GeT-RM Publications

Hereditary Genetic Disorders and HLA Testing

Wilcox E, Harrison SM, Lockhart E, Voelkerding K, Lubin IM, Clingen Expert Panels, et al. Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Projectexternal icon. J Mol Diag 2021 23:1501-1506 

Prior TW, Bayrak-Toydemir PLynnes TC, Mao R, Metcalf JD, Muralidharan K, et al. Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Projectexternal icon. J Mol Diag, 2021, 23:103-110

Bettinotti MP, Ferriola D, Duke JL, Mosbruger TL, Tairis N, Jennings L, et al. Characterization of 108 Genomic DNA Reference Materials for 11 Human Leukocyte Antigen Loci: A GeT-RM Collaborative Projectexternal icon.  J Mol Diag 2018, 20:703-715

Kalman L, Tarleton J, Percy A, Aradhya S, Bale S, Barker S, et al. Development of a genomic DNA reference material panel for Rett Syndrome (MECP2-related disorders) Genetic Testingexternal icon. J Mol Diag. 2014 16:273-279

Kalman L, Tarleton J, Hitch M, Hegde M, Hjelm N, Berry-Kravis E, et al. Development of a Genomic DNA Reference Material Panel for Myotonic Dystrophy type 1 (DM1) Genetic Testingexternal icon. J Mol Diag. 2013 15:518-525

Kalman L, Leonard J, Gerry N, Tarleton J, Bridges C, Gastier-Foster JM, et al. Quality Assurance for Duchenne and Becker Muscular Dystrophy Genetic Testing: Development of a Genomic DNA Reference Material Panelpdf iconexternal icon.  J Mol Diag, 2011 Mar;13(2):167-74

Barker SD, Bale S, Buller A, Das S, Friedman K, Godwin AK, et al. Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testingexternal icon J Mol Diagn. 2009 Nov;11(6):553-61

Kalman LV, Amos Wilson J, Buller A, Dixon J, Edelmann L, Geller L, et al. Characterization of Genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi Jewish decentexternal icon.  J Mol Diagn. 2009 Nov;11(6):530-6.

Pratt VM, Caggana M, Bridges C, Buller AM, DiAntonio L, Highsmith EW, et al. Development of Genomic Reference Materials for Cystic Fibrosis Genetic Testingexternal icon. J Mol Diagn. 2009 11:186-93

Wilson JA, Pratt VM, Phansalkar A, Muralidharan K, Highsmith Jr WE, Beck JC, et al. Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Studypdf iconexternal icon.  J Mol Diagn. 2008 10:2-12.

Kalman L, Johnson MA, Beck J, Berry-Kravis E, Buller A, Casey B, et al. Development of genomic reference materials for Huntington disease genetic testing.external icon  Genetics in Medicine 2007 9:719-723.

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Page last reviewed: November 18, 2021