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Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.
Rojas RA, Kutateladze AA, Plummer L, Stamou M, Keefe DL Jr, Salnikov KB, Delaney A, Hall JE, Sadreyev R, Ji F, Fliers E, Gambosova K, Quinton R, Merino PM, Mericq V, Seminara SB, Crowley WF Jr, Balasubramanian R. Rojas RA, et al. Among authors: sadreyev r. Genet Med. 2021 Apr;23(4):629-636. doi: 10.1038/s41436-020-01051-3. Epub 2021 Jan 13. Genet Med. 2021. PMID: 33442024 Free PMC article.
PAR-TERRA directs homologous sex chromosome pairing.
Chu HP, Froberg JE, Kesner B, Oh HJ, Ji F, Sadreyev R, Pinter SF, Lee JT. Chu HP, et al. Among authors: sadreyev r. Nat Struct Mol Biol. 2017 Aug;24(8):620-631. doi: 10.1038/nsmb.3432. Epub 2017 Jul 10. Nat Struct Mol Biol. 2017. PMID: 28692038 Free PMC article.
RNA-seq: Basic Bioinformatics Analysis.
Ji F, Sadreyev RI. Ji F, et al. Curr Protoc Mol Biol. 2018 Oct;124(1):e68. doi: 10.1002/cpmb.68. Epub 2018 Sep 17. Curr Protoc Mol Biol. 2018. PMID: 30222249 Free PMC article.
188 results