Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis von Butterfield, Russell J, Stevenson, Tamara J, Xing, Lingyan, Newcomb, Tara M, Nelson, Benjamin, Zeng, Wenqi, Li, Xiang, Lu, Hsiao-Mei, Lu, Hong, Farwell Gonzalez, Kelly D, Wei, Jia-Perng, Chao, Elizabeth C, Prior, Thomas W, Snyder, Pamela J, Bonkowsky, Joshua L, Swoboda, Kathryn J

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Patient decisions for disclosure of secondary findings among the first 200 individuals undergoing clinical diagnostic exome sequencing von Shahmirzadi, Layla, Chao, Elizabeth C., Palmaer, Erika, Parra, Melissa C., Tang, Sha, Gonzalez, Kelly D. Farwell

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Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations von Basel-Vanagaite, Lina, Yilmaz, Rüstem, Tang, Sha, Reuter, Miriam S., Rahner, Nils, Grange, Dorothy K., Mortenson, Megan, Koty, Patrick, Feenstra, Heather, Farwell Gonzalez, Kelly D., Sticht, Heinrich, Boddaert, Nathalie, Désir, Julie, Anyane-Yeboa, Kwame, Zweier, Christiane, Reis, André, Kubisch, Christian, Jewett, Tamison, Zeng, Wenqi, Borck, Guntram

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Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1 Genes von Farwell Gonzalez, Kelly D., Li, Xiang, Lu, Hsiao-Mei, Lu, Hong, Pellegrino, Joan E., Miller, Ryan T., Zeng, Wenqi, Chao, Elizabeth C.

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Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis von Powis, Zöe, Farwell Hagman, Kelly D, Speare, Virginia, Cain, Taylor, Blanco, Kirsten, Mowlavi, Layla S, Mayerhofer, Emily M, Tilstra, David, Vedder, Timothy, Hunter, Jesse M, Tsang, Marilyn, Gonzalez, Lina, Vockley, Gerald, Tang, Sha

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