The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
Chora, Joana R., Iacocca, Michael A., Tichý, Lukáš, Wand, Hannah, Kurtz, C. Lisa, Zimmermann, Heather, Leon, Annette, Williams, Maggie, Humphries, Steve E., Hooper, Amanda J., Trinder, Mark, Brunham, Liam R., Costa Pereira, Alexandre, Jannes, Cinthia E., Chen, Margaret, Chonis, Jessica, Wang, Jian, Kim, Serra, Johnston, Tami, Soucek, Premysl, Kramarek, Michal, Leigh, Sarah E., Carrié, Alain, Sijbrands, Eric J., Hegele, Robert A., Freiberger, Tomáš, Knowles, Joshua W., Bourbon, Mafalda
Published in Genetics in medicine (01.02.2022)
Published in Genetics in medicine (01.02.2022)
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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.
Published in Human mutation (01.11.2018)
Published in Human mutation (01.11.2018)
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Genomics of familial hypercholesterolaemia
Alves, Ana C, Chora, Joana R, Bourbon, Mafalda
Published in Current opinion in lipidology (01.04.2019)
Published in Current opinion in lipidology (01.04.2019)
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Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?
Stevens, Christophe A T, Vallejo-Vaz, Antonio J, Chora, Joana R, Barkas, Fotis, Brandts, Julia, Mahani, Alireza, Abar, Leila, Sharabiani, Mansour T A, Ray, Kausik K
Published in Journal of the American Heart Association (18.06.2024)
Published in Journal of the American Heart Association (18.06.2024)
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Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry
Cuchel, Marina, Lee, Paul C, Hudgins, Lisa C, Duell, P Barton, Ahmad, Zahid, Baum, Seth J, Linton, MacRae F, de Ferranti, Sarah D, Ballantyne, Christie M, Larry, John A, Hemphill, Linda C, Kindt, Iris, Gidding, Samuel S, Martin, Seth S, Moriarty, Patrick M, Thompson, Paul P, Underberg, James A, Guyton, John R, Andersen, Rolf L, Whellan, David J, Benuck, Irwin, Kane, John P, Myers, Kelly, Howard, William, Staszak, David, Jamison, Allison, Card, Mary C, Bourbon, Mafalda, Chora, Joana R, Rader, Daniel J, Knowles, Joshua W, Wilemon, Katherine, McGowan, Mary P
Published in Journal of the American Heart Association (02.05.2023)
Published in Journal of the American Heart Association (02.05.2023)
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Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?
Chora, Joana Rita, MSc, Alves, Ana Catarina, PhD, Medeiros, Ana Margarida, MSc, Mariano, Cibelle, MSc, Lobarinhas, Goreti, MD, PhD, Guerra, António, MD, PhD, Mansilha, Helena, MD, PhD, Cortez-Pinto, Helena, MD, PhD, Bourbon, Mafalda, PhD
Published in Journal of clinical lipidology (01.03.2017)
Published in Journal of clinical lipidology (01.03.2017)
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The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes
Mariano, Cibelle, Alves, Ana Catarina, Medeiros, Ana Margarida, Chora, Joana Rita, Antunes, Marília, Futema, Marta, Humphries, Steve E., Bourbon, Mafalda
Published in Clinical genetics (01.03.2020)
Published in Clinical genetics (01.03.2020)
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Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing
Latkovskis, Gustavs, Rescenko-Krums, Raimonds, Nesterovics, Georgijs, Briviba, Monta, Saripo, Vita, Gilis, Dainus, Terauda, Elizabete, Meiere, Ruta, Skudrina, Gunda, Erglis, Andrejs, Chora, Joana Rita, Bourbon, Mafalda, Klovins, Janis
Published in Journal of clinical medicine (01.08.2023)
Published in Journal of clinical medicine (01.08.2023)
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DFNB1-associated deafness in Portuguese cochlear implant users: Prevalence and impact on oral outcome
Chora, Joana Rita Gaspar de Barros Martinho, Matos, Tiago Daniel Morim, Martins, Jorge Humberto Ferreira, Alves, Marisa Costa, Andrade, Susana Margarida Sousa, Silva, Luis Filipe dos Santos, Ribeiro, Carlos Alberto dos Reis, Antunes, Marília Cristina de Sousa, Fialho, Maria Graça Monteiro Azevedo, Caria, Maria Helena de Figueiredo Ramos
Published in International journal of pediatric otorhinolaryngology (01.10.2010)
Published in International journal of pediatric otorhinolaryngology (01.10.2010)
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Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis
Chora, Joana Rita, Medeiros, Ana Margarida, Alves, Ana Catarina, Bourbon, Mafalda
Published in Genetics in medicine (01.06.2018)
Published in Genetics in medicine (01.06.2018)
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E_Lipid –Characterisation of the lipid profile of the Portuguese population
Chora, Joana, Alves, Ana Catarina, Mariano, Cibelle, Rato, Quitéria, Antunes, Marília, Bourbon, Mafalda
Published in Atherosclerosis (01.08.2024)
Published in Atherosclerosis (01.08.2024)
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To correct or not to correct (for treatment): Estimating pre-treatment LDL-C concentrations in genetically characterized patients with familial hypercholesterolaemia on lipid-lowering medication
Stevens, Christophe, Elshorbagy, Amany, Vallejo-Vaz, Antonio, Dharmayat, Kanika, Lyons, Alexander, Bourbon, Mafalda, Chora, Joana, Humphries, Steve, Catapano, Alberico, Hovingh, G., Mata, Pedro, Santos, Raul, Soran, Handrean, Watts, Gerald, Raal, Frederick J., Freiberger, Tomas, Ray, Kausik
Published in Atherosclerosis (01.08.2024)
Published in Atherosclerosis (01.08.2024)
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Spectrum of gene variants in children and adults with heterozygous familial hypercholesterolaemia (FH) across world regions: A study by the EAS-FH Studies Collaboration (FHSC)
Elshorbagy, Amany, Stevens, Christophe, Vallejo-Vaz, Antonio, Dharmayat, Kanika, Lyons, Alexander, Bourbon, Mafalda, Chora, Joana, Humphries, Steve, Catapano, Alberico, Hovingh, G., Mata, Pedro, Santos, Raul, Soran, Handrean, Watts, Gerald, Raal, Frederick J., Freiberger, Tomas, Ray, Kausik
Published in Atherosclerosis (01.08.2024)
Published in Atherosclerosis (01.08.2024)
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Advancements in risk stratification and management strategies in primary cardiovascular prevention
Barkas, Fotios, Sener, Yusuf Ziya, Golforoush, Pelin Arabacilar, Kheirkhah, Azin, Rodriguez-Sanchez, Elena, Novak, Jan, Apellaniz-Ruiz, Maria, Akyea, Ralph Kwame, Bianconi, Vanessa, Ceasovschih, Alexandr, Chee, Ying Jie, Cherska, Mariia, Chora, Joana Rita, D'Oria, Mario, Demikhova, Nadiia, Kocyigit Burunkaya, Duygu, Rimbert, Antoine, Macchi, Chiara, Rathod, Krishnaraj, Roth, Lynn, Sukhorukov, Vasily, Stoica, Svetlana, Scicali, Roberto, Storozhenko, Tatyana, Uzokov, Jamol, Lupo, Maria Giovanna, van der Vorst, Emiel P.C., Porsch, Florentina
Published in Atherosclerosis (01.08.2024)
Published in Atherosclerosis (01.08.2024)
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Generation and validation of a classification model to diagnose familial hypercholesterolaemia in adults
Albuquerque, João, Medeiros, Ana Margarida, Alves, Ana Catarina, Jannes, Cinthia Elim, Mancina, Rosellina M., Pavanello, Chiara, Chora, Joana Rita, Mombelli, Giuliana, Calabresi, Laura, Pereira, Alexandre da Costa, Krieger, José Eduardo, Romeo, Stefano, Bourbon, Mafalda, Antunes, Marília
Published in Atherosclerosis (01.10.2023)
Published in Atherosclerosis (01.10.2023)
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Systematic review of LDLR mutations associated to familial hypercholesterolaemia – evidence of functional studies and application of acmg guidelines for FH diagnosis
Chora, Joana Rita, Alves, Ana Catarina, Medeiros, Ana Margarida, Bourbon, Mafalda
Published in Atherosclerosis (01.08.2017)
Published in Atherosclerosis (01.08.2017)
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Journal Article
Two Portuguese Cochlear Implanted Dizygotic Twins : A Case Report
Chora, Joana Rita, Simões-Teixeira, Helena, Matos, Tiago Daniel, Martins, Jorge Humberto, Alves, Marisa, Ferreira, Raquel, Silva, Luís, Ribeiro, Carlos, Fialho, Graça, Caria, Helena
Published in Case reports in genetics (01.01.2012)
Published in Case reports in genetics (01.01.2012)
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Journal Article
ClinVar database of global familial hypercholesterolemia‐associated DNA variants
Iacocca, Michael, Chora, Joana, Carrié, Alain, Freiberger, Tomáš, Leigh, Sarah, Defesche, Joep, Kurtz, C. Lisa, Distefano, Marina, Santos, Raul, Humphries, Steve, Mata, Pedro, Jannes, Cinthia, Hooper, Amanda, Wilemon, Katherine, Benlian, Pascale, O'Connor, Robert, Garcia, John, Wand, Hannah, Tichy, Lukáš, Sijbrands, Eric, Hegele, Robert, Bourbon, Mafalda, Knowles, Joshua
Published in Human mutation (11.10.2018)
Published in Human mutation (11.10.2018)
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Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients
Matos, Tiago Daniel, Simões-Teixeira, Helena, Caria, Helena, Gonçalves, Ana Cláudia, Chora, Joana, Correia, Maria do Céu, Moura, Carla, Rosa, Helena, Monteiro, Luísa, O'Neill, Assunção, Dias, Óscar, Andrea, Mário, Fialho, Graça
Published in International journal of audiology (01.07.2013)
Published in International journal of audiology (01.07.2013)
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