Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Breckpot, J"'
Autor:
Robyns T; Department of Cardiovascular Diseases, University Hospitals Leuven, Leuven, Belgium.; Department of Cardiovascular Sciences, University of Leuven, Leuven, Belgium., Willems R; Department of Cardiovascular Diseases, University Hospitals Leuven, Leuven, Belgium.; Department of Cardiovascular Sciences, University of Leuven, Leuven, Belgium., Van Cleemput J; Department of Cardiovascular Diseases, University Hospitals Leuven, Leuven, Belgium.; Department of Cardiovascular Sciences, University of Leuven, Leuven, Belgium., Jhangiani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Muzny D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Gibbs R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Breckpot J; Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium., Devriendt K; Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium., Corveleyn A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Publikováno v:
Acta cardiologica [Acta Cardiol] 2020 Dec; Vol. 75 (8), pp. 748-753. Date of Electronic Publication: 2019 Oct 04.
Autor:
Winters L; Department of Pediatrics, University Hospitals Leuven, Catholic University Leuven, Leuven, Belgium., Van Hoof E; Center for Human Genetics, University Hospitals Leuven, Catholic University Leuven, Leuven, Belgium., De Catte L; Division of Woman and Child, Clinical Department of Obstetrics and Gynecology, Fetal Medicine Unit, University Hospitals Leuven, Leuven, Belgium., Van Den Bogaert K; Center for Human Genetics, University Hospitals Leuven, Catholic University Leuven, Leuven, Belgium., de Ravel T; Center for Human Genetics, University Hospitals Leuven, Catholic University Leuven, Leuven, Belgium., De Waele L; Department of Pediatric Neurology, University Hospitals Leuven, Leuven, Belgium., Corveleyn A; Center for Human Genetics, University Hospitals Leuven, Catholic University Leuven, Leuven, Belgium., Breckpot J; Center for Human Genetics, University Hospitals Leuven, Catholic University Leuven, Leuven, Belgium. Electronic address: Jeroen.Breckpot@uzleuven.be.
Publikováno v:
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2017 Sep; Vol. 21 (5), pp. 745-753. Date of Electronic Publication: 2017 Apr 26.
Autor:
Sifrim A; Wellcome Trust Sanger Institute, Cambridge, UK., Hitz MP; Wellcome Trust Sanger Institute, Cambridge, UK.; Department of Congenital Heart Disease and Pediatric Cardiology, Universitätsklinikum Schleswig-Holstein Kiel, Kiel, Germany.; German Center for Cardiovascular Research (DZHK), Berlin, Germany., Wilsdon A; School of Life Sciences, University of Nottingham, Queen's Medical Centre, Nottingham, UK., Breckpot J; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Turki SH; Wellcome Trust Sanger Institute, Cambridge, UK.; Department of Pathology, King Abdulaziz Medical City, Riyadh, Saudi Arabia.; Genetics Training Program, Harvard Medical School, Boston, Massachusetts, USA., Thienpont B; Vesalius Research Center, VIB, Leuven, Belgium.; Laboratory for Translational Genetics, Department of Oncology, KU Leuven, Leuven, Belgium., McRae J; Wellcome Trust Sanger Institute, Cambridge, UK., Fitzgerald TW; Wellcome Trust Sanger Institute, Cambridge, UK., Singh T; Wellcome Trust Sanger Institute, Cambridge, UK., Swaminathan GJ; Wellcome Trust Sanger Institute, Cambridge, UK., Prigmore E; Wellcome Trust Sanger Institute, Cambridge, UK., Rajan D; Wellcome Trust Sanger Institute, Cambridge, UK., Abdul-Khaliq H; Department of Pediatric Cardiology, Saarland University, Homburg, Germany.; Competence Network for Congenital Heart Defects, National Register for Congenital Heart Defects, DZHK, Berlin, Germany., Banka S; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK., Bauer UM; Competence Network for Congenital Heart Defects, National Register for Congenital Heart Defects, DZHK, Berlin, Germany., Bentham J; Department of Paediatric Cardiology, Yorkshire Heart Centre, Leeds, UK., Berger F; German Center for Cardiovascular Research (DZHK), Berlin, Germany.; Competence Network for Congenital Heart Defects, National Register for Congenital Heart Defects, DZHK, Berlin, Germany.; Department of Congenital Heart Disease and Pediatric Cardiology, German Heart Institute Berlin, Charité Universitätsmedizin Berlin, Berlin, Germany., Bhattacharya S; Department of Cardiovascular Medicine, University of Oxford, Oxford, UK., Bu'Lock F; East Midlands Congenital Heart Centre, Glenfield Hospital, Leicester, UK., Canham N; North West Thames Regional Genetics Centre, London North West Healthcare NHS Trust, Harrow, UK., Colgiu IG; Wellcome Trust Sanger Institute, Cambridge, UK., Cosgrove C; Department of Cardiovascular Medicine, University of Oxford, Oxford, UK., Cox H; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Birmingham, UK., Daehnert I; Competence Network for Congenital Heart Defects, National Register for Congenital Heart Defects, DZHK, Berlin, Germany.; Department of Pediatric Cardiology, Heart Center, University of Leipzig, Leipzig, Germany., Daly A; Wellcome Trust Sanger Institute, Cambridge, UK., Danesh J; Wellcome Trust Sanger Institute, Cambridge, UK.; NIHR Blood and Transplant Research Unit in Donor Health and Genomics, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; INTERVAL Coordinating Centre, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Fryer A; Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK., Gewillig M; Department of Pediatric Cardiology, University Hospitals Leuven, Leuven, Belgium., Hobson E; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, UK., Hoff K; Department of Congenital Heart Disease and Pediatric Cardiology, Universitätsklinikum Schleswig-Holstein Kiel, Kiel, Germany.; German Center for Cardiovascular Research (DZHK), Berlin, Germany., Homfray T; South West Thames Regional Genetics Centre, St George's Healthcare NHS Trust, University of London, London, UK., Kahlert AK; Department of Congenital Heart Disease and Pediatric Cardiology, Universitätsklinikum Schleswig-Holstein Kiel, Kiel, Germany.; German Center for Cardiovascular Research (DZHK), Berlin, Germany.; Institute for Clinical Genetics, Carl Gustav Carus Faculty of Medicine, Dresden, Germany., Ketley A; School of Life Sciences, University of Nottingham, Queen's Medical Centre, Nottingham, UK., Kramer HH; Department of Congenital Heart Disease and Pediatric Cardiology, Universitätsklinikum Schleswig-Holstein Kiel, Kiel, Germany.; German Center for Cardiovascular Research (DZHK), Berlin, Germany.; Competence Network for Congenital Heart Defects, National Register for Congenital Heart Defects, DZHK, Berlin, Germany., Lachlan K; Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton, UK.; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, UK.; Faculty of Medicine, University of Southampton, Southampton, UK., Lampe AK; South East of Scotland Clinical Genetic Service, IGMM North, Western General Hospital, Edinburgh, UK., Louw JJ; Department of Pediatric Cardiology, University Hospitals Leuven, Leuven, Belgium., Manickara AK; Hospital for Sick Children, Toronto, Ontario, Canada., Manase D; Hospital for Sick Children, Toronto, Ontario, Canada., McCarthy KP; Cardiac Morphology Unit, Royal Brompton Hospital and the National Heart and Lung Institute, Imperial College, UK., Metcalfe K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK., Moore C; INTERVAL Coordinating Centre, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK., Newbury-Ecob R; Department of Clinical Genetics, St Michael's Hospital, Bristol, UK., Omer SO; Division of Pediatric Cardiology, King Abdulaziz Cardiac Center, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs, Riyadh, Saudi Arabia., Ouwehand WH; Wellcome Trust Sanger Institute, Cambridge, UK.; NIHR Blood and Transplant Research Unit in Donor Health and Genomics, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; Department of Haematology, University of Cambridge, Cambridge, UK.; NHS Blood and Transplant, Cambridge, UK., Park SM; East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK., Parker MJ; Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK., Pickardt T; Competence Network for Congenital Heart Defects, National Register for Congenital Heart Defects, DZHK, Berlin, Germany., Pollard MO; Wellcome Trust Sanger Institute, Cambridge, UK., Robert L; South East Thames Regional Genetics Centre, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, UK., Roberts DJ; NIHR Blood and Transplant Research Unit in Donor Health and Genomics, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; NHS Blood and Transplant, John Radcliffe Hospital, Oxford, UK.; Radcliffe Department of Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK., Sambrook J; INTERVAL Coordinating Centre, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.; Department of Haematology, University of Cambridge, Cambridge, UK., Setchfield K; School of Life Sciences, University of Nottingham, Queen's Medical Centre, Nottingham, UK., Stiller B; Competence Network for Congenital Heart Defects, National Register for Congenital Heart Defects, DZHK, Berlin, Germany.; Department of Congenital Heart Defects and Pediatric Cardiology, Heart Centre, University of Freiburg, Freiburg, Germany., Thornborough C; East Midlands Congenital Heart Centre, Glenfield Hospital, Leicester, UK., Toka O; Competence Network for Congenital Heart Defects, National Register for Congenital Heart Defects, DZHK, Berlin, Germany.; Friedrich Alexander Universität Erlangen-Nürnberg (FAU), Department of Pediatric Cardiology, Erlangen, Germany., Watkins H; Department of Cardiovascular Medicine, University of Oxford, Oxford, UK., Williams D; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham Women's Hospital, Birmingham, UK., Wright M; Northern Genetics Service, Newcastle-upon-Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics, International Centre for Life, Newcastle-upon-Tyne, UK., Mital S; Hospital for Sick Children, Toronto, Ontario, Canada., Daubeney PE; Division of Paediatric Cardiology, Royal Brompton Hospital, London, UK.; Paediatric Cardiology, Imperial College, London, UK., Keavney B; Institute of Cardiovascular Sciences, University of Manchester, Manchester, UK., Goodship J; Institute of Genetic Medicine, Newcastle University, Newcastle-upon-Tyne, UK., Abu-Sulaiman RM; Division of Pediatric Cardiology, King Abdulaziz Cardiac Center, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs, Riyadh, Saudi Arabia.; King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia., Klaassen S; German Center for Cardiovascular Research (DZHK), Berlin, Germany.; Competence Network for Congenital Heart Defects, National Register for Congenital Heart Defects, DZHK, Berlin, Germany.; Experimental and Clinical Research Center (ECRC), Charité Medical Faculty and Max Delbruck Center for Molecular Medicine, Berlin, Germany.; Department of Pediatric Cardiology, Charité University Medicine, Berlin, Germany., Wright CF; Wellcome Trust Sanger Institute, Cambridge, UK., Firth HV; East Anglian Medical Genetics, Cambridge University Hospitals NHS Foundation Trust, Biomedical Campus, Cambridge, UK., Barrett JC; Wellcome Trust Sanger Institute, Cambridge, UK., Devriendt K; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., FitzPatrick DR; Medical Research Council (MRC) Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine (IGMM), University of Edinburgh, Western General Hospital, Edinburgh, UK., Brook JD; School of Life Sciences, University of Nottingham, Queen's Medical Centre, Nottingham, UK., Hurles ME; Wellcome Trust Sanger Institute, Cambridge, UK.
Publikováno v:
Nature genetics [Nat Genet] 2016 Sep; Vol. 48 (9), pp. 1060-5. Date of Electronic Publication: 2016 Aug 01.
Autor:
Barc, Julien, Tadros, Rafik, Glinge, Charlotte, Chiang, David Y., Jouni, Mariam, Simonet, Floriane, Jurgens, Sean J., Baudic, Manon, Nicastro, Michele, Potet, Franck, Offerhaus, Joost A., Walsh, Roddy, Choi, Seung Hoan, Verkerk, Arie O., Mizusawa, Yuka, Anys, Soraya, Minois, Damien, Arnaud, Marine, Duchateau, Josselin, Wijeyeratne, Yanushi D., Muir, Alison, Papadakis, Michael, Castelletti, Silvia, Torchio, Margherita, Ortuño, Cristina Gil, Lacunza, Javier, Giachino, Daniela F., Cerrato, Natascia, Martins, Raphaël P., Campuzano, Oscar, Van Dooren, Sonia, Thollet, Aurélie, Kyndt, Florence, Mazzanti, Andrea, Clémenty, Nicolas, Bisson, Arnaud, Corveleyn, Anniek, Stallmeyer, Birgit, Dittmann, Sven, Saenen, Johan, Noël, Antoine, Honarbakhsh, Shohreh, Rudic, Boris, Marzak, Halim, Rowe, Matthew K., Federspiel, Claire, Le Page, Sophie, Placide, Leslie, Milhem, Antoine, Barajas-Martinez, Hector, Beckmann, Britt-Maria, Krapels, Ingrid P., Steinfurt, Johannes, Winkel, Bo Gregers, Jabbari, Reza, Shoemaker, Moore B., Boukens, Bas J., Škorić-Milosavljević, Doris, Bikker, Hennie, Manevy, Federico, Lichtner, Peter, Ribasés, Marta, Meitinger, Thomas, Müller-Nurasyid, Martina, Strauch, Konstantin, Peters, Annette, Schulz, Holger, Schwettmann, Lars, Leidl, Reiner, Heier, Margit, Veldink, Jan H., van den Berg, Leonard H., Van Damme, Philip, Cusi, Daniele, Lanzani, Chiara, Rigade, Sidwell, Charpentier, Eric, Baron, Estelle, Bonnaud, Stéphanie, Lecointe, Simon, Donnart, Audrey, Le Marec, Hervé, Chatel, Stéphanie, Karakachoff, Matilde, Bézieau, Stéphane, London, Barry, Tfelt-Hansen, Jacob, Roden, Dan, Odening, Katja E., Cerrone, Marina, Chinitz, Larry A., Volders, Paul G., van de Berg, Maarten P., Laurent, Gabriel, Faivre, Laurence, Antzelevitch, Charles, Kääb, Stefan, Arnaout, Alain Al, Dupuis, Jean-Marc, Pasquie, Jean-Luc, Billon, Olivier, Roberts, Jason D., Jesel, Laurence, Borggrefe, Martin, Lambiase, Pier D., Mansourati, Jacques, Loeys, Bart, Leenhardt, Antoine, Guicheney, Pascale, Maury, Philippe, Schulze-Bahr, Eric, Robyns, Tomas, Breckpot, Jeroen, Babuty, Dominique, Priori, Silvia G., Napolitano, Carlo, Defaye, Pascal, Anselme, Frédéric, Darmon, Jean Philippe, Wiart, François, de Asmundis, Carlo, Brugada, Pedro, Brugada, Ramon, Arbelo, Elena, Brugada, Josep, Mabo, Philippe, Behar, Nathalie, Giustetto, Carla, Molina, Maria Sabater, Gimeno, Juan R., Hasdemir, Can, Schwartz, Peter J., Crotti, Lia, McKeown, Pascal P., Sharma, Sanjay, Behr, Elijah R., Haissaguerre, Michel, Sacher, Frédéric, Rooryck, Caroline, Tan, Hanno L., Remme, Carol A., Postema, Pieter G., Delmar, Mario, Ellinor, Patrick T., Lubitz, Steven A., Gourraud, Jean-Baptiste, Tanck, Michael W., George, Alfred L., MacRae, Calum A., Burridge, Paul W., Dina, Christian, Probst, Vincent, Wilde, Arthur A., Schott, Jean-Jacques, Redon, Richard, Bezzina, Connie R.
Publikováno v:
Nat Genet
Nature Genetics
Nature genetics
KORA-Study Group & Nantes Referral Center for inherited cardiac arrhythmia 2022, ' Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility ', Nature Genetics, vol. 54, no. 3, pp. 232-239 . https://doi.org/10.1038/s41588-021-01007-6
Nature Genetics, 2022, 54 (3), pp.232-239. ⟨10.1038/s41588-021-01007-6⟩
Nat. Genet. 54, 232-239 (2022)
Nature genetics, 54(3), 232-239. Nature Publishing Group
Nature Genetics, 54(3), 232-239. Nature Publishing Group
Nature Genetics
Nature genetics
KORA-Study Group & Nantes Referral Center for inherited cardiac arrhythmia 2022, ' Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility ', Nature Genetics, vol. 54, no. 3, pp. 232-239 . https://doi.org/10.1038/s41588-021-01007-6
Nature Genetics, 2022, 54 (3), pp.232-239. ⟨10.1038/s41588-021-01007-6⟩
Nat. Genet. 54, 232-239 (2022)
Nature genetics, 54(3), 232-239. Nature Publishing Group
Nature Genetics, 54(3), 232-239. Nature Publishing Group
Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in young adults. With the exception of SCN5A, encoding the cardiac sodium channel Na(V)1.5, susceptibility genes remain largely unknown. Here we performed a genome-w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a005ee4626291bd7923a30190df9c3ab
https://europepmc.org/articles/PMC9376964/
https://europepmc.org/articles/PMC9376964/
Autor:
Charles Antzelevitch, Ahmad S. Amin, Bo Gregers Winkel, Dan M. Roden, Stefan Kääb, Jonathan R. Skinner, Seiko Ohno, Julien Barc, Birgit Stallmeyer, Carla Giustetto, Connie R. Bezzina, Francesco Mazzarotto, Tomas Robyns, Carlo Napolitano, Stellan Mörner, Doris Škorić-Milosavljević, Sven Dittmann, Kenichiro Yamagata, Sonia Van Dooren, Anniek Corveleyn, Carlo de Asmundis, Ramon Brugada, K Usuda, Yuji Tanaka, Sven Zumhagen, Tadashi Nakajima, Johan Saenen, Elijah R. Behr, Hector Barajas-Martinez, Stéphane Bézieau, Masao Yoshinaga, Georgia Sarquella-Brugada, Paul G.A. Volders, Juan R. Gimeno, Lia Crotti, Charlotte Glinge, Andrea Mazzanti, Ingrid P.C. Krapels, Nicola Whiffin, Sebastian Clauss, Yoshiaki Kaneko, James S. Ware, Minoru Horie, Keiko Shimamoto, Isabelle Denjoy, Pieter G. Postema, Christian Krijger, Takeshi Aiba, Masahiko Kurabayashi, Pyotr G. Platonov, Regina Sebastiano, Cristina Gil Ortuño, Annika Rydberg, Roddy Walsh, Michael J. Ackerman, Hideki Itoh, M. Benjamin Shoemaker, Can Hasdemir, Pascale Guicheney, J. Martijn Bos, Frederic Sacher, Takeru Makiyama, Julieta Lazarte, Maarten P. van den Berg, Dominique Babuty, David J. Tester, Silvia Castelletti, Jacques Mansourati, Antoine Leenhardt, Paul A. van der Zwaag, Sanjay Sharma, Elena Arbelo, Candan Celen, Pier D. Lambiase, Maria Christina Kotta, Johannes Steinfurt, Jean-Baptiste Gourraud, Pedro Brugada, Wataru Shimizu, Josep Brugada, Jørgen K. Kanters, Eline A. Nannenberg, Silvia G. Priori, Mary N. Sheppard, Richard Redon, Morten S. Olesen, Jeroen Breckpot, Britt M. Beckmann, Naomasa Makita, Martin Borggrefe, Rafik Tadros, Jean-Jacques Schott, Jacob Tfelt-Hansen, Steven A. Lubitz, Hatice Şahin, Najim Lahrouchi, Michael Papadakis, Daisuke Hazeki, Kenshi Hayashi, Oscar Campuzano, Katja E. Odening, Federica Dagradi, Eric Schulze-Bahr, Boris Rudic, Hiroki Kimoto, Vincent Probst, Jason D. Roberts, Raphaël P. Martins, Bart Loeys, Daniela F. Giachino, F. Kyndt, Kimie Ohkubo, Taisuke Ishikawa, Catarina Lundin, Lut Van Laer, Patrick T. Ellinor, Maria Sabater Molina, Peter J. Schwartz, Annika Winbo
Publikováno v:
Nantes Referral Center for inherited cardiac arrhythmia 2021, ' Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls ', Genetics In Medicine, vol. 23, pp. 47–58 . https://doi.org/10.1038/s41436-020-00946-5
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, ⟨10.1038/s41436-020-⟩
Genetics in Medicine, 47-58. Nature Publishing Group
ISSUE=1;STARTPAGE=47;ENDPAGE=58;ISSN=1098-3600;TITLE=Genetics in Medicine
Genetics in medicine
Walsh, Roddy; Lahrouchi, Najim; Tadros, Rafik; Kyndt, Florence; Glinge, Charlotte; Postema, Pieter G; Amin, Ahmad S; Nannenberg, Eline A; Ware, James S; Whiffin, Nicola; Mazzarotto, Francesco; Škorić-Milosavljević, Doris; Krijger, Christian; Arbelo, Elena; Babuty, Dominique; Barajas-Martinez, Hector; Beckmann, Britt M; Bézieau, Stéphane; Bos, J Martijn; Breckpot, Jeroen; ... (2021). Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls. Genetics in medicine, 23(1), pp. 47-58. Springer Nature 10.1038/s41436-020-00946-5
Genetics in medicine, 23(1), 47-58. Lippincott Williams and Wilkins
Genetics in Medicine, 23(1), 47-58. Nature Publishing Group
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, ⟨10.1038/s41436-020-⟩
Genetics in Medicine, 47-58. Nature Publishing Group
ISSUE=1;STARTPAGE=47;ENDPAGE=58;ISSN=1098-3600;TITLE=Genetics in Medicine
Genetics in medicine
Walsh, Roddy; Lahrouchi, Najim; Tadros, Rafik; Kyndt, Florence; Glinge, Charlotte; Postema, Pieter G; Amin, Ahmad S; Nannenberg, Eline A; Ware, James S; Whiffin, Nicola; Mazzarotto, Francesco; Škorić-Milosavljević, Doris; Krijger, Christian; Arbelo, Elena; Babuty, Dominique; Barajas-Martinez, Hector; Beckmann, Britt M; Bézieau, Stéphane; Bos, J Martijn; Breckpot, Jeroen; ... (2021). Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls. Genetics in medicine, 23(1), pp. 47-58. Springer Nature 10.1038/s41436-020-00946-5
Genetics in medicine, 23(1), 47-58. Lippincott Williams and Wilkins
Genetics in Medicine, 23(1), 47-58. Nature Publishing Group
Purpose: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::193437f5ba4e2e30da09bd570e67f778
http://hdl.handle.net/10044/1/82315
http://hdl.handle.net/10044/1/82315