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Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?
Perez KKD, Chung S, Head ST, Epstein MP, Hecht JT, Wehby GL, Weinberg SM, Murray JC, Marazita ML, Leslie EJ. Perez KKD, et al. Among authors: marazita ml. medRxiv [Preprint]. 2023 Feb 7:2023.02.01.23285340. doi: 10.1101/2023.02.01.23285340. medRxiv. 2023. Update in: Am J Med Genet A. 2023 Oct;191(10):2558-2570. doi: 10.1002/ajmg.a.63336 PMID: 36798250 Free PMC article. Updated. Preprint.
Rare genetic variants in SEC24D modify orofacial cleft phenotypes.
Curtis SW, Carlson JC, Beaty TH, Murray JC, Weinberg SM, Marazita ML, Cotney JL, Cutler DJ, Epstein MP, Leslie EJ. Curtis SW, et al. Among authors: marazita ml. medRxiv [Preprint]. 2023 Mar 27:2023.03.24.23287714. doi: 10.1101/2023.03.24.23287714. medRxiv. 2023. PMID: 37034635 Free PMC article. Preprint.
Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate.
Robinson K, Mosley TJ, Rivera-González KS, Jabbarpour CR, Curtis SW, Adeyemo WL, Beaty TH, Butali A, Buxó CJ, Cutler DJ, Epstein MP, Gowans LJ, Hecht JT, Murray JC, Shaw GM, Uribe LM, Weinberg SM, Brand H, Marazita ML, Lipinski RJ, Leslie EJ. Robinson K, et al. Among authors: marazita ml. medRxiv [Preprint]. 2023 Apr 6:2023.03.01.23286642. doi: 10.1101/2023.03.01.23286642. medRxiv. 2023. Update in: HGG Adv. 2023 Aug 25;4(4):100234. doi: 10.1016/j.xhgg.2023.100234 PMID: 37066311 Free PMC article. Updated. Preprint.
netMUG: a novel network-guided multi-view clustering workflow for dissecting genetic and facial heterogeneity.
Li Z, Melograna F, Hoskens H, Duroux D, Marazita ML, Walsh S, Weinberg SM, Shriver MD, Müller-Myhsok B, Claes P, Van Steen K. Li Z, et al. Among authors: marazita ml. bioRxiv [Preprint]. 2023 May 5:2023.05.04.539350. doi: 10.1101/2023.05.04.539350. bioRxiv. 2023. Update in: Front Genet. 2023 Dec 06;14:1286800. doi: 10.3389/fgene.2023.1286800 PMID: 37205363 Free PMC article. Updated. Preprint.
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: marazita ml. Sci Rep. 2024 Apr 12;14(1):8533. doi: 10.1038/s41598-024-58343-w. Sci Rep. 2024. PMID: 38609424 Free PMC article.
Genome-wide study of gene-by-sex interactions identifies risks for cleft palate.
Robinson K, Parrish R, Adeyemo WL, Beaty TH, Butali A, Buxó CJ, Gowans LJ, Hecht JT, Moreno L, Murray JC, Shaw GM, Weinberg SM, Brand H, Marazita ML, Cutler DJ, Epstein MP, Yang J, Leslie EJ. Robinson K, et al. Among authors: marazita ml. medRxiv [Preprint]. 2024 May 3:2024.05.01.24306701. doi: 10.1101/2024.05.01.24306701. medRxiv. 2024. Update in: Hum Genet. 2024 Nov;143(11):1341-1352. doi: 10.1007/s00439-024-02704-y PMID: 38746184 Free PMC article. Updated. Preprint.
462 results