Natalia Gomez-Ospina - Publications

Affiliations: 
2002-2008 Medicine Stanford University, Palo Alto, CA 

11 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2016 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. Journal of Inherited Metabolic Disease. PMID 27488560 DOI: 10.1007/s10545-016-9963-8  0.44
2016 Gomez-Ospina N, Kuo C, Ananth AL, Myers A, Brennan ML, Stevenson DA, Bernstein JA, Hudgins L. Respiratory system involvement in Costello syndrome. American Journal of Medical Genetics. Part A. PMID 27102959 DOI: 10.1002/Ajmg.A.37655  0.44
2016 Gomez-Ospina N, Potter CJ, Xiao R, Manickam K, Kim MS, Kim KH, Shneider BL, Picarsic JL, Jacobson TA, Zhang J, He W, Liu P, Knisely AS, Finegold MJ, Muzny DM, et al. Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis. Nature Communications. 7: 10713. PMID 26888176 DOI: 10.1038/Ncomms10713  0.44
2016 Gomez-Ospina N, Bernstein JA. 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 American Journal of Medical Genetics, Part A. DOI: 10.1002/ajmg.a.37538  0.44
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, et al. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. European Journal of Human Genetics : Ejhg. PMID 25944381 DOI: 10.1038/ejhg.2015.71  0.44
2013 Yucel G, Altindag B, Gomez-Ospina N, Rana A, Panagiotakos G, Lara MF, Dolmetsch R, Oro AE. State-dependent signaling by Cav1.2 regulates hair follicle stem cell function. Genes & Development. 27: 1217-22. PMID 23752588 DOI: 10.1101/Gad.216556.113  0.44
2013 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. 8: e60526. PMID 23613729 DOI: 10.1371/Journal.Pone.0060526  0.44
2007 Brenner J, Gomez-Ospina N, Dolmetsch R. Temporal and spatial regulation of calcium-dependent transcription New Comprehensive Biochemistry. 41: 403-423. DOI: 10.1016/S0167-7306(06)41015-2  0.44
2006 Gomez-Ospina N, Tsuruta F, Barreto-Chang O, Hu L, Dolmetsch R. The C Terminus of the L-Type Voltage-Gated Calcium Channel CaV1.2 Encodes a Transcription Factor Cell. 127: 591-606. PMID 17081980 DOI: 10.1016/j.cell.2006.10.017  0.44
2004 Fromherz S, Giddings TH, Gomez-Ospina N, Dutcher SK. Mutations in alpha-tubulin promote basal body maturation and flagellar assembly in the absence of delta-tubulin. Journal of Cell Science. 117: 303-14. PMID 14676280 DOI: 10.1242/jcs.00859  0.44
2003 Mogelsvang S, Gomez-Ospina N, Soderholm J, Glick BS, Staehelin LA. Tomographic evidence for continuous turnover of Golgi cisternae in Pichia pastoris. Molecular Biology of the Cell. 14: 2277-91. PMID 12808029 DOI: 10.1091/mbc.E02-10-0697  0.44
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