Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases by Bryce A. Schuler, Erica T. Nelson, Mary Koziura, Joy D. Cogan, Rizwan Hamid, John A. Phillips III

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A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases by Yutaka Furuta, Rory J. Tinker, Rizwan Hamid, Joy D. Cogan, Kimberly M. Ezell, Devin Oglesbee, Ralph J. DeBerardinis, John A. Phillips, the Undiagnosed Diseases Network

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Low-grade albuminuria in pulmonary arterial hypertension by Nils P. Nickel, Vinicio A. de Jesus Perez, Roham T. Zamanian, Joshua P. Fessel, Joy D. Cogan, Rizwam Hamid, James D. West, Mark P. de Caestecker, Haichun Yang, Eric D. Austin

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Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis. by Jonathan K Alder, Joy D Cogan, Andrew F Brown, Collin J Anderson, William E Lawson, Peter M Lansdorp, John A Phillips, James E Loyd, Julian J-L Chen, Mary Armanios

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Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal r... by Kimberly M. Ezell, Yutaka Furuta, Devin Oglesbee, Eniko K. Pivnick, David Rinker, Jonathan H. Sheehan, Rory J. Tinker, Rizwan Hamid, Joy D. Cogan, Lynette Rives, Serena Neumann, Brian Corner, Mary Koziura, John A. Phillips, III

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Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants by Souhrid Mukherjee, Thomas A. Cassini, Ningning Hu, Tao Yang, Bian Li, Wangzhen Shen, Christopher W. Moth, David C. Rinker, Jonathan H. Sheehan, Joy D. Cogan, John H. Newman, Rizwan Hamid, Robert L. Macdonald, Dan M. Roden, Jens Meiler, Georg Kuenze, John A. Phillips, John A. Capra

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