Saffen D - Search Results

1

Allele-Specific Regulation of the Candidate Autism Liability Gene RAI1 by the Enhancer Variant rs4925102 (C/G).

Yuan X, Chen L, Saffen D. Yuan X, et al. Among authors: saffen d. Genes (Basel). 2024 Apr 6;15(4):460. doi: 10.3390/genes15040460. Genes (Basel). 2024. PMID: 38674394 Free PMC article.

2

Skewed allele-specific expression of the NF1 gene in normal subjects: a possible mechanism for phenotypic variability in neurofibromatosis type 1.

Jentarra GM, Rice SG, Olfers S, Rajan C, Saffen DM, Narayanan V. Jentarra GM, et al. J Child Neurol. 2012 Jun;27(6):695-702. doi: 10.1177/0883073811423439. Epub 2011 Nov 8. J Child Neurol. 2012. PMID: 22068829

3

RNA binding motif protein 10 suppresses lung cancer progression by controlling alternative splicing of eukaryotic translation initiation factor 4H.

Zhang S, Bao Y, Shen X, Pan Y, Sun Y, Xiao M, Chen K, Wei H, Zuo J, Saffen D, Zong WX, Sun Y, Wang Z, Wang Y. Zhang S, et al. Among authors: saffen d. EBioMedicine. 2020 Nov;61:103067. doi: 10.1016/j.ebiom.2020.103067. Epub 2020 Oct 23. EBioMedicine. 2020. PMID: 33130397 Free PMC article.

4

A multiple coefficient of determination-based method for parsing SNPs that correlate with mRNA expression.

Song F, Tao Y, Sun Y, Saffen D. Song F, et al. Among authors: saffen d. Sci Rep. 2019 Dec 27;9(1):20110. doi: 10.1038/s41598-019-56494-9. Sci Rep. 2019. PMID: 31882953 Free PMC article.

5

Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

Chen L, Jensik PJ, Alaimo JT, Walkiewicz M, Berger S, Roeder E, Faqeih EA, Bernstein JA, Smith ACM, Mullegama SV, Saffen DW, Elsea SH. Chen L, et al. Among authors: saffen dw. Hum Mutat. 2017 Dec;38(12):1774-1785. doi: 10.1002/humu.23339. Epub 2017 Sep 23. Hum Mutat. 2017. PMID: 28940898 Free PMC article.

6

Autoregulation of RBM10 and cross-regulation of RBM10/RBM5 via alternative splicing-coupled nonsense-mediated decay.

Sun Y, Bao Y, Han W, Song F, Shen X, Zhao J, Zuo J, Saffen D, Chen W, Wang Z, You X, Wang Y. Sun Y, et al. Among authors: saffen d. Nucleic Acids Res. 2017 Aug 21;45(14):8524-8540. doi: 10.1093/nar/gkx508. Nucleic Acids Res. 2017. PMID: 28586478 Free PMC article.

7

Functional analysis reveals that RBM10 mutations contribute to lung adenocarcinoma pathogenesis by deregulating splicing.

Zhao J, Sun Y, Huang Y, Song F, Huang Z, Bao Y, Zuo J, Saffen D, Shao Z, Liu W, Wang Y. Zhao J, et al. Among authors: saffen d. Sci Rep. 2017 Jan 16;7:40488. doi: 10.1038/srep40488. Sci Rep. 2017. PMID: 28091594 Free PMC article.

8

Evidence for contribution of common genetic variants within chromosome 8p21.2-8p21.1 to restricted and repetitive behaviors in autism spectrum disorders.

Tao Y, Gao H, Ackerman B, Guo W, Saffen D, Shugart YY. Tao Y, et al. Among authors: saffen d. BMC Genomics. 2016 Mar 1;17:163. doi: 10.1186/s12864-016-2475-y. BMC Genomics. 2016. PMID: 26931105 Free PMC article.

9

Evidence for genetic regulation of mRNA expression of the dosage-sensitive gene retinoic acid induced-1 (RAI1) in human brain.

Chen L, Tao Y, Song F, Yuan X, Wang J, Saffen D. Chen L, et al. Among authors: saffen d. Sci Rep. 2016 Jan 8;6:19010. doi: 10.1038/srep19010. Sci Rep. 2016. PMID: 26743651 Free PMC article.

10

Psychiatric genetics in China: achievements and challenges.

Liu C, Saffen D, Schulze TG, Burmeister M, Sham PC, Yao YG, Kuo PH, Chen C, An Y, Dai J, Yue W, Li MX, Xue H, Su B, Chen L, Shi Y, Qiao M, Liu T, Xia K, Chan RCK. Liu C, et al. Among authors: saffen d. Mol Psychiatry. 2016 Jan;21(1):4-9. doi: 10.1038/mp.2015.95. Epub 2015 Oct 20. Mol Psychiatry. 2016. PMID: 26481319 Free PMC article.

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