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Year Number of Results
1993 1
2000 2
2003 2
2004 1
2006 2
2012 1
2013 2
2015 1
2016 5
2017 3
2018 3
2019 5
2020 6
2021 2
2022 3
2023 4
2024 4

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44 results

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Page 1
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G, Sultan T, Toosi MB, Sedighzadeh S, Siu VM, Ortigoza-Escobar JD, AlShamsi AM, Ibrahim S, Al-Sannaa NA, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore DL, Martínez-González MJ, Levandoski KM, Bedoukian E, Madan-Khetarpal S, Idleburg MJ, Menezes MJ, Siddharth A, Platzer K, Oppermann H, Smitka M, Collins F, Lek M, Shahrooei M, Ghavideldarestani M, Herman I, Rendu J, Faure J, Baker J, Bhambhani V, Calderwood L, Akhondian J, Imannezhad S, Mirzadeh HS, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati PN, Abedini S, Salpietro V, Gulec EY, Eshaghian S, Ghazavi M, Pascher MT, Vogel M, Abicht A, Moutton S, Bruel AL, Rieubland C, Gallati S, Strom TM, Lochmüller H, Mohammadi MH, Alvi JR, Zackai EH, Keena BA, Skraban CM, Berger SI, Andrew EH, Rahimian E, Morrow MM, Wentzensen IM, Millan F, Henderson LB, Dafsari HS, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis NM, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke JR, Melki J, Benezit A, Bauer P, Weis D, Lupski JR, Senderek J, Christodoulou J, Chung WK, Goodchild R, Offiah AC, Moreno-De-Luca A, Suri M, Ebrahimi-Fak… See abstract for full author list ➔ Saffari A, et al. Among authors: gomez ospina n. Brain. 2023 Aug 1;146(8):3273-3288. doi: 10.1093/brain/awad039. Brain. 2023. PMID: 36757831 Free PMC article.
A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells.
Vakulskas CA, Dever DP, Rettig GR, Turk R, Jacobi AM, Collingwood MA, Bode NM, McNeill MS, Yan S, Camarena J, Lee CM, Park SH, Wiebking V, Bak RO, Gomez-Ospina N, Pavel-Dinu M, Sun W, Bao G, Porteus MH, Behlke MA. Vakulskas CA, et al. Among authors: gomez ospina n. Nat Med. 2018 Aug;24(8):1216-1224. doi: 10.1038/s41591-018-0137-0. Epub 2018 Aug 6. Nat Med. 2018. PMID: 30082871 Free PMC article.
High-efficiency transgene integration by homology-directed repair in human primary cells using DNA-PKcs inhibition.
Selvaraj S, Feist WN, Viel S, Vaidyanathan S, Dudek AM, Gastou M, Rockwood SJ, Ekman FK, Oseghale AR, Xu L, Pavel-Dinu M, Luna SE, Cromer MK, Sayana R, Gomez-Ospina N, Porteus MH. Selvaraj S, et al. Among authors: gomez ospina n. Nat Biotechnol. 2024 May;42(5):731-744. doi: 10.1038/s41587-023-01888-4. Epub 2023 Aug 3. Nat Biotechnol. 2024. PMID: 37537500
Genome Editing for Mucopolysaccharidoses.
Poletto E, Baldo G, Gomez-Ospina N. Poletto E, et al. Among authors: gomez ospina n. Int J Mol Sci. 2020 Jan 13;21(2):500. doi: 10.3390/ijms21020500. Int J Mol Sci. 2020. PMID: 31941077 Free PMC article. Review.
Gene Editing on Center Stage.
Bak RO, Gomez-Ospina N, Porteus MH. Bak RO, et al. Among authors: gomez ospina n. Trends Genet. 2018 Aug;34(8):600-611. doi: 10.1016/j.tig.2018.05.004. Epub 2018 Jun 13. Trends Genet. 2018. PMID: 29908711 Review.
Arylsulfatase A Deficiency.
Gomez-Ospina N. Gomez-Ospina N. 2006 May 30 [updated 2024 Apr 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2006 May 30 [updated 2024 Apr 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301309 Free Books & Documents. Review.
Molecular and clinical spectra of FBXL4 deficiency.
El-Hattab AW, Dai H, Almannai M, Wang J, Faqeih EA, Al Asmari A, Saleh MAM, Elamin MAO, Alfadhel M, Alkuraya FS, Hashem M, Aldosary MS, Almass R, Almutairi FB, Alsagob M, Al-Owain M, Al-Sharfa S, Al-Hassnan ZN, Rahbeeni Z, Al-Muhaizea MA, Makhseed N, Foskett GK, Stevenson DA, Gomez-Ospina N, Lee C, Boles RG, Schrier Vergano SA, Wortmann SB, Sperl W, Opladen T, Hoffmann GF, Hempel M, Prokisch H, Alhaddad B, Mayr JA, Chan W, Kaya N, Wong LC. El-Hattab AW, et al. Among authors: gomez ospina n. Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6. Hum Mutat. 2017. PMID: 28940506 Review.
CNS Repopulation by Hematopoietic-Derived Microglia-Like Cells Corrects Progranulin deficiency.
Colella P, Sayana R, Suarez-Nieto MV, Sarno J, Nyame K, Xiong J, Vera LNP, Basurto JA, Corbo M, Limaye A, Davis KL, Abu-Remaileh M, Gomez-Ospina N. Colella P, et al. Among authors: gomez ospina n. Res Sq [Preprint]. 2023 Sep 12:rs.3.rs-3263412. doi: 10.21203/rs.3.rs-3263412/v1. Res Sq. 2023. Update in: Nat Commun. 2024 Jul 5;15(1):5654. doi: 10.1038/s41467-024-49908-4. PMID: 37790525 Free PMC article. Updated. Preprint.
Respiratory system involvement in Costello syndrome.
Gomez-Ospina N, Kuo C, Ananth AL, Myers A, Brennan ML, Stevenson DA, Bernstein JA, Hudgins L. Gomez-Ospina N, et al. Am J Med Genet A. 2016 Jul;170(7):1849-57. doi: 10.1002/ajmg.a.37655. Epub 2016 Apr 22. Am J Med Genet A. 2016. PMID: 27102959 Free PMC article.
44 results