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Investigative Ophthalmology & Visual Science|December 1, 2001
Glutathione peroxidase-1 deficiency leads to increased nuclear light scattering, membrane damage, and cataract formation in gene-knockout miceV N Reddy, F J Giblin, L R Lin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 23, 2008
Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertensionJohn A Phillips, Justin S Poling, Charles A Phillips, et al.
Journal of Gastroenterology|January 17, 2009
The enteropathy of prostaglandin deficiencyDavid H Adler, John A Phillips, Joy D Cogan, et al.
IEEE Transactions on Ultrasonics, Ferroelectrics, and Frequency Control|June 25, 2014
Reconfigurable mosaic annular arraysKai E Thomenius, Robert Wodnicki, Scott D Cogan, et al.
American Journal of Respiratory and Critical Care Medicine|May 27, 2006
High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertensionJoy D Cogan, Michael W Pauciulo, Amy P Batchman, et al.
American Journal of Physiology. Lung Cellular and Molecular Physiology|December 27, 2011
Loss-of-function thrombospondin-1 mutations in familial pulmonary hypertensionJames P Maloney, Robert S Stearman, Todd M Bull, et al.
Nature Genetics|February 14, 1998
Mutations in PROP1 cause familial combined pituitary hormone deficiencyW Wu, J D Cogan, R W Pfäffle, et al.
American Journal of Medical Genetics. Part A|May 29, 2023
The contribution of mosaicism to genetic diseases and de novo pathogenic variantsRory J Tinker, Lisa Bastarache, Kimberly Ezell, et al.
Molecular Genetics and Metabolism Reports|October 22, 2024
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 recessive conditionKimberly M Ezell, Yutaka Furuta, Devin Oglesbee, et al.
Chest|April 8, 2010
Identification of early interstitial lung disease in an individual with genetic variations in ABCA3 and SFTPCPeter F Crossno, Vasiliy V Polosukhin, Timothy S Blackwell, et al.
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