Chen D - Search Results

1

Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism.

Wenderski W, Wang L, Krokhotin A, Walsh JJ, Li H, Shoji H, Ghosh S, George RD, Miller EL, Elias L, Gillespie MA, Son EY, Staahl BT, Baek ST, Stanley V, Moncada C, Shipony Z, Linker SB, Marchetto MCN, Gage FH, Chen D, Sultan T, Zaki MS, Ranish JA, Miyakawa T, Luo L, Malenka RC, Crabtree GR, Gleeson JG. Wenderski W, et al. Among authors: chen d. Proc Natl Acad Sci U S A. 2020 May 5;117(18):10055-10066. doi: 10.1073/pnas.1908238117. Epub 2020 Apr 20. Proc Natl Acad Sci U S A. 2020. PMID: 32312822 Free PMC article.

2

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

Lee S, Chen DY, Zaki MS, Maroofian R, Houlden H, Di Donato N, Abdin D, Morsy H, Mirzaa GM, Dobyns WB, McEvoy-Venneri J, Stanley V, James KN, Mancini GMS, Schot R, Kalayci T, Altunoglu U, Karimiani EG, Brick L, Kozenko M, Jamshidi Y, Manzini MC, Beiraghi Toosi M, Gleeson JG. Lee S, et al. Among authors: chen dy. Am J Hum Genet. 2019 Oct 3;105(4):844-853. doi: 10.1016/j.ajhg.2019.08.013. Am J Hum Genet. 2019. PMID: 31585108 Free PMC article.

3

Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.

Wang L, Li Z, Sievert D, Smith DEC, Mendes MI, Chen DY, Stanley V, Ghosh S, Wang Y, Kara M, Aslanger AD, Rosti RO, Houlden H, Salomons GS, Gleeson JG. Wang L, et al. Among authors: chen dy. Nat Commun. 2020 Aug 12;11(1):4038. doi: 10.1038/s41467-020-17454-4. Nat Commun. 2020. PMID: 32788587 Free PMC article.

4

Author Correction: Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.

Wang L, Li Z, Sievert D, Smith DEC, Mendes MI, Chen DY, Stanley V, Ghosh S, Wang Y, Kara M, Aslanger AD, Rosti RO, Houlden H, Salomons GS, Gleeson JG. Wang L, et al. Among authors: chen dy. Nat Commun. 2021 Feb 15;12(1):1192. doi: 10.1038/s41467-021-21448-1. Nat Commun. 2021. PMID: 33589599 Free PMC article. No abstract available.

5

Restricted diffusion of the callosal splenium is highly specific for seizures in neonates.

Nguyen L, Chen DY, Vinocur DN, Gold JJ. Nguyen L, et al. BMC Neurol. 2022 Dec 6;22(1):453. doi: 10.1186/s12883-022-02984-9. BMC Neurol. 2022. PMID: 36471320 Free PMC article.

6

Novel KRIT1/CCM1 heterozygous nonsense mutation (c.715 C>T) associated with cerebral and cerebellar cavernous malformations in a paediatric patient.

Chen DY, Crawford JR. Chen DY, et al. BMJ Case Rep. 2018 Jul 30;2018:bcr2018226246. doi: 10.1136/bcr-2018-226246. BMJ Case Rep. 2018. PMID: 30061145 Free PMC article. No abstract available.

7

Hodgkin's lymphoma in an adolescent previously treated with surgical resection of third ventricular juvenile pilocytic astrocytoma.

Chen DY, Crawford JR. Chen DY, et al. BMJ Case Rep. 2015 Jun 25;2015:bcr2015209343. doi: 10.1136/bcr-2015-209343. BMJ Case Rep. 2015. PMID: 26113587 Free PMC article.

8

Spontaneous aneurysmal subarachnoid haemorrhage in a child with multiply recurrent posterior fossa juvenile pilocytic astrocytoma.

Chen DY, Levy ML, Crawford JR. Chen DY, et al. BMJ Case Rep. 2016 Dec 7;2016:bcr2016217583. doi: 10.1136/bcr-2016-217583. BMJ Case Rep. 2016. PMID: 27927709 Free PMC article. No abstract available.

9

Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome.

Chen DY, Chowdhury S, Farnaes L, Friedman JR, Honold J, Dimmock DP, Gold OBOTRIJJ. Chen DY, et al. Pediatr Neurol. 2018 Sep;86:69-70. doi: 10.1016/j.pediatrneurol.2018.06.002. Epub 2018 Jul 10. Pediatr Neurol. 2018. PMID: 30107960 Free PMC article. No abstract available.

10

A Case of Tuberculosis-Associated Acute Disseminated Encephalomyelitis in a Seven-Month-Old Infant.

Yang JH, Vuong KT, Moodley A, Chuang NA, Chen DY. Yang JH, et al. Cureus. 2021 Jul 10;13(7):e16299. doi: 10.7759/cureus.16299. eCollection 2021 Jul. Cureus. 2021. PMID: 34381655 Free PMC article.

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