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Germline mosaicism in Cornelia de Lange syndrome.
Slavin TP, Lazebnik N, Clark DM, Vengoechea J, Cohen L, Kaur M, Konczal L, Crowe CA, Corteville JE, Nowaczyk MJ, Byrne JL, Jackson LG, Krantz ID. Slavin TP, et al. Among authors: corteville je. Am J Med Genet A. 2012 Jun;158A(6):1481-5. doi: 10.1002/ajmg.a.35381. Epub 2012 May 11. Am J Med Genet A. 2012. PMID: 22581668 Free PMC article.
Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta.
Tran TT, Keller RB, Guillemyn B, Pepin M, Corteville JE, Khatib S, Fallah MS, Zeinali S, Malfait F, Symoens S, Coucke P, Witters P, Levtchenko E, Bagherian H, Nickerson DA, Bamshad MJ, Chong JX; University of Washington Center for Mendelian Genomics; Byers PH. Tran TT, et al. Among authors: corteville je. HGG Adv. 2021 Aug 20;2(4):100051. doi: 10.1016/j.xhgg.2021.100051. eCollection 2021 Oct 14. HGG Adv. 2021. PMID: 35047842 Free PMC article.
Utility of fetal muscle biopsy for diagnosis of nemaline myopathy.
Kasperski SB, Brennan AM, Corteville JE, Finkel RS, Golden J, Johnson MP, Wilson RD. Kasperski SB, et al. Among authors: corteville je. Fetal Diagn Ther. 2008;24(4):400-4. doi: 10.1159/000170095. Epub 2008 Nov 6. Fetal Diagn Ther. 2008. PMID: 18987477