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641 results

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Page 1
Genomic studies in fragile X premutation carriers.
Lozano R, Hagerman RJ, Duyzend M, Budimirovic DB, Eichler EE, Tassone F. Lozano R, et al. Among authors: eichler ee. J Neurodev Disord. 2014;6(1):27. doi: 10.1186/1866-1955-6-27. Epub 2014 Jul 30. J Neurodev Disord. 2014. PMID: 25170347 Free PMC article.
Global increases in both common and rare copy number load associated with autism.
Girirajan S, Johnson RL, Tassone F, Balciuniene J, Katiyar N, Fox K, Baker C, Srikanth A, Yeoh KH, Khoo SJ, Nauth TB, Hansen R, Ritchie M, Hertz-Picciotto I, Eichler EE, Pessah IN, Selleck SB. Girirajan S, et al. Among authors: eichler ee. Hum Mol Genet. 2013 Jul 15;22(14):2870-80. doi: 10.1093/hmg/ddt136. Epub 2013 Mar 27. Hum Mol Genet. 2013. PMID: 23535821 Free PMC article.
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.
Turner TN, Hormozdiari F, Duyzend MH, McClymont SA, Hook PW, Iossifov I, Raja A, Baker C, Hoekzema K, Stessman HA, Zody MC, Nelson BJ, Huddleston J, Sandstrom R, Smith JD, Hanna D, Swanson JM, Faustman EM, Bamshad MJ, Stamatoyannopoulos J, Nickerson DA, McCallion AS, Darnell R, Eichler EE. Turner TN, et al. Among authors: eichler ee. Am J Hum Genet. 2016 Jan 7;98(1):58-74. doi: 10.1016/j.ajhg.2015.11.023. Epub 2015 Dec 31. Am J Hum Genet. 2016. PMID: 26749308 Free PMC article.
The birth of a human-specific neural gene by incomplete duplication and gene fusion.
Dougherty ML, Nuttle X, Penn O, Nelson BJ, Huddleston J, Baker C, Harshman L, Duyzend MH, Ventura M, Antonacci F, Sandstrom R, Dennis MY, Eichler EE. Dougherty ML, et al. Among authors: eichler ee. Genome Biol. 2017 Mar 9;18(1):49. doi: 10.1186/s13059-017-1163-9. Genome Biol. 2017. PMID: 28279197 Free PMC article.
Prospective investigation of FOXP1 syndrome.
Siper PM, De Rubeis S, Trelles MDP, Durkin A, Di Marino D, Muratet F, Frank Y, Lozano R, Eichler EE, Kelly M, Beighley J, Gerdts J, Wallace AS, Mefford HC, Bernier RA, Kolevzon A, Buxbaum JD. Siper PM, et al. Among authors: eichler ee. Mol Autism. 2017 Oct 24;8:57. doi: 10.1186/s13229-017-0172-6. eCollection 2017. Mol Autism. 2017. PMID: 29090079 Free PMC article.
Longitudinal report of child with de novo 16p11.2 triplication.
Wallace AS, Hudac CM, Steinman KJ, Peterson JL, DesChamps TD, Duyzend MH, Nuttle X, Eichler EE, Bernier RA. Wallace AS, et al. Among authors: eichler ee. Clin Case Rep. 2017 Dec 6;6(1):147-154. doi: 10.1002/ccr3.1236. eCollection 2018 Jan. Clin Case Rep. 2017. PMID: 29375855 Free PMC article.
641 results