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Interpreting Incidentally Identified Variants in Genes Associated With Heritable Cardiovascular Disease: A Scientific Statement From the American Heart Association.
Landstrom AP, Chahal AA, Ackerman MJ, Cresci S, Milewicz DM, Morris AA, Sarquella-Brugada G, Semsarian C, Shah SH, Sturm AC; American Heart Association Data Science and Precision Medicine Committee of the Council on Genomic and Precision Medicine and Council on Clinical Cardiology; Council on Cardiovascular and Stroke Nursing; Council on Hypertension; Council on Lifelong Congenital Heart Disease and Heart Health in the Young; Council on Peripheral Vascular Disease; and Stroke Council. Landstrom AP, et al. Circ Genom Precis Med. 2023 Apr;16(2):e000092. doi: 10.1161/HCG.0000000000000092. Epub 2023 Mar 27. Circ Genom Precis Med. 2023. PMID: 36970980 Free article. Review.
Children and Adolescent Patients with Variants in the ATP1A3 -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction.
Srour MK, Bidzimou MK, Muralidharan P, Mitchell SM, Moya-Mendez ME, Parker LE, Valenzuela GR, Caraballo R, Garone G, Vigevano F, Weckhuysen S, Millevert C, Troncoso M, Matamala M, Balestrini S, Sisodiya SM, Poole J, Zucca C, Panagiotakaki E, Papadopoulou MT, Tchaicha S, Terzi MAP, Zawadzka M, Mazurkiewicz-Bełdzińska M, Fons C, Anticona J, De Grandis E, Cordani R, Pisciotta L, Groppa S, Paryjas S, Ragona F, Mangia E, Granata T, Megvinov A, Vavassori R, Mikati MA, Landstrom AP. Srour MK, et al. Among authors: landstrom ap. medRxiv [Preprint]. 2024 Oct 31:2024.08.31.24312446. doi: 10.1101/2024.08.31.24312446. medRxiv. 2024. PMID: 39252916 Free PMC article. Preprint.
ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.
Hespe S, Waddell A, Asatryan B, Owens E, Thaxton C, Adduru ML, Anderson K, Brown EE, Hoffman-Andrews L, Jordan E, Josephs K, Mayers M, Peters S, Stafford F, Bagnall RD, Bronicki L, Callewaert B, Chahal CAA, James CA, Jarinova O, Landstrom AP, McNally EM, Murray B, Muiño-Mosquera L, Parikh V, Reuter C, Walsh R, Wayburn B, Ware JS, Ingles J. Hespe S, et al. Among authors: landstrom ap. medRxiv [Preprint]. 2024 Jul 31:2024.07.29.24311195. doi: 10.1101/2024.07.29.24311195. medRxiv. 2024. PMID: 39132495 Free PMC article. Preprint.
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: landstrom ap. 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.
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: landstrom ap. 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.
107 results