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HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss.
Brown KK, Viana LM, Helwig CC, Artunduaga MA, Quintanilla-Dieck L, Jarrin P, Osorno G, McDonough B, DePalma SR, Eavey RD, Seidman JG, Seidman CE. Brown KK, et al. Among authors: eavey rd. Hum Mutat. 2013 Oct;34(10):1347-51. doi: 10.1002/humu.22367. Epub 2013 Jul 11. Hum Mutat. 2013. PMID: 23775976 Free PMC article.
An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations.
Quiat D, Kim SW, Zhang Q, Morton SU, Pereira AC, DePalma SR, Willcox JAL, McDonough B, DeLaughter DM, Gorham JM, Curran JJ, Tumblin M, Nicolau Y, Artunduaga MA, Quintanilla-Dieck L, Osorno G, Serrano L, Hamdan U, Eavey RD, Seidman CE, Seidman JG. Quiat D, et al. Among authors: eavey rd. Proc Natl Acad Sci U S A. 2022 May 24;119(21):e2203928119. doi: 10.1073/pnas.2203928119. Epub 2022 May 18. Proc Natl Acad Sci U S A. 2022. PMID: 35584116 Free PMC article.
Damaging variants in FOXI3 cause microtia and craniofacial microsomia.
Quiat D, Timberlake AT, Curran JJ, Cunningham ML, McDonough B, Artunduaga MA, DePalma SR, Duenas-Roque MM, Gorham JM, Gustafson JA, Hamdan U, Hing AV, Hurtado-Villa P, Nicolau Y, Osorno G, Pachajoa H, Porras-Hurtado GL, Quintanilla-Dieck L, Serrano L, Tumblin M, Zarante I, Luquetti DV, Eavey RD, Heike CL, Seidman JG, Seidman CE. Quiat D, et al. Among authors: eavey rd. Genet Med. 2023 Jan;25(1):143-150. doi: 10.1016/j.gim.2022.09.005. Epub 2022 Oct 19. Genet Med. 2023. PMID: 36260083 Free PMC article.
Eya4-deficient mice are a model for heritable otitis media.
Depreux FF, Darrow K, Conner DA, Eavey RD, Liberman MC, Seidman CE, Seidman JG. Depreux FF, et al. Among authors: eavey rd. J Clin Invest. 2008 Feb;118(2):651-8. doi: 10.1172/JCI32899. J Clin Invest. 2008. PMID: 18219393 Free PMC article.
A classic twin study of external ear malformations, including microtia.
Artunduaga MA, Quintanilla-Dieck Mde L, Greenway S, Betensky R, Nicolau Y, Hamdan U, Jarrin P, Osorno G, Brent B, Eavey R, Seidman C, Seidman JG. Artunduaga MA, et al. N Engl J Med. 2009 Sep 17;361(12):1216-8. doi: 10.1056/NEJMc0902556. N Engl J Med. 2009. PMID: 19759387 Free PMC article. No abstract available.
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.
Greenway SC, Pereira AC, Lin JC, DePalma SR, Israel SJ, Mesquita SM, Ergul E, Conta JH, Korn JM, McCarroll SA, Gorham JM, Gabriel S, Altshuler DM, Quintanilla-Dieck Mde L, Artunduaga MA, Eavey RD, Plenge RM, Shadick NA, Weinblatt ME, De Jager PL, Hafler DA, Breitbart RE, Seidman JG, Seidman CE. Greenway SC, et al. Among authors: eavey rd. Nat Genet. 2009 Aug;41(8):931-5. doi: 10.1038/ng.415. Epub 2009 Jul 13. Nat Genet. 2009. PMID: 19597493 Free PMC article.
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.
Hinson JT, Fantin VR, Schönberger J, Breivik N, Siem G, McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE. Hinson JT, et al. Among authors: eavey rd. N Engl J Med. 2007 Feb 22;356(8):809-19. doi: 10.1056/NEJMoa055262. N Engl J Med. 2007. PMID: 17314340 Free article.
160 results