ProfileOfResearchers

TITLE: The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
AUTHORS: Chora, Joana R.; Iacocca, Michael A.; Tichy, Lukas; Wand, Hannah; Kurtz, C. Lisa; Zimmermann, Heather; Leon, Annette; Williams, Maggie; Humphries, Steve E.; Hooper, Amanda J.; Trinder, Mark; Brunham, Liam R.; Pereira, Alexandre Costa; Jannes, Cinthia E.; Chen, Margaret; Chonis, Jessica; Wang, Jian; Kim, Serra; Johnston, Tami; Soucek, Premysl; Kramarek, Michal; Leigh, Sarah E.; Carrie, Alain; Sijbrands, Eric J.; Hegele, Robert A.; Freiberger, Tomas; Knowles, Joshua W.; Bourbon, Mafalda; ...More
PUBLISHED: 2022, SOURCE: GENETICS IN MEDICINE, VOLUME: 24, ISSUE: 2

INDEXED IN:

WOS

TITLE: CLINVAR LDLR VARIANT CLASSIFICATION VS FH VCEP LDLR SPECIFICATIONS Full Text
AUTHORS: Chora, Joana; Tichy, Lukas; Iacocca, Michael; Alves, Ana Catarina; Medeiros, Ana Margarida; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30

INDEXED IN:

WOS

TITLE: SPECIFICATION OF ACMG/AMP GUIDELINES FOR VARIANT INTERPRETATION IN FAMILIAL HYPERCHOLESTEROLEMIA Full Text
AUTHORS: Chora, JR; Iacocca, MA; Carrie, A; Leigh, SE; Tichy, L; Kurtz, CL; Freiberger, T; Sijbrands, EJ; Hegele, RA; Knowles, JW; Bourbon, M;
PUBLISHED: 2019, SOURCE: 87th Congress of the European-Atherosclerosis-Society (EAS) in ATHEROSCLEROSIS, VOLUME: 287

INDEXED IN:

WOS

TITLE: ClinVar database of global familial hypercholesterolemia-associated DNA variants Full Text
AUTHORS: Michael A Iacocca; Joana R Chora; Alain Carrie; Tomas Freiberger; Sarah E Leigh; Joep C Defesche; Lisa L Kurtz; Marina T DiStefano; Raul D Santos; Steve E Humphries; Pedro Mata; Cinthia E Jannes; Amanda J Hooper; Katherine A Wilemon; Pascale Benlian; Robert O'Connor; John Garcia; Hannah Wand; Lukas Tichy; Eric J Sijbrands; Robert A Hegele; Mafalda Bourbon; Joshua W Knowles; ...More
PUBLISHED: 2018, SOURCE: HUMAN MUTATION, VOLUME: 39, ISSUE: 11

INDEXED IN:

Scopus

WOS

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