Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease by Tanner, Alice K, Chin, Ephrem L H, Duffner, Patricia K, Hegde, Madhuri

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Assessment of clinical analytical sensitivity and specificity of next-generation sequencing for detection of simple and complex mutations by Chin, Ephrem L H, da Silva, Cristina, Hegde, Madhuri

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Assuring the quality of next-generation sequencing in clinical laboratory practice by Gargis, Amy S, Kalman, Lisa, Berry, Meredith W, Bick, David P, Dimmock, David P, Hambuch, Tina, Lu, Fei, Lyon, Elaine, Voelkerding, Karl V, Zehnbauer, Barbara A, Agarwala, Richa, Bennett, Sarah F, Chen, Bin, Chin, Ephrem L H, Compton, John G, Das, Soma, Farkas, Daniel H, Ferber, Matthew J, Funke, Birgit H, Furtado, Manohar R, Ganova-Raeva, Lilia M, Geigenmüller, Ute, Gunselman, Sandra J, Hegde, Madhuri R, Johnson, Philip L F, Kasarskis, Andrew, Kulkarni, Shashikant, Lenk, Thomas, Liu, C S Jonathan, Manion, Megan, Manolio, Teri A, Mardis, Elaine R, Merker, Jason D, Rajeevan, Mangalathu S, Reese, Martin G, Rehm, Heidi L, Simen, Birgitte B, Yeakley, Joanne M, Zook, Justin M, Lubin, Ira M

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Detection limit of intragenic deletions with targeted array comparative genomic hybridization by Askree, S Hussain, Chin, Ephrem L H, Bean, Lora H, Coffee, Bradford, Tanner, Alice, Hegde, Madhuri

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