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Page 1
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans.
Bouasker S, Patel N, Greenlees R, Wellesley D, Fares Taie L, Almontashiri NA, Baptista J, Alghamdi MA, Boissel S, Martinovic J, Prokudin I, Holden S, Mudhar HS, Riley LG, Nassif C, Attie-Bitach T, Miguet M, Delous M, Ernest S, Plaisancié J, Calvas P, Rozet JM, Khan AO, Hamdan FF, Jamieson RV, Alkuraya FS, Michaud JL, Chassaing N. Bouasker S, et al. Among authors: greenlees r. J Med Genet. 2023 Mar;60(3):294-300. doi: 10.1136/jmedgenet-2022-108475. Epub 2022 Jul 5. J Med Genet. 2023. PMID: 35790350
Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.
Greenlees R, Mihelec M, Yousoof S, Speidel D, Wu SK, Rinkwitz S, Prokudin I, Perveen R, Cheng A, Ma A, Nash B, Gillespie R, Loebel DA, Clayton-Smith J, Lloyd IC, Grigg JR, Tam PP, Yap AS, Becker TS, Black GC, Semina E, Jamieson RV. Greenlees R, et al. Hum Mol Genet. 2015 Oct 15;24(20):5789-804. doi: 10.1093/hmg/ddv298. Epub 2015 Jul 30. Hum Mol Genet. 2015. PMID: 26231217
ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.
Williams LB, Javed A, Sabri A, Morgan DJ, Huff CD, Grigg JR, Heng XT, Khng AJ, Hollink IHIM, Morrison MA, Owen LA, Anderson K, Kinard K, Greenlees R, Novacic D, Nida Sen H, Zein WM, Rodgers GM, Vitale AT, Haider NB, Hillmer AM, Ng PC, Shankaracharya, Cheng A, Zheng L, Gillies MC, van Slegtenhorst M, van Hagen PM, Missotten TOAR, Farley GL, Polo M, Malatack J, Curtin J, Martin F, Arbuckle S, Alexander SI, Chircop M, Davila S, Digre KB, Jamieson RV, DeAngelis MM. Williams LB, et al. Among authors: greenlees r. Genet Med. 2019 Sep;21(9):2103-2115. doi: 10.1038/s41436-019-0476-3. Epub 2019 Apr 10. Genet Med. 2019. PMID: 30967659 Free PMC article.
Trends in congenital anomalies in Europe from 1980 to 2012.
Morris JK, Springett AL, Greenlees R, Loane M, Addor MC, Arriola L, Barisic I, Bergman JEH, Csaky-Szunyogh M, Dias C, Draper ES, Garne E, Gatt M, Khoshnood B, Klungsoyr K, Lynch C, McDonnell R, Nelen V, Neville AJ, O'Mahony M, Pierini A, Queisser-Luft A, Randrianaivo H, Rankin J, Rissmann A, Kurinczuk J, Tucker D, Verellen-Dumoulin C, Wellesley D, Dolk H. Morris JK, et al. Among authors: greenlees r. PLoS One. 2018 Apr 5;13(4):e0194986. doi: 10.1371/journal.pone.0194986. eCollection 2018. PLoS One. 2018. PMID: 29621304 Free PMC article.
Prevalence of microcephaly in Europe: population based study.
Morris JK, Rankin J, Garne E, Loane M, Greenlees R, Addor MC, Arriola L, Barisic I, Bergman JE, Csaky-Szunyogh M, Dias C, Draper ES, Gatt M, Khoshnood B, Klungsoyr K, Kurinczuk JJ, Lynch C, McDonnell R, Nelen V, Neville AJ, O'Mahony MT, Pierini A, Randrianaivo H, Rissmann A, Tucker D, Verellen-Dumoulin C, de Walle HE, Wellesley D, Wiesel A, Dolk H. Morris JK, et al. Among authors: greenlees r. BMJ. 2016 Sep 13;354:i4721. doi: 10.1136/bmj.i4721. BMJ. 2016. PMID: 27623840 Free PMC article.
Use of hierarchical models to analyze European trends in congenital anomaly prevalence.
Cavadino A, Prieto-Merino D, Addor MC, Arriola L, Bianchi F, Draper E, Garne E, Greenlees R, Haeusler M, Khoshnood B, Kurinczuk J, McDonnell B, Nelen V, O'Mahony M, Randrianaivo H, Rankin J, Rissmann A, Tucker D, Verellen-Dumoulin C, de Walle H, Wellesley D, Morris JK. Cavadino A, et al. Among authors: greenlees r. Birth Defects Res A Clin Mol Teratol. 2016 Jun;106(6):480-8. doi: 10.1002/bdra.23515. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 27301561
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. Among authors: greenlees r. 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
23 results