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Page 1
Mutations in the U2 snRNA gene RNU2-2P cause a severe neurodevelopmental disorder with prominent epilepsy.
Greene D, De Wispelaere K, Lees J, Katrinecz A, Pascoal S, Hales E, Codina-Solà M, Valenzuela I, Tizzano EF, Atton G, Donnelly D, Foulds N, Jarvis J, McKee S, O'Donoghue M, Suri M, Vasudevan P, Stirrups K, Morgan NP, Freson K, Mumford AD, Turro E. Greene D, et al. Among authors: atton g. medRxiv [Preprint]. 2024 Sep 4:2024.09.03.24312863. doi: 10.1101/2024.09.03.24312863. medRxiv. 2024. PMID: 39281759 Free PMC article. Preprint.
Thresholds for adding degraded tropical forest to the conservation estate.
Ewers RM, Orme CDL, Pearse WD, Zulkifli N, Yvon-Durocher G, Yusah KM, Yoh N, Yeo DCJ, Wong A, Williamson J, Wilkinson CL, Wiederkehr F, Webber BL, Wearn OR, Wai L, Vollans M, Twining JP, Turner EC, Tobias JA, Thorley J, Telford EM, Teh YA, Tan HH, Swinfield T, Svátek M, Struebig M, Stork N, Sleutel J, Slade EM, Sharp A, Shabrani A, Sethi SS, Seaman DJI, Sawang A, Roxby GB, Rowcliffe JM, Rossiter SJ, Riutta T, Rahman H, Qie L, Psomas E, Prairie A, Poznansky F, Pillay R, Picinali L, Pianzin A, Pfeifer M, Parrett JM, Noble CD, Nilus R, Mustaffa N, Mullin KE, Mitchell S, Mckinlay AR, Maunsell S, Matula R, Massam M, Martin S, Malhi Y, Majalap N, Maclean CS, Mackintosh E, Luke SH, Lewis OT, Layfield HJ, Lane-Shaw I, Kueh BH, Kratina P, Konopik O, Kitching R, Kinneen L, Kemp VA, Jotan P, Jones N, Jebrail EW, Hroneš M, Heon SP, Hemprich-Bennett DR, Haysom JK, Harianja MF, Hardwick J, Gregory N, Gray R, Gray REJ, Granville N, Gill R, Fraser A, Foster WA, Folkard-Tapp H, Fletcher RJ, Fikri AH, Fayle TM, Faruk A, Eggleton P, Edwards DP, Drinkwater R, Dow RA, Döbert TF, Didham RK, Dickinson KJM, Deere NJ, de Lorm T, Dawood MM, Davison CW, Davies ZG, Davies RG, Dančák M, Cusack J, Clare EL, Ch… See abstract for full author list ➔ Ewers RM, et al. Among authors: atton g. Nature. 2024 Jul;631(8022):808-813. doi: 10.1038/s41586-024-07657-w. Epub 2024 Jul 17. Nature. 2024. PMID: 39020163 Free PMC article.
Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature.
Gazdagh G, Hunt D, Gonzalez AMC, Rodriguez MP, Chaudhry A, Madruga M, Vansenne F, Shears D, Curie A, Stattin EL, Anderlid BM, Trajkova S, Angelovska ES, McWilliam C, Wyatt PR, O'Driscoll M, Atton G, Bergman AK, Zacher P, Mewasingh LD, López AG, Alonso-Luengo O, Wai HA, Rohde O, Boiroux P, Debant A, Schmidt S, Baralle D. Gazdagh G, et al. Among authors: atton g. Am J Med Genet A. 2023 Jul;191(7):1722-1740. doi: 10.1002/ajmg.a.63194. Epub 2023 Mar 29. Am J Med Genet A. 2023. PMID: 36987741 Review.
Correction: Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Martin-Almedina S, Ogmen K, Sackey E, Grigoriadis D, Karapouliou C, Nadarajah N, Ebbing C, Lord J, Mellis R, Kortuem F, Dinulos MB, Polun C, Bale S, Atton G, Robinson A, Reigstad H, Houge G, von der Wense A, Becker WH, Jeffery S, Mortimer PS, Gordon K, Josephs KS, Robart S, Kilby MD, Vallee S, Gorski JL, Hempel M, Berland S, Mansour S, Ostergaard P. Martin-Almedina S, et al. Among authors: atton g. Genet Med. 2021 Jul;23(7):1376-1377. doi: 10.1038/s41436-021-01202-0. Genet Med. 2021. PMID: 34040196 Free PMC article. No abstract available.
Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Martin-Almedina S, Ogmen K, Sackey E, Grigoriadis D, Karapouliou C, Nadarajah N, Ebbing C, Lord J, Mellis R, Kortuem F, Dinulos MB, Polun C, Bale S, Atton G, Robinson A, Reigstad H, Houge G, von der Wense A, Becker WH, Jeffery S, Mortimer PS, Gordon K, Josephs KS, Robart S, Kilby MD, Vallee S, Gorski JL, Hempel M, Berland S, Mansour S, Ostergaard P. Martin-Almedina S, et al. Among authors: atton g. Genet Med. 2021 Jul;23(7):1315-1324. doi: 10.1038/s41436-021-01136-7. Epub 2021 Apr 16. Genet Med. 2021. PMID: 33864021 Free PMC article.
Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Fotiou E, Martin-Almedina S, Simpson MA, Lin S, Gordon K, Brice G, Atton G, Jeffery I, Rees DC, Mignot C, Vogt J, Homfray T, Snyder MP, Rockson SG, Jeffery S, Mortimer PS, Mansour S, Ostergaard P. Fotiou E, et al. Among authors: atton g. Nat Commun. 2019 Apr 26;10(1):1951. doi: 10.1038/s41467-019-09905-4. Nat Commun. 2019. PMID: 31028252 Free PMC article.
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.
Martin-Almedina S, Martinez-Corral I, Holdhus R, Vicente A, Fotiou E, Lin S, Petersen K, Simpson MA, Hoischen A, Gilissen C, Jeffery H, Atton G, Karapouliou C, Brice G, Gordon K, Wiseman JW, Wedin M, Rockson SG, Jeffery S, Mortimer PS, Snyder MP, Berland S, Mansour S, Makinen T, Ostergaard P. Martin-Almedina S, et al. Among authors: atton g. J Clin Invest. 2016 Aug 1;126(8):3080-8. doi: 10.1172/JCI85794. Epub 2016 Jul 11. J Clin Invest. 2016. PMID: 27400125 Free PMC article.
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
Fotiou E, Martin-Almedina S, Simpson MA, Lin S, Gordon K, Brice G, Atton G, Jeffery I, Rees DC, Mignot C, Vogt J, Homfray T, Snyder MP, Rockson SG, Jeffery S, Mortimer PS, Mansour S, Ostergaard P. Fotiou E, et al. Among authors: atton g. Nat Commun. 2015 Sep 3;6:8085. doi: 10.1038/ncomms9085. Nat Commun. 2015. PMID: 26333996 Free PMC article.