Browsing by Author DiStefano, Marina T.
Showing results 1 to 2 of 2
| Issue Date | Title | Author(s) | Type | Access Type |
| 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 |  |
| Jun-2017 | Progress in ACMG/AMP-adapted guidelines for standardized variant curation in familial hypercholesterolemia | Iacocca, Michael A.; Chora, Joana; Rivera, E. Andy; DiStefano, Marina T.; Carrie, Alain; Sijbrands, Eric J.; Defesche, Joep; Freiberger, Tomas; Knowles, Joshua W.; Hegele, Robert A.; Bourbon, Mafalda | conferenceObject |  |
