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227 results

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Amino Acid-Level Signal-to-Noise Analysis Aids in Pathogenicity Prediction of Incidentally Identified TTN-Encoded Titin Truncating Variants.
Connell PS, Berkman AM, Souder BM, Pirozzi EJ, Lovin JJ, Rosenfeld JA, Liu P, Tunuguntla H, Allen HD, Denfield SW, Kim JJ, Landstrom AP. Connell PS, et al. Among authors: allen hd. Circ Genom Precis Med. 2021 Feb;14(1):e003131. doi: 10.1161/CIRCGEN.120.003131. Epub 2020 Nov 23. Circ Genom Precis Med. 2021. PMID: 33226272 Free PMC article.
Amino acid-level signal-to-noise analysis of incidentally identified variants in genes associated with long QT syndrome during pediatric whole exome sequencing reflects background genetic noise.
Landstrom AP, Fernandez E, Rosenfeld JA, Yang Y, Dailey-Schwartz AL, Miyake CY, Allen HD, Penny DJ, Kim JJ. Landstrom AP, et al. Among authors: allen hd. Heart Rhythm. 2018 Jul;15(7):1042-1050. doi: 10.1016/j.hrthm.2018.02.031. Epub 2018 Mar 2. Heart Rhythm. 2018. PMID: 29501670 Free PMC article.
Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation.
Headrick AT, Rosenfeld JA, Yang Y, Tunuguntla H, Allen HD, Penny DJ, Kim JJ, Landstrom AP. Headrick AT, et al. Among authors: allen hd. Mol Genet Genomic Med. 2019 Jun;7(6):e593. doi: 10.1002/mgg3.593. Epub 2019 Apr 15. Mol Genet Genomic Med. 2019. PMID: 30985088 Free PMC article.
Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals.
Landstrom AP, Dailey-Schwartz AL, Rosenfeld JA, Yang Y, McLean MJ, Miyake CY, Valdes SO, Fan Y, Allen HD, Penny DJ, Kim JJ. Landstrom AP, et al. Among authors: allen hd. Circ Arrhythm Electrophysiol. 2017 Apr;10(4):e004742. doi: 10.1161/CIRCEP.116.004742. Circ Arrhythm Electrophysiol. 2017. PMID: 28404607 Free PMC article.
Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.
Jones EG, Mazaheri N, Maroofian R, Zamani M, Seifi T, Sedaghat A, Shariati G, Jamshidi Y, Allen HD, Wehrens XHT, Galehdari H, Landstrom AP. Jones EG, et al. Among authors: allen hd. Sci Rep. 2019 Jun 21;9(1):9038. doi: 10.1038/s41598-019-44987-6. Sci Rep. 2019. PMID: 31227780 Free PMC article.
Variant R94C in TNNT2-Encoded Troponin T Predisposes to Pediatric Restrictive Cardiomyopathy and Sudden Death Through Impaired Thin Filament Relaxation Resulting in Myocardial Diastolic Dysfunction.
Ezekian JE, Clippinger SR, Garcia JM, Yang Q, Denfield S, Jeewa A, Dreyer WJ, Zou W, Fan Y, Allen HD, Kim JJ, Greenberg MJ, Landstrom AP. Ezekian JE, et al. Among authors: allen hd. J Am Heart Assoc. 2020 Mar 3;9(5):e015111. doi: 10.1161/JAHA.119.015111. Epub 2020 Feb 26. J Am Heart Assoc. 2020. PMID: 32098556 Free PMC article.
Meta-analysis of cardiomyopathy-associated variants in troponin genes identifies loci and intragenic hot spots that are associated with worse clinical outcomes.
Tadros HJ, Life CS, Garcia G, Pirozzi E, Jones EG, Datta S, Parvatiyar MS, Chase PB, Allen HD, Kim JJ, Pinto JR, Landstrom AP. Tadros HJ, et al. Among authors: allen hd. J Mol Cell Cardiol. 2020 May;142:118-125. doi: 10.1016/j.yjmcc.2020.04.005. Epub 2020 Apr 9. J Mol Cell Cardiol. 2020. PMID: 32278834 Free PMC article.
227 results