Telomerase mutations in families with idiopathic pulmonary fibrosis MY Armanios, JJL Chen, JD Cogan, JK Alder, RG Ingersoll, C Markin, ... New England Journal of Medicine 356 (13), 1317-1326, 2007 | 1576 | 2007 |
Short telomeres are a risk factor for idiopathic pulmonary fibrosis JK Alder, JJL Chen, L Lancaster, S Danoff, S Su, JD Cogan, I Vulto, M Xie, ... Proceedings of the National Academy of Sciences 105 (35), 13051-13056, 2008 | 887 | 2008 |
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis TE Fingerlin, E Murphy, W Zhang, AL Peljto, KK Brown, MP Steele, ... Nature genetics 45 (6), 613-620, 2013 | 806 | 2013 |
Mutations in PROP1 cause familial combined pituitary hormone deficiency W Wu, JD Cogan, RW Pfäffle, JS Dasen, H Frisch, SM O'Connell, ... Nature genetics 18 (2), 147-149, 1998 | 671 | 1998 |
High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension JD Cogan, MW Pauciulo, AP Batchman, MA Prince, IM Robbins, ... American journal of respiratory and critical care medicine 174 (5), 590-598, 2006 | 279 | 2006 |
Alterations in oestrogen metabolism: implications for higher penetrance of familial pulmonary arterial hypertension in females ED Austin, JD Cogan, JD West, LK Hedges, R Hamid, EP Dawson, ... European Respiratory Journal 34 (5), 1093-1099, 2009 | 278 | 2009 |
The PROP1 2-base pair deletion is a common cause of combined pituitary hormone deficiency JD Cogan, W Wu, JA Phillips III, IJP Arnhold, A Agapito, OV Fofanova, ... The Journal of Clinical Endocrinology & Metabolism 83 (9), 3346-3349, 1998 | 263 | 1998 |
Rare variants in RTEL1 are associated with familial interstitial pneumonia JD Cogan, JA Kropski, M Zhao, DB Mitchell, L Rives, C Markin, ET Garnett, ... American journal of respiratory and critical care medicine 191 (6), 646-655, 2015 | 204 | 2015 |
Impaired adrenocorticotropin-adrenal axis in combined pituitary hormone deficiency caused by a two-base pair deletion (301–302delAG) in the prophet of Pit-1 gene F Pernasetti, SPA Toledo, VV Vasilyev, CY Hayashida, JD Cogan, ... The Journal of Clinical Endocrinology & Metabolism 85 (1), 390-397, 2000 | 190 | 2000 |
Inherited human cPLA2α deficiency is associated with impaired eicosanoid biosynthesis, small intestinal ulceration, and platelet dysfunction DH Adler, JD Cogan, JA Phillips, N Schnetz-Boutaud, GL Milne, T Iverson, ... The Journal of clinical investigation 118 (6), 2121-2131, 2008 | 189 | 2008 |
Extensive phenotyping of individuals at risk for familial interstitial pneumonia reveals clues to the pathogenesis of interstitial lung disease JA Kropski, JM Pritchett, DF Zoz, PF Crossno, C Markin, ET Garnett, ... American journal of respiratory and critical care medicine 191 (4), 417-426, 2015 | 166 | 2015 |
Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension JD Cogan, CL Vnencak-Jones, JA Phillips III, KB Lane, LA Wheeler, ... Genetics in Medicine 7 (3), 169-174, 2005 | 162 | 2005 |
A novel dyskerin (DKC1) mutation is associated with familial interstitial pneumonia JA Kropski, DB Mitchell, C Markin, VV Polosukhin, L Choi, JE Johnson, ... Chest 146 (1), e1-e7, 2014 | 156 | 2014 |
Gene expression in BMPR2 mutation carriers with and without evidence of pulmonary arterial hypertension suggests pathways relevant to disease penetrance J West, J Cogan, M Geraci, L Robinson, J Newman, JA Phillips, K Lane, ... BMC medical genomics 1, 1-11, 2008 | 150 | 2008 |
A novel mechanism of aberrant pre-mRNA splicing in humans JD Cogan, MA Prince, S Lekhakula, S Bundey, A Futrakul, EMS McCarthy, ... Human Molecular Genetics 6 (6), 909-912, 1997 | 142 | 1997 |
Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele R Hamid, JD Cogan, LK Hedges, E Austin, JA Phillips III, JH Newman, ... Human mutation 30 (4), 649-654, 2009 | 137 | 2009 |
Familial growth hormone deficiency: a model of dominant and recessive mutations affecting a monomeric protein JD Cogan, JA Phillips 3rd, SS Schenkman, RD Milner, N Sakati The Journal of Clinical Endocrinology & Metabolism 79 (5), 1261-1265, 1994 | 136 | 1994 |
Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosis JK Alder, JD Cogan, AF Brown, CJ Anderson, WE Lawson, PM Lansdorp, ... PLoS genetics 7 (3), e1001352, 2011 | 130 | 2011 |
A recurring dominant negative mutation causes autosomal dominant growth hormone deficiency--a clinical research center study JD Cogan, B Ramel, M Lehto, J Phillips 3rd, M Prince, RM Blizzard, ... The Journal of Clinical Endocrinology & Metabolism 80 (12), 3591-3595, 1995 | 119 | 1995 |
Heterogeneous growth hormone (GH) gene mutations in familial GH deficiency. JD Cogan, JA Phillips 3rd, N Sakati, H Frisch, E Schober, RD Milner The Journal of Clinical Endocrinology & Metabolism 76 (5), 1224-1228, 1993 | 119 | 1993 |