Cogan JD - Search Results

1

Limitations of exome sequencing in detecting rare and undiagnosed diseases.

Burdick KJ, Cogan JD, Rives LC, Robertson AK, Koziura ME, Brokamp E, Duncan L, Hannig V, Pfotenhauer J, Vanzo R, Paul MS, Bican A, Morgan T, Duis J, Newman JH, Hamid R, Phillips JA 3rd; Undiagnosed Diseases Network. Burdick KJ, et al. Among authors: cogan jd. Am J Med Genet A. 2020 Jun;182(6):1400-1406. doi: 10.1002/ajmg.a.61558. Epub 2020 Mar 19. Am J Med Genet A. 2020. PMID: 32190976 Free PMC article.

2

Heterogeneity in hereditary pancreatitis.

Dasouki MJ, Cogan J, Summar ML, Neblitt W 3rd, Foroud T, Koller D, Phillips JA 3rd. Dasouki MJ, et al. Am J Med Genet. 1998 Apr 28;77(1):47-53. Am J Med Genet. 1998. PMID: 9557894

3

Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension.

Cogan JD, Vnencak-Jones CL, Phillips JA 3rd, Lane KB, Wheeler LA, Robbins IM, Garrison G, Hedges LK, Loyd JE. Cogan JD, et al. Genet Med. 2005 Mar;7(3):169-74. doi: 10.1097/01.gim.0000156525.09595.e9. Genet Med. 2005. PMID: 15775752

4

High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension.

Cogan JD, Pauciulo MW, Batchman AP, Prince MA, Robbins IM, Hedges LK, Stanton KC, Wheeler LA, Phillips JA 3rd, Loyd JE, Nichols WC. Cogan JD, et al. Am J Respir Crit Care Med. 2006 Sep 1;174(5):590-8. doi: 10.1164/rccm.200602-165OC. Epub 2006 May 25. Am J Respir Crit Care Med. 2006. PMID: 16728714 Free PMC article.

5

New methods in genetic diagnosis including prenatal diagnosis.

Cogan JD, Phillips JA 3rd. Cogan JD, et al. Pediatr Endocrinol Rev. 2006 Aug;3 Suppl 3:424-33; discussion 434-6. Pediatr Endocrinol Rev. 2006. PMID: 17551462 Review.

6

Proteomics of transformed lymphocytes from a family with familial pulmonary arterial hypertension.

Meyrick BO, Friedman DB, Billheimer DD, Cogan JD, Prince MA, Phillips JA 3rd, Loyd JE. Meyrick BO, et al. Among authors: cogan jd. Am J Respir Crit Care Med. 2008 Jan 1;177(1):99-107. doi: 10.1164/rccm.200703-499OC. Epub 2007 Oct 11. Am J Respir Crit Care Med. 2008. PMID: 17932379 Free PMC article.

7

Inherited human cPLA(2alpha) deficiency is associated with impaired eicosanoid biosynthesis, small intestinal ulceration, and platelet dysfunction.

Adler DH, Cogan JD, Phillips JA 3rd, Schnetz-Boutaud N, Milne GL, Iverson T, Stein JA, Brenner DA, Morrow JD, Boutaud O, Oates JA. Adler DH, et al. Among authors: cogan jd. J Clin Invest. 2008 Jun;118(6):2121-31. doi: 10.1172/JCI30473. J Clin Invest. 2008. PMID: 18451993 Free PMC article.

8

Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension.

Phillips JA 3rd, Poling JS, Phillips CA, Stanton KC, Austin ED, Cogan JD, Wheeler L, Yu C, Newman JH, Dietz HC, Loyd JE. Phillips JA 3rd, et al. Among authors: cogan jd. Genet Med. 2008 May;10(5):359-65. doi: 10.1097/GIM.0b013e318172dcdf. Genet Med. 2008. PMID: 18496036 Free article.

9

The enteropathy of prostaglandin deficiency.

Adler DH, Phillips JA 3rd, Cogan JD, Iverson TM, Schnetz-Boutaud N, Stein JA, Brenner DA, Milne GL, Morrow JD, Boutaud O, Oates JA. Adler DH, et al. Among authors: cogan jd. J Gastroenterol. 2009;44 Suppl 19(Suppl 19):1-7. doi: 10.1007/s00535-008-2253-y. Epub 2009 Jan 16. J Gastroenterol. 2009. PMID: 19148786 Free PMC article.

10

Penetrance of pulmonary arterial hypertension is modulated by the expression of normal BMPR2 allele.

Hamid R, Cogan JD, Hedges LK, Austin E, Phillips JA 3rd, Newman JH, Loyd JE. Hamid R, et al. Among authors: cogan jd. Hum Mutat. 2009 Apr;30(4):649-54. doi: 10.1002/humu.20922. Hum Mutat. 2009. PMID: 19206171 Free PMC article.

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