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Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.
Valencia CA, Husami A, Holle J, Johnson JA, Qian Y, Mathur A, Wei C, Indugula SR, Zou F, Meng H, Wang L, Li X, Fisher R, Tan T, Hogart Begtrup A, Collins K, Wusik KA, Neilson D, Burrow T, Schorry E, Hopkin R, Keddache M, Harley JB, Kaufman KM, Zhang K. Valencia CA, et al. Among authors: keddache m. Front Pediatr. 2015 Aug 3;3:67. doi: 10.3389/fped.2015.00067. eCollection 2015. Front Pediatr. 2015. PMID: 26284228 Free PMC article.
NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation.
Yu Y, Choi K, Wu J, Andreassen PR, Dexheimer PJ, Keddache M, Brems H, Spinner RJ, Cancelas JA, Martin LJ, Wallace MR, Legius E, Vogel KS, Ratner N. Yu Y, et al. Among authors: keddache m. Acta Neuropathol. 2020 Jan;139(1):157-174. doi: 10.1007/s00401-019-02086-w. Epub 2019 Oct 29. Acta Neuropathol. 2020. PMID: 31664505 Free PMC article.
Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy.
Glauser TA, Holland K, O'Brien VP, Keddache M, Martin LJ, Clark PO, Cnaan A, Dlugos D, Hirtz DG, Shinnar S, Grabowski G; Childhood Absence Epilepsy Study Group. Glauser TA, et al. Among authors: keddache m. Ann Neurol. 2017 Mar;81(3):444-453. doi: 10.1002/ana.24886. Ann Neurol. 2017. PMID: 28165634 Free PMC article. Clinical Trial.
The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1.
Thompson SD, Sudman M, Ramos PS, Marion MC, Ryan M, Tsoras M, Weiler T, Wagner M, Keddache M, Haas JP, Mueller C, Prahalad S, Bohnsack J, Wise CA, Punaro M, Zhang D, Rosé CD, Comeau ME, Divers J, Glass DN, Langefeld CD. Thompson SD, et al. Among authors: keddache m. Arthritis Rheum. 2010 Nov;62(11):3265-76. doi: 10.1002/art.27688. Arthritis Rheum. 2010. PMID: 20722033 Free PMC article.
50 results