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Featured Publications

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All Publications

Preprints under revision​

  • Greene D, Mendez R, Lees J, Barbosa M, Bruselles A, Chiriatti L, Mancini C, Bertini ES, Bonner DE, Cassini TA, Ezell KM, Gomez-Ospina N, Rives L, Shashi V, Spillmann RC, Wafik M, Tartaglia M, Bernstein JA, Mumford AD, Wheeler MT, Turro E. Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder. medRxiv [Preprint]. 2025 Aug 29:2025.08.26.25334179. doi: 10.1101/2025.08.26.25334179. PMID: 40909831.

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  • Gomez-Ospina N, Pimentel Vera L, Gastou M, Colella P, Basurto JA, Feng A., Lin Y, Zhao X, Sun Y. Autologous genome-edited hematopoietic stem cells correct Gaucher disease and establish a platform for clinical translation. Research Square [Preprint]. Under review at Nature Communications. 2025 Aug 18:rs.3.rs-7123212. doi: 10.21203/rs.3.rs-7123212/v1. PMID: 40894035.

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  • Gomez-Ospina N, Cho H, Sayana R, Koladiya1 A, Colella P, Cho S, Jahng J, Wu J. Myeloid Cell Replacement Therapy Improves Function in Friedreich Ataxia Mice by Intercellular Mitochondrial Transfer. Research Square [Preprint]. Under review at Nature Metabolism. 2025 Feb 11. doi: 10.21203/rs.3.rs-5932916/v1.​

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​2024

  • Vanbelleghem E, Van Damme T, Beyens A, Symoens S, Claes K, De Backer J, Meerschaut I, Vanommeslaeghe  F, Delanghe S, Van den Ende J, Beyltjens T, Scimone E, Lindsay M, Schimmenti L, Hinze A, Dunn E, Gomez-Ospina N, Vandernoot I, Delguste T, Coppens S, Cormier-Daire V, Tartaglia M, Garavelli L, Shieh J, Demir S, Ates E, Zenker, M, Rohanizadegan M, Rivera-Cruz G, Houge S, Lin A, Callewaert B. Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations. Eur J Hum Genet. 2024: 1539-1540. doi: 10.1038/s41431-024-01664-1. PMID: 38997468.​

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  • Colella P. Sayana R, Suarez-Nieto MV, Sarno J, Nyame K, Xiong J, Pimentel Vera LN, Arozqueta Basurto J, Corbo M, Limaye A, Davis KL, Abu-Remaileh M, Gomez-Ospina N. CNS-wide repopulation by hematopoietic-derived microglia-like cells corrects progranulin deficiency in mice. Nature communications. 2024; 15 (1): 5654. doi: 10.1038/s41467-024-49908-4. PMID: 38969669.

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  • Gomez-Ospina N. Arylsulfatase A Deficiency. Editors: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A. GeneReviews. 1993-2024. PMID: 20301309.

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2023

  • 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. High-efficiency transgene integration by homology-directed repair in human primary cells using DNA-PKcs inhibition. Nature biotechnology. 2023. doi: 10.1038/s41587-023-01888-4. PMID: 37537500.

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  • Colella P, Meneghini V, Baldo G, Gomez-Ospina N. Editorial: Ex-vivo and in-vivo genome engineering for metabolic and neurometabolic diseases. Frontiers in genome editing. 2023; 5: 1248904. doi: 10.3389/fgeed.2023.1248904. PMID: 37484653

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  • Saffari A, Lau T, Tajsharghi H, Karimiani EG, Kariminejad A, Efthymiou S, Zifarelli G Sultan T, Toosi M B, Sedighzadeh S, Siu V M, Ortigoza-Escobar JD, Al-Shamsi AM, Ibrahim S, Al-Sannaa N A, Al-Hertani W, Sandra W, Tarnopolsky M, Alavi S, Li C, Day-Salvatore D L, Martínez-González MJ, Levandoski, K M, Bedoukian, E, Madan-Khetarpal S, Idleburg M J, Menezes M J, 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 H S, Hashemi N, Doosti M, Safi M, Ahangari N, Torbati P N, Abedini S, Salpietro V, Gulec E Y, Eshaghian S, Ghazavi M, Pascher M T, Vogel M, Abicht A, Moutton S, Bruel A L, Rieubland C, Gallati S, Strom T M, Lochmüller H, Mohammadi M H, Alvi J R, Zackai E H, Keena B A, Skraban C M, Berger S I, Andrew H E, Rahimian E, Morrow M M, Wentzensen I M, Millan F, Henderson L B, Dafsari H S, Jungbluth H, Gomez-Ospina N, McRae A, Peter M, Veltra D, Marinakis N M, Sofocleous C, Ashrafzadeh F, Pehlivan D, Lemke J R, Melki J, Benezit A, Bauer P, Weis D, Lupski J R, Senderek J, Christodoulou J, Chung W K, Goodchild R, Offiah A C, Moreno-De-Luca A, Mohnish S Ebrahimi-Fakhari D, Houlden H, Maroofian R. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain : a journal of neurology. 2023. doi: 10.1093/brain/awad039. PMID 36757831.

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2022

  • Shimada S, Ng BG, White AL, Nickander KK, Turgeon C, Liedtke KL, Lam CT, Font-Montgomery E, Lourenco CM, He M, Peck DS, Umana LA, Uhles CL, Haynes D, Wheeler PG, Bamshad MJ, Nickerson DA, Cushing T, Gates R, Gomez-Ospina N, Byers HM, UW Center for Mendelian Genomics Scalco FB, Martinez NN, Sachdev R, Smith L, Poduri A, Malone S, Harris RV, Scheffer IE, Rosenzweig SD, Adams DR, Gahl WA, Malicdan MC, Raymond KM, Freeze HH, Wolfe LA, Bamshad MJ, Nickerson DA, Anderson P, Bacus TJ, Blue EE, Brower K, Buckingham K, J, Chong JX, Davis CP, Davis CJ, Frazar CD, Gomeztagle-Burgess K, Gordon WW, Horike-Pyne M, Hurless JR, Jarvik GP, Johanson E, Thomas Kolar J, Marvin CT, McGee S, McGoldrick DJ, Mekonnen B, Nielsen PM, Patterson K, Radhakrishnan A, Richardson MA, Roote GT, Ryke EL, Shively KM, Smith JD, Tackett M, Weiss JM, Wheeler MM, Yi Q, Zhang X. Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation. Journal of medical genetics. 2022. doi: 10.1136/jmedgenet-2021-108177. PMID: 35790351.

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  • Poletto E, Colella P, Pimentel Vera LN, Khan S, Tomatsu S, Baldo G, Gomez-Ospina N. Improved engraftment and therapeutic efficacy by human genome-edited hematopoietic stem cells with Busulfan-based myeloablation. Mol Ther Methods Clin Dev. 2022; 25: 392-409. doi: 10.1016/j.omtm.2022.04.009. PMID: 35573043.

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  • Morales JA, Valenzuela I, Cusco I, Cogne B, Isidor B, Matalon DR, Gomez-Ospina N. Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant. American journal of medical genetics. 2022. doi: 10.1002/ajmg.a.62648.  PMID: 35018708.

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2021

  • Okur V, Chen Z, Vossaert L, Peacock S, Rosenfeld J, Zhao L, Du H, Calamaro E, Gerard A, Zhao S, Kelsay J, Lahr A, Mighton C, Porter HM, Siemon A, Silver J, Svihovec S, Fong C, Grant CL, Lerner-Ellis J, Manickam K, Madan-Khetarpal S, McCandless SE, Morel CF, Schaefer GB, Berry-Kravis EM, Gates R, Gomez-Ospina N, Qiu G, Zhang TJ, Wu Z, Meng L, Liu P, Scott DA, Lupski JR, Eng CM, Wu N, Yuan B. De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities. NPJ genomic medicine. 2021; 6 (1): 104. doi: 10.1038/s41525-021-00268-8. PMID: 34876591.

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  • Yabumoto, M, Kianmahd J, Singh, M, Palafox MF, Wei A, Elliott K, Goodloe DH, Dean SJ, Gooch C, Murray BK, Swartz E, Schrier Vergano SA, Towne MC, Nugent K, Roeder ER, Kresge C, Pletcher BA, Grand K, Graham JM, Gates R, Gomez-Ospina N, Ramanathan S, Clark RD, Glaser K, Benke PJ, Cohen JS, Fatemi A, Mu W, Baranano KW, Madden JA, Gubbels CS, Yu TW, Agrawal PB, Chambers M, Phornphutkul C, Pugh JA, Tauber KA, Azova S, Smith JR, O'Donnell-Luria A, Medsker H, Srivastava S, Krakow D, Schweitzer DN, Arboleda VA. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Molecular genetics & genomic medicine. 2021: e1809. doi: 10.1002/mgg3.1809. PMID: 34519438.

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2020​

  • Scharenberg SG, Poletto E, Lucot KL, Colella P, Sheikali A, Montine TJ, Porteus MH, Gomez-Ospina N. Engineering monocyte/macrophage-specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing. Nature Communications. 2020 Jul 3;11(1):3327. doi: 10.1038/s41467-020-17148-x. PMID: 32620863.​

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  • Veltman TR, Tsai CJ, Gomez-Ospina N, Kanan M, Chu G. Point-of-care analysis of blood ammonia with a gas-phase sensor. ACS sensors.  2020 Aug 28;5(8):2415-2421. doi: 10.1021/acssensors.0c00480. Epub 2020 Jun 30. PMID: 32538083.​

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  • Kripps K, Nakayuenyongsuk W, Shayota BJ, Berquist W, Gomez-Ospina N, Esquivel CO, Concepcion W, Sampson JB, Cristin DJ, Jackson WE, Gilliland S, Pomfret EA, Kueht ML, Pettit RW, Sherif YA, Emrick LT, Elsea SH, Himes R, Hirano M, Van Hove JLK, Scaglia F, Enns GM, Larson AA. Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Molecular Genetics and Metabolism. 2020 Mar 6. pii: S1096-7192(20)30060-3. doi: 10.1016/j.ymgme.2020.03.001. PMID: 32173240.

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  • Poletto E, Baldo G, Gomez-Ospina N.  Genome Editing for Mucopolysaccharidoses. Int J Mol Sci. 2020 Jan 13;21(2). PMID: 31941077.

 

2019​​​

  • Gomez-Ospina N, Scharenberg SG, Mostrel N, Bak RO, Mantri S, Quadros RM, Gurumurthy CB, Lee C, Bao G, Suarez CJ, Khan S, Sawamoto K, Tomatsu S, Raj N, Attardi LD, Aurelian L, Porteus MH. Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I. Nature Communications. 2019 Sep 6;10(1):4045. PMID:31492863.

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  • Van Dijk SJ, Domenighetti AA, Gomez-Ospina N, Hunter P, Lindemans CA, Melotte V, Van Rossum AMC, Rosenblum ND. Building a Professional Identity and an Academic Career Track in Translational Medicine. Front Med (Lausanne). 2019 Jul 3;6:151. 

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  • Blackburn ATM, Bekheirnia N, Uma VC, Corkins ME, Xu Y, Rosenfeld JA, Bainbridge MN, Yang Y, Liu P, Madan-Khetarpal S, Delgado MR, Hudgins L, Krantz I, Rodriguez-Buritica D, Wheeler PG, Al-Gazali L, Mohamed Saeed Mohamed Al Shamsi A, Gomez-Ospina N, Chao HT, Mirzaa GM, Scheuerle AE, Kukolich MK, Scaglia F, Eng C, Willsey HR, Braun MC, Lamb DJ, Miller RK, Bekheirnia MR. DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract. Genet Med. 2019 Dec;21(12):2755-2764. PMID: 31263215.

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  • Dever DP, Scharenberg SG, Camarena J, Kildebeck EJ, Clark JT, Martin RM, Bak RO, Tang Y, Dohse M, Birgmeier JA, Jagadeesh KA, Bejerano G, Tsukamoto A, Gomez-Ospina N, Uchida N, Porteus MH. CRISPR/Cas9 Genome Engineering in Engraftable Human Brain-Derived Neural Stem Cells. iScience. 2019 May 31;15:524-535. doi: 10.1016/j.isci.2019.04.036. PMID: 31132746.

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  • Charlesworth CT, Deshpande PS, Dever DP, Dejene B, Gomez-Ospina N, Mantri S, Pavel-Dinu M, Camarena J, Weinberg KI, Porteus MH. Identification of Pre-Existing Adaptive Immunity to Cas9 Proteins in Humans. Nature Medicine. 2019. Feb;25(2):249-254. doi: 10.1038/s41591-018-0326-x PMID: 30692695.

 

2018​​

  • Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Krahn-Peper C, Berutti R, Kovács-Nagy R, Gusic M, Graf E, Laugwitz L, Röblitz M, Wroblewski A, Hartmann H, Das AM, Bültmann E, Fang F, Xu M, Schatz UA, Karall D, Zellner H, Haberlandt E, Feichtinger RG, Mayr JA, Meitinger T, Prokisch H, Strom TM, PÅ‚oski R, Hoffmann GF, Pronicki M, Bonnen PE, Morlot S, Haack TB. Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. Am J Hum Genet. 2018 Nov 1;103(5):817-825. doi: 10.1016/j.ajhg.2018.10.005 PMID: 30401461.

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  • 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. A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells. Nature Medicine. 2018 Aug;24(8):1216-1224. doi: 10.1038/s41591-018-0137-0. PMID: 30082871.

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  • Bak RO, Gomez-Ospina N, Porteus MH. Genome Editing on Center Stage. Trends Genet. Aug;34(8):600-611. doi: 10.1016/j.tig.2018.05.004. PMID: 29908711.

2017​​​

  • 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, Al 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. Molecular and clinical spectra of FBXL4 deficiency. Human Mutation. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. PMID: 28940506.

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  • Crapster AJ, Hudgins L, Chen JK, Gomez-Ospina N. A Novel Missense Variant in the GLI3 Zinc Finger Domain in a Family with Digital Anomalies. Am J Med Genet Part A. 2017 2017 Dec;173(12):3221-3225. doi: 10.1002/ajmg.a.38415. PMID: 28884880. 

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  • Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, V an Allen M, Jacquinet A, Ygberg S, Bernstein JA, Wenger AM, Guturu H, Bejerano G, Gomez-Ospina N, Lehman A, Alfei E, Pantaleoni C, Conti V, Guerrini R, Moog U, Graham Jr. JM, Hevner R, Dobyns WB, O’Driscoll M, Mirzaa GM. Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain. 2017 Oct 1;140(10):2610-2622. doi: 10.1093/brain/awx203. PMID: 28969385.

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2016

  • Weiss K, Terhal PA, Cohen L, Bruccoleri M, Irving M, Martinez AF, Rosenfeld JA, Machol K, Yang Y, Liu P, Walkiewicz M, Beuten J, Gomez-Ospina N, Haude K, Fong CT, Enns GM, Bernstein JA, Fan J, Gotway G, Ghorbani M; DDD Study, van Gassen K, Monroe GR, van Haaften G, Basel-Vanagaite L, Yang XJ, Campeau PM, Muenke M. De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms. Am J Hum Genet. 2016. 99(4): p.934-941. PMID: 27616479.

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  • Gomez-Ospina N, Scott AI, Oh GJ, Potter D, Goel VV, Destino L, Baugh N, Enns GM, Niemi AK, Cowan TM. Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine. J Inherit Metab Dis. 2016. 39(6): p.821-829. PMID: 27488560.

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  • Gomez-Ospina N, Kuo C, Ananth AL, Myers A, Brennan ML, Stevenson DA, Bernstein JA, Hudgins L. Respiratory Involvement in Costello Syndrome. Am J Med Genet Part A.  2016. 170(7): p.1849-57. PMID:27102959.

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  • Gomez-Ospina N, Potter C, Xiao R, Manickam K, Kim M, Shneider B, Picarsic J, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny D, Boerwinkle E, Lupski J, Plon SE, Beaudet AL, Gibbs RA, Eng CM, Yang Y, Washington GC, Berquist WE, Kambham N, Xia F, Enns GM, Moore DD. Mutations in the Nuclear Bile Acid Receptor FXR Cause Progressive Familial Intrahepatic Cholestasis. Nature Communications. 2016. 7:10713. PMID:26888176.

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Gomez-Ospina N, Bernstein JA (2016). Clinical, Cytogenetic, and Molecular Outcomes in a Series of 66 Patients with Pierre Robin Sequence and Literature Review: 22q11.2 Deletion is Less Common than Other Chromosomal Anomalies. Am J Med Genet Part A.  2016. 170(4): p.870-80. PMID:26756138.

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2015

  • Ji J, Lee H, Argiropoulos B, Dorrani N, Mann J, Martinez-Agosto JA, Gomez-Ospina N, Gallant N, Bernstein, JA, Hudgins L, Slattery L, Isidor B, Le Caignec C, David A, Obersztyn E, WiÅ› niowiecka Kowalnik B, Fox M, Deignan J, Vilain E, Hendricks E, Horton M, Noon S, Jackson J, Wilkens A, Mirzaa G, Salamon N, Abramson J, Zackai E, Krantz I, Innes M, Nelson S, Grody W, Quintero-Rivera F. DYRK1A Haploinsufficiency Causes a New Recognizable Syndrome with Microcephaly, Intellectual Disability, Speech impairment and Distinct Facies. Eur J Hum Genet.  2015. 23(11): p.1473-81. PMCID: PMC4613469.

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2013

  • Yucel G, Altindag B, Gomez-Ospina N, Rana A, Panagiotakos G, Lara Cabanas MF, Dolmetsch R and Oro A. State-dependent Signaling by Cav1.2 Regulates Hair Follicle Stem Cell Function. Genes Dev.  2013. 27(11): p.1217-22. PMCID: PMC3690395.

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  • Gomez-Ospina N, Panagiotakos G, Portmann T, Pasca SP, Rabah D, Budzillo A, Kinet JP, Dolmetsch RE. A Promoter in the Coding Region of the Calcium Channel Gene CACNA1C Generates the Transcription Factor CCAT. PLOS One.  2013. 8(4): p.e60526. PMCID: PMC3628902.

 

2012​​

  • Gomez-Ospina N, Ku Q, Chang A, Oro A. Translocation Affecting Sonic Hedgehog Gene associated with Basal Cell Carcinomas. New England Journal of Medicine.  2012. 366(23): p.2233-4. PMCID: PMC3839666.

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2006

  • Gomez-Ospina N, Tsuruta F, Linda Hu, Dolmetsch R (2006). The C-terminus of the L-type voltage-gated calcium channel Cav1.2 encodes a novel transcription factor. Cell. 2006.127(3): p.591-606. PMCID: PMC1750862.

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2004

  • Fromherz S, Giddings TH, Gomez-Ospina N, Dutcher SK (2004). Mutations in alpha-tubulin promote basal body maturation and flagellar assembly in the absence of alpha–tubulin. J Cell Sci.  2004. 117(Pt2): p.303-14. PMID: 14676280

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2003

  • Mogelsvang S*, Gomez-Ospina N*, Staehelin A (2003). Tomographic evidence for continuous turnover of golgi cisternae in Pichia pastoris. Mol Biol Cell. 2003. 14(6): p.2277-91. PMCID: PMC260745. * Contributed equally.

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  • Lee J, Yoo B, Rojas MR, Gomez-Ospina N, Staehelin A, Lucas W. Selective trafficking of non-cell-autonomous proteins mediated by NtNCAPP1. Science. 2003. 299(5605): p.392-6. PMID: 12532017

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2000​

  • Daum Jr, Gomez-Ospina N, Winey M, Burke DJ. The spindle checkpoint of Saccharomyces cerevisiae responds to separable microtubule-dependent events. Curr Biol. 2000. 10(21): p.1375-8. PMID:11084338.

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  • Gomez-Ospina N, Morgan G, Giddings TH Jr, Kosova B, Hurt E, Winey M. Yeast nuclear pore complex assembly defects determined by nuclear envelope reconstruction. J Struct Biol. 2000. 132(1): p.1-5. PMID: 11121302.

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