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Publication details

Document type
Journal articles

Document subtype
Full paper

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

Participants in the publication
Joana R. Chora (Author)
FACULDADE DE CIÊNCIAS DA UNIVERSIDADE DE LISBOA
 BioISI - Biosystems & Integrative Sciences Institute
 Michael A. Iacocca (Author)
Lukáš Tichý (Author)
Hannah Wand (Author)
C. Lisa Kurtz (Author)
Heather Zimmermann (Author)
Annette Leon (Author)
Maggie Williams (Author)
Steve E. Humphries (Author)
Amanda J. Hooper (Author)
Mark Trinder (Author)
Liam R. Brunham (Author)
Alexandre Costa Pereira (Author)
Cinthia E. Jannes (Author)
Margaret Chen (Author)
Jessica Chonis (Author)
Jian Wang (Author)
Serra Kim (Author)
Tami Johnston (Author)
Premysl Soucek (Author)
Michal Kramarek (Author)
Sarah E. Leigh (Author)
Alain Carrié (Author)
Eric J. Sijbrands (Author)
Robert A. Hegele (Author)
Tomáš Freiberger (Author)
Joshua W. Knowles (Author)
Mafalda Bourbon (Author)
BioISI - Biosystems & Integrative Sciences Institute
 Dep. Química e Bioquímica
Date of Publication
2022-02

Where published
Genetics in Medicine

Publication Identifiers
ISSN - 1098-3600

Publisher
Elsevier BV

Volume
24
Number
2

Number of pages
14
Starting page
293
Last page
306

Document Identifiers
DOI - https://doi.org/10.1016/j.gim.2021.09.012
URL - https://doi.org/10.1016/j.gim.2021.09.012

Rankings
SCIMAGO Q1 (2021) - 2877 - Genetics (clinical)
Web Of Science Q1 (2021) - 8.864 - GENETICS & HEREDITY - SCIE
SCOPUS Q1 (2021) - 13.8 - Genetics (clinical)


Export

APA
Joana R. Chora, Michael A. Iacocca, Lukáš Tichý, Hannah Wand, C. Lisa Kurtz, Heather Zimmermann, Annette Leon, Maggie Williams, Steve E. Humphries, Amanda J. Hooper, Mark Trinder, Liam R. Brunham, Alexandre Costa Pereira, Cinthia E. Jannes, Margaret Chen, Jessica Chonis, Jian Wang, Serra Kim, Tami Johnston, Premysl Soucek, Michal Kramarek, Sarah E. Leigh, Alain Carrié, Eric J. Sijbrands, Robert A. Hegele, Tomáš Freiberger, Joshua W. Knowles, Mafalda Bourbon, (2022). The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification. Genetics in Medicine, 24, 293-306. ISSN 1098-3600. eISSN . https://doi.org/10.1016/j.gim.2021.09.012

IEEE
Joana R. Chora, Michael A. Iacocca, Lukáš Tichý, Hannah Wand, C. Lisa Kurtz, Heather Zimmermann, Annette Leon, Maggie Williams, Steve E. Humphries, Amanda J. Hooper, Mark Trinder, Liam R. Brunham, Alexandre Costa Pereira, Cinthia E. Jannes, Margaret Chen, Jessica Chonis, Jian Wang, Serra Kim, Tami Johnston, Premysl Soucek, Michal Kramarek, Sarah E. Leigh, Alain Carrié, Eric J. Sijbrands, Robert A. Hegele, Tomáš Freiberger, Joshua W. Knowles, Mafalda Bourbon, "The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification" in Genetics in Medicine, vol. 24, pp. 293-306, 2022. 10.1016/j.gim.2021.09.012

BIBTEX
@article{62830, author = {Joana R. Chora and Michael A. Iacocca and Lukáš Tichý and Hannah Wand and C. Lisa Kurtz and Heather Zimmermann and Annette Leon and Maggie Williams and Steve E. Humphries and Amanda J. Hooper and Mark Trinder and Liam R. Brunham and Alexandre Costa Pereira and Cinthia E. Jannes and Margaret Chen and Jessica Chonis and Jian Wang and Serra Kim and Tami Johnston and Premysl Soucek and Michal Kramarek and Sarah E. Leigh and Alain Carrié and Eric J. Sijbrands and Robert A. Hegele and Tomáš Freiberger and Joshua W. Knowles and Mafalda Bourbon}, title = {The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification}, journal = {Genetics in Medicine}, year = 2022, pages = {293-306}, volume = 24 }