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Guidelines for investigating causality of sequence variants in human disease.
MacArthur DG, Manolio TA, Dimmock DP, Rehm HL, Shendure J, Abecasis GR, Adams DR, Altman RB, Antonarakis SE, Ashley EA, Barrett JC, Biesecker LG, Conrad DF, Cooper GM, Cox NJ, Daly MJ, Gerstein MB, Goldstein DB, Hirschhorn JN, Leal SM, Pennacchio LA, Stamatoyannopoulos JA, Sunyaev SR, Valle D, Voight BF, Winckler W, Gunter C. MacArthur DG, et al. Among authors: cooper gm. Nature. 2014 Apr 24;508(7497):469-76. doi: 10.1038/nature13127. Nature. 2014. PMID: 24759409 Free PMC article.
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR. Hannes FD, et al. Among authors: cooper gm. J Med Genet. 2009 Apr;46(4):223-32. doi: 10.1136/jmg.2007.055202. Epub 2008 Jun 11. J Med Genet. 2009. PMID: 18550696 Free PMC article.
Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
Hiatt SM, Lawlor JMJ, Handley LH, Latner DR, Bonnstetter ZT, Finnila CR, Thompson ML, Boston LB, Williams M, Nunez IR, Jenkins J, Kelley WV, Bebin EM, Lopez MA, Hurst ACE, Korf BR, Schmutz J, Grimwood J, Cooper GM. Hiatt SM, et al. Among authors: cooper gm. medRxiv [Preprint]. 2024 Mar 26:2024.03.22.24304633. doi: 10.1101/2024.03.22.24304633. medRxiv. 2024. PMID: 38585854 Free PMC article. Preprint.
Allele biased transcription factor binding across human brain regions gives mechanistic insight into eQTLs.
Moyers BA, Loupe JM, Felker SA, Lawlor JMJ, Anderson AG, Rodriguez-Nunez I, Bunney WE, Bunney BG, Cartagena PM, Sequeira A, Watson SJ, Akil H, Mendenhall EM, Cooper GM, Myers RM. Moyers BA, et al. Among authors: cooper gm. bioRxiv [Preprint]. 2023 Oct 9:2023.10.06.561245. doi: 10.1101/2023.10.06.561245. bioRxiv. 2023. PMID: 37873117 Free PMC article. Preprint.
454 results