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Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.

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Title: Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.
Authors: Copier JS; Experimental Cardiology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam, The Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart'., Bootsma M; Department of Cardiology, Leiden University Medical Center, Albinusdreef 2, 2300 Leiden, The Netherlands., Ng CA; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, UNSW Sydney, Darlinghurst, New South Wales, Australia., Wilde AAM; Experimental Cardiology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam, The Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart'., Bertels RA; Department of Paediatric Cardiology, Leiden University Medical Center, Willem-Alexander Children's Hospital, Albinusdreef 2, 2333 Leiden, Netherlands., Bikker H; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart'.; Human Genetics, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands., Christiaans I; Department of Clinical Genetics, University Medical Centre Groningen, 9713GZ Groningen, The Netherlands., van der Crabben SN; Human Genetics, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands., Hol JA; Erasmus MC, Clinical Genetics, Doctor Molewaterplein 40, 3015 Rotterdam, The Netherlands., Koopmann TT; Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 Leiden, The Netherlands., Knijnenburg J; Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 Leiden, The Netherlands., Lommerse AAJ; Department of Cardiology, Leiden University Medical Center, Albinusdreef 2, 2300 Leiden, The Netherlands., van der Smagt JJ; Clinical Genetics, University Medical Center Utrecht, Lundlaan 6, Utrecht, The Netherlands., Bezzina CR; Experimental Cardiology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam, The Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart'., Vandenberg JI; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, UNSW Sydney, Darlinghurst, New South Wales, Australia., Verkerk AO; Experimental Cardiology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam, The Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart'.; Medical Biology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands., Barge-Schaapveld DQCM; Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 Leiden, The Netherlands., Lodder EM; Experimental Cardiology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam, The Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart'.
Source: Human molecular genetics [Hum Mol Genet] 2023 Mar 20; Vol. 32 (7), pp. 1072-1082.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.
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  Data: <searchLink fieldCode="AU" term="%22Copier+JS%22">Copier JS</searchLink>; Experimental Cardiology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam, The Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart'.<br /><searchLink fieldCode="AU" term="%22Bootsma+M%22">Bootsma M</searchLink>; Department of Cardiology, Leiden University Medical Center, Albinusdreef 2, 2300 Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Ng+CA%22">Ng CA</searchLink>; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, UNSW Sydney, Darlinghurst, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Wilde+AAM%22">Wilde AAM</searchLink>; Experimental Cardiology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam, The Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart'.<br /><searchLink fieldCode="AU" term="%22Bertels+RA%22">Bertels RA</searchLink>; Department of Paediatric Cardiology, Leiden University Medical Center, Willem-Alexander Children's Hospital, Albinusdreef 2, 2333 Leiden, Netherlands.<br /><searchLink fieldCode="AU" term="%22Bikker+H%22">Bikker H</searchLink>; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart'.; Human Genetics, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Christiaans+I%22">Christiaans I</searchLink>; Department of Clinical Genetics, University Medical Centre Groningen, 9713GZ Groningen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+der+Crabben+SN%22">van der Crabben SN</searchLink>; Human Genetics, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Hol+JA%22">Hol JA</searchLink>; Erasmus MC, Clinical Genetics, Doctor Molewaterplein 40, 3015 Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Koopmann+TT%22">Koopmann TT</searchLink>; Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Knijnenburg+J%22">Knijnenburg J</searchLink>; Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Lommerse+AAJ%22">Lommerse AAJ</searchLink>; Department of Cardiology, Leiden University Medical Center, Albinusdreef 2, 2300 Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+der+Smagt+JJ%22">van der Smagt JJ</searchLink>; Clinical Genetics, University Medical Center Utrecht, Lundlaan 6, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bezzina+CR%22">Bezzina CR</searchLink>; Experimental Cardiology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam, The Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart'.<br /><searchLink fieldCode="AU" term="%22Vandenberg+JI%22">Vandenberg JI</searchLink>; Mark Cowley Lidwill Research Program in Cardiac Electrophysiology, Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia.; School of Clinical Medicine, UNSW Sydney, Darlinghurst, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Verkerk+AO%22">Verkerk AO</searchLink>; Experimental Cardiology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam, The Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart'.; Medical Biology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Barge-Schaapveld+DQCM%22">Barge-Schaapveld DQCM</searchLink>; Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Lodder+EM%22">Lodder EM</searchLink>; Experimental Cardiology, Amsterdam UMC location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, Amsterdam, The Netherlands.; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart: ERN GUARD-Heart'.
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        Value: 10.1093/hmg/ddac261
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              Text: 2023 Mar 20
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