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A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.
Hirsch Y, Tangshewinsirikul C, Booth KT, Azaiez H, Yefet D, Quint A, Weiden T, Brownstein Z, Macarov M, Davidov B, Pappas J, Rabin R, Kenna MA, Oza AM, Lafferty K, Amr SS, Rehm HL, Kolbe DL, Frees K, Nishimura C, Luo M, Farra C, Morton CC, Scher SY, Ekstein J, Avraham KB, Smith RJH, Shen J. Hirsch Y, et al. Among authors: quint a. Eur J Hum Genet. 2021 Jun;29(6):988-997. doi: 10.1038/s41431-020-00790-w. Epub 2021 Jan 4. Eur J Hum Genet. 2021. PMID: 33398081 Free PMC article.
An Ashkenazi founder mutation in the PKHD1 gene.
Quint A, Sagi M, Carmi S, Daum H, Macarov M, Ben Neriah Z, Meiner V, Elpeleg O, Lerer I. Quint A, et al. Eur J Med Genet. 2016 Feb;59(2):86-90. doi: 10.1016/j.ejmg.2015.12.013. Epub 2015 Dec 23. Eur J Med Genet. 2016. PMID: 26721323
Serologic Response to Vaccine for COVID-19 in Patients with Hematologic Malignancy: A Prospective Cohort Study.
Hillyer A, Quint A, Ghassemian A, Joh-Carnella N, Knauer MJ, Dawd D, Lazo-Langner A, Mangel J, Lam S, Abdoh H, Xenocostas A, Deotare U, Saini L, Foster C, Louzada M, Ho J, Chin-Yee I, Phua CW. Hillyer A, et al. Among authors: quint a. Clin Lymphoma Myeloma Leuk. 2024 May;24(5):305-315. doi: 10.1016/j.clml.2024.01.004. Epub 2024 Jan 18. Clin Lymphoma Myeloma Leuk. 2024. PMID: 38336492 Free article.
Growth-differentiation factor-15 for risk stratification in patients with stable and unstable coronary heart disease: results from the AtheroGene study.
Kempf T, Sinning JM, Quint A, Bickel C, Sinning C, Wild PS, Schnabel R, Lubos E, Rupprecht HJ, Münzel T, Drexler H, Blankenberg S, Wollert KC. Kempf T, et al. Among authors: quint a. Circ Cardiovasc Genet. 2009 Jun;2(3):286-92. doi: 10.1161/CIRCGENETICS.108.824870. Epub 2009 Mar 31. Circ Cardiovasc Genet. 2009. PMID: 20031597
Growth-differentiation factor-15 is an independent marker of cardiovascular dysfunction and disease in the elderly: results from the Prospective Investigation of the Vasculature in Uppsala Seniors (PIVUS) Study.
Lind L, Wallentin L, Kempf T, Tapken H, Quint A, Lindahl B, Olofsson S, Venge P, Larsson A, Hulthe J, Elmgren A, Wollert KC. Lind L, et al. Among authors: quint a. Eur Heart J. 2009 Oct;30(19):2346-53. doi: 10.1093/eurheartj/ehp261. Epub 2009 Jun 26. Eur Heart J. 2009. PMID: 19561023
28 results