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Genetic Ablation of GIGYF1, Associated With Autism, Causes Behavioral and Neurodevelopmental Defects in Zebrafish and Mice.
Ding Z, Huang G, Wang T, Duan W, Li H, Wang Y, Jia H, Yang Z, Wang K, Chu X, Kurtz-Nelson EC, Ahlers K, Earl RK, Han Y, Feliciano P, Chung WK, Eichler EE, Jiang M, Xiong B. Ding Z, et al. Among authors: eichler ee. Biol Psychiatry. 2023 Nov 15;94(10):769-779. doi: 10.1016/j.biopsych.2023.02.993. Epub 2023 Mar 15. Biol Psychiatry. 2023. PMID: 36924980
Characterizing Sensory Phenotypes of Subgroups with a Known Genetic Etiology Pertaining to Diagnoses of Autism Spectrum Disorder and Intellectual Disability.
Hudac CM, Friedman NR, Ward VR, Estreicher RE, Dorsey GC, Bernier RA, Kurtz-Nelson EC, Earl RK, Eichler EE, Neuhaus E. Hudac CM, et al. Among authors: eichler ee. J Autism Dev Disord. 2023 Apr 8:1-16. doi: 10.1007/s10803-023-05897-9. Online ahead of print. J Autism Dev Disord. 2023. PMID: 37031308 Free PMC article.
Diversity of human copy number variation and multicopy genes.
Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J; 1000 Genomes Project; Eichler EE. Sudmant PH, et al. Among authors: eichler ee. Science. 2010 Oct 29;330(6004):641-6. doi: 10.1126/science.1197005. Science. 2010. PMID: 21030649 Free PMC article.
Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus.
Paparella A, L'Abbate A, Palmisano D, Chirico G, Porubsky D, Catacchio CR, Ventura M, Eichler EE, Maggiolini FAM, Antonacci F. Paparella A, et al. Among authors: eichler ee. Int J Mol Sci. 2023 Oct 31;24(21):15818. doi: 10.3390/ijms242115818. Int J Mol Sci. 2023. PMID: 37958807 Free PMC article.
Telomere-to-telomere assembly of diploid chromosomes with Verkko.
Rautiainen M, Nurk S, Walenz BP, Logsdon GA, Porubsky D, Rhie A, Eichler EE, Phillippy AM, Koren S. Rautiainen M, et al. Among authors: eichler ee. Nat Biotechnol. 2023 Oct;41(10):1474-1482. doi: 10.1038/s41587-023-01662-6. Epub 2023 Feb 16. Nat Biotechnol. 2023. PMID: 36797493 Free PMC article.
600 results