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241 results

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Exome sequencing identifies variants in infants with sacral agenesis.
Pitsava G, Feldkamp ML, Pankratz N, Lane J, Kay DM, Conway KM, Hobbs C, Shaw GM, Reefhuis J, Jenkins MM, Almli LM, Moore C, Werler M, Browne ML, Cunniff C, Olshan AF, Pangilinan F, Brody LC, Sicko RJ, Finnell RH, Bamshad MJ, McGoldrick D, Nickerson DA, Mullikin JC, Romitti PA, Mills JL; UW Center for Mendelian Genomics, NISC Comparative Sequencing Program and the National Birth Defects Prevention Study. Pitsava G, et al. Among authors: romitti pa. Birth Defects Res. 2022 Apr;114(7):215-227. doi: 10.1002/bdr2.1987. Epub 2022 Mar 10. Birth Defects Res. 2022. PMID: 35274497 Free PMC article.
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: romitti pa. Sci Rep. 2024 Apr 12;14(1):8533. doi: 10.1038/s41598-024-58343-w. Sci Rep. 2024. PMID: 38609424 Free PMC article.
Shared genetic risk between major orofacial cleft phenotypes in an African population.
Alade A, Peter T, Busch T, Awotoye W, Anand D, Abimbola O, Aladenika E, Olujitan M, Rysavy O, Nguyen PF, Naicker T, Mossey PA, Gowans LJJ, Eshete MA, Adeyemo WL, Zeng E, Van Otterloo E, O'Rorke M, Adeyemo A, Murray JC, Lachke SA, Romitti PA, Butali A. Alade A, et al. Among authors: romitti pa. Genet Epidemiol. 2024 Apr 18. doi: 10.1002/gepi.22564. Online ahead of print. Genet Epidemiol. 2024. PMID: 38634654
Antifungal medication use during pregnancy and the risk of selected major birth defects in the National Birth Defects Prevention Study, 1997-2011.
Papadopoulos EA, Howley MM, Fisher SC, Van Zutphen AR, Werler MM, Romitti PA, Browne ML; National Birth Defects Prevention Study. Papadopoulos EA, et al. Among authors: romitti pa. Pharmacoepidemiol Drug Saf. 2024 Jan;33(1):e5741. doi: 10.1002/pds.5741. Epub 2023 Dec 19. Pharmacoepidemiol Drug Saf. 2024. PMID: 38112229
Bias analyses to investigate the impact of differential participation: Application to a birth defects case-control study.
Petersen JM, Kahrs JC, Adrien N, Wood ME, Olshan AF, Smith LH, Howley MM, Ailes EC, Romitti PA, Herring AH, Parker SE, Shaw GM, Politis MD; National Birth Defects Prevention Study. Petersen JM, et al. Among authors: romitti pa. Paediatr Perinat Epidemiol. 2023 Dec 15. doi: 10.1111/ppe.13026. Online ahead of print. Paediatr Perinat Epidemiol. 2023. PMID: 38102868
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: romitti pa. Nat Commun. 2023 Nov 16;14(1):7436. doi: 10.1038/s41467-023-43237-8. Nat Commun. 2023. PMID: 37973980 Free PMC article. Review.
241 results