Buller A - Search Results

1

Cystic fibrosis screening: lessons learned from the first 320,000 patients.

Strom CM, Crossley B, Redman JB, Buller A, Quan F, Peng M, McGinnis M, Sun W. Strom CM, et al. Among authors: buller a. Genet Med. 2004 May-Jun;6(3):136-40. doi: 10.1097/01.gim.0000127268.65149.69. Genet Med. 2004. PMID: 15354331

2

Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples.

Strom CM, Huang D, Buller A, Redman J, Crossley B, Anderson B, Entwistle T, Sun W. Strom CM, et al. Among authors: buller a. Genet Med. 2002 Jul-Aug;4(4):289-96. doi: 10.1097/00125817-200207000-00007. Genet Med. 2002. PMID: 12172395 Free article.

3

Extensive sequencing of the cystic fibrosis transmembrane regulator gene: assay validation and unexpected benefits of developing a comprehensive test.

Strom CM, Huang D, Chen C, Buller A, Peng M, Quan F, Redman J, Sun W. Strom CM, et al. Among authors: buller a. Genet Med. 2003 Jan-Feb;5(1):9-14. doi: 10.1097/00125817-200301000-00002. Genet Med. 2003. PMID: 12544470 Free article.

4

Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T.

Buller A, Olson S, Redman JB, Hantash F, Chen R, Strom CM. Buller A, et al. Genet Med. 2004 Mar-Apr;6(2):108-9. doi: 10.1097/01.gim.0000117332.18002.ff. Genet Med. 2004. PMID: 15017334 Free article.

5

Molecular screening for diseases frequent in Ashkenazi Jews: lessons learned from more than 100,000 tests performed in a commercial laboratory.

Strom CM, Crossley B, Redman JB, Quan F, Buller A, McGinniss MJ, Sun W. Strom CM, et al. Among authors: buller a. Genet Med. 2004 May-Jun;6(3):145-52. doi: 10.1097/01.gim.0000127267.57526.d1. Genet Med. 2004. PMID: 15354333

6

Detection of 677CT/1298AC "double variant" chromosomes: implications for interpretation of MTHFR genotyping results.

Brown NM, Pratt VM, Buller A, Pike-Buchanan L, Redman JB, Sun W, Chen R, Crossley B, McGinniss MJ, Quan F, Strom CM. Brown NM, et al. Among authors: buller a. Genet Med. 2005 Apr;7(4):278-82. doi: 10.1097/01.gim.0000159904.92850.d5. Genet Med. 2005. PMID: 15834246 Free article.

7

Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples.

McGinniss MJ, Chen C, Redman JB, Buller A, Quan F, Peng M, Giusti R, Hantash FM, Huang D, Sun W, Strom CM. McGinniss MJ, et al. Among authors: buller a. Hum Genet. 2005 Dec;118(3-4):331-8. doi: 10.1007/s00439-005-0065-1. Epub 2005 Sep 28. Hum Genet. 2005. PMID: 16189704

8

Technical validation of a multiplex platform to detect thirty mutations in eight genetic diseases prevalent in individuals of Ashkenazi Jewish descent.

Strom CM, Janeczko RA, Anderson B, Redman J, Quan F, Buller A, McGinniss MJ, Sun WM. Strom CM, et al. Among authors: buller a. Genet Med. 2005 Nov-Dec;7(9):633-9. doi: 10.1097/01.gim.0000187120.93597.16. Genet Med. 2005. PMID: 16301865 Free article.

9

Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.

Hantash FM, Redman JB, Starn K, Anderson B, Buller A, McGinniss MJ, Quan F, Peng M, Sun W, Strom CM. Hantash FM, et al. Among authors: buller a. Hum Genet. 2006 Mar;119(1-2):126-36. doi: 10.1007/s00439-005-0082-0. Epub 2005 Dec 17. Hum Genet. 2006. PMID: 16362824

10

CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype.

Sun W, Anderson B, Redman J, Milunsky A, Buller A, McGinniss MJ, Quan F, Anguiano A, Huang S, Hantash F, Strom C. Sun W, et al. Among authors: buller a. Genet Med. 2006 Jun;8(6):339-45. doi: 10.1097/01.gim.0000223549.57443.16. Genet Med. 2006. PMID: 16778595 Free article.

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