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The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification

Chora, Joana R., Iacocca, Michael A., Tichý, Lukáš, Wand, Hannah, Kurtz, C. Lisa, Zimmermann, Heather, Leon, Annette, Williams, Maggie, Humphries, Steve E., Hooper, Amanda J., Trinder, Mark, Brunham, Liam R., Costa Pereira, Alexandre, Jannes, Cinthia E., Chen, Margaret, Chonis, Jessica, Wang, Jian, Kim, Serra, Johnston, Tami, Soucek, Premysl, Kramarek, Michal, Leigh, Sarah E., Carrié, Alain, Sijbrands, Eric J., Hegele, Robert A., Freiberger, Tomáš, Knowles, Joshua W., Bourbon, Mafalda·2022·Genetics in Medicine
DOI 10.1016/j.gim.2021.09.012PMC PMC12558601

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Research works printed but not linked: 37

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  24. Starr, 2008, Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing, Clin Chem Lab Med, 46, 791, 10.1515/CCLM.2008.135 · DOI
  25. Defesche, 2004, Advanced method for the identification of patients with inherited hypercholesterolemia, Semin Vasc Med, 4, 59, 10.1055/s-2004-822987 · DOI · Paper page
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  33. Ioannidis, 2016, REVEL: an ensemble method for predicting the pathogenicity of rare missense variants, Am J Hum Genet, 99, 877, 10.1016/j.ajhg.2016.08.016 · DOI · Paper page
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Metadata

Authors
Chora, J. R., Iacocca, M. A., Tichý, L., Wand, H., Kurtz, C. L., Zimmermann, H., Leon, A., Williams, M., Humphries, S. E., Hooper, A. J., Trinder, M., Brunham, L. R., Costa Pereira, A., Jannes, C. E., Chen, M., Chonis, J., Wang, J., Kim, S., Johnston, T., Soucek, P., Kramarek, M., Leigh, S. E., Carrié, A., Sijbrands, E. J., Hegele, R. A., Freiberger, T., Knowles, J. W., & Bourbon, M.
Venue
Genetics in Medicine
Publisher
Elsevier BV
Published
2022-02
Volume
24
Issue
2
Pages
293-306
ISSN
1098-3600
DOI
10.1016/j.gim.2021.09.012
PMC
PMC12558601
Cited by
163
References
4
Language
en
Licence

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