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Impact of Larger Sputum Volume on Xpert® MTB/RIF Assay Detection of Mycobacterium tuberculosis in Smear-Negative Individuals with Suspected Tuberculosis.
Badal-Faesen S, Firnhaber C, Kendall MA, Wu X, Grinsztejn B, Escada RODS, Fernandez M, Hogg E, Sanne I, Johnson P, Alland D, Mazurek GH, Benator DA, Luetkemeyer AF; AIDS Clinical Trials Group A5295; Tuberculosis Trials Consortium Study 34 Teams. Badal-Faesen S, et al. J Clin Med. 2017 Aug 7;6(8):78. doi: 10.3390/jcm6080078. J Clin Med. 2017. PMID: 28783093 Free PMC article.
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.
Tolchin D, Yeager JP, Prasad P, Dorrani N, Russi AS, Martinez-Agosto JA, Haseeb A, Angelozzi M, Santen GWE, Ruivenkamp C, Mercimek-Andrews S, Depienne C, Kuechler A, Mikat B, Ludecke HJ, Bilan F, Le Guyader G, Gilbert-Dussardier B, Keren B, Heide S, Haye D, Van Esch H, Keldermans L, Ortiz D, Lancaster E, Krantz ID, Krock BL, Pechter KB, Arkader A, Medne L, DeChene ET, Calpena E, Melistaccio G, Wilkie AOM, Suri M, Foulds N; Genomics England Research Consortium; Begtrup A, Henderson LB, Forster C, Reed P, McDonald MT, McConkie-Rosell A, Thevenon J, Le Tanno P, Coutton C, Tsai ACH, Stewart S, Maver A, Gorazd R, Pichon O, Nizon M, Cogné B, Isidor B, Martin-Coignard D, Stoeva R, Lefebvre V, Le Caignec C. Tolchin D, et al. Am J Hum Genet. 2020 Jun 4;106(6):830-845. doi: 10.1016/j.ajhg.2020.04.015. Epub 2020 May 21. Am J Hum Genet. 2020. PMID: 32442410 Free PMC article.