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Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel.
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: adduru ml. J Am Coll Cardiol. 2025 Feb 25;85(7):727-740. doi: 10.1016/j.jacc.2024.12.010. J Am Coll Cardiol. 2025. PMID: 39971408 Free PMC article.
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: adduru ml. medRxiv [Preprint]. 2024 Jul 31:2024.07.29.24311195. doi: 10.1101/2024.07.29.24311195. medRxiv. 2024. Update in: J Am Coll Cardiol. 2025 Feb 25;85(7):727-740. doi: 10.1016/j.jacc.2024.12.010. PMID: 39132495 Free PMC article. Updated. Preprint.
Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy.
Hespe S, Singer ES, Reuter C, Murray B, Jordan E, Chowns J, Peters S, Mayers M, Gray B, Hershberger RE, Owens AT, Semsarian C, Waddell A, Asatryan B, Owens E, Thaxton C, Adduru ML, Anderson K, Brown EE, Hoffman-Andrews L, Stafford F, Bagnall RD, Bronicki L, Callewaert B, Chahal CAA, James CA, Jarinova O, Landstrom AP, McNally EM, Muiño-Mosquera L, Parikh V, Walsh R, Wayburn B, Ware JS, Parker BL, Porrello ER, Elliott DA, McNamara JW, Ingles J. Hespe S, et al. Among authors: adduru ml. Circ Genom Precis Med. 2025 Jun;18(3):e004976. doi: 10.1161/CIRCGEN.124.004976. Epub 2025 Apr 21. Circ Genom Precis Med. 2025. PMID: 40255155 No abstract available.