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