Lebo RV - Search Results

1

Developing a sustainable process to provide quality control materials for genetic testing.

Chen B, O' Connell CD, Boone DJ, Amos JA, Beck JC, Chan MM, Farkas DH, Lebo RV, Richards CS, Roa BB, Silverman LM, Barton DE, Bejjani BA, Belloni DR, Bernacki SH, Caggana M, Charache P, Dequeker E, Ferreira-Gonzalez A, Friedman KJ, Greene CL, Grody WW, Highsmith WE Jr, Hinkel CS, Kalman LV, Lubin IM, Lyon E, Payne DA, Pratt VM, Rohlfs E, Rundell CA, Schneider E, Willey AM, Williams LO, Willey JC, Winn-Deen ES, Wolff DJ. Chen B, et al. Among authors: lebo rv. Genet Med. 2005 Oct;7(8):534-49. doi: 10.1097/01.gim.0000183043.94406.81. Genet Med. 2005. PMID: 16247292 Free article.

2

ACMG position statement on prenatal/preconception expanded carrier screening.

Grody WW, Thompson BH, Gregg AR, Bean LH, Monaghan KG, Schneider A, Lebo RV. Grody WW, et al. Among authors: lebo rv. Genet Med. 2013 Jun;15(6):482-3. doi: 10.1038/gim.2013.47. Epub 2013 Apr 25. Genet Med. 2013. PMID: 23619275 Free article.

3

Testing and reporting ACMG cystic fibrosis mutation panel results.

Lebo RV, Grody WW. Lebo RV, et al. Genet Test. 2007 Spring;11(1):11-31. doi: 10.1089/gte.2006.9996. Genet Test. 2007. PMID: 17394390

4

Variable penetrance and expressivity of the splice altering 5T sequence in the cystic fibrosis gene.

Lebo RV, Grody WW. Lebo RV, et al. Genet Test. 2007 Spring;11(1):32-44. doi: 10.1089/gte.2006.9997. Genet Test. 2007. PMID: 17394391

5

One multiplex control for 29 cystic fibrosis mutations.

Lebo RV, Bixler M, Galehouse D. Lebo RV, et al. Genet Test. 2007 Fall;11(3):256-68. doi: 10.1089/gte.2007.9994. Genet Test. 2007. PMID: 17949287

6

Targeted extended cystic fibrosis mutation testing on known and at-risk patients and relatives.

Lebo RV, Omlor GJ. Lebo RV, et al. Genet Test. 2007 Winter;11(4):427-44. doi: 10.1089/gte.2007.0050. Genet Test. 2007. PMID: 18294061

7

Analyzing the most frequent disease loci in targeted patient categories optimizes disease gene identification and test accuracy worldwide.

Lebo RV, Tonk VS. Lebo RV, et al. J Transl Med. 2015 Jan 21;13:16. doi: 10.1186/s12967-014-0333-8. J Transl Med. 2015. PMID: 25604770 Free PMC article.

8

Somatic mosaicism at the Duchenne locus.

Lebo RV, Olney RK, Golbus MS. Lebo RV, et al. Am J Med Genet. 1990 Oct;37(2):187-90. doi: 10.1002/ajmg.1320370206. Am J Med Genet. 1990. PMID: 1978985

9

Prenatal diagnosis with repetitive in situ hybridization probes.

Lebo RV, Flandermeyer RR, Diukman R, Lynch ED, Lepercq JA, Golbus MS. Lebo RV, et al. Am J Med Genet. 1992 Jul 15;43(5):848-54. doi: 10.1002/ajmg.1320430519. Am J Med Genet. 1992. PMID: 1642274

10

Prenatal in situ hybridization test for deleted steroid sulfatase gene.

Lebo RV, Lynch ED, Golbus MS, Flandermeyer RR, Yen PH, Shapiro LJ. Lebo RV, et al. Am J Med Genet. 1993 Jul 1;46(6):652-8. doi: 10.1002/ajmg.1320460610. Am J Med Genet. 1993. PMID: 8362907

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