Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 21

1.

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.

Nat Med. 2018 Aug;24(8):1216-1224. doi: 10.1038/s41591-018-0137-0. Epub 2018 Aug 6.

PMID:
30082871
2.

Gene Editing on Center Stage.

Bak RO, Gomez-Ospina N, Porteus MH.

Trends Genet. 2018 Aug;34(8):600-611. doi: 10.1016/j.tig.2018.05.004. Epub 2018 Jun 13. Review.

PMID:
29908711
3.

Arylsulfatase A Deficiency.

Gomez-Ospina N.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 May 30 [updated 2017 Dec 14].

4.

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

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, Van Allen MI, 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 JM Jr, Hevner R, Dobyns WB, O'Driscoll M, Mirzaa GM.

Brain. 2017 Oct 1;140(10):2610-2622. doi: 10.1093/brain/awx203.

PMID:
28969385
5.

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.

Hum Mutat. 2017 Dec;38(12):1649-1659. doi: 10.1002/humu.23341. Epub 2017 Oct 6. Review.

PMID:
28940506
6.

A novel missense variant in the GLI3 zinc finger domain in a family with digital anomalies.

Crapster JA, Hudgins L, Chen JK, Gomez-Ospina N.

Am J Med Genet A. 2017 Dec;173(12):3221-3225. doi: 10.1002/ajmg.a.38415. Epub 2017 Sep 8.

PMID:
28884880
7.

De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

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.

Am J Hum Genet. 2016 Oct 6;99(4):934-941. doi: 10.1016/j.ajhg.2016.08.001. Epub 2016 Sep 8.

8.

Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine.

Gomez-Ospina N, Scott AI, Oh GJ, Potter D, Goel VV, Destino L, Baugh N, Enns GM, Niemi AK, Cowan TM.

J Inherit Metab Dis. 2016 Nov;39(6):821-829. Epub 2016 Aug 3.

PMID:
27488560
9.

Respiratory system involvement in Costello syndrome.

Gomez-Ospina N, Kuo C, Ananth AL, Myers A, Brennan ML, Stevenson DA, Bernstein JA, Hudgins L.

Am J Med Genet A. 2016 Jul;170(7):1849-57. doi: 10.1002/ajmg.a.37655. Epub 2016 Apr 22.

10.

Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis.

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, Boerwinkle E, Lupski JR, Plon SE, Gibbs RA, Eng CM, Yang Y, Washington GC, Porteus MH, Berquist WE, Kambham N, Singh RJ, Xia F, Enns GM, Moore DD.

Nat Commun. 2016 Feb 18;7:10713. doi: 10.1038/ncomms10713.

11.
12.

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

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, Wiśniowiecka-Kowalnik B, Fox M, Deignan JL, Vilain E, Hendricks E, Horton Harr M, Noon SE, Jackson JR, Wilkens A, Mirzaa G, Salamon N, Abramson J, Zackai EH, Krantz I, Innes AM, Nelson SF, Grody WW, Quintero-Rivera F.

Eur J Hum Genet. 2015 Nov;23(11):1473-81. doi: 10.1038/ejhg.2015.71. Epub 2015 May 6.

13.

State-dependent signaling by Cav1.2 regulates hair follicle stem cell function.

Yucel G, Altindag B, Gomez-Ospina N, Rana A, Panagiotakos G, Lara MF, Dolmetsch R, Oro AE.

Genes Dev. 2013 Jun 1;27(11):1217-22. doi: 10.1101/gad.216556.113.

14.

A promoter in the coding region of the calcium channel gene CACNA1C generates the transcription factor CCAT.

Gomez-Ospina N, Panagiotakos G, Portmann T, Pasca SP, Rabah D, Budzillo A, Kinet JP, Dolmetsch RE.

PLoS One. 2013 Apr 16;8(4):e60526. doi: 10.1371/journal.pone.0060526. Print 2013.

15.

Translocation affecting sonic hedgehog genes in basal-cell carcinoma.

Gomez-Ospina N, Chang AL, Qu K, Oro AE.

N Engl J Med. 2012 Jun 7;366(23):2233-4. doi: 10.1056/NEJMc1115123. No abstract available.

16.

The C terminus of the L-type voltage-gated calcium channel Ca(V)1.2 encodes a transcription factor.

Gomez-Ospina N, Tsuruta F, Barreto-Chang O, Hu L, Dolmetsch R.

Cell. 2006 Nov 3;127(3):591-606.

17.

Mutations in alpha-tubulin promote basal body maturation and flagellar assembly in the absence of delta-tubulin.

Fromherz S, Giddings TH Jr, Gomez-Ospina N, Dutcher SK.

J Cell Sci. 2004 Jan 15;117(Pt 2):303-14.

18.

Tomographic evidence for continuous turnover of Golgi cisternae in Pichia pastoris.

Mogelsvang S, Gomez-Ospina N, Soderholm J, Glick BS, Staehelin LA.

Mol Biol Cell. 2003 Jun;14(6):2277-91. Epub 2003 Apr 4.

19.

Selective trafficking of non-cell-autonomous proteins mediated by NtNCAPP1.

Lee JY, Yoo BC, Rojas MR, Gomez-Ospina N, Staehelin LA, Lucas WJ.

Science. 2003 Jan 17;299(5605):392-6.

20.

Yeast nuclear pore complex assembly defects determined by nuclear envelope reconstruction.

Gomez-Ospina N, Morgan G, Giddings TH Jr, Kosova B, Hurt E, Winey M.

J Struct Biol. 2000 Oct;132(1):1-5.

PMID:
11121302
21.

The spindle checkpoint of Saccharomyces cerevisiae responds to separable microtubule-dependent events.

Daum JR, Gomez-Ospina N, Winey M, Burke DJ.

Curr Biol. 2000 Nov 2;10(21):1375-8.

Supplemental Content

Loading ...
Support Center