Heim RA - Search Results

1

A customized scaffolds approach for the detection and phasing of complex variants by next-generation sequencing.

Zeng Q, Leach NT, Zhou Z, Zhu H, Smith JA, Rosenblum LS, Kenyon A, Heim RA, Eisenberg M, Letovsky S, Okamoto PM. Zeng Q, et al. Among authors: heim ra. Sci Rep. 2020 Sep 14;10(1):15060. doi: 10.1038/s41598-020-71471-3. Sci Rep. 2020. PMID: 32929119 Free PMC article.

2

Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions.

Leach NT, Wilson Mathews DR, Rosenblum LS, Zhou Z, Zhu H, Heim RA. Leach NT, et al. Among authors: heim ra. Genet Med. 2019 Feb;21(2):417-425. doi: 10.1038/s41436-018-0062-0. Epub 2018 Jun 15. Genet Med. 2019. PMID: 29907801 Free article.

3

Comparison of pan-ethnic and ethnic-based carrier screening panels for individuals of Ashkenazi Jewish descent.

Rosenblum LS, Zhu H, Zhou Z, Teicher J, Heim RA, Leach NT. Rosenblum LS, et al. Among authors: heim ra. J Genet Couns. 2020 Feb;29(1):56-66. doi: 10.1002/jgc4.1180. Epub 2019 Oct 30. J Genet Couns. 2020. PMID: 31663226

4

Correction: Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions.

Leach NT, Wilson Mathews DR, Rosenblum LS, Zhou Z, Zhu H, Heim RA. Leach NT, et al. Among authors: heim ra. Genet Med. 2019 Jul;21(7):1670. doi: 10.1038/s41436-018-0128-z. Genet Med. 2019. PMID: 30050098 Free article.

5

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. Among authors: heim ra. Clin Chem. 2011 Jun;57(6):841-8. doi: 10.1373/clinchem.2010.159285. Epub 2011 Apr 7. Clin Chem. 2011. PMID: 21474639

6

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. Among authors: heim ra. Genet Med. 2002 Sep-Oct;4(5):319-23. doi: 10.1097/00125817-200209000-00001. Genet Med. 2002. PMID: 12394343 Free article.

7

A Role for Chromosomal Microarray Testing in the Workup of Male Infertility.

McIntyre KJ, Murphy E, Mertens L, Dubuc AM, Heim RA, Mason-Suares H. McIntyre KJ, et al. Among authors: heim ra. J Mol Diagn. 2020 Sep;22(9):1189-1198. doi: 10.1016/j.jmoldx.2020.06.009. Epub 2020 Jun 29. J Mol Diagn. 2020. PMID: 32615168 Free article.

8

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

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

9

High allelic heterogeneity between Afro-Brazilians and Euro-Brazilians impacts cystic fibrosis genetic testing.

Raskin S, Pereira L, Reis F, Rosario NA, Ludwig N, Valentim L, Phillips JA 3rd, Allito B, Heim RA, Sugarman EA, Probst CM, Faucz F, Culpi L. Raskin S, et al. Among authors: heim ra. Genet Test. 2003 Fall;7(3):213-8. doi: 10.1089/109065703322537223. Genet Test. 2003. PMID: 14641997

10

Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using an expanded, pan-ethnic mutation panel.

Heim RA, Sugarman EA, Allitto BA. Heim RA, et al. Genet Med. 2001 May-Jun;3(3):168-76. doi: 10.1097/00125817-200105000-00004. Genet Med. 2001. PMID: 11388756 Free article.

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