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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 Project. J Mol Diag 2021 23:1501-1506.

Prior TW, Bayrak-Toydemir P, Lynnes 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 Project. 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 Project.  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 Testing. 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 Testing. 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 Panel.  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 testing J Mol Diag 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 decent.  J Mol Diag 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 Testing. J Mol Diag 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 Study.  J Mol Diag 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.  Genetics in Medicine 2007 9:719-723.

Pharmacogenetics

Gaedigk A, Boone EC, Turner A, van Schaik R, Cheranova D, Wang WY, et al. Characterization of Reference Materials for CYP3A4 and CYP3A5- A GeT-RM Collaborative Project. J Mol Diag 2023 25:655-664.

Pratt VM, Wang WY, Boone EC, Broeckel U, Cody N, Edelmann L, et al. Characterization of Reference Materials for TPMT and NUDT15 - A GeT-RM Collaborative Project. J Mol Diag 2022, 24:1079-1088.

Gaedigk A, Boone EC, Scherer S, Lee S, Numanagic I, Sahinalp C, et al. Characterization of Reference Materials for CYP2C8, CYP2C9 and CYP2C19 by Next Generation sequencing: A GeT-RM Collaborative Project. J Mol Diag 2022, 24:337-350.

Pratt, VM, Turner A, Broeckel U, Dawson BD, Gaedigk A, Lynnes, et al. Characterization of Reference Materials for CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, GGCX, and Other Pharmacogenetic Alleles with an Association for Molecular Pathology (AMP) Pharmacogenetics Working Group Tier 2 Status – A GeT-RM Collaborative Project. J Mol Diag 2021, 23:952-958.

Gaedigk A, Turner A, Everts RE, Scott SA, Aggarwal P, Broeckel U, et al. Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles A GeT-RM Collaborative Project. J Mol Diag 2019 21:1034-1052.

Pratt VM, Everts RE, Aggarwal P, Beyer BN, Broeckel U, Epstein-Baak R, et al. Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project. J Mol Diag 2016 18:109-123.

Pratt VM, Zehnbauer B, Wilson JA, Baak R, Babic N, Bettinotti M, et al. Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1 and UGT1A1: A GeT-RM and Association for Molecular Pathology collaborative project. J Mol Diag 2010 12:835-846.

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