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Massively parallel characterization of psychiatric disorder-associated and cell-type-specific regulatory elements in the developing human cortex.
Deng C, Whalen S, Steyert M, Ziffra R, Przytycki PF, Inoue F, Pereira DA, Capauto D, Norton S, Vaccarino FM, Pollen A, Nowakowski TJ, Ahituv N, Pollard KS. Deng C, et al. Among authors: ahituv n. bioRxiv [Preprint]. 2023 Feb 16:2023.02.15.528663. doi: 10.1101/2023.02.15.528663. bioRxiv. 2023. Update in: Science. 2024 May 24;384(6698):eadh0559. doi: 10.1126/science.adh0559. PMID: 36824845 Free PMC article. Updated. Preprint.
A new mouse mutant for the LDL receptor identified using ENU mutagenesis.
Svenson KL, Ahituv N, Durgin RS, Savage H, Magnani PA, Foreman O, Paigen B, Peters LL. Svenson KL, et al. Among authors: ahituv n. J Lipid Res. 2008 Nov;49(11):2452-62. doi: 10.1194/jlr.M800303-JLR200. Epub 2008 Jul 15. J Lipid Res. 2008. PMID: 18632552 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.
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.
A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups.
Londono D, Kou I, Johnson TA, Sharma S, Ogura Y, Tsunoda T, Takahashi A, Matsumoto M, Herring JA, Lam TP, Wang X, Tam EM, Song YQ, Fan YH, Chan D, Cheah KS, Qiu X, Jiang H, Huang D; Japanese Scoliosis Clinical Research Group; TSRHC IS Clinical Group, International Consortium for Scoliosis Genetics, Su P, Sham P, Cheung KM, Luk KD, Gordon D, Qiu Y, Cheng J, Tang N, Ikegawa S, Wise CA. Londono D, et al. J Med Genet. 2014 Jun;51(6):401-6. doi: 10.1136/jmedgenet-2013-102067. Epub 2014 Apr 10. J Med Genet. 2014. PMID: 24721834
174 results