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Year Number of Results
1991 1
1993 2
1994 3
1995 3
1996 2
1997 2
1998 6
1999 7
2000 3
2001 5
2002 4
2003 4
2004 7
2005 4
2006 5
2007 7
2008 10
2009 13
2010 11
2011 11
2012 11
2013 11
2014 7
2015 8
2016 3
2017 6
2018 2
2019 5
2020 5
2021 5
2022 12
2023 12
2024 17

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192 results

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Page 1
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
Marinakis NM, Svingou M, Veltra D, Kekou K, Sofocleous C, Tilemis FN, Kosma K, Tsoutsou E, Fryssira H, Traeger-Synodinos J. Marinakis NM, et al. Among authors: traeger synodinos j. Am J Med Genet A. 2021 Aug;185(8):2561-2571. doi: 10.1002/ajmg.a.62338. Epub 2021 May 19. Am J Med Genet A. 2021. PMID: 34008892
Pre-implantation genetic diagnosis.
Traeger-Synodinos J. Traeger-Synodinos J. Best Pract Res Clin Obstet Gynaecol. 2017 Feb;39:74-88. doi: 10.1016/j.bpobgyn.2016.10.010. Epub 2016 Oct 26. Best Pract Res Clin Obstet Gynaecol. 2017. PMID: 27856159 Review.
EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies.
Traeger-Synodinos J, Harteveld CL, Old JM, Petrou M, Galanello R, Giordano P, Angastioniotis M, De la Salle B, Henderson S, May A; EMQN haemoglobinopathies best practice meeting. Traeger-Synodinos J, et al. Eur J Hum Genet. 2015 Apr;23(4):426-37. doi: 10.1038/ejhg.2014.131. Epub 2014 Jul 23. Eur J Hum Genet. 2015. PMID: 25052315 Free PMC article.
Hemoglobinopathies and preimplantation diagnostics.
Mamas T, Kakourou G, Vrettou C, Traeger-Synodinos J. Mamas T, et al. Among authors: traeger synodinos j. Int J Lab Hematol. 2022 Sep;44 Suppl 1:21-27. doi: 10.1111/ijlh.13851. Epub 2022 Apr 20. Int J Lab Hematol. 2022. PMID: 35443077 Review.
Submitting Novel Globin Gene Variants to Hemoglobin.
Harteveld CL, Patrinos GP, Traeger-Synodinos J, Kountouris P, Bento C, Adekile A. Harteveld CL, et al. Among authors: traeger synodinos j. Hemoglobin. 2023 Nov;47(4):135-136. doi: 10.1080/03630269.2023.2258618. Epub 2023 Nov 3. Hemoglobin. 2023. PMID: 37920883 No abstract available.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Brunet T, Zott B, Lieftüchter V, Lenz D, Schmidt A, Peters P, Kopajtich R, Zaddach M, Zimmermann H, Hüning I, Ballhausen D, Staufner C, Bianzano A, Hughes J, Taylor RW, McFarland R, Devlin A, Mihaljević M, Barišić N, Rohlfs M, Wilfling S, Sondheimer N, Hewson S, Marinakis NM, Kosma K, Traeger-Synodinos J, Elbracht M, Begemann M, Trepels-Kottek S, Hasan D, Scala M, Capra V, Zara F, van der Ven AT, Driemeyer J, Apitz C, Krämer J, Strong A, Hakonarson H, Watson D, Mayr JA, Prokisch H, Meitinger T, Borggraefe I, Spiegler J, Baric I, Paolini M, Gerstl L, Wagner M. Brunet T, et al. Among authors: traeger synodinos j. Genet Med. 2024 Feb;26(2):101013. doi: 10.1016/j.gim.2023.101013. Epub 2023 Nov 1. Genet Med. 2024. PMID: 37924258
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Among authors: traeger synodinos j. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Prenatal and preimplantation diagnosis of hemoglobinopathies.
Vrettou C, Kakourou G, Mamas T, Traeger-Synodinos J. Vrettou C, et al. Among authors: traeger synodinos j. Int J Lab Hematol. 2018 May;40 Suppl 1:74-82. doi: 10.1111/ijlh.12823. Int J Lab Hematol. 2018. PMID: 29741247 Review.
Critical points for an accurate human genome analysis.
White SJ, Laros JFJ, Bakker E, Cambon-Thomsen A, Eden M, Leonard S, Lochmüller H, Matthijs G, Mattocks C, Patton S, Payne K, Scheffer H, Souche E, Thomassen E, Thompson R, Traeger-Synodinos J, Van Vooren S, Janssen B, den Dunnen JT. White SJ, et al. Among authors: traeger synodinos j. Hum Mutat. 2017 Aug;38(8):912-921. doi: 10.1002/humu.23238. Epub 2017 Jun 16. Hum Mutat. 2017. PMID: 28471515 Review.
192 results