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Page 1
Amniotic band syndrome and limb body wall complex in Europe 1980-2019.
Bergman JEH, Barišić I, Addor MC, Braz P, Cavero-Carbonell C, Draper ES, Echevarría-González-de-Garibay LJ, Gatt M, Haeusler M, Khoshnood B, Klungsøyr K, Kurinczuk JJ, Latos-Bielenska A, Luyt K, Martin D, Mullaney C, Nelen V, Neville AJ, O'Mahony MT, Perthus I, Pierini A, Randrianaivo H, Rankin J, Rissmann A, Rouget F, Sayers G, Schaub B, Stevens S, Tucker D, Verellen-Dumoulin C, Wiesel A, Gerkes EH, Perraud A, Loane MA, Wellesley D, de Walle HEK. Bergman JEH, et al. Among authors: o mahony mt. Am J Med Genet A. 2023 Apr;191(4):995-1006. doi: 10.1002/ajmg.a.63107. Epub 2022 Dec 30. Am J Med Genet A. 2023. PMID: 36584346
Congenital anomalies associated with trisomy 18 or trisomy 13: A registry-based study in 16 European countries, 2000-2011.
Springett A, Wellesley D, Greenlees R, Loane M, Addor MC, Arriola L, Bergman J, Cavero-Carbonell C, Csaky-Szunyogh M, Draper ES, Garne E, Gatt M, Haeusler M, Khoshnood B, Klungsoyr K, Lynch C, Dias CM, McDonnell R, Nelen V, O'Mahony M, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Rounding C, Stoianova S, Tuckerz D, Zymak-Zakutnia N, Morris JK. Springett A, et al. Am J Med Genet A. 2015 Dec;167A(12):3062-9. doi: 10.1002/ajmg.a.37355. Epub 2015 Sep 8. Am J Med Genet A. 2015. PMID: 26347425
Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study.
Garne E, Rissmann A, Addor MC, Barisic I, Bergman J, Braz P, Cavero-Carbonell C, Draper ES, Gatt M, Haeusler M, Klungsoyr K, Kurinczuk JJ, Lelong N, Luyt K, Lynch C, O'Mahony MT, Mokoroa O, Nelen V, Neville AJ, Pierini A, Randrianaivo H, Rankin J, Rouget F, Schaub B, Tucker D, Verellen-Dumoulin C, Wellesley D, Wiesel A, Zymak-Zakutnia N, Lanzoni M, Morris JK. Garne E, et al. Eur J Med Genet. 2018 Sep;61(9):483-488. doi: 10.1016/j.ejmg.2018.05.010. Epub 2018 May 10. Eur J Med Genet. 2018. PMID: 29753093
Prevalence of valproate syndrome in Europe from 2005 to 2014: A registry based multi-centre study.
Morris JK, Garne E, Loane M, Addor MC, Barisic I, Bianchi F, Gatt M, Lanzoni M, Lynch C, Mokoroa O, Nelen V, Neville A, O'Mahony MT, Randrianaivo-Ranjatoelina H, Rissmann A, Tucker D, de Walle HEK, Zymak-Zakutnia N, Rankin J. Morris JK, et al. Eur J Med Genet. 2018 Sep;61(9):479-482. doi: 10.1016/j.ejmg.2018.05.008. Epub 2018 May 18. Eur J Med Genet. 2018. PMID: 29753923
Congenital clubfoot in Europe: A population-based study.
Wang H, Barisic I, Loane M, Addor MC, Bailey LM, Gatt M, Klungsoyr K, Mokoroa O, Nelen V, Neville AJ, O'Mahony M, Pierini A, Rissmann A, Verellen-Dumoulin C, de Walle HEK, Wiesel A, Wisniewska K, de Jong-van den Berg LTW, Dolk H, Khoshnood B, Garne E. Wang H, et al. Am J Med Genet A. 2019 Apr;179(4):595-601. doi: 10.1002/ajmg.a.61067. Epub 2019 Feb 10. Am J Med Genet A. 2019. PMID: 30740879
Epidemiology of achondroplasia: A population-based study in Europe.
Coi A, Santoro M, Garne E, Pierini A, Addor MC, Alessandri JL, Bergman JEH, Bianchi F, Boban L, Braz P, Cavero-Carbonell C, Gatt M, Haeusler M, Klungsøyr K, Kurinczuk JJ, Lanzoni M, Lelong N, Luyt K, Mokoroa O, Mullaney C, Nelen V, Neville AJ, O'Mahony MT, Perthus I, Rankin J, Rissmann A, Rouget F, Schaub B, Tucker D, Wellesley D, Wisniewska K, Zymak-Zakutnia N, Barišić I. Coi A, et al. Am J Med Genet A. 2019 Sep;179(9):1791-1798. doi: 10.1002/ajmg.a.61289. Epub 2019 Jul 11. Am J Med Genet A. 2019. PMID: 31294928
Twenty-year trends in the prevalence of Down syndrome and other trisomies in Europe: impact of maternal age and prenatal screening.
Loane M, Morris JK, Addor MC, Arriola L, Budd J, Doray B, Garne E, Gatt M, Haeusler M, Khoshnood B, Klungsøyr Melve K, Latos-Bielenska A, McDonnell B, Mullaney C, O'Mahony M, Queisser-Wahrendorf A, Rankin J, Rissmann A, Rounding C, Salvador J, Tucker D, Wellesley D, Yevtushok L, Dolk H. Loane M, et al. Eur J Hum Genet. 2013 Jan;21(1):27-33. doi: 10.1038/ejhg.2012.94. Epub 2012 Jun 20. Eur J Hum Genet. 2013. PMID: 22713804 Free PMC article.
Recent decrease in the prevalence of congenital heart defects in Europe.
Khoshnood B, Loane M, Garne E, Addor MC, Arriola L, Bakker M, Barisic I, Bianca S, Boyd P, Calzolari E, Doray B, Draper E, Gatt M, Haeusler M, Melve KK, Latos-Bielenska A, McDonnell B, Mullaney C, Nelen V, O'Mahony M, Pierini A, Queisser-Luft A, Randrianaivo H, Rankin J, Rissmann A, Salvador J, Tucker D, Verellen-Dumoulin C, Wellesley D, Zymak-Zakutnya N, Dolk H. Khoshnood B, et al. J Pediatr. 2013 Jan;162(1):108-13.e2. doi: 10.1016/j.jpeds.2012.06.035. Epub 2012 Jul 24. J Pediatr. 2013. PMID: 22835879
Hirschsprung's disease prevalence in Europe: a register based study.
Best KE, Addor MC, Arriola L, Balku E, Barisic I, Bianchi F, Calzolari E, Curran R, Doray B, Draper E, Garne E, Gatt M, Haeusler M, Bergman J, Khoshnood B, Klungsoyr K, Martos C, Materna-Kiryluk A, Matias Dias C, McDonnell B, Mullaney C, Nelen V, O'Mahony M, Queisser-Luft A, Randrianaivo H, Rissmann A, Rounding C, Sipek A, Thompson R, Tucker D, Wellesley D, Zymak-Zakutnia N, Rankin J. Best KE, et al. Birth Defects Res A Clin Mol Teratol. 2014 Sep;100(9):695-702. doi: 10.1002/bdra.23269. Epub 2014 Jul 26. Birth Defects Res A Clin Mol Teratol. 2014. PMID: 25066220
Major congenital anomalies in babies born with Down syndrome: a EUROCAT population-based registry study.
Morris JK, Garne E, Wellesley D, Addor MC, Arriola L, Barisic I, Beres J, Bianchi F, Budd J, Dias CM, Gatt M, Klungsoyr K, Khoshnood B, Latos-Bielenska A, Mullaney C, Nelen V, Neville AJ, O'Mahony M, Queisser-Luft A, Randrianaivo H, Rankin J, Rissmann A, Rounding C, Sipek A, Stoianova S, Tucker D, de Walle H, Yevtushok L, Loane M, Dolk H. Morris JK, et al. Am J Med Genet A. 2014 Dec;164A(12):2979-86. doi: 10.1002/ajmg.a.36780. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25257471
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