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Page 1
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM, Thompson ML, Amaral MD, Finnila CR, Hiatt SM, Engel KL, Cochran JN, Brothers KB, East KM, Gray DE, Kelley WV, Lamb NE, Lose EJ, Rich CA, Simmons S, Whittle JS, Weaver BT, Nesmith AS, Myers RM, Barsh GS, Bebin EM, Cooper GM. Bowling KM, et al. Genome Med. 2017 May 30;9(1):43. doi: 10.1186/s13073-017-0433-1. Genome Med. 2017. PMID: 28554332 Free PMC article.
Oestrogen engages brain MC4R signalling to drive physical activity in female mice.
Krause WC, Rodriguez R, Gegenhuber B, Matharu N, Rodriguez AN, Padilla-Roger AM, Toma K, Herber CB, Correa SM, Duan X, Ahituv N, Tollkuhn J, Ingraham HA. Krause WC, et al. Nature. 2021 Nov;599(7883):131-135. doi: 10.1038/s41586-021-04010-3. Epub 2021 Oct 13. Nature. 2021. PMID: 34646010 Free PMC article.
Parlez-vous VUS?
Cooper GM. Cooper GM. Genome Res. 2015 Oct;25(10):1423-6. doi: 10.1101/gr.190116.115. Genome Res. 2015. PMID: 26430151 Free PMC article.
Uncovering drug-responsive regulatory elements.
Luizon MR, Ahituv N. Luizon MR, et al. Pharmacogenomics. 2015 Nov;16(16):1829-41. doi: 10.2217/pgs.15.121. Epub 2015 Nov 10. Pharmacogenomics. 2015. PMID: 26555224 Free PMC article. Review.
Limb development: a paradigm of gene regulation.
Petit F, Sears KE, Ahituv N. Petit F, et al. Nat Rev Genet. 2017 Apr;18(4):245-258. doi: 10.1038/nrg.2016.167. Epub 2017 Feb 6. Nat Rev Genet. 2017. PMID: 28163321 Review.
CRISPR-Cas9-mediated functional dissection of 3'-UTRs.
Zhao W, Siegel D, Biton A, Tonqueze OL, Zaitlen N, Ahituv N, Erle DJ. Zhao W, et al. Nucleic Acids Res. 2017 Oct 13;45(18):10800-10810. doi: 10.1093/nar/gkx675. Nucleic Acids Res. 2017. PMID: 28985357 Free PMC article.
32 results