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Page 1
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 May;103:105096. doi: 10.1016/j.ebiom.2024.105096. Epub 2024 Apr 4. 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 WA, 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. Nat Commun. 2024 Sep 18;15(1):8196. doi: 10.1038/s41467-024-52407-1. Nat Commun. 2024. PMID: 39294130 Free PMC article.
Genomic insights into pediatric intestinal inflammatory and eosinophilic disorders using single-cell RNA-sequencing.
Keever-Keigher MR, Harvey L, Williams V, Vyhlidal CA, Ahmed AA, Johnston JJ, Louiselle DA, Grundberg E, Pastinen T, Friesen CA, Chevalier R, Smail C, Shakhnovich V. Keever-Keigher MR, et al. Among authors: grundberg e. Front Immunol. 2024 Aug 13;15:1420208. doi: 10.3389/fimmu.2024.1420208. eCollection 2024. Front Immunol. 2024. PMID: 39192974 Free PMC article.
129 results