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Haploinsufficiency of SF3B2 causes craniofacial microsomia.
Timberlake AT, Griffin C, Heike CL, Hing AV, Cunningham ML, Chitayat D, Davis MR, Doust SJ, Drake AF, Duenas-Roque MM, Goldblatt J, Gustafson JA, Hurtado-Villa P, Johns A, Karp N, Laing NG, Magee L; University of Washington Center for Mendelian Genomics; Mullegama SV, Pachajoa H, Porras-Hurtado GL, Schnur RE, Slee J, Singer SL, Staffenberg DA, Timms AE, Wise CA, Zarante I, Saint-Jeannet JP, Luquetti DV. Timberlake AT, et al. Among authors: johns a. Nat Commun. 2021 Aug 3;12(1):4680. doi: 10.1038/s41467-021-24852-9. Nat Commun. 2021. PMID: 34344887 Free PMC article.
Neurodevelopment of Infants with and without Craniofacial Microsomia.
Speltz ML, Kapp-Simon KA, Johns AL, Wallace ER, Collett BR, Magee L, Leroux BG, Luquetti DV, Heike CL. Speltz ML, et al. Among authors: johns al. J Pediatr. 2018 Jul;198:226-233.e3. doi: 10.1016/j.jpeds.2018.02.076. Epub 2018 Apr 22. J Pediatr. 2018. PMID: 29685618 Free PMC article.
Methods and Challenges in a Cohort Study of Infants and Toddlers With Craniofacial Microsomia: The Clock Study.
Luquetti DV, Speltz ML, Wallace ER, Siebold B, Collett BR, Drake AF, Johns AL, Kapp-Simon KA, Kinter SL, Leroux BG, Magee L, Norton S, Sie K, Heike CL. Luquetti DV, et al. Among authors: johns al. Cleft Palate Craniofac J. 2019 Aug;56(7):877-889. doi: 10.1177/1055665618821014. Epub 2019 Jan 8. Cleft Palate Craniofac J. 2019. PMID: 30621445 Free PMC article.
Behavioral Adjustment of Preschool Children With and Without Craniofacial Microsomia.
Johns AL, Wallace ER, Collett BR, Kapp-Simon KA, Drake AF, Heike CL, Kinter SL, Luquetti DV, Magee L, Norton S, Sie K, Speltz ML. Johns AL, et al. Cleft Palate Craniofac J. 2021 Jan;58(1):42-53. doi: 10.1177/1055665620947987. Epub 2020 Aug 12. Cleft Palate Craniofac J. 2021. PMID: 32783465 Free PMC article.
Microtia and craniofacial microsomia: Content analysis of facebook groups.
Umbaugh HM, Crerand CE, Stock NM, Luquetti DV, Heike CL, Drake AF, Billaud Feragen KJ, Johns AL. Umbaugh HM, et al. Int J Pediatr Otorhinolaryngol. 2020 Nov;138:110301. doi: 10.1016/j.ijporl.2020.110301. Epub 2020 Aug 9. Int J Pediatr Otorhinolaryngol. 2020. PMID: 32838996
467 results