Cogan J - Search Results

1

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.

Kobren SN, Baldridge D, Velinder M, Krier JB, LeBlanc K, Esteves C, Pusey BN, Züchner S, Blue E, Lee H, Huang A, Bastarache L, Bican A, Cogan J, Marwaha S, Alkelai A, Murdock DR, Liu P, Wegner DJ, Paul AJ; Undiagnosed Diseases Network; Sunyaev SR, Kohane IS. Kobren SN, et al. Among authors: cogan j. Genet Med. 2021 Jun;23(6):1075-1085. doi: 10.1038/s41436-020-01084-8. Epub 2021 Feb 12. Genet Med. 2021. PMID: 33580225 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. Among authors: cogan j. 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

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.

5

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. 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.

6

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. Genet Med. 2008 May;10(5):359-65. doi: 10.1097/GIM.0b013e318172dcdf. Genet Med. 2008. PMID: 18496036 Free article.

7

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. Hum Mutat. 2009 Apr;30(4):649-54. doi: 10.1002/humu.20922. Hum Mutat. 2009. PMID: 19206171 Free PMC article.

8

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

Austin ED, Phillips JA, Cogan JD, Hamid R, Yu C, Stanton KC, Phillips CA, Wheeler LA, Robbins IM, Newman JH, Loyd JE. Austin ED, et al. Respir Res. 2009 Sep 28;10(1):87. doi: 10.1186/1465-9921-10-87. Respir Res. 2009. PMID: 19785764 Free PMC article.

9

A molecular basis for variation in clinical severity of isolated growth hormone deficiency type II.

Hamid R, Phillips JA 3rd, Holladay C, Cogan JD, Austin ED, Backeljauw PF, Travers SH, Patton JG. Hamid R, et al. J Clin Endocrinol Metab. 2009 Dec;94(12):4728-34. doi: 10.1210/jc.2009-0746. Epub 2009 Oct 16. J Clin Endocrinol Metab. 2009. PMID: 19837935 Free PMC article.

10

Pharmacologic correction of dominant-negative GH1 deficiency causing mutations.

Poling JS, Phillips JA 3rd, Cogan JD, Hamid R. Poling JS, et al. Clin Transl Sci. 2011 Jun;4(3):175-9. doi: 10.1111/j.1752-8062.2011.00290.x. Clin Transl Sci. 2011. PMID: 21707947 Free PMC article.

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