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Journal of the American College of Cardiology|June 27, 2009
Genetics and genomics of pulmonary arterial hypertensionRajiv D Machado, Oliver Eickelberg, C Gregory Elliott, 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.
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.
American Journal of Respiratory and Critical Care Medicine|November 26, 2002
Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor IIJames R Runo, Cindy L Vnencak-Jones, Melissa Prince, et al.
Genetic Testing|December 4, 2003
High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testingSalmo Raskin, Lilian Pereira, Francisco Reis, 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.
Fertility and Sterility|June 11, 2017
Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a large cohort of familiesLacey S Williams, Durkadin Demir Eksi, Yiping Shen, et al.
Molecular and Cellular Endocrinology|April 10, 2024
Heterozygous ZNHIT3 variants within the 17q12 recurrent deletion region are associated with Mayer-Rokitansky-Kuster Hauser (MRKH) syndromeSoumia Brakta, Quansheng Du, Lynn P Chorich, et al.
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