HACER: an atlas of human active enhancers to interpret regulatory variants

por Wang, Jing, Dai, Xizhen, Berry, Lynne D, Cogan, Joy D, Liu, Qi, Shyr, Yu
Publicado 2019

Copy-number variation in BMPR2 is not associated with the pathogenesis of pulmonary arterial hypertension

por Johnson, Jennifer A, Vnencak-Jones, Cindy L, Cogan, Joy D, Loyd, James E, West, James
Publicado 2009

Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases

por Schuler, Bryce A., Nelson, Erica T., Koziura, Mary, Cogan, Joy D., Hamid, Rizwan, Phillips, John A.
Publicado 2022

Peripheral Blood Telomere Attrition in Persons at Risk for Familial Pulmonary Fibrosis

por Salisbury, Margaret L., Markin, Cheryl R., Wu, Pingsheng, Cogan, Joy D., Mitchell, Daphne B., Liu, Qi, Loyd, James E., Lancaster, Lisa H., Kropski, Jonathan A., Blackwell, Timothy S.
Publicado 2022

Ancestral Mutation in Telomerase Causes Defects in Repeat Addition Processivity and Manifests As Familial Pulmonary Fibrosis

por Alder, Jonathan K., Cogan, Joy D., Brown, Andrew F., Anderson, Collin J., Lawson, William E., Lansdorp, Peter M., Phillips, John A., Loyd, James E., Chen, Julian J.-L., Armanios, Mary
Publicado 2011

Low-grade albuminuria in pulmonary arterial hypertension

por Nickel, Nils P., de Jesus Perez, Vinicio A., Zamanian, Roham T., Fessel, Joshua P., Cogan, Joy D., Hamid, Rizwam, West, James D., de Caestecker, Mark P., Yang, Haichun, Austin, Eric D.
Publicado 2019

Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension

por Austin, Eric D, Phillips, John A, Cogan, Joy D, Hamid, Rizwan, Yu, Chang, Stanton, Krista C, Phillips, Charles A, Wheeler, Lisa A, Robbins, Ivan M, Newman, John H, Loyd, James E
Publicado 2009

Increased prevalence of EPAS1 variant in cattle with high-altitude pulmonary hypertension

por Newman, John H., Holt, Timothy N., Cogan, Joy D., Womack, Bethany, Phillips, John A., Li, Chun, Kendall, Zachary, Stenmark, Kurt R., Thomas, Milton G., Brown, R. Dale, Riddle, Suzette R., West, James D., Hamid, Rizwan
Publicado 2015

Idiopathic and heritable PAH perturb common molecular pathways, correlated with increased MSX1 expression

por Austin, Eric D., Menon, Swapna, Hemnes, Anna R., Robinson, Linda R., Talati, Megha, Fox, Kelly L., Cogan, Joy D., Hamid, Rizwan, Hedges, Lora K., Robbins, Ivan, Lane, Kirk, Newman, John H., Loyd, James E., West, James
Publicado 2011

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

por Mukherjee, Souhrid, Cassini, Thomas A., Hu, Ningning, Yang, Tao, Li, Bian, Shen, Wangzhen, Moth, Christopher W., Rinker, David C., Sheehan, Jonathan H., Cogan, Joy D., Newman, John H., Hamid, Rizwan, Macdonald, Robert L., Roden, Dan M., Meiler, Jens, Kuenze, Georg, Phillips, John A., Capra, John A.
Publicado 2022

Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis

por Fingerlin, Tasha E., Murphy, Elissa, Zhang, Weiming, Peljto, Anna L., Brown, Kevin K., Steele, Mark P., Loyd, James E., Cosgrove, Gregory P., Lynch, David, Groshong, Steve, Collard, Harold R., Wolters, Paul J., Bradford, Williamson Z., Kossen, Karl, Seiwert, Scott D., du Bois, Roland M., Garcia, Christine Kim, Devine, Megan S., Gudmundsson, Gunnar, Isaksson, Helgi J., Kaminski, Naftali, Zhang, Yingze, Gibson, Kevin F., Lancaster, Lisa H., Cogan, Joy D., Mason, Wendi R., Maher, Toby M., Molyneaux, Philip L., Wells, Athol U., Moffatt, Miriam F., Selman, Moises, Pardo, Annie, Kim, Dong Soon, Crapo, James D., Make, Barry J., Regan, Elizabeth A., Walek, Dinesha S., Daniel, Jerry J., Kamatani, Yoichiro, Zelenika, Diana, Smith, Keith, McKean, David, Pedersen, Brent S., Talbert, Janet, Kidd, Ravin N., Markin, Cheryl R., Beckman, Kenneth B., Lathrop, Mark, Schwarz, Marvin I., Schwartz, David A.
Publicado 2013