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Variant Interpretation: Functional Assays to the Rescue.
Starita LM, Ahituv N, Dunham MJ, Kitzman JO, Roth FP, Seelig G, Shendure J, Fowler DM. Starita LM, et al. Among authors: ahituv n. Am J Hum Genet. 2017 Sep 7;101(3):315-325. doi: 10.1016/j.ajhg.2017.07.014. Am J Hum Genet. 2017. PMID: 28886340 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.
169 results