Rohlfs EM - Search Results

1

The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosis.

Rohlfs EM, Zhou Z, Sugarman EA, Heim RA, Pace RG, Knowles MR, Silverman LM, Allitto BA. Rohlfs EM, et al. Genet Med. 2002 Sep-Oct;4(5):319-23. doi: 10.1097/00125817-200209000-00001. Genet Med. 2002. PMID: 12394343 Free article.

2

CFTR mutation distribution among U.S. Hispanic and African American individuals: evaluation in cystic fibrosis patient and carrier screening populations.

Sugarman EA, Rohlfs EM, Silverman LM, Allitto BA. Sugarman EA, et al. Among authors: rohlfs em. Genet Med. 2004 Sep-Oct;6(5):392-9. doi: 10.1097/01.gim.0000139503.22088.66. Genet Med. 2004. PMID: 15371903 Free article.

3

Analysis of 3208 cystic fibrosis prenatal diagnoses: impact of carrier screening guidelines on distribution of indications for CFTR mutation and IVS-8 poly(T) analyses.

Rohlfs EM, Weinblatt VJ, Treat KJ, Sugarman EA. Rohlfs EM, et al. Genet Med. 2004 Sep-Oct;6(5):400-4. doi: 10.1097/01.gim.0000139504.05850.4b. Genet Med. 2004. PMID: 15371904

4

Cystic fibrosis carrier testing in an ethnically diverse US population.

Rohlfs EM, Zhou Z, Heim RA, Nagan N, Rosenblum LS, Flynn K, Scholl T, Akmaev VR, Sirko-Osadsa DA, Allitto BA, Sugarman EA. Rohlfs EM, et al. Clin Chem. 2011 Jun;57(6):841-8. doi: 10.1373/clinchem.2010.159285. Epub 2011 Apr 7. Clin Chem. 2011. PMID: 21474639

5

Simultaneous detection of multiple point mutations using allele-specific oligonucleotides.

Napolitano NM, Rohlfs EM, Heim RA. Napolitano NM, et al. Among authors: rohlfs em. Curr Protoc Hum Genet. 2004 Sep;Chapter 9:Unit9.4. doi: 10.1002/0471142905.hg0904s41. Curr Protoc Hum Genet. 2004. PMID: 18428368

6

Is the hemochromatosis gene a modifier locus for cystic fibrosis?

Rohlfs EM, Shaheen NJ, Silverman LM. Rohlfs EM, et al. Genet Test. 1998;2(1):85-8. doi: 10.1089/gte.1998.2.85. Genet Test. 1998. PMID: 10464603

7

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.

Sugarman EA, Nagan N, Zhu H, Akmaev VR, Zhou Z, Rohlfs EM, Flynn K, Hendrickson BC, Scholl T, Sirko-Osadsa DA, Allitto BA. Sugarman EA, et al. Among authors: rohlfs em. Eur J Hum Genet. 2012 Jan;20(1):27-32. doi: 10.1038/ejhg.2011.134. Epub 2011 Aug 3. Eur J Hum Genet. 2012. PMID: 21811307 Free PMC article.

8

Differences in SMN1 allele frequencies among ethnic groups within North America.

Hendrickson BC, Donohoe C, Akmaev VR, Sugarman EA, Labrousse P, Boguslavskiy L, Flynn K, Rohlfs EM, Walker A, Allitto B, Sears C, Scholl T. Hendrickson BC, et al. Among authors: rohlfs em. J Med Genet. 2009 Sep;46(9):641-4. doi: 10.1136/jmg.2009.066969. Epub 2009 Jul 21. J Med Genet. 2009. PMID: 19625283 Free PMC article.

9

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. Genet Med. 2005 Oct;7(8):534-49. doi: 10.1097/01.gim.0000183043.94406.81. Genet Med. 2005. PMID: 16247292 Free article.

10

HFE genotyping using multiplex allele-specific polymerase chain reaction and capillary electrophoresis.

Lubin IM, Yamada NA, Stansel RM, Pace RG, Rohlfs EM, Silverman LM. Lubin IM, et al. Among authors: rohlfs em. Arch Pathol Lab Med. 1999 Dec;123(12):1177-81. doi: 10.1043/1543-2165-123.20.1177. Arch Pathol Lab Med. 1999. PMID: 10583922 Free article.

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