Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

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Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Walsh, Roddy (author): Academic Medical Center of University of Amsterdam (AMC)

Lahrouchi, Najim (author): Academic Medical Center of University of Amsterdam (AMC)

Tadros, Rafik (author): Montreal Heart Institute

Kyndt, Florence (author): University of Nantes

Glinge, Charlotte (author): Copenhagen University Hospital

Postema, Pieter G. (author): Academic Medical Center of University of Amsterdam (AMC)

Amin, Ahmad S. (author): Academic Medical Center of University of Amsterdam (AMC)

Nannenberg, Eline A. (author): Academic Medical Center of University of Amsterdam (AMC),University of Barcelona,Institutd' Investigacions Biomèdiques August Pi iSunyer (IDIBAPS),Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV)

Ware, James S. (author): Imperial College London,Royal Brompton and Harefield NHS Foundation Trust

Whiffin, Nicola (author): Imperial College London,Royal Brompton and Harefield NHS Foundation Trust

Mazzarotto, Francesco (author): Imperial College London,Royal Brompton and Harefield NHS Foundation Trust,Careggi University Hospital,University of Florence

Skoric-Milosavljevic, Doris (author): Academic Medical Center of University of Amsterdam (AMC)

Krijger, Christian (author): Academic Medical Center of University of Amsterdam (AMC)

Arbelo, Elena (author)

Babuty, Dominique (author): University Hospital of Tours

Barajas-Martinez, Hector (author): Lankenau Institute for Medical Research

Beckmann, Britt M. (author): German Center for Lung Research (DZL)

Bezieau, Stephane (author): University of Nantes

Bos, J. Martijn (author): Mayo Clinic Minnesota

Breckpot, Jeroen (author): University Hospitals Leuven

Campuzano, Oscar (author): University of Barcelona,University of Girona,Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV)

Castelletti, Silvia (author): Istituto Auxologico Italiano

Celen, Candan (author): Ege University Medical School,Yukioka Hospital

Clauss, Sebastian (author): German Center for Lung Research (DZL),German Centre for Cardiovascular Research,World Orthopaedic Concern

Corveleyn, Anniek (author): University Hospitals Leuven

Crotti, Lia (author): Istituto Auxologico Italiano,University of Milano-Bicocca

Dagradi, Federica (author): Istituto Auxologico Italiano

de Asmundis, Carlo (author): Universitair Ziekenhuis Brussel

Denjoy, Isabelle (author): Hopital Bichat-Claude-Bernard AP-HP

Dittmann, Sven (author): University Hospital Münster

Ellinor, Patrick T. (author): Massachusetts Institute of Technology,Massachusetts General Hospital

Ortuno, Cristina Gil (author): Hospital Virgen de la Arrixaca

Giustetto, Carla (author): Citta' della Salute e della Scienza Hospital-University of Turin

Gourraud, Jean-Baptiste (author): University of Nantes

Hazeki, Daisuke (author): Kagoshima City Hospital

Horie, Minoru (author): Shiga University of Medical Science

Ishikawa, Taisuke (author): National Cerebral and Cardiovascular Center

Itoh, Hideki (author): Hiroshima University Hospital

Kaneko, Yoshiaki (author): Gunma University

Kanters, Jorgen K. (author): University of Copenhagen

Kimoto, Hiroki (author): Nagasaki University

Kotta, Maria-Christina (author): Istituto Auxologico Italiano

Krapels, Ingrid P. C. (author)

Kurabayashi, Masahiko (author): Gunma University

Lazarte, Julieta (author): University of Western Ontario

Leenhardt, Antoine (author): Hopital Bichat-Claude-Bernard AP-HP

Loeys, Bart L. (author): Antwerp University Hospital

Lundin, Catarina (author): Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Genetiska och epigenetiska studier av barnleukemi,Forskargrupper vid Lunds universitet,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Genetic and epigenetic studies of pediatric leukemia,Lund University Research Groups

Makiyama, Takeru (author): Kyoto University

Mansourati, Jacques (author)

Martins, Raphael P. (author)

Mazzanti, Andrea (author)

Mörner, Stellan (author): Umeå universitet,Avdelningen för medicin,Centre for Cardiovascular Genetics, Umeå University, Sweden, The European Reference Network for rare, low prevalence and/or complex diseases of the heart: ERN GUARD-Heart, Amsterdam, Netherlands

Napolitano, Carlo (author)

Ohkubo, Kimie (author)

Papadakis, Michael (author)

Rudic, Boris (author)

Molina, Maria Sabater (author)

Sacher, Frederic (author)

Sahin, Hatice (author)

Sarquella-Brugada, Georgia (author)

Sebastiano, Regina (author)

Sharma, Sanjay (author)

Sheppard, Mary N. (author)

Shimamoto, Keiko (author)

Shoemaker, M. Benjamin (author)

Stallmeyer, Birgit (author)

Steinfurt, Johannes (author)

Tanaka, Yuji (author)

Tester, David J. (author)

Usuda, Keisuke (author)

van der Zwaag, Paul A. (author)

Van Dooren, Sonia (author)

Van Laer, Lut (author)

Winbo, Annika (author)

Winkel, Bo G. (author)

Yamagata, Kenichiro (author)

Zumhagen, Sven (author)

Volders, Paul G. A. (author)

Lubitz, Steven A. (author)

Antzelevitch, Charles (author)

Platonov, Pyotr G. (author): Lund University,Lunds universitet,Kardiologi,Sektion II,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Electrocardiology Research Group - CIEL,Forskargrupper vid Lunds universitet,Cardiology,Section II,Department of Clinical Sciences, Lund,Faculty of Medicine,Lund University Research Groups

Odening, Katja E. (author)

Roden, Dan M. (author)

Roberts, Jason D. (author)

Skinner, Jonathan R. (author)

Tfelt-Hansen, Jacob (author)

van den Berg, Maarten P. (author)

Olesen, Morten S. (author)

Lambiase, Pier D. (author)

Borggrefe, Martin (author)

Hayashi, Kenshi (author)

Rydberg, Annika (author): Umeå universitet,Pediatrik,The European Reference Network for rare, low prevalence and/or complex diseases of the heart: ERN GUARD-Heart, Amsterdam, Netherlands

Nakajima, Tadashi (author)

Yoshinaga, Masao (author)

Saenen, Johan B. (author)

Kaeaeb, Stefan (author)

Brugada, Pedro (author)

Robyns, Tomas (author)

Giachino, Daniela F. (author)

Ackerman, Michael J. (author)

Brugada, Ramon (author)

Brugada, Josep (author)

Gimeno, Juan R. (author)

Hasdemir, Can (author)

Guicheney, Pascale (author)

Priori, Silvia G. (author)

Schulze-Bahr, Eric (author)

Makita, Naomasa (author)

Schwartz, Peter J. (author)

Shimizu, Wataru (author)

Aiba, Takeshi (author)

Schott, Jean-Jacques (author)

Redon, Richard (author)

Ohno, Seiko (author)

Probst, Vincent (author)

Behr, Elijah R. (author)

Barc, Julien (author)

Bezzina, Connie R. (author)

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(creator_code:org_t)

Nature Publishing Group, 2021
2021
English.
In: Genetics in Medicine. - : Nature Publishing Group. - 1098-3600 .- 1530-0366. ; 23:1, s. 47-58

Related links:: https://doi.org/10.1...; show more...; https://umu.diva-por... (primary) (Raw object); https://www.nature.c...; http://dx.doi.org/10... (free); https://urn.kb.se/re...; https://doi.org/10.1...; https://lup.lub.lu.s...; show less...

Journal article (peer-reviewed)

Abstract Subject headings

Subject headings

MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
LANTBRUKSVETENSKAPER -- Bioteknologi med applikationer på växter och djur -- Genetik och förädling inom lantbruksvetenskap (hsv//swe)
AGRICULTURAL SCIENCES -- Agricultural Biotechnology -- Genetics and Breeding in Agricultural Sciences (hsv//eng)

Keyword

variant interpretation
LQTS
Brugada
ACMG/AMP guidelines
ACMG/AMP guidelines
Brugada
LQTS
variant interpretation

Publication and Content Type

ref (subject category)
art (subject category)

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By the author/editor: Walsh, Roddy; Lahrouchi, Najim; Tadros, Rafik; Kyndt, Florence; Glinge, Charlott ...; Postema, Pieter ...; show more...; Amin, Ahmad S.; Nannenberg, Elin ...; Ware, James S.; Whiffin, Nicola; Mazzarotto, Fran ...; Skoric-Milosavlj ...; Krijger, Christi ...; Arbelo, Elena; Babuty, Dominiqu ...; Barajas-Martinez ...; Beckmann, Britt ...; Bezieau, Stephan ...; Bos, J. Martijn; Breckpot, Jeroen; Campuzano, Oscar; Castelletti, Sil ...; Celen, Candan; Clauss, Sebastia ...; Corveleyn, Annie ...; Crotti, Lia; Dagradi, Federic ...; de Asmundis, Car ...; Denjoy, Isabelle; Dittmann, Sven; Ellinor, Patrick ...; Ortuno, Cristina ...; Giustetto, Carla; Gourraud, Jean-B ...; Hazeki, Daisuke; Horie, Minoru; Ishikawa, Taisuk ...; Itoh, Hideki; Kaneko, Yoshiaki; Kanters, Jorgen ...; Kimoto, Hiroki; Kotta, Maria-Chr ...; Krapels, Ingrid ...; Kurabayashi, Mas ...; Lazarte, Julieta; Leenhardt, Antoi ...; Loeys, Bart L.; Lundin, Catarina; Makiyama, Takeru; Mansourati, Jacq ...; Martins, Raphael ...; Mazzanti, Andrea; Mörner, Stellan; Napolitano, Carl ...; Ohkubo, Kimie; Papadakis, Micha ...; Rudic, Boris; Molina, Maria Sa ...; Sacher, Frederic; Sahin, Hatice; Sarquella-Brugad ...; Sebastiano, Regi ...; Sharma, Sanjay; Sheppard, Mary N ...; Shimamoto, Keiko; Shoemaker, M. Be ...; Stallmeyer, Birg ...; Steinfurt, Johan ...; Tanaka, Yuji; Tester, David J.; Usuda, Keisuke; van der Zwaag, P ...; Van Dooren, Soni ...; Van Laer, Lut; Winbo, Annika; Winkel, Bo G.; Yamagata, Kenich ...; Zumhagen, Sven; Volders, Paul G. ...; Lubitz, Steven A ...; Antzelevitch, Ch ...; Platonov, Pyotr ...; Odening, Katja E ...; Roden, Dan M.; Roberts, Jason D ...; Skinner, Jonatha ...; Tfelt-Hansen, Ja ...; van den Berg, Ma ...; Olesen, Morten S ...; Lambiase, Pier D ...; Borggrefe, Marti ...; Hayashi, Kenshi; Rydberg, Annika; Nakajima, Tadash ...; Yoshinaga, Masao; Saenen, Johan B.; Kaeaeb, Stefan; Brugada, Pedro; Robyns, Tomas; Giachino, Daniel ...; Ackerman, Michae ...; Brugada, Ramon; Brugada, Josep; Gimeno, Juan R.; Hasdemir, Can; Guicheney, Pasca ...; Priori, Silvia G ...; Schulze-Bahr, Er ...; Makita, Naomasa; Schwartz, Peter ...; Shimizu, Wataru; Aiba, Takeshi; Schott, Jean-Jac ...; Redon, Richard; Ohno, Seiko; Probst, Vincent; Behr, Elijah R.; Barc, Julien; Bezzina, Connie ...; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

AGRICULTURAL SCIENCES: AGRICULTURAL SCI ...; and Agricultural Bio ...; and Genetics and Bre ...

Articles in the publication: Genetics in Medi ...

By the university: Umeå University; Lund University

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