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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: quintanilla dieck l. 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.
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. 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.
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: quintanilla dieck l. 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.
The management of pediatric Graves' disease.
Quintanilla-Dieck L. Quintanilla-Dieck L. Curr Opin Otolaryngol Head Neck Surg. 2023 Dec 1;31(6):419-423. doi: 10.1097/MOO.0000000000000933. Epub 2023 Oct 9. Curr Opin Otolaryngol Head Neck Surg. 2023. PMID: 37820281 Review.
Pediatric intraoperative nerve monitoring during thyroid surgery: A review from the American Head and Neck Society Endocrine Surgery Section and the International Neural Monitoring Study Group.
Diercks GR, Rastatter JC, Kazahaya K, Kamani D, Quintanilla-Dieck L, Shindo ML, Hartnick C, Shin JJ, Singer MC, Stack BC Jr, Chen AY, St John MA, Scharpf J, Agrawal N, Jayawardena ADL, Iwata AJ, Okose O, Wang B, McIlroy D, Cheung A, Wu CW, Chiang FY, Dionigi G, Barczynski M, Brauckhoff K, Lorenz K, Hartl D, Tolley N, Brooks JA, Schneider R, Dralle H, Abdelhamid Ahmed AH, Randolph GW. Diercks GR, et al. Among authors: quintanilla dieck l. Head Neck. 2022 Jun;44(6):1468-1480. doi: 10.1002/hed.27010. Epub 2022 Mar 8. Head Neck. 2022. PMID: 35261110 Free article. Review.
Congenital Neck Masses.
Quintanilla-Dieck L, Penn EB Jr. Quintanilla-Dieck L, et al. Clin Perinatol. 2018 Dec;45(4):769-785. doi: 10.1016/j.clp.2018.07.012. Epub 2018 Sep 18. Clin Perinatol. 2018. PMID: 30396417 Review.
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