| Issue Date | Title | Author(s) | Type | Access Type |
| Jun-2018 | Adaptation of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemia | Iacocca, Michael A.; Chora, Joana R.; Freiberger, Tomas; Carrie, Alain; Leigh, Sarah E.; Kurtz, C. Lisa; Tichy, Lukas; DiStefano, Marina T.; Wand, Hannah; Defesche, Joep; Sijbrands, Eric J.; Hegele, Robert A; Knowles, Joshua W.; Bourbon, Mafalda; On behalf of the ClinGen FH Variant Curation Expert Panel | conferenceObject |  |
| Nov-2018 | ClinVar database of global familial hypercholesterolemia-associated DNA variants | Iacocca, Michael A.; Chora, Joana R.; Carrié, Alain; Freiberger, Tomáš; Leigh, Sarah E.; Defesche, Joep C.; Kurtz, C. Lisa; DiStefano, Marina T.; Santos, Raul D.; Humphries, Steve E.; Mata, Pedro; Jannes, Cinthia E.; Hooper, Amanda J.; Wilemon, Katherine A.; Benlian, Pascale; O'Connor, Robert; Garcia, John; Wand, Hannah; Tichy, Lukáš; Sijbrands, Eric J.; Hegele, Robert A.; Bourbon, Mafalda; Knowles, Joshua W.; on behalf of the ClinGen FH Variant Curation Expert Panel | article | |
| Oct-2018 | Familial hypercholesterolemiaassociated variants in ClinVar | Chora, Joana R.; Iacocca, Michael A.; Carrié, Alain; Freiberger, Tomáš; Leigh, Sarah E.; Defesche, Joep C.; Kurtz, C. Lisa; DiStefano, Marina T.; Santos, Raul D.; Humphries, Steve E.; Mata, Pedro; Jannes, Cinthia E.; Hooper, Amanda J.; Wilemon, Katherine A.; Benlian, Pascale; O'Connor, Robert; Garcia, John; Wand, Hannah; Tichý, Lukáš; Sijbrands, Eric J.; Hegele, Robert A.; Bourbon, Mafalda; Knowles, Joshua W.; On behalf of the ClinGen FH Variant Curation Expert Panel | conferenceObject |  |
| Apr-2019 | Genomics of familial hypercholesterolaemia | Alves, Ana C.; Chora, Joana R.; Bourbon, Mafalda | article | |
| May-2019 | Specification of ACMG AMP Guidelines for Variant Interpretation in Familial Hypercholesterolemia | Chora, Joana R.; Lacocca, Michael A.; Carrié, Alain; Leigh, Sarah E.; Tichý, Lukáš; Kurtz, C. Lisa; Freiberger, Tomas; Sijbrands, Eric J.; Hegele, Robert A.; Knowles, Joshua W.; Bourbon, Mafalda | conferenceObject | |
| Apr-2018 | Specification of ACMG/AMP variant classification guidelines for Familial Hypercholesterolemia – a ClinGen FH Variant Curation Committee Pilot Study | Kurtz, C. Lisa; Carrie, Alain; Chora, Joana R.; Iacocca, Michael; Leigh, Sarah; Freiberger, Tomas; Tichy, Lukas; Defesche, Joep; Hegele, Robert; Sijbrands, Eric; Knowles, Josh; Bourbon, Mafalda | conferenceObject | |
