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224 results

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Page 1
A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.
Lehtokari VL, Sagath L, Davis M, Ho D, Kiiski K, Kettunen K, Demczko M, Stein R, Vatta M, Winder TL, Shohet A, Orenstein N, Krcho P, Bohuš P, Huovinen S, Udd B, Pelin K, Laing NG, Wallgren-Pettersson C. Lehtokari VL, et al. Among authors: vatta m. Neuromuscul Disord. 2024 Jan;34:32-40. doi: 10.1016/j.nmd.2023.11.009. Epub 2023 Nov 30. Neuromuscul Disord. 2024. PMID: 38142473 Free article.
Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease.
Gohlke J, Lindqvist J, Hourani Z, Heintzman S, Tonino P, Elsheikh B, Morales A, Vatta M, Burghes A, Granzier H, Roggenbuck J. Gohlke J, et al. Among authors: vatta m. Hum Mol Genet. 2024 Nov 20;33(23):2003-2023. doi: 10.1093/hmg/ddae136. Hum Mol Genet. 2024. PMID: 39277846 Free PMC article.
Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Matalon DR, Zepeda-Mendoza CJ, Aarabi M, Brown K, Fullerton SM, Kaur S, Quintero-Rivera F, Vatta M; ACMG Social, Ethical and Legal Issues Committee and the ACMG Diversity, Equity and Inclusion Committee. Electronic address: documents@acmg.net. Matalon DR, et al. Among authors: vatta m. Genet Med. 2023 Jun;25(6):100812. doi: 10.1016/j.gim.2023.100812. Epub 2023 Apr 14. Genet Med. 2023. PMID: 37058144 Free article. No abstract available.
Response to Widen et al.
Grebe TA, Khushf G, Greally JM, Turley P, Foyouzi N, Rabin-Havt S, Berkman B, Pope K, Vatta M, Kaur S. Grebe TA, et al. Among authors: vatta m. Genet Med. 2024 Aug;26(8):101156. doi: 10.1016/j.gim.2024.101156. Epub 2024 Jun 10. Genet Med. 2024. PMID: 38856722 No abstract available.
Clinical utility of polygenic risk scores for embryo selection: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Grebe TA, Khushf G, Greally JM, Turley P, Foyouzi N, Rabin-Havt S, Berkman BE, Pope K, Vatta M, Kaur S; ACMG Social, Ethical, and Legal Issues Committee. Grebe TA, et al. Among authors: vatta m. Genet Med. 2024 Apr;26(4):101052. doi: 10.1016/j.gim.2023.101052. Epub 2024 Feb 23. Genet Med. 2024. PMID: 38393332 No abstract available.
Real-World Genetic Testing Utilization Among Patients With Cardiomyopathy.
Morales A, Moretz C, Ren S, Smith E, Callis TE, Hall T, Hatchell KE, Nussbaum RL, Regalado E, Rojahn S, Vatta M, Esplin ED, Murillo J. Morales A, et al. Among authors: vatta m. Circ Genom Precis Med. 2024 Feb;17(1):e004028. doi: 10.1161/CIRCGEN.122.004028. Epub 2023 Dec 13. Circ Genom Precis Med. 2024. PMID: 38088168 No abstract available.
Genetic Architecture of Dilated Cardiomyopathy in Individuals of African and European Ancestry.
Jordan E, Kinnamon DD, Haas GJ, Hofmeyer M, Kransdorf E, Ewald GA, Morris AA, Owens A, Lowes B, Stoller D, Tang WHW, Garg S, Trachtenberg BH, Shah P, Pamboukian SV, Sweitzer NK, Wheeler MT, Wilcox JE, Katz S, Pan S, Jimenez J, Fishbein DP, Smart F, Wang J, Gottlieb SS, Judge DP, Moore CK, Mead JO, Hurst N, Cao J, Huggins GS, Cowan J, Ni H, Rehm HL, Jarvik GP, Vatta M, Burke W, Hershberger RE; DCM Precision Medicine Study of the DCM Consortium. Jordan E, et al. Among authors: vatta m. JAMA. 2023 Aug 1;330(5):432-441. doi: 10.1001/jama.2023.11970. JAMA. 2023. PMID: 37526719 Free PMC article.
224 results