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Page 1
Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature.
Cleaver R, Berg J, Craft E, Foster A, Gibbons RJ, Hobson E, Lachlan K, Naik S, Sampson JR, Sharif S, Smithson S; Deciphering Developmental Disorders Study; Parker MJ, Tatton-Brown K. Cleaver R, et al. Am J Med Genet A. 2019 Mar;179(3):344-349. doi: 10.1002/ajmg.a.61024. Epub 2019 Jan 13. Am J Med Genet A. 2019. PMID: 30637921 Review.
Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
Ragge N, Isidor B, Bitoun P, Odent S, Giurgea I, Cogné B, Deb W, Vincent M, Le Gall J, Morton J, Lim D; DDD Study; Le Meur G, Zazo Seco C, Zafeiropoulou D, Bax D, Zwijnenburg P, Arteche A, Swafiri ST, Cleaver R, McEntagart M, Kini U, Newman W, Ayuso C, Corton M, Herenger Y, Jeanne M, Calvas P, Chassaing N. Ragge N, et al. Among authors: cleaver r. Hum Genet. 2019 Sep;138(8-9):1051-1069. doi: 10.1007/s00439-018-1896-x. Epub 2018 Jul 4. Hum Genet. 2019. PMID: 29974297 Free article.
Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome.
Alharatani R, Ververi A, Beleza-Meireles A, Ji W, Mis E, Patterson QT, Griffin JN, Bhujel N, Chang CA, Dixit A, Konstantino M, Healy C, Hannan S, Neo N, Cash A, Li D, Bhoj E, Zackai EH, Cleaver R, Baralle D, McEntagart M, Newbury-Ecob R, Scott R, Hurst JA, Au PYB, Hosey MT, Khokha M, Marciano DK, Lakhani SA, Liu KJ. Alharatani R, et al. Among authors: cleaver r. Hum Mol Genet. 2020 Jul 21;29(11):1900-1921. doi: 10.1093/hmg/ddaa050. Hum Mol Genet. 2020. PMID: 32196547 Free PMC article.
Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals.
Forde C, Lim DHK, Alwan Y, Burghel G, Butland L, Cleaver R, Dixit A, Evans DG, Hanson H, Lalloo F, Oliveira P, Vialard L, Wallis Y, Maher ER, Woodward ER. Forde C, et al. Among authors: cleaver r. Eur Urol Oncol. 2020 Dec;3(6):764-772. doi: 10.1016/j.euo.2019.11.002. Epub 2019 Dec 9. Eur Urol Oncol. 2020. PMID: 31831373 Free article.
UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
Hanson H, Kulkarni A, Loong L, Kavanaugh G, Torr B, Allen S, Ahmed M, Antoniou AC, Cleaver R, Dabir T, Evans DG, Golightly E, Jewell R, Kohut K, Manchanda R, Murray A, Murray J, Ong KR, Rosenthal AN, Woodward ER, Eccles DM, Turnbull C, Tischkowitz M; Consensus meeting attendees; Lalloo F. Hanson H, et al. Among authors: cleaver r. J Med Genet. 2023 May;60(5):417-429. doi: 10.1136/jmg-2022-108898. Epub 2022 Nov 21. J Med Genet. 2023. PMID: 36411032 Free PMC article.