018.07.052. Epub 2018 Aug 23. Neuron. 2018. PMID: 30146301 Free PMC article.
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
Doan RN, Bae BI, Cubelos B, Chang C, Hossain AA, Al-Saad S, Mukaddes NM, Oner O, Al-Saffar M, Balkhy S, Gascon GG; Homozygosity Mapping Consortium for Autism; Nieto M, Walsh CA. Doan RN, et al. Cell. 2016 Oct 6;167(2):341-354.e12. doi: 10.1016/j.cell.2016.08.071. Epub 2016 Sep 22. Cell. 2016. PMID: 27667684 Free PMC article.
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.
Schmitz-Abe K, Sanchez-Schmitz G, Doan RN, Hill RS, Chahrour MH, Mehta BK, Servattalab S, Ataman B, Lam AN, Morrow EM, Greenberg ME, Yu TW, Walsh CA, Markianos K. Schmitz-Abe K, et al. Among authors: doan rn. Sci Rep. 2020 Aug 20;10(1):14045. doi: 10.1038/s41598-020-70656-0. Sci Rep. 2020. PMID: 32820185 Free PMC article.
Polymicrogyria is Associated With Pathogenic Variants in PTEN.
Shao DD, Achkar CM, Lai A, Srivastava S, Doan RN, Rodan LH, Chen AY; Brain Development Study Group; Poduri A, Yang E, Walsh CA. Shao DD, et al. Among authors: doan rn. Ann Neurol. 2020 Dec;88(6):1153-1164. doi: 10.1002/ana.25904. Epub 2020 Oct 8. Ann Neurol. 2020. PMID: 32959437 Free PMC article.
47 results