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Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Cipriani V, Vestito L, Magavern EF, Jacobsen JO, Arno G, Behr ER, Benson KA, Bertoli M, Bockenhauer D, Bowl MR, Burley K, Chan LF, Chinnery P, Conlon P, Costa M, Davidson AE, Dawson SJ, Elhassan E, Flanagan SE, Futema M, Gale DP, García-Ruiz S, Corcia CG, Griffin HR, Hambleton S, Hicks AR, Houlden H, Houlston RS, Howles SA, Kleta R, Lekkerkerker I, Lin S, Liskova P, Mitchison H, Morsy H, Mumford AD, Newman WG, Neatu R, O'Toole EA, Ong AC, Pagnamenta AT, Rahman S, Rajan N, Robinson PN, Ryten M, Sadeghi-Alavijeh O, Sayer JA, Shovlin CL, Taylor JC, Teltsh O, Tomlinson I, Tucci A, Turnbull C, van Eerde AM, Ware JS, Watts LM, Webster AR, Westbury SK, Zheng SL, Caulfield M, Smedley D. Cipriani V, et al. Among authors: howles sa. medRxiv [Preprint]. 2023 Dec 21:2023.12.20.23300294. doi: 10.1101/2023.12.20.23300294. medRxiv. 2023. PMID: 38196618 Free PMC article. Preprint.
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: howles sa. 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: howles sa. 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.
GNA11 Variants Identified in Patients with Hypercalcemia or Hypocalcemia.
Howles SA, Gorvin CM, Cranston T, Rogers A, Gluck AK, Boon H, Gibson K, Rahman M, Root A, Nesbit MA, Hannan FM, Thakker RV. Howles SA, et al. J Bone Miner Res. 2023 Jun;38(6):907-917. doi: 10.1002/jbmr.4803. Epub 2023 Apr 18. J Bone Miner Res. 2023. PMID: 36970776 Free PMC article.
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