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Page 1
Genetics of craniosynostosis.
Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Kimonis V, et al. Semin Pediatr Neurol. 2007 Sep;14(3):150-61. doi: 10.1016/j.spen.2007.08.008. Semin Pediatr Neurol. 2007. PMID: 17980312 Review.
Genetic advances in craniosynostosis.
Lattanzi W, Barba M, Di Pietro L, Boyadjiev SA. Lattanzi W, et al. Am J Med Genet A. 2017 May;173(5):1406-1429. doi: 10.1002/ajmg.a.38159. Epub 2017 Feb 4. Am J Med Genet A. 2017. PMID: 28160402 Free PMC article. Review.
Clinical genetics of craniosynostosis.
Wilkie AOM, Johnson D, Wall SA. Wilkie AOM, et al. Curr Opin Pediatr. 2017 Dec;29(6):622-628. doi: 10.1097/MOP.0000000000000542. Curr Opin Pediatr. 2017. PMID: 28914635 Free PMC article. Review.
Genetic analysis of non-syndromic craniosynostosis.
Boyadjiev SA; International Craniosynostosis Consortium. Boyadjiev SA, et al. Orthod Craniofac Res. 2007 Aug;10(3):129-37. doi: 10.1111/j.1601-6343.2007.00393.x. Orthod Craniofac Res. 2007. PMID: 17651129 Review.
The genetic overlap between osteoporosis and craniosynostosis.
Kague E, Medina-Gomez C, Boyadjiev SA, Rivadeneira F. Kague E, et al. Front Endocrinol (Lausanne). 2022 Sep 26;13:1020821. doi: 10.3389/fendo.2022.1020821. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36225206 Free PMC article. Review.
Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape.
Goovaerts S, Hoskens H, Eller RJ, Herrick N, Musolf AM, Justice CM, Yuan M, Naqvi S, Lee MK, Vandermeulen D, Szabo-Rogers HL, Romitti PA, Boyadjiev SA, Marazita ML, Shaffer JR, Shriver MD, Wysocka J, Walsh S, Weinberg SM, Claes P. Goovaerts S, et al. Nat Commun. 2023 Nov 16;14(1):7436. doi: 10.1038/s41467-023-43237-8. Nat Commun. 2023. PMID: 37973980 Free PMC article. Review.
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Phipps JM, Balasubramanian M, Cunningham ML, Douzgou S, Lattanzi W, Morton JEV, Shears D, Weber A, Wilson LC, Lord H, Lester T, Johnson D, Wall SA, Twigg SRF, Mathijssen IMJ, Boardman-Pretty F; Genomics England Research Consortium; Boyadjiev SA, Wilkie AOM. Calpena E, et al. Genet Med. 2020 Sep;22(9):1498-1506. doi: 10.1038/s41436-020-0817-2. Epub 2020 Jun 5. Genet Med. 2020. PMID: 32499606 Free PMC article.
43 results