Search Results - "Puckelwartz MJ"

Engineered Heart Tissues Facilitate Noncoding Variant Studies in Cardiomyopathy.

Authors: Weber ZT Monroe TO Holgren C et al.

Source: Circulation research [Circ Res] 2026 Jun 29. Date of Electronic Publication: 2026 Jun 29.

Publication Type: Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0047103 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1524-4571 (Electronic) Linking ISSN: 00097330 NLM ISO Abbreviation: Circ Res Subsets: MEDLINE

From Statistical Enrichment to Clinical Attribution in Sudden Cardiac Arrest.

Authors: Webster G Puckelwartz MJ

Source: JACC. Clinical electrophysiology [JACC Clin Electrophysiol] 2026 May 12. Date of Electronic Publication: 2026 May 12.

Publication Type: Editorial

Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101656995 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2405-5018 (Electronic) Linking ISSN: 2405500X NLM ISO Abbreviation: JACC Clin Electrophysiol Subsets: MEDLINE

Identification of candidate cardiomyopathy modifier genes through genome sequencing and RNA profiling.

Authors: Lindholm ME Abramowitz S Waggott DM et al.

Source: Frontiers in cardiovascular medicine [Front Cardiovasc Med] 2025 Jul 28; Vol. 12, pp. 1546493. Date of Electronic Publication: 2025 Jul 28 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101653388 Publication Model: eCollection Cited Medium: Print ISSN: 2297-055X (Print) Linking ISSN: 2297055X NLM ISO Abbreviation: Front Cardiovasc Med Subsets: PubMed not MEDLINE

A novel, rapidly progressive ataxia due to a spontaneous Myo5a mutation in mice impairs transport proteins and alters mitochondria.

Authors: Telenson AM Hsieh RR Cowen GJ et al.

Source: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2025 Mar 15; Vol. 39 (5), pp. e70423.

Publication Type: Journal Article

Journal Info: Publisher: Federation of American Societies for Experimental Biology Country of Publication: United States NLM ID: 8804484 Publication Model: Print Cited Medium: Internet ISSN: 1530-6860 (Electronic) Linking ISSN: 08926638 NLM ISO Abbreviation: FASEB J Subsets: MEDLINE

The Past, the Present, and the Future of Genomic Therapies in Cardiovascular Disease.

Authors: McNally EM Puckelwartz MJ Nóbrega MA

Source: Journal of the American Heart Association [J Am Heart Assoc] 2024 Dec 03; Vol. 13 (23), pp. e035987. Date of Electronic Publication: 2024 Nov 22.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101580524 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2047-9980 (Electronic) Linking ISSN: 20479980 NLM ISO Abbreviation: J Am Heart Assoc Subsets: MEDLINE; In Process

Author Correction: Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum.

Authors: Lee DSM Cardone KM Zhang DY et al.

Corporate Authors: Lee DSM Cardone KM Zhang DY et al.

Source: Nature genetics [Nat Genet] 2025 Dec; Vol. 57 (12), pp. 3201.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE; In Process

A combined genomic arrhythmia propensity score delineates cumulative risk.

Authors: Monroe TO Puckelwartz MJ Pesce LL et al.

Source: Cell reports. Medicine [Cell Rep Med] 2025 Nov 18; Vol. 6 (11), pp. 102455. Date of Electronic Publication: 2025 Nov 11.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101766894 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-3791 (Electronic) Linking ISSN: 26663791 NLM ISO Abbreviation: Cell Rep Med Subsets: MEDLINE

Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias.

Authors: Ohiri JC Dellefave-Castillo L Tomar G et al.

Source: Journal of the American Heart Association [J Am Heart Assoc] 2024 May 21; Vol. 13 (10), pp. e030467. Date of Electronic Publication: 2024 May 18.

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

Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101580524 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2047-9980 (Electronic) Linking ISSN: 20479980 NLM ISO Abbreviation: J Am Heart Assoc Subsets: MEDLINE

Current Limitations of Electronic Health Record Systems in Supporting Pragmatic Clinical Trials: Insights from the eMERGE Consortium.

Authors: Wagholikar KB Pacheco JA Gordon AS et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Apr 03. Date of Electronic Publication: 2025 Apr 03.

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

Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum.

Authors: Lee DSM Cardone KM Zhang DY et al.

Corporate Authors: Lee DSM Cardone KM Zhang DY et al.

Source: Nature genetics [Nat Genet] 2025 Apr; Vol. 57 (4), pp. 829-838. Date of Electronic Publication: 2025 Apr 07.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Opposing effects of genetic variation in MTCH2 for obesity versus heart failure.

Authors: Fischer JA Monroe TO Pesce LL et al.

Source: Human molecular genetics [Hum Mol Genet] 2023 Jan 01; Vol. 32 (1), pp. 15-29.

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: 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 factors affecting polygenic score performance across diverse cohorts.

Authors: Hui D Dudek S Kiryluk K et al.

Corporate Authors: Hui D Dudek S Kiryluk K et al.

Source: ELife [Elife] 2025 Jan 24; Vol. 12. Date of Electronic Publication: 2025 Jan 24.

Publication Type: Journal Article

Journal Info: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

Genetically based atrial fibrillation: Current considerations for diagnosis and management.

Authors: Pensa AV Baman JR Puckelwartz MJ et al.

Source: Journal of cardiovascular electrophysiology [J Cardiovasc Electrophysiol] 2022 Aug; Vol. 33 (8), pp. 1944-1953. Date of Electronic Publication: 2022 Mar 19.

Publication Type: Journal Article; Review

Journal Info: Publisher: Blackwell Country of Publication: United States NLM ID: 9010756 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-8167 (Electronic) Linking ISSN: 10453873 NLM ISO Abbreviation: J Cardiovasc Electrophysiol Subsets: MEDLINE

Common- and rare-variant genetic architecture of heart failure across the allele frequency spectrum.

Authors: Lee DSM Cardone KM Zhang DY et al.

Corporate Authors: Lee DSM Cardone KM Zhang DY et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Oct 23. Date of Electronic Publication: 2024 Oct 23.

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

Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP.

Authors: Webster G Reynolds M Arva NC et al.

Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Aug; Vol. 185 (8), pp. 2496-2501. Date of Electronic Publication: 2021 May 18.

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

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

Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network.

Authors: Lewis ACF Chisholm RL Connolly JJ et al.

Source: American journal of human genetics [Am J Hum Genet] 2024 Jun 06; Vol. 111 (6), pp. 999-1005. Date of Electronic Publication: 2024 Apr 29.

Publication Type: Journal Article; Review; 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

Susceptibility to innate immune activation in genetically mediated myocarditis.

Authors: Selgrade DF Fullenkamp DE Chychula IA et al.

Source: The Journal of clinical investigation [J Clin Invest] 2024 May 16; Vol. 134 (13). Date of Electronic Publication: 2024 May 16.

Publication Type: Journal Article

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

Risk factors affecting polygenic score performance across diverse cohorts.

Authors: Hui D Dudek S Kiryluk K et al.

Corporate Authors: Hui D Dudek S Kiryluk K et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Apr 10. Date of Electronic Publication: 2024 Apr 10.

Publication Type: Preprint; Journal Article

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

Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations.

Authors: Lennon NJ Kottyan LC Kachulis C et al.

Corporate Authors: Lennon NJ Kottyan LC Kachulis C et al.

Source: Nature medicine [Nat Med] 2024 Feb; Vol. 30 (2), pp. 480-487. Date of Electronic Publication: 2024 Feb 19.

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

Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

Genome-wide association for heart failure: from discovery to clinical use.

Authors: Fullenkamp DE Puckelwartz MJ McNally EM

Source: European heart journal [Eur Heart J] 2021 May 21; Vol. 42 (20), pp. 2012-2014.

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