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. |
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| 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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| ISSN: | 1460-2083 |
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| DOI: | 10.1093/hmg/ddac261 |
