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Page 1
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
Stegmann JD, Kalanithy JC, Dworschak GC, Ishorst N, Mingardo E, Lopes FM, Ho YM, Grote P, Lindenberg TT, Yilmaz Ö, Channab K, Seltzsam S, Shril S, Hildebrandt F, Boschann F, Heinen A, Jolly A, Myers K, McBride K, Bekheirnia MR, Bekheirnia N, Scala M, Morleo M, Nigro V, Torella A; TUDP consortium; Pinelli M, Capra V, Accogli A, Maitz S, Spano A, Olson RJ, Klee EW, Lanpher BC, Jang SS, Chae JH, Steinbauer P, Rieder D, Janecke AR, Vodopiutz J, Vogel I, Blechingberg J, Cohen JL, Riley K, Klee V, Walsh LE, Begemann M, Elbracht M, Eggermann T, Stoppe A, Stuurman K, van Slegtenhorst M, Barakat TS, Mulhern MS, Sands TT, Cytrynbaum C, Weksberg R, Isidori F, Pippucci T, Severi G, Montanari F, Kruer MC, Bakhtiari S, Darvish H, Reutter H, Hagelueken G, Geyer M, Woolf AS, Posey JE, Lupski JR, Odermatt B, Hilger AC. Stegmann JD, et al. Among authors: blechingberg j. NPJ Genom Med. 2024 Mar 1;9(1):18. doi: 10.1038/s41525-024-00398-9. NPJ Genom Med. 2024. PMID: 38429302 Free PMC article.
Evidence implicating BRD1 with brain development and susceptibility to both schizophrenia and bipolar affective disorder.
Severinsen JE, Bjarkam CR, Kiaer-Larsen S, Olsen IM, Nielsen MM, Blechingberg J, Nielsen AL, Holm IE, Foldager L, Young BD, Muir WJ, Blackwood DH, Corydon TJ, Mors O, Børglum AD. Severinsen JE, et al. Among authors: blechingberg j. Mol Psychiatry. 2006 Dec;11(12):1126-38. doi: 10.1038/sj.mp.4001885. Epub 2006 Aug 22. Mol Psychiatry. 2006. PMID: 16924267 Clinical Trial.
Analysis of HP1α regulation in human breast cancer cells.
Thomsen R, Christensen DB, Rosborg S, Linnet TE, Blechingberg J, Nielsen AL. Thomsen R, et al. Among authors: blechingberg j. Mol Carcinog. 2011 Aug;50(8):601-13. doi: 10.1002/mc.20755. Epub 2011 Mar 3. Mol Carcinog. 2011. PMID: 21374739
CRISPR activation to characterize splice-altering variants in easily accessible cells.
Terkelsen T, Mikkelsen NS, Bak EN, Vad-Nielsen J, Blechingberg J, Weiss S, Drue SO, Andersen H, Andresen BS, Bak RO, Jensen UB. Terkelsen T, et al. Among authors: blechingberg j. Am J Hum Genet. 2024 Feb 1;111(2):309-322. doi: 10.1016/j.ajhg.2023.12.024. Epub 2024 Jan 24. Am J Hum Genet. 2024. PMID: 38272032 Free PMC article.
19 results