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Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects.
Ayers KL, Eggers S, Rollo BN, Smith KR, Davidson NM, Siddall NA, Zhao L, Bowles J, Weiss K, Zanni G, Burglen L, Ben-Shachar S, Rosensaft J, Raas-Rothschild A, Jørgensen A, Schittenhelm RB, Huang C, Robevska G, van den Bergen J, Casagranda F, Cyza J, Pachernegg S, Wright DK, Bahlo M, Oshlack A, O'Brien TJ, Kwan P, Koopman P, Hime GR, Girard N, Hoffmann C, Shilon Y, Zung A, Bertini E, Milh M, Ben Rhouma B, Belguith N, Bashamboo A, McElreavey K, Banne E, Weintrob N, BenZeev B, Sinclair AH. Ayers KL, et al. Among authors: bashamboo a. Nat Commun. 2023 Jun 9;14(1):3403. doi: 10.1038/s41467-023-39040-0. Nat Commun. 2023. PMID: 37296101 Free PMC article.
Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.
Steel D, Salpietro V, Phadke R, Pitt M, Gentile G, Massoud A, Batten L, Bashamboo A, Mcelreavey K, Saggar A, Kinali M. Steel D, et al. Among authors: bashamboo a. J Genet. 2015 Dec;94(4):755-8. doi: 10.1007/s12041-015-0578-x. J Genet. 2015. PMID: 26690532 Free article. No abstract available.
A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development.
Bashamboo A, Donohoue PA, Vilain E, Rojo S, Calvel P, Seneviratne SN, Buonocore F, Barseghyan H, Bingham N, Rosenfeld JA, Mulukutla SN, Jain M, Burrage L, Dhar S, Balasubramanyam A, Lee B; Members of UDN; Dumargne MC, Eozenou C, Suntharalingham JP, de Silva K, Lin L, Bignon-Topalovic J, Poulat F, Lagos CF, McElreavey K, Achermann JC. Bashamboo A, et al. Hum Mol Genet. 2016 Dec 1;25(23):5286. doi: 10.1093/hmg/ddw390. Hum Mol Genet. 2016. PMID: 28031288 Free PMC article. No abstract available.
Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea.
Ben Hadj Hmida I, Mougou-Zerelli S, Hadded A, Dimassi S, Kammoun M, Bignon-Topalovic J, Bibi M, Saad A, Bashamboo A, McElreavey K. Ben Hadj Hmida I, et al. Among authors: bashamboo a. Fertil Steril. 2016 Jul;106(1):225-229.e11. doi: 10.1016/j.fertnstert.2016.03.008. Epub 2016 Mar 22. Fertil Steril. 2016. PMID: 27016457 Free article.
99 results