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Three-dimensional genome rewiring in loci with human accelerated regions.
Keough KC, Whalen S, Inoue F, Przytycki PF, Fair T, Deng C, Steyert M, Ryu H, Lindblad-Toh K, Karlsson E; Zoonomia Consortium§; Nowakowski T, Ahituv N, Pollen A, Pollard KS. Keough KC, et al. Among authors: ahituv n. Science. 2023 Apr 28;380(6643):eabm1696. doi: 10.1126/science.abm1696. Epub 2023 Apr 28. Science. 2023. PMID: 37104607 Free PMC article.
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P. Melchionda S, et al. Among authors: ahituv n. Am J Hum Genet. 2001 Sep;69(3):635-40. doi: 10.1086/323156. Epub 2001 Jul 20. Am J Hum Genet. 2001. PMID: 11468689 Free PMC article.
The Notch ligand Jagged1 is required for inner ear sensory development.
Kiernan AE, Ahituv N, Fuchs H, Balling R, Avraham KB, Steel KP, Hrabé de Angelis M. Kiernan AE, et al. Among authors: ahituv n. Proc Natl Acad Sci U S A. 2001 Mar 27;98(7):3873-8. doi: 10.1073/pnas.071496998. Epub 2001 Mar 20. Proc Natl Acad Sci U S A. 2001. PMID: 11259677 Free PMC article.
Medical sequencing at the extremes of human body mass.
Ahituv N, Kavaslar N, Schackwitz W, Ustaszewska A, Martin J, Hebert S, Doelle H, Ersoy B, Kryukov G, Schmidt S, Yosef N, Ruppin E, Sharan R, Vaisse C, Sunyaev S, Dent R, Cohen J, McPherson R, Pennacchio LA. Ahituv N, et al. Am J Hum Genet. 2007 Apr;80(4):779-91. doi: 10.1086/513471. Epub 2007 Mar 5. Am J Hum Genet. 2007. PMID: 17357083 Free PMC article.
Massively parallel functional dissection of mammalian enhancers in vivo.
Patwardhan RP, Hiatt JB, Witten DM, Kim MJ, Smith RP, May D, Lee C, Andrie JM, Lee SI, Cooper GM, Ahituv N, Pennacchio LA, Shendure J. Patwardhan RP, et al. Among authors: ahituv n. Nat Biotechnol. 2012 Feb 26;30(3):265-70. doi: 10.1038/nbt.2136. Nat Biotechnol. 2012. PMID: 22371081 Free PMC article.
In vivo characterization of human APOA5 haplotypes.
Ahituv N, Akiyama J, Chapman-Helleboid A, Fruchart J, Pennacchio LA. Ahituv N, et al. Genomics. 2007 Dec;90(6):674-9. doi: 10.1016/j.ygeno.2007.08.003. Epub 2007 Oct 23. Genomics. 2007. PMID: 17936576 Free article.
A PYY Q62P variant linked to human obesity.
Ahituv N, Kavaslar N, Schackwitz W, Ustaszewska A, Collier JM, Hébert S, Doelle H, Dent R, Pennacchio LA, McPherson R. Ahituv N, et al. Hum Mol Genet. 2006 Feb 1;15(3):387-91. doi: 10.1093/hmg/ddi455. Epub 2005 Dec 20. Hum Mol Genet. 2006. PMID: 16368708
Identification and characterization of novel polymorphisms in the basal promoter of the human transporter, MATE1.
Ha Choi J, Wah Yee S, Kim MJ, Nguyen L, Ho Lee J, Kang JO, Hesselson S, Castro RA, Stryke D, Johns SJ, Kwok PY, Ferrin TE, Goo Lee M, Black BL, Ahituv N, Giacomini KM. Ha Choi J, et al. Among authors: ahituv n. Pharmacogenet Genomics. 2009 Oct;19(10):770-80. doi: 10.1097/FPC.0b013e328330eeca. Pharmacogenet Genomics. 2009. PMID: 19745787 Free PMC article.
162 results