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Early Experiences of Parents of Children With Craniofacial Microsomia.
Johns AL, McWilliams D, Costa B, Heike CL, Feragen KB, Hotton M, Crerand CE, Drake AF, Schefer A, Tumblin M, Stock NM. Johns AL, et al. Among authors: tumblin m. J Obstet Gynecol Neonatal Nurs. 2024 May;53(3):296-307. doi: 10.1016/j.jogn.2024.01.001. Epub 2024 Feb 3. J Obstet Gynecol Neonatal Nurs. 2024. PMID: 38320743
A Conceptual Thematic Framework of Psychological Adjustment in Caregivers of Children with Craniofacial Microsomia.
Stock NM, Costa B, Parnell J, Johns AL, Crerand CE, Billaud Feragen K, Stueckle LP, Mills A, Magee L, Hotton M, Tumblin M, Schefer A, Drake AF, Heike CL. Stock NM, et al. Among authors: tumblin m. Cleft Palate Craniofac J. 2024 Apr 8:10556656241245284. doi: 10.1177/10556656241245284. Online ahead of print. Cleft Palate Craniofac J. 2024. PMID: 38584503
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: tumblin m. 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.
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: tumblin m. 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.