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Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early Onset Atrial Fibrillation.
Goodyer WR, Dunn K, Caleshu C, Jackson M, Wylie J, Moscarello T, Platt J, Reuter C, Smith A, Trela A, Ceresnak SR, Motonaga KS, Ashley E, Yang P, Dubin AM, Perez M. Goodyer WR, et al. Among authors: platt j. Circ Genom Precis Med. 2019 Nov;12(11):e002713. doi: 10.1161/CIRCGEN.119.002713. Epub 2019 Oct 22. Circ Genom Precis Med. 2019. PMID: 31638414 Free PMC article. No abstract available.
Clinical whole-exome sequencing: are we there yet?
Atwal PS, Brennan ML, Cox R, Niaki M, Platt J, Homeyer M, Kwan A, Parkin S, Schelley S, Slattery L, Wilnai Y, Bernstein JA, Enns GM, Hudgins L. Atwal PS, et al. Among authors: platt j. Genet Med. 2014 Sep;16(9):717-9. doi: 10.1038/gim.2014.10. Epub 2014 Feb 13. Genet Med. 2014. PMID: 24525916 Free article.
Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study.
Morales A, Kinnamon DD, Jordan E, Platt J, Vatta M, Dorschner MO, Starkey CA, Mead JO, Ai T, Burke W, Gastier-Foster J, Jarvik GP, Rehm HL, Nickerson DA, Hershberger RE; DCM Precision Medicine study of the DCM Consortium; DCM Consortium institutions and personnel participating in this study: Study Principal Investigator and Co-Investigators,DCM Consortium Clinical Site Principal Investigators and Clinical Site Other Significant Contributors (OSC). The following clinical sites and individuals contributed to the submission of RO 1 H L 128857 as Site Principal Investigators (Site Pl) or as Other Significant Contributors (OSC),Dr. Huggins also served as study co-principal investigator,The following clinical site was added following approval of NHGRI supplemental funding but prior to initiation of enrollment,The following clinical sites were added following study activation. Morales A, et al. Among authors: platt j. Circ Genom Precis Med. 2020 Apr;13(2):e002480. doi: 10.1161/CIRCGEN.119.002480. Epub 2020 Mar 11. Circ Genom Precis Med. 2020. PMID: 32160020 Free PMC article.
Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms.
Lindholm ME, Jimenez-Morales D, Zhu H, Seo K, Amar D, Zhao C, Raja A, Madhvani R, Abramowitz S, Espenel C, Sutton S, Caleshu C, Berry GJ, Motonaga KS, Dunn K, Platt J, Ashley EA, Wheeler MT. Lindholm ME, et al. Among authors: platt j. Circ Genom Precis Med. 2021 Dec;14(6):e003419. doi: 10.1161/CIRCGEN.121.003419. Epub 2021 Nov 22. Circ Genom Precis Med. 2021. PMID: 34802252 Free PMC article.
An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy.
Hawley MH, Almontashiri N, Biesecker LG, Berger N, Chung WK, Garcia J, Grebe TA, Kelly MA, Lebo MS, Macaya D, Mei H, Platt J, Richard G, Ryan A, Thomson KL, Vatta M, Walsh R, Ware JS, Wheeler M, Zouk H, Mason-Suares H, Funke B. Hawley MH, et al. Among authors: platt j. Hum Mutat. 2020 Sep;41(9):1577-1587. doi: 10.1002/humu.24061. Epub 2020 Jun 24. Hum Mutat. 2020. PMID: 32516855 Free PMC article.
1,257 results