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Integrated genetic profiling of archival pediatric high-grade glial tumors and reassessment with 2021 WHO classification of paediatric CNS tumours.
Cooley LD, Lansdon LA, Laurence K, Herriges JC, Zhang L, Repnikova EA, Joyce J, Thakor P, Warren L, Smith SC, Yoo B, Gener M, Ginn KF, Farooqi MS. Cooley LD, et al. Among authors: repnikova ea. Cancer Genet. 2023 Jun;274-275:10-20. doi: 10.1016/j.cancergen.2023.02.004. Epub 2023 Mar 5. Cancer Genet. 2023. PMID: 36917897
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Talkowski ME, Mullegama SV, Rosenfeld JA, van Bon BW, Shen Y, Repnikova EA, Gastier-Foster J, Thrush DL, Kathiresan S, Ruderfer DM, Chiang C, Hanscom C, Ernst C, Lindgren AM, Morton CC, An Y, Astbury C, Brueton LA, Lichtenbelt KD, Ades LC, Fichera M, Romano C, Innis JW, Williams CA, Bartholomew D, Van Allen MI, Parikh A, Zhang L, Wu BL, Pyatt RE, Schwartz S, Shaffer LG, de Vries BB, Gusella JF, Elsea SH. Talkowski ME, et al. Among authors: repnikova ea. Am J Hum Genet. 2011 Oct 7;89(4):551-63. doi: 10.1016/j.ajhg.2011.09.011. Am J Hum Genet. 2011. PMID: 21981781 Free PMC article.
29 results