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Page 1
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: sackey e. 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.
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: sackey e. 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.
Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts.
Mansour S, Josephs KS, Ostergaard P, Gordon K, Van Zanten M, Pearce J, Jeffery S, Keeley V, Riches K, Kreuter A, Wieland U, Hägerling R, Ratnam L, Sackey E, Grigoriadis D, Ho B, Smith F, Rauter E, Mortimer P, Macallan D. Mansour S, et al. Among authors: sackey e. J Med Genet. 2023 Jan;60(1):84-90. doi: 10.1136/jmedgenet-2021-107820. Epub 2021 Dec 16. J Med Genet. 2023. PMID: 34916230 Free PMC article.
Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort.
Grigoriadis D, Sackey E, Riches K, van Zanten M, Brice G, England R, Mills M, Dobbins SE, Lee LL; Lipoedema Consortium; Genomics England Research Consortium; Jeffery S, Dong L, Savage DB, Mortimer PS, Keeley V, Pittman A, Gordon K, Ostergaard P. Grigoriadis D, et al. Among authors: sackey e. PLoS One. 2022 Oct 13;17(10):e0274867. doi: 10.1371/journal.pone.0274867. eCollection 2022. PLoS One. 2022. PMID: 36227936 Free PMC article.
Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma.
Waseem NH, Low S, Shah AZ, Avisetti D, Ostergaard P, Simpson M, Niemiec KA, Martin-Martin B, Aldehlawi H, Usman S, Lee PS, Khawaja AP, Ruddle JB, Shah A, Sackey E, Day A, Jiang Y, Swinfield G, Viswanathan A, Alfano G, Chakarova C, Cordell HJ, Garway-Heath DF, Khaw PT, Bhattacharya SS, Waseem A, Foster PJ. Waseem NH, et al. Among authors: sackey e. PLoS Genet. 2020 Apr 27;16(4):e1008721. doi: 10.1371/journal.pgen.1008721. eCollection 2020 Apr. PLoS Genet. 2020. PMID: 32339198 Free PMC article.
U.S. Women with Invasive Cervical Cancer: Characteristics and Potential Barriers to Prevention.
Rosenblum HG, Gargano JW, Cleveland AA, Dahl RM, Park IU, Whitney E, Castilho JL, Sackey E, Niccolai LM, Brackney M, Debess E, Ehlers S, Bennett NM, Kurtz R, Unger ER, Markowitz LE. Rosenblum HG, et al. Among authors: sackey e. J Womens Health (Larchmt). 2024 Apr 12. doi: 10.1089/jwh.2023.0462. Online ahead of print. J Womens Health (Larchmt). 2024. PMID: 38608239
Short-changing the future: The systemic gap between psychology internship stipends and living wages.
Hood CO, Schick MR, Cusack SE, Fahey MC, Giff ST, Guty ET, Hellman N, Henry LM, Hinkson K, Long EE, McCoy K, O'Connor K, Wilborn AP, Reuben A, Sackey ET, Tilstra-Ferrell EL, Walters KJ, Witcraft SM. Hood CO, et al. Among authors: sackey et. Train Educ Prof Psychol. 2024 Feb;18(1):49-58. doi: 10.1037/tep0000449. Epub 2023 May 18. Train Educ Prof Psychol. 2024. PMID: 38464500
Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
Greene D; Genomics England Research Consortium; Pirri D, Frudd K, Sackey E, Al-Owain M, Giese APJ, Ramzan K, Riaz S, Yamanaka I, Boeckx N, Thys C, Gelb BD, Brennan P, Hartill V, Harvengt J, Kosho T, Mansour S, Masuno M, Ohata T, Stewart H, Taibah K, Turner CLS, Imtiaz F, Riazuddin S, Morisaki T, Ostergaard P, Loeys BL, Morisaki H, Ahmed ZM, Birdsey GM, Freson K, Mumford A, Turro E. Greene D, et al. Among authors: sackey e. Nat Med. 2023 Mar;29(3):679-688. doi: 10.1038/s41591-023-02211-z. Epub 2023 Mar 16. Nat Med. 2023. PMID: 36928819 Free PMC article.
14 results