Eric J. Sijbrands
AuthID: R-00H-6PT
1
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; ...More
PUBLISHED: 2022, SOURCE: GENETICS IN MEDICINE, VOLUME: 24, ISSUE: 2
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; ...More
PUBLISHED: 2022, SOURCE: GENETICS IN MEDICINE, VOLUME: 24, ISSUE: 2
INDEXED IN: 
WOS
WOS2
TITLE: Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action
AUTHORS: Katherine A Wilemon; Jasmine Patel; Carlos Aguilar Salinas; Catherine D Ahmed; Mutaz Alkhnifsawi; Wael Almahmeed; Rodrigo Alonso; Khalid Al Rasadi; Lina Badimon; Luz M Bernal; Martin P Bogsrud; Lynne T Braun; Liam Brunham; Alberico L Catapano; Kristyna Cillikova; Pablo Corral; Regina Cuevas; Joep C Defesche; Olivier S Descamps; Sarah de Ferranti; ...More
PUBLISHED: 2020, SOURCE: JAMA CARDIOLOGY, VOLUME: 5, ISSUE: 2
AUTHORS: Katherine A Wilemon; Jasmine Patel; Carlos Aguilar Salinas; Catherine D Ahmed; Mutaz Alkhnifsawi; Wael Almahmeed; Rodrigo Alonso; Khalid Al Rasadi; Lina Badimon; Luz M Bernal; Martin P Bogsrud; Lynne T Braun; Liam Brunham; Alberico L Catapano; Kristyna Cillikova; Pablo Corral; Regina Cuevas; Joep C Defesche; Olivier S Descamps; Sarah de Ferranti; ...More
PUBLISHED: 2020, SOURCE: JAMA CARDIOLOGY, VOLUME: 5, ISSUE: 2
INDEXED IN: 
Scopus WOS
Scopus WOS3
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
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
WOS4
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; ...More
PUBLISHED: 2018, SOURCE: HUMAN MUTATION, VOLUME: 39, ISSUE: 11
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; ...More
PUBLISHED: 2018, SOURCE: HUMAN MUTATION, VOLUME: 39, ISSUE: 11
INDEXED IN: Scopus WOS
Scopus WOS5
TITLE: Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia
AUTHORS: Mafalda Bourbon; Ana C Alves; Eric J Sijbrands;
PUBLISHED: 2017, SOURCE: CURRENT OPINION IN LIPIDOLOGY, VOLUME: 28, ISSUE: 2
AUTHORS: Mafalda Bourbon; Ana C Alves; Eric J Sijbrands;
PUBLISHED: 2017, SOURCE: CURRENT OPINION IN LIPIDOLOGY, VOLUME: 28, ISSUE: 2
INDEXED IN: WOS
WOS