Pharmacologic Correction of Dominant‐Negative GH1 Deficiency Causing Mutations

di Poling, Justin S., Phillips III, John A., Cogan, Joy D., Hamid, Rizwan
Pubblicato in Clin Transl Sci (2011)

Role ofBMPR2 Alternative Splicing in HPAH Penetrance

di Cogan, Joy, Austin, Eric, Hedges, Lora, Womack, Bethany, West, James, Loyd, James, Hamid, Rizwan
Pubblicazione 2012

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

di Wang, Jing, Dai, Xizhen, Berry, Lynne D, Cogan, Joy D, Liu, Qi, Shyr, Yu
Pubblicato in Nucleic Acids Res (2019)

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

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

The Y Chromosome Regulates BMPR2 Expression via SRY: A Possible Reason “Why” Fewer Males Develop Pulmonary Arterial Hypertension

di Yan, Ling, Cogan, Joy D., Hedges, Lora K., Nunley, Bethany, Hamid, Rizwan, Austin, Eric D.
Pubblicato in Am J Respir Crit Care Med (2018)

Gene expression in BMPR2 mutation carriers with and without evidence of Pulmonary Arterial Hypertension suggests pathways relevant to disease penetrance

di West, James, Cogan, Joy, Geraci, Mark, Robinson, Linda, Newman, John, Phillips, John A, Lane, Kirk, Meyrick, Barbara, Loyd, Jim
Pubblicazione 2008

Penetrance of Pulmonary Arterial Hypertension is modulated by the expression of normal BMPR2 allele

di Hamid, Rizwan, Cogan, Joy D., Hedges, Lora K., Austin, Eric, Phillips, John A., Newman, John H., Loyd, James E.
Pubblicazione 2009

Genome-Wide Association Study of 58 Individuals with Fibrosing Mediastinitis Reveals Possible Underlying Genetic Susceptibility

di Richmond, Bradley W., Guo, Yan, Yu, Chang, Kendall, Peggy L., Mason, Wendi R., Cogan, Joy D., Loyd, James E.
Pubblicato in Am J Respir Crit Care Med (2018)

Fibrosing mediastinitis complicating prior histoplasmosis is associated with human leukocyte antigen DQB1*04:02 − a case control study

di Strock, Stephen B, Gaudieri, Silvana, Mallal, Simon, Yu, Chang, Mitchell, Daphne, Cogan, Joy, Mason, Wendi, Crowe, Deborah, Loyd, James E
Pubblicato in BMC Infect Dis (2015)

Proteomics of Transformed Lymphocytes from a Family with Familial Pulmonary Arterial Hypertension

di Meyrick, Barbara O., Friedman, David B., Billheimer, D. Dean, Cogan, Joy D., Prince, Melissa A., Phillips, John A., Loyd, James E.
Pubblicazione 2008

Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

di Bhatia, Aashim, Mobley, Bret C., Cogan, Joy, Koziura, Mary E., Brokamp, Elly, Phillips, John, Newman, John, Moore, Steven A., Hamid, Rizwan
Pubblicato in Clin Imaging (2019)

A Molecular Basis for Variation in Clinical Severity of Isolated Growth Hormone Deficiency Type II

di Hamid, Rizwan, Phillips, John A., Holladay, Cindy, Cogan, Joy D., Austin, Eric D., Backeljauw, Philippe F., Travers, Sharon H., Patton, James G.
Pubblicazione 2009

TBX4 Transcription Factor Is a Positive Feedback Regulator of Itself and Phospho-SMAD1/5

di Cai, Ying, Yan, Ling, Kielt, Matthew J., Cogan, Joy D., Hedges, Lora K., Nunley, Bethany, West, James, Austin, Eric D., Hamid, Rizwan
Pubblicato in Am J Respir Cell Mol Biol (2021)

Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia

di Sivley, R. Michael, Sheehan, Jonathan H., Kropski, Jonathan A., Cogan, Joy, Blackwell, Timothy S., Phillips, John A., Bush, William S., Meiler, Jens, Capra, John A.
Pubblicato in BMC Bioinformatics (2018)

Phenotypic Heterogeneity of ZMPSTE24 Deficiency

di Cassini, Thomas A, Robertson, Amy K, Bican, Anna G, Cogan, Joy D, Hannig, Vickie L, Newman, John H, Hamid, Rizwan, Phillips, John A
Pubblicato in Am J Med Genet A (2018)

Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms

di Cassini, Thomas A., Duncan, Laura, Rives, Lynette C., Newman, John H., Phillips, John A., Koziura, Mary E., Brault, Jennifer, Hamid, Rizwan, Cogan, Joy
Pubblicato in Mol Genet Genomic Med (2019)

Connectivity Map Analysis of Nonsense-Mediated Decay–Positive BMPR2-Related Hereditary Pulmonary Arterial Hypertension Provides Insights into Disease Penetrance

di Flynn, Charles, Zheng, Siyuan, Yan, Ling, Hedges, Lora, Womack, Bethany, Fessel, Josh, Cogan, Joy, Austin, Eric, Loyd, James, West, James, Zhao, Zhongming, Hamid, Rizwan
Pubblicazione 2012

Bone Marrow–derived Cells Contribute to the Pathogenesis of Pulmonary Arterial Hypertension

di Yan, Ling, Chen, Xinping, Talati, Megha, Nunley, Bethany Womack, Gladson, Santhi, Blackwell, Tom, Cogan, Joy, Austin, Eric, Wheeler, Ferrin, Loyd, James, West, James, Hamid, Rizwan
Pubblicato in Am J Respir Crit Care Med (2016)

The Enteropathy of Prostaglandin Deficiency

di Adler, David H., Phillips, John A., Cogan, Joy D., Iverson, Tina M., Stein, Jeffrey A., Brenner, David A., Morrow, Jason D., Boutaud, Olivier, Oates, John A.
Pubblicazione 2009

Rare Genetic Variants in PARN Are Associated with Pulmonary Fibrosis in Families

di Kropski, Jonathan A., Reiss, Sara, Markin, Cheryl, Brown, Kevin K., Schwartz, David A., Schwarz, Marvin I., Loyd, James E., Phillips, John A., Blackwell, Timothy S., Cogan, Joy D.
Pubblicato in Am J Respir Crit Care Med (2017)