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Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism.
Hassan N, Gregson CL, Tang H, van der Kamp M, Leo P, McInerney-Leo AM, Zheng J, Brandi ML, Tang JCY, Fraser W, Stone MD, Grundberg E; Anglo-Australasian Genetics Consortium; Brown MA, Duncan EL, Tobias JH. Hassan N, et al. Among authors: grundberg e. J Bone Miner Res. 2023 May;38(5):678-691. doi: 10.1002/jbmr.4795. Epub 2023 Mar 13. J Bone Miner Res. 2023. PMID: 36824040 Free PMC article.
Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes.
Small KS, Hedman AK, Grundberg E, Nica AC, Thorleifsson G, Kong A, Thorsteindottir U, Shin SY, Richards HB; GIANT Consortium; MAGIC Investigators; DIAGRAM Consortium; Soranzo N, Ahmadi KR, Lindgren CM, Stefansson K, Dermitzakis ET, Deloukas P, Spector TD, McCarthy MI; MuTHER Consortium. Small KS, et al. Among authors: grundberg e. Nat Genet. 2011 Jun;43(6):561-4. doi: 10.1038/ng.833. Epub 2011 May 15. Nat Genet. 2011. PMID: 21572415 Free PMC article.
Enhanced resolution profiling in twins reveals differential methylation signatures of type 2 diabetes with links to its complications.
Christiansen C, Potier L, Martin TC, Villicaña S, Castillo-Fernandez JE, Mangino M, Menni C, Tsai PC, Campbell PJ, Mullin S, Ordoñana JR, Monteagudo O, Sachdev PS, Mather KA, Trollor JN, Pietilainen KH, Ollikainen M, Dalgård C, Kyvik K, Christensen K, van Dongen J, Willemsen G, Boomsma DI, Magnusson PKE, Pedersen NL, Wilson SG, Grundberg E, Spector TD, Bell JT. Christiansen C, et al. Among authors: grundberg e. EBioMedicine. 2024 Apr 3;103:105096. doi: 10.1016/j.ebiom.2024.105096. Online ahead of print. EBioMedicine. 2024. PMID: 38574408 Free PMC article.
Complex trait associations in rare diseases and impacts on Mendelian variant interpretation.
Smail C, Ge B, Keever-Keigher MR, Schwendinger-Schreck C, Cheung W, Johnston JJ, Barrett C; Genomic Answers for Kids Consortium; Feldman K, Cohen ASA, Farrow EG, Thiffault I, Grundberg E, Pastinen T. Smail C, et al. Among authors: grundberg e. medRxiv [Preprint]. 2024 Jan 11:2024.01.10.24301111. doi: 10.1101/2024.01.10.24301111. medRxiv. 2024. PMID: 38260377 Free PMC article. Preprint.
Extravillous trophoblast cell lineage development is associated with active remodeling of the chromatin landscape.
Varberg KM, Dominguez EM, Koseva B, Varberg JM, McNally RP, Moreno-Irusta A, Wesley ER, Iqbal K, Cheung WA, Schwendinger-Schreck C, Smail C, Okae H, Arima T, Lydic M, Holoch K, Marsh C, Soares MJ, Grundberg E. Varberg KM, et al. Among authors: grundberg e. Nat Commun. 2023 Aug 10;14(1):4826. doi: 10.1038/s41467-023-40424-5. Nat Commun. 2023. PMID: 37563143 Free PMC article.
125 results