Cutting GR - Search Results

1

Accurate assignment of disease liability to genetic variants using only population data.

Collaco JM, Raraigh KS, Betz J, Aksit MA, Blau N, Brown J, Dietz HC, MacCarrick G, Nogee LM, Sheridan MB, Vernon HJ, Beaty TH, Louis TA, Cutting GR. Collaco JM, et al. Among authors: cutting gr. Genet Med. 2022 Jan;24(1):87-99. doi: 10.1016/j.gim.2021.08.012. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906463 Free PMC article.

2

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.

Dietz HC, Saraiva JM, Pyeritz RE, Cutting GR, Francomano CA. Dietz HC, et al. Among authors: cutting gr. Hum Mutat. 1992;1(5):366-74. doi: 10.1002/humu.1380010504. Hum Mutat. 1992. PMID: 1301946

3

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.

Dietz HC, Pyeritz RE, Puffenberger EG, Kendzior RJ Jr, Corson GM, Maslen CL, Sakai LY, Francomano CA, Cutting GR. Dietz HC, et al. Among authors: cutting gr. J Clin Invest. 1992 May;89(5):1674-80. doi: 10.1172/JCI115766. J Clin Invest. 1992. PMID: 1569206 Free PMC article.

4

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.

Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar EJ, Curristin SM, et al. Dietz HC, et al. Among authors: cutting gr. Nature. 1991 Jul 25;352(6333):337-9. doi: 10.1038/352337a0. Nature. 1991. PMID: 1852208

5

The skipping of constitutive exons in vivo induced by nonsense mutations.

Dietz HC, Valle D, Francomano CA, Kendzior RJ Jr, Pyeritz RE, Cutting GR. Dietz HC, et al. Among authors: cutting gr. Science. 1993 Jan 29;259(5095):680-3. doi: 10.1126/science.8430317. Science. 1993. PMID: 8430317

6

Both the wild type and a functional isoform of CFTR are expressed in kidney.

Morales MM, Carroll TP, Morita T, Schwiebert EM, Devuyst O, Wilson PD, Lopes AG, Stanton BA, Dietz HC, Cutting GR, Guggino WB. Morales MM, et al. Among authors: cutting gr. Am J Physiol. 1996 Jun;270(6 Pt 2):F1038-48. doi: 10.1152/ajprenal.1996.270.6.F1038. Am J Physiol. 1996. PMID: 8764323

7

Evidence for asthma susceptibility genes on chromosome 11 in an African-American population.

Huang SK, Mathias RA, Ehrlich E, Plunkett B, Liu X, Cutting GR, Wang XJ, Li XD, Togias A, Barnes KC, Malveaux F, Rich S, Mellen B, Lange E, Beaty TH; Comparative Study on the Genetics of Asthma. Huang SK, et al. Among authors: cutting gr. Hum Genet. 2003 Jul;113(1):71-5. doi: 10.1007/s00439-003-0934-4. Epub 2003 Mar 27. Hum Genet. 2003. PMID: 12664305

8

Problematic variation in local institutional review of a multicenter genetic epidemiology study.

McWilliams R, Hoover-Fong J, Hamosh A, Beck S, Beaty T, Cutting G. McWilliams R, et al. JAMA. 2003 Jul 16;290(3):360-6. doi: 10.1001/jama.290.3.360. JAMA. 2003. PMID: 12865377

9

Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis.

Groman JD, Karczeski B, Sheridan M, Robinson TE, Fallin MD, Cutting GR. Groman JD, et al. Among authors: cutting gr. J Pediatr. 2005 May;146(5):675-80. doi: 10.1016/j.jpeds.2004.12.020. J Pediatr. 2005. PMID: 15870673 Free PMC article.

10

Mutations in the beta-subunit of the epithelial Na+ channel in patients with a cystic fibrosis-like syndrome.

Sheridan MB, Fong P, Groman JD, Conrad C, Flume P, Diaz R, Harris C, Knowles M, Cutting GR. Sheridan MB, et al. Among authors: cutting gr. Hum Mol Genet. 2005 Nov 15;14(22):3493-8. doi: 10.1093/hmg/ddi374. Epub 2005 Oct 5. Hum Mol Genet. 2005. PMID: 16207733

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