Rosenblum LS - Search Results

1

Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk: Laboratory Experience and Considerations.

Rosenblum LS, Auger SM, Zhu H, Zhou Z, Xin W, Reiner J, Wolf Z, Leach NT. Rosenblum LS, et al. J Mol Diagn. 2024 Mar;26(3):202-212. doi: 10.1016/j.jmoldx.2023.12.002. Epub 2024 Jan 1. J Mol Diagn. 2024. PMID: 38171482 Free article.

2

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. J Genet Couns. 2020 Feb;29(1):56-66. doi: 10.1002/jgc4.1180. Epub 2019 Oct 30. J Genet Couns. 2020. PMID: 31663226

3

Incidental molecular diagnoses and heterozygous risk alleles in a carrier screening cohort.

Reiner J, Rosenblum LS, Xin W, Zhou Z, Zhu H, Leach N. Reiner J, et al. Among authors: rosenblum ls. Genet Med. 2023 Feb;25(2):100317. doi: 10.1016/j.gim.2022.10.001. Epub 2022 Dec 1. Genet Med. 2023. PMID: 36459106 Free article.

4

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: rosenblum ls. 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.

5

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: rosenblum ls. Sci Rep. 2020 Sep 14;10(1):15060. doi: 10.1038/s41598-020-71471-3. Sci Rep. 2020. PMID: 32929119 Free PMC article.

6

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: rosenblum ls. Genet Med. 2019 Jul;21(7):1670. doi: 10.1038/s41436-018-0128-z. Genet Med. 2019. PMID: 30050098 Free article.

7

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

8

Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.

Goldstein JL, McGlaughon J, Kanavy D, Goomber S, Pan Y, Deml B, Donti T, Kearns L, Seifert BA, Schachter M, Son RG, Thaxton C, Udani R, Bali D, Baudet H, Caggana M, Hung C, Kyriakopoulou L, Rosenblum L, Steiner R, Pinto E Vairo F, Wang Y, Watson M, Fernandez R, Weaver M, Clarke L, Rehder C. Goldstein JL, et al. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107715. doi: 10.1016/j.ymgme.2023.107715. Epub 2023 Oct 26. Mol Genet Metab. 2023. PMID: 37907381

9

Added epidemiologic value to tuberculosis prevention and control of the investigation of clustered genotypes of Mycobacterium tuberculosis isolates.

McNabb SJ, Kammerer JS, Hickey AC, Braden CR, Shang N, Rosenblum LS, Navin TR. McNabb SJ, et al. Among authors: rosenblum ls. Am J Epidemiol. 2004 Sep 15;160(6):589-97. doi: 10.1093/aje/kwh253. Am J Epidemiol. 2004. PMID: 15353420

10

Molecular epidemiology of tuberculosis.

Rosenblum LS, Navin TR, Crawford JT. Rosenblum LS, et al. N Engl J Med. 2003 Dec 11;349(24):2364. doi: 10.1056/NEJM200312113492421. N Engl J Med. 2003. PMID: 14668469 No abstract available.

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