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Page 1
Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428.
Musolf AM, Justice CM, Erdogan-Yildirim Z, Goovaerts S, Cuellar A, Shaffer JR, Marazita ML, Claes P, Weinberg SM, Li J, Senders C, Zwienenberg M, Simeonov E, Kaneva R, Roscioli T, Di Pietro L, Barba M, Lattanzi W, Cunningham ML, Romitti PA, Boyadjiev SA. Musolf AM, et al. Among authors: boyadjiev sa. Sci Rep. 2024 Apr 12;14(1):8533. doi: 10.1038/s41598-024-58343-w. Sci Rep. 2024. PMID: 38609424 Free PMC article.
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. Among authors: boyadjiev sa. Nat Commun. 2023 Nov 16;14(1):7436. doi: 10.1038/s41467-023-43237-8. Nat Commun. 2023. PMID: 37973980 Free PMC article. Review.
Rare exonic CELSR3 variants identified in Bladder Exstrophy Epispadias Complex.
Jelin AC, Sopko N, Sobreira N, Boyadjiev SA, Wohler E, Morrill C, Witmer PD, Michaud J, Valle D, Gearhart J, Dicarlo H. Jelin AC, et al. Among authors: boyadjiev sa. Front Genet. 2024 Jun 5;15:1266210. doi: 10.3389/fgene.2024.1266210. eCollection 2024. Front Genet. 2024. PMID: 38903756 Free PMC article.
Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.
Nicoletti P, Zafer S, Matok L, Irron I, Patrick M, Haklai R, Evangelista JE, Marino GB, Ma'ayan A, Sewda A, Holmes G, Britton SR, Lee WJ, Wu M, Ru Y, Arnaud E, Botto L, Brody LC, Byren JC, Caggana M, Carmichael SL, Cilliers D, Conway K, Crawford K, Cuellar A, Di Rocco F, Engel M, Fearon J, Feldkamp ML, Finnell R, Fisher S, Freudlsperger C, Garcia-Fructuoso G, Hagge R, Heuzé Y, Harshbarger RJ, Hobbs C, Howley M, Jenkins MM, Johnson D, Justice CM, Kane A, Kay D, Gosain AK, Langlois P, Legal-Mallet L, Lin AE, Mills JL, Morton JEV, Noons P, Olshan A, Persing J, Phipps JM, Redett R, Reefhuis J, Rizk E, Samson TD, Shaw GM, Sicko R, Smith N, Staffenberg D, Stoler J, Sweeney E, Taub PJ, Timberlake AT, Topczewska J, Wall SA, Wilson AF, Wilson LC, Boyadjiev SA, Wilkie AOM, Richtsmeier JT, Jabs EW, Romitti PA, Karasik D, Birnbaum RY, Peter I. Nicoletti P, et al. Among authors: boyadjiev sa. Genet Med Open. 2024;2:101851. doi: 10.1016/j.gimo.2024.101851. Epub 2024 May 17. Genet Med Open. 2024. PMID: 39345948 Free PMC article.
The genetic overlap between osteoporosis and craniosynostosis.
Kague E, Medina-Gomez C, Boyadjiev SA, Rivadeneira F. Kague E, et al. Among authors: boyadjiev sa. 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.
Correction: 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. Among authors: boyadjiev sa. Genet Med. 2020 Sep;22(9):1567. doi: 10.1038/s41436-020-0886-2. Genet Med. 2020. PMID: 32636483 Free PMC article.
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. Among authors: boyadjiev sa. 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.
76 results