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Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome.
Jolly A, Du H, Borel C, Chen N, Zhao S, Grochowski CM, Duan R, Fatih JM, Dawood M, Salvi S, Jhangiani SN, Muzny DM, Koch A, Rouskas K, Glentis S, Deligeoroglou E, Bacopoulou F, Wise CA, Dietrich JE, Van den Veyver IB, Dimas AS, Brucker S, Sutton VR, Gibbs RA, Antonarakis SE, Wu N, Coban-Akdemir ZH, Zhu L, Posey JE, Lupski JR. Jolly A, et al. Among authors: glentis s. HGG Adv. 2023 Mar 29;4(3):100188. doi: 10.1016/j.xhgg.2023.100188. eCollection 2023 Jul 13. HGG Adv. 2023. PMID: 37124138 Free PMC article.
Identifying novel regulatory effects for clinically relevant genes through the study of the Greek population.
Rouskas K, Katsareli EA, Amerikanou C, Dimopoulos AC, Glentis S, Kalantzi A, Skoulakis A, Panousis N, Ongen H, Bielser D, Planchon A, Romano L, Harokopos V, Reczko M, Moulos P, Griniatsos I, Diamantis T, Dermitzakis ET, Ragoussis J, Dedoussis G, Dimas AS. Rouskas K, et al. Among authors: glentis s. BMC Genomics. 2023 Aug 5;24(1):442. doi: 10.1186/s12864-023-09532-w. BMC Genomics. 2023. PMID: 37543566 Free PMC article.
A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.
Bianchi A, Zelli V, D'Angelo A, Di Matteo A, Scoccia G, Cannita K, Dimas AS, Glentis S, Zazzeroni F, Alesse E, Di Marco A, Tessitore A. Bianchi A, et al. Among authors: glentis s. NAR Genom Bioinform. 2024 Apr 17;6(2):lqae033. doi: 10.1093/nargab/lqae033. eCollection 2024 Jun. NAR Genom Bioinform. 2024. PMID: 38633426 Free PMC article.
A Novel Variant in the TP53 Gene Causing Li-Fraumeni Syndrome.
Papadimitriou DT, Stratakis CA, Kattamis A, Glentis S, Dimitrakakis C, Spyridis GP, Christopoulos P, Mastorakos G, Vlahos NF, Iacovidou N. Papadimitriou DT, et al. Among authors: glentis s. Children (Basel). 2023 Jun 30;10(7):1150. doi: 10.3390/children10071150. Children (Basel). 2023. PMID: 37508646 Free PMC article.
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group.
Bakhuizen JJ, Hanson H, van der Tuin K, Lalloo F, Tischkowitz M, Wadt K, Jongmans MCJ; SIOPE Host Genome Working Group; CanGene-CanVar Clinical Guideline Working Group; Expert Network Members. Bakhuizen JJ, et al. Fam Cancer. 2021 Oct;20(4):337-348. doi: 10.1007/s10689-021-00264-y. Epub 2021 Jun 25. Fam Cancer. 2021. PMID: 34170462 Free PMC article.
Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group.
Frühwald MC, Nemes K, Boztug H, Cornips MCA, Evans DG, Farah R, Glentis S, Jorgensen M, Katsibardi K, Hirsch S, Jahnukainen K, Kventsel I, Kerl K, Kratz CP, Pajtler KW, Kordes U, Ridola V, Stutz E, Bourdeaut F. Frühwald MC, et al. Among authors: glentis s. Fam Cancer. 2021 Oct;20(4):305-316. doi: 10.1007/s10689-021-00229-1. Epub 2021 Feb 3. Fam Cancer. 2021. PMID: 33532948 Free PMC article.
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
Chen N, Zhao S, Jolly A, Wang L, Pan H, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, Rall K, Coban-Akdemir Z, Chen Z, Jhangiani S, Liang Z, Niu Y, Li X, Yan Z, Wu Y, Dong S, Song C, Qiu G, Zhang S, Liu P, Posey JE, Zhang F, Luo G, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group; Su J, Zhang J, Chen EY, Rouskas K, Glentis S, Bacopoulou F, Deligeoroglou E, Chrousos G, Lyonnet S, Polak M, Rosenberg C, Dingeldein I, Bonilla X, Borel C, Gibbs RA, Dietrich JE, Dimas AS, Antonarakis SE, Brucker SY, Lupski JR, Wu N, Zhu L. Chen N, et al. Among authors: glentis s. Am J Hum Genet. 2021 Feb 4;108(2):337-345. doi: 10.1016/j.ajhg.2020.12.014. Am J Hum Genet. 2021. PMID: 33434492 Free PMC article.
13 results