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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 19, 2005
Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertensionJoy D Cogan, Cindy L Vnencak-Jones, John A Phillips, et al.
American Journal of Medical Genetics. Part A|April 27, 2026
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic VariantsYutaka Furuta, Lynette C Rives, T Andrew Burrow, et al.
American Journal of Medical Genetics. Part A|October 28, 2023
Probable digenic inheritance of Diamond-Blackfan anemiaYutaka Furuta, Rory J Tinker, Alican Gulsevin, et al.
American Journal of Medical Genetics. Part A|March 21, 2024
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variantKimberly M Ezell, Rory J Tinker, Yutaka Furuta, et al.
The European Respiratory Journal|April 10, 2009
Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in femalesE D Austin, J D Cogan, J D West, et al.
Plos Genetics|April 13, 2011
Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosisJonathan K Alder, Joy D Cogan, Andrew F Brown, et al.
Pulmonary Circulation|January 12, 2019
Low-grade albuminuria in pulmonary arterial hypertensionNils P Nickel, Vinicio A de Jesus Perez, Roham T Zamanian, et al.
The Journal of Clinical Investigation|May 3, 2008
Inherited human cPLA(2alpha) deficiency is associated with impaired eicosanoid biosynthesis, small intestinal ulceration, and platelet dysfunctionDavid H Adler, Joy D Cogan, John A Phillips, et al.
Chest|February 8, 2014
A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumoniaJonathan A Kropski, Daphne B Mitchell, Cheryl Markin, et al.
Respiratory Research|September 30, 2009
Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertensionEric D Austin, John A Phillips, Joy D Cogan, et al.
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