| Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial … JR Chora, AM Medeiros, AC Alves, M Bourbon Genetics in Medicine 20 (6), 591-598, 2018 | 123 | 2018 |
| ClinVar database of global familial hypercholesterolemia‐associated DNA variants MA Iacocca, JR Chora, A Carrié, T Freiberger, SE Leigh, JC Defesche, ... Human mutation 39 (11), 1631-1640, 2018 | 108 | 2018 |
| The clinical genome resource (ClinGen) familial hypercholesterolemia variant curation expert panel consensus guidelines for LDLR variant classification JR Chora, MA Iacocca, L Tichý, H Wand, CL Kurtz, H Zimmermann, ... Genetics in Medicine 24 (2), 293-306, 2022 | 75 | 2022 |
| Lysosomal acid lipase deficiency: a hidden disease among cohorts of familial hypercholesterolemia? JR Chora, AC Alves, AM Medeiros, C Mariano, G Lobarinhas, A Guerra, ... Journal of clinical lipidology 11 (2), 477-484. e2, 2017 | 58 | 2017 |
| The familial hypercholesterolaemia phenotype: monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes C Mariano, AC Alves, AM Medeiros, JR Chora, M Antunes, M Futema, ... Clinical genetics 97 (3), 457-466, 2020 | 24 | 2020 |
| Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients TD Matos, H Simoes-Teixeira, H Caria, AC Goncalves, J Chora, ... International journal of audiology 52 (7), 466-471, 2013 | 24 | 2013 |
| ClinGen Familial Hypercholesterolemia Expert Panel. The Clinical Genome Resource (ClinGen) familial hypercholesterolemia variant curation expert panel consensus guidelines for … JR Chora, MA Iacocca, L Tichý, H Wand, CL Kurtz, H Zimmermann, ... Genet Med 24 (2), 293-306, 2022 | 16 | 2022 |
| Contemporary homozygous familial hypercholesterolemia in the United States: insights from the CASCADE FH registry M Cuchel, PC Lee, LC Hudgins, PB Duell, Z Ahmad, SJ Baum, ... Journal of the American Heart Association 12 (9), e029175, 2023 | 15 | 2023 |
| ClinGen FH Variant Curation Expert Panel MA Iacocca, JR Chora, A Carrié, T Freiberger, SE Leigh, JC Defesche, ... ClinVar database of global familial hypercholesterolemia-associated DNA …, 2018 | 7 | 2018 |
| The FH phenotype: monogenic familial hypercholesterolaemia, polygenic dyslipidaemia and other causes C Mariano, AM Medeiros, AC Alves, JR Chora, M Futema, SE Humphries, ... Palestras do DPSPDNT, INSA, 26 janeiro 2018, 2018 | 6 | 2018 |
| A novel p. Leu213X mutation in GJB2 gene in a Portuguese family AC Gonçalves, J Chora, TD Matos, R Santos, A O’Neill, P Escada, ... International Journal of Pediatric Otorhinolaryngology 77 (1), 89-91, 2013 | 5 | 2013 |
| Genomics of familial hypercholesterolaemia AC Alves, JR Chora, M Bourbon Current Opinion in Lipidology 30 (2), 148-150, 2019 | 4 | 2019 |
| Pharmacogenomics of statins and familial hypercholesterolemia JR Chora, M Bourbon Current Opinion in Lipidology 32 (2), 96-102, 2021 | 3 | 2021 |
| Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype AM Medeiros, AC Alves, B Miranda, JR Chora, M Bourbon, Q Rato, ... Journal of Lipid Research 65 (2), 2024 | 2 | 2024 |
| Adaptation of ACMG/AMP guidelines for standardized variant interpretation in familial hypercholesterolemia MA Iacocca, JR Chora, T Freiberger, A Carrie, SE Leigh, CL Kurtz, L Tichy, ... XVIII International Symposium on Atherosclerosis, 9-12 june 2018, 2018 | 2 | 2018 |
| Farmacogenética de fármacos antidislipidémicos JR Chora, M Bourbon Instituto Nacional de Saúde Doutor Ricardo Jorge, IP 6 (Supl 9), 19-23, 2017 | 2 | 2017 |
| Two Portuguese cochlear implanted dizygotic twins: A case report JR Chora, H Simoes-Teixeira, TD Matos, JH Martins, M Alves, R Ferreira, ... Case Reports in Genetics 2012, 2012 | 2 | 2012 |
| Generation and validation of a classification model to diagnose familial hypercholesterolaemia in adults J Albuquerque, AM Medeiros, AC Alves, CE Jannes, RM Mancina, ... Atherosclerosis 383, 117314, 2023 | 1 | 2023 |
| Familial hypercholesterolemia JR Chora, AM Medeiros, AC Alves, M Bourbon Clinical DNA Variant Interpretation, 323-348, 2021 | 1 | 2021 |
| Adaptation of ACMG/AMP guidelines for variant interpretation in familial hypercholesterolemia-A clingen fh expert panel pilot study JR Chora, MA Iacocca, A Carrie, L Tichy, SE Leigh, MT DiStefano, ... Atherosclerosis 275, e98, 2018 | 1 | 2018 |
