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Year Number of Results
2014 1
2016 1
2018 1
2019 2
2020 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.
A Survey for Aedes aegypti in Delaware and the Virus-Positive Pool Rates of Aedes albopictus and Aedes triseriatus for West Nile and Zika Viruses.
Gingrich JB, Saltiel TM, Vincent Z, Sahraoui R. Gingrich JB, et al. Among authors: sahraoui r. J Am Mosq Control Assoc. 2019 Jun;35(2):91-96. doi: 10.2987/18-6794.1. J Am Mosq Control Assoc. 2019. PMID: 31442131
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.
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28.
Gripp KW, Curry C, Olney AH, Sandoval C, Fisher J, Chong JX; UW Center for Mendelian Genomics, Pilchman L, Sahraoui R, Stabley DL, Sol-Church K. Gripp KW, et al. Among authors: sahraoui r. Am J Med Genet A. 2014 Sep;164A(9):2240-9. doi: 10.1002/ajmg.a.36633. Epub 2014 Jun 18. Am J Med Genet A. 2014. PMID: 24942156 Free PMC article.