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2014 1
2016 1
2018 1
2019 2
2022 0
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Page 1
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
LaCroix AJ, Stabley D, Sahraoui R, Adam MP, Mehaffey M, Kernan K, Myers CT, Fagerstrom C, Anadiotis G, Akkari YM, Robbins KM, Gripp KW, Baratela WAR, Bober MB, Duker AL, Doherty D, Dempsey JC, Miller DG, Kircher M, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Mefford HC, Sol-Church K. LaCroix AJ, et al. Among authors: sahraoui r. Am J Hum Genet. 2019 Jan 3;104(1):35-44. doi: 10.1016/j.ajhg.2018.11.005. Epub 2018 Dec 13. Am J Hum Genet. 2019. PMID: 30554721 Free PMC article.
Paternal uniparental disomy with segmental loss of heterozygosity of chromosome 11 are hallmark characteristics of syndromic and sporadic embryonal rhabdomyosarcoma.
Robbins KM, Stabley DL, Holbrook J, Sahraoui R, Sadreameli A, Conard K, Baker L, Gripp KW, Sol-Church K. Robbins KM, et al. Among authors: sahraoui r. Am J Med Genet A. 2016 Dec;170(12):3197-3206. doi: 10.1002/ajmg.a.37949. Epub 2016 Sep 2. Am J Med Genet A. 2016. PMID: 27589201 Free PMC article.