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153 results

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PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Petit F, Longoni M, Wells J, Maser RS, Bogenschutz EL, Dysart MJ, Contreras HTM, Frénois F, Pober BR, Clark RD, Giampietro PF, Ropers HH, Hu H, Loscertales M, Wagner R, Ai X, Brand H, Jourdain AS, Delrue MA, Gilbert-Dussardier B, Devisme L, Keren B, McCulley DJ, Qiao L, Hernan R, Wynn J, Scott TM, Calame DG, Coban-Akdemir Z, Hernandez P, Hernandez-Garcia A, Yonath H, Lupski JR, Shen Y, Chung WK, Scott DA, Bult CJ, Donahoe PK, High FA. Petit F, et al. Among authors: bult cj. Am J Hum Genet. 2023 Oct 5;110(10):1787-1803. doi: 10.1016/j.ajhg.2023.09.002. Epub 2023 Sep 25. Am J Hum Genet. 2023. PMID: 37751738 Free PMC article.
Cancer-associated mesothelial cells are regulated by the anti-Müllerian hormone axis.
Chauvin M, Meinsohn MC, Dasari S, May P, Iyer S, Nguyen NMP, Oliva E, Lucchini Z, Nagykery N, Kashiwagi A, Mishra R, Maser R, Wells J, Bult CJ, Mitra AK, Donahoe PK, Pépin D. Chauvin M, et al. Among authors: bult cj. Cell Rep. 2023 Jul 25;42(7):112730. doi: 10.1016/j.celrep.2023.112730. Epub 2023 Jul 14. Cell Rep. 2023. PMID: 37453057 Free article.
Genomic Medicine Year in Review: 2022.
Manolio TA, Narula J, Bult CJ, Chisholm RL, Deverka PA, Ginsburg GS, Goldrich M, Green ED, Jarvik GP, Mensah GA, Ramos EM, Relling MV, Roden DM, Rowley R, Williams MS. Manolio TA, et al. Among authors: bult cj. Am J Hum Genet. 2022 Dec 1;109(12):2101-2104. doi: 10.1016/j.ajhg.2022.11.003. Am J Hum Genet. 2022. PMID: 36459977 Free PMC article. No abstract available.
Genomic medicine year in review: 2023.
Manolio TA, Narula J, Bult CJ, Chisholm RL, Deverka PA, Ginsburg GS, Green ED, Hooker G, Jarvik GP, Mensah GA, Ramos EM, Roden DM, Rowley R, Williams MS. Manolio TA, et al. Among authors: bult cj. Am J Hum Genet. 2023 Dec 7;110(12):1992-1995. doi: 10.1016/j.ajhg.2023.11.001. Am J Hum Genet. 2023. PMID: 38065071 No abstract available.
MVAR: A Mouse Variation Registry.
El Kassaby B, Castellanos F, Gerring M, Kunde-Ramamoorthy G, Bult CJ. El Kassaby B, et al. Among authors: bult cj. J Mol Biol. 2024 Mar 6:168518. doi: 10.1016/j.jmb.2024.168518. Online ahead of print. J Mol Biol. 2024. PMID: 38458603 Free article.
The Mouse Models of Human Cancer database (MMHCdb).
Begley DA, Krupke DM, Sundberg JP, Jocoy EL, Richardson JE, Neuhauser SB, Bult CJ. Begley DA, et al. Among authors: bult cj. Dis Model Mech. 2023 Apr 1;16(4):dmm050001. doi: 10.1242/dmm.050001. Epub 2023 Apr 14. Dis Model Mech. 2023. PMID: 36967676 Free PMC article.
Minimum information and guidelines for reporting a Multiplexed Assay of Variant Effect.
Claussnitzer M, Parikh VN, Wagner AH, Arbesfeld JA, Bult CJ, Firth HV, Muffley LA, Nguyen Ba AN, Riehle K, Roth FP, Tabet D, Bolognesi B, Glazer AM, Rubin AF. Claussnitzer M, et al. Among authors: bult cj. ArXiv [Preprint]. 2023 Jun 26:arXiv:2306.15113v1. ArXiv. 2023. PMID: 37426450 Free PMC article. Updated. Preprint.
Minimum information and guidelines for reporting a multiplexed assay of variant effect.
Claussnitzer M, Parikh VN, Wagner AH, Arbesfeld JA, Bult CJ, Firth HV, Muffley LA, Nguyen Ba AN, Riehle K, Roth FP, Tabet D, Bolognesi B, Glazer AM, Rubin AF. Claussnitzer M, et al. Among authors: bult cj. Genome Biol. 2024 Apr 19;25(1):100. doi: 10.1186/s13059-024-03223-9. Genome Biol. 2024. PMID: 38641812 Free PMC article.
153 results