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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Pagnamenta AT, Camps C, Giacopuzzi E, Taylor JM, Hashim M, Calpena E, Kaisaki PJ, Hashimoto A, Yu J, Sanders E, Schwessinger R, Hughes JR, Lunter G, Dreau H, Ferla M, Lange L, Kesim Y, Ragoussis V, Vavoulis DV, Allroggen H, Ansorge O, Babbs C, Banka S, Baños-Piñero B, Beeson D, Ben-Ami T, Bennett DL, Bento C, Blair E, Brasch-Andersen C, Bull KR, Cario H, Cilliers D, Conti V, Davies EG, Dhalla F, Dacal BD, Dong Y, Dunford JE, Guerrini R, Harris AL, Hartley J, Hollander G, Javaid K, Kane M, Kelly D, Kelly D, Knight SJL, Kreins AY, Kvikstad EM, Langman CB, Lester T, Lines KE, Lord SR, Lu X, Mansour S, Manzur A, Maroofian R, Marsden B, Mason J, McGowan SJ, Mei D, Mlcochova H, Murakami Y, Németh AH, Okoli S, Ormondroyd E, Ousager LB, Palace J, Patel SY, Pentony MM, Pugh C, Rad A, Ramesh A, Riva SG, Roberts I, Roy N, Salminen O, Schilling KD, Scott C, Sen A, Smith C, Stevenson M, Thakker RV, Twigg SRF, Uhlig HH, van Wijk R, Vona B, Wall S, Wang J, Watkins H, Zak J, Schuh AH, Kini U, Wilkie AOM, Popitsch N, Taylor JC. Pagnamenta AT, et al. Among authors: thakker rv. Genome Med. 2023 Nov 9;15(1):94. doi: 10.1186/s13073-023-01240-0. Genome Med. 2023. PMID: 37946251 Free PMC article.
GNAQ/GNA11 Mosaicism Causes Aberrant Calcium Signaling Susceptible to Targeted Therapeutics.
Zecchin D, Knöpfel N, Gluck AK, Stevenson M, Sauvadet A, Polubothu S, Barberan-Martin S, Michailidis F, Bryant D, Inoue A, Lines KE, Hannan FM, Semple RK, Thakker RV, Kinsler VA. Zecchin D, et al. Among authors: thakker rv. J Invest Dermatol. 2024 Apr;144(4):811-819.e4. doi: 10.1016/j.jid.2023.08.028. Epub 2023 Oct 4. J Invest Dermatol. 2024. PMID: 37802293 Free PMC article.
GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification.
Knöpfel N, Zecchin D, Richardson H, Polubothu S, Barberan-Martin S, Cullup T, Gholam K, Heales S, Krywawych S, López-Balboa P, Muwanga-Nanyonjo N, Ogunbiyi O, Puvirajasinghe C, Solman L, Swarbrick K, Syed SB, Tahir Z, Tisdall MM, Allgrove J, Chesover AD, Aylett SE, Jacques TS, Hannan FM, Löbel U, Semple RK, Thakker RV, Kinsler VA. Knöpfel N, et al. Among authors: thakker rv. J Invest Dermatol. 2024 Apr;144(4):820-832.e9. doi: 10.1016/j.jid.2023.09.008. Epub 2023 Oct 4. J Invest Dermatol. 2024. PMID: 37802294 Free article.
Genetics of hereditary forms of primary hyperparathyroidism.
English KA, Lines KE, Thakker RV. English KA, et al. Among authors: thakker rv. Hormones (Athens). 2024 Mar;23(1):3-14. doi: 10.1007/s42000-023-00508-9. Epub 2023 Dec 1. Hormones (Athens). 2024. PMID: 38038882 Free PMC article. Review.
Central Adiposity Increases Risk of Kidney Stone Disease through Effects on Serum Calcium Concentrations.
Lovegrove CE, Bešević J, Wiberg A, Lacey B, Littlejohns TJ, Allen NE, Goldsworthy M, Kim J, Hannan FM, Curhan GC, Turney BW, McCarthy MI, Mahajan A, Thakker RV, Holmes MV, Furniss D, Howles SA. Lovegrove CE, et al. Among authors: thakker rv. J Am Soc Nephrol. 2023 Dec 1;34(12):1991-2011. doi: 10.1681/ASN.0000000000000238. Epub 2023 Oct 3. J Am Soc Nephrol. 2023. PMID: 37787550
Cinacalcet Reverses Short QT Interval in Familial Hypocalciuric Hypercalcemia Type 1.
Cuny T, Romanet P, Goldsworthy M, Guérin C, Wilkin M, Roche P, Sebag F, van Summeren LE, Stevenson M, Howles SA, Deharo JC, Thakker RV, Taïeb D. Cuny T, et al. Among authors: thakker rv. J Clin Endocrinol Metab. 2024 Jan 18;109(2):549-556. doi: 10.1210/clinem/dgad494. J Clin Endocrinol Metab. 2024. PMID: 37602721 Free PMC article.
362 results