Search Results - "Lodder EM"

Reduced kinase function in two ultra-rare TNNI3K variants in families with congenital junctional ectopic tachycardia.

Authors: Pham C Koopmann TT Vinocur JM et al.

Source: Clinical genetics [Clin Genet] 2024 Jul; Vol. 106 (1), pp. 37-46. Date of Electronic Publication: 2024 Feb 29.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

HCN4 in the atrioventricular node.

Authors: Copier JS Verkerk AO Lodder EM

Source: Heart rhythm [Heart Rhythm] 2025 Sep; Vol. 22 (9), pp. 2160-2173. Date of Electronic Publication: 2025 Feb 21.

Publication Type: Journal Article; Review

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 101200317 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1556-3871 (Electronic) Linking ISSN: 15475271 NLM ISO Abbreviation: Heart Rhythm Subsets: MEDLINE

Additional genetic variants in cardiomyopathy patients with the pathogenic PLN p.(Arg14del) founder variant.

Authors: van Drie E Jongbloed JDH Hoorntje E et al.

Source: International journal of cardiology [Int J Cardiol] 2025 Aug 01; Vol. 432, pp. 133264. Date of Electronic Publication: 2025 Apr 11.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 8200291 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1874-1754 (Electronic) Linking ISSN: 01675273 NLM ISO Abbreviation: Int J Cardiol Subsets: MEDLINE

Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy.

Authors: Nicastro M Vermeer AMC Postema PG et al.

Source: American journal of human genetics [Am J Hum Genet] 2025 Jul 03; Vol. 112 (7), pp. 1681-1698. Date of Electronic Publication: 2025 May 22.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

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

Authors: Copier JS Bootsma M Ng CA et al.

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

Risk of Sudden Infant Death Syndrome Among Siblings of Children Who Died of Sudden Infant Death Syndrome in Denmark.

Authors: Glinge C Rossetti S Oestergaard LB et al.

Source: JAMA network open [JAMA Netw Open] 2023 Jan 03; Vol. 6 (1), pp. e2252724. Date of Electronic Publication: 2023 Jan 03.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE

The earliest events in BRAF-mutant colorectal cancer: exome sequencing of sessile serrated lesions with a tiny focus dysplasia or cancer reveals recurring mutations in two distinct progression pathways.

Authors: Bleijenberg AG IJspeert JE Mulder JB et al.

Source: The Journal of pathology [J Pathol] 2022 Jun; Vol. 257 (2), pp. 239-249. Date of Electronic Publication: 2022 Mar 25.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: John Wiley And Sons Country of Publication: England NLM ID: 0204634 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-9896 (Electronic) Linking ISSN: 00223417 NLM ISO Abbreviation: J Pathol Subsets: MEDLINE

Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy.

Authors: Nicastro M Vermeer AMC Postema PG et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jul 05. Date of Electronic Publication: 2024 Jul 05.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Two siblings with early repolarization syndrome: clinical and genetic characterization by whole-exome sequencing.

Authors: Steinfurt J Bezzina CR Biermann J et al.

Source: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology [Europace] 2021 May 21; Vol. 23 (5), pp. 775-780.

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 100883649 Publication Model: Print Cited Medium: Internet ISSN: 1532-2092 (Electronic) Linking ISSN: 10995129 NLM ISO Abbreviation: Europace Subsets: MEDLINE

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.

Authors: Lahrouchi N Postma AV Salazar CM et al.

Source: The Journal of clinical investigation [J Clin Invest] 2021 Mar 01; Vol. 131 (5).

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Biomarkers in inherited arrhythmias: necessity for validation and collaboration.

Authors: Wilde AAM Lodder EM

Source: European heart journal [Eur Heart J] 2020 Dec 14; Vol. 41 (47), pp. 4523-4524.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Comment

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 8006263 Publication Model: Print Cited Medium: Internet ISSN: 1522-9645 (Electronic) Linking ISSN: 0195668X NLM ISO Abbreviation: Eur Heart J Subsets: MEDLINE

Histological, immunohistochemical and transcriptomic characterization of human tracheoesophageal fistulas.

Authors: Brosens E Felix JF Boerema-de Munck A et al.

Source: PloS one [PLoS One] 2020 Nov 17; Vol. 15 (11), pp. e0242167. Date of Electronic Publication: 2020 Nov 17 (Print Publication: 2020).

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

A highly specific biomarker for Brugada syndrome. Also too good to be true?

Authors: Wilde AAM Lodder EM

Source: European heart journal [Eur Heart J] 2020 Aug 07; Vol. 41 (30), pp. 2891-2893.

Publication Type: Editorial; Comment

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 8006263 Publication Model: Print Cited Medium: Internet ISSN: 1522-9645 (Electronic) Linking ISSN: 0195668X NLM ISO Abbreviation: Eur Heart J Subsets: MEDLINE

Genetic Burden of TNNI3K in Diagnostic Testing of Patients With Dilated Cardiomyopathy and Supraventricular Arrhythmias.

Authors: Pham C Andrzejczyk K Jurgens SJ et al.

Source: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2023 Aug; Vol. 16 (4), pp. 328-336. Date of Electronic Publication: 2023 May 18.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

From Genome-Wide Association Studies to Cardiac Electrophysiology: Through the Maze of Biological Complexity.

Authors: Scholman KT Meijborg VMF Gálvez-Montón C et al.

Source: Frontiers in physiology [Front Physiol] 2020 May 27; Vol. 11, pp. 557. Date of Electronic Publication: 2020 May 27 (Print Publication: 2020).

Publication Type: Journal Article; Review

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101549006 Publication Model: eCollection Cited Medium: Print ISSN: 1664-042X (Print) Linking ISSN: 1664042X NLM ISO Abbreviation: Front Physiol Subsets: PubMed not MEDLINE

Correction: Seasonality of ventricular fibrillation at first myocardial infarction and association with viral exposure.

Authors: Glinge C Engstrøm T Midgley SE et al.

Source: PloS one [PLoS One] 2020 Apr 27; Vol. 15 (4), pp. e0232569. Date of Electronic Publication: 2020 Apr 27 (Print Publication: 2020).

Publication Type: Journal Article; Published Erratum

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE; PubMed not MEDLINE

Seasonality of ventricular fibrillation at first myocardial infarction and association with viral exposure.

Authors: Glinge C Engstrøm T Midgley SE et al.

Source: PloS one [PLoS One] 2020 Feb 26; Vol. 15 (2), pp. e0226936. Date of Electronic Publication: 2020 Feb 26 (Print Publication: 2020).

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.

Authors: Škorić-Milosavljević D Tjong FVY Barc J et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2019 Sep; Vol. 179 (9), pp. 1836-1845. Date of Electronic Publication: 2019 Jul 12.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy.

Authors: Roberts JD Murphy NP Hamilton RM et al.

Source: The Journal of clinical investigation [J Clin Invest] 2019 Jul 02; Vol. 129 (8), pp. 3171-3184. Date of Electronic Publication: 2019 Jul 02 (Print Publication: 2019).

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.

Authors: Lahrouchi N George A Ratbi I et al.

Source: Nature communications [Nat Commun] 2019 Mar 12; Vol. 10 (1), pp. 1180. Date of Electronic Publication: 2019 Mar 12.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE