Dr Natalia Gomez-Ospina, MD, PhD - Stanford University - Assistant Professor

Dr Natalia Gomez-Ospina

MD, PhD

Stanford University

Assistant Professor

Palo Alto, CA | United States

Main Specialties: Medical Genetics

Dr Natalia Gomez-Ospina, MD, PhD - Stanford University - Assistant Professor

Dr Natalia Gomez-Ospina

MD, PhD

Introduction

Primary Affiliation: Stanford University - Palo Alto, CA , United States

Specialties:

Publications

25Publications

969Reads

2Profile Views

311PubMed Central Citations

Genome Editing for Mucopolysaccharidoses.

Int J Mol Sci 2020 Jan 13;21(2). Epub 2020 Jan 13.

Department of Pediatrics, Stanford University, Stanford, CA 94305, USA.

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http://dx.doi.org/10.3390/ijms21020500DOI Listing
January 2020
2.862 Impact Factor

Building a Professional Identity and an Academic Career Track in Translational Medicine.

Front Med (Lausanne) 2019 3;6:151. Epub 2019 Jul 3.

Laboratory Medicine and Pathobiology, Departments of Paediatrics, Physiology, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.3389/fmed.2019.00151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6618343PMC
July 2019

Gene Editing on Center Stage.

Trends Genet 2018 08 13;34(8):600-611. Epub 2018 Jun 13.

Department of Pediatrics, Stanford University, Stanford, CA 94305, USA. Electronic address:

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http://dx.doi.org/10.1016/j.tig.2018.05.004DOI Listing
August 2018
12 Reads
9.920 Impact Factor

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

J Inherit Metab Dis 2016 11 3;39(6):821-829. Epub 2016 Aug 3.

Department of Pediatrics, Stanford University School of Medicine, 300 Pasteur Drive, H 315, Stanford, CA, 94305-5208, USA.

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http://dx.doi.org/10.1007/s10545-016-9963-8DOI Listing
November 2016
69 Reads
3.370 Impact Factor

Respiratory system involvement in Costello syndrome.

Am J Med Genet A 2016 07 22;170(7):1849-57. Epub 2016 Apr 22.

Division of Medical Genetics, Stanford University School of Medicine, Stanford, California.

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http://dx.doi.org/10.1002/ajmg.a.37655DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5509842PMC
July 2016
73 Reads
2.160 Impact Factor

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 A 2016 Apr 12;170A(4):870-80. Epub 2016 Jan 12.

Stanford University School of Medicine, Stanford, California.

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http://dx.doi.org/10.1002/ajmg.a.37538DOI Listing
April 2016
62 Reads
3 Citations
2.160 Impact Factor

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

PLoS One 2013 16;8(4):e60526. Epub 2013 Apr 16.

Department of Neurobiology, Stanford University School of Medicine, Stanford, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0060526PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3628902PMC
November 2013
27 Reads
8 Citations
3.234 Impact Factor

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

Genes Dev 2013 Jun;27(11):1217-22

Program in Epithelial Biology, Stanford University, School of Medicine, Stanford, California 94305, USA.

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http://dx.doi.org/10.1101/gad.216556.113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3690395PMC
June 2013
35 Reads
10 Citations
10.800 Impact Factor

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

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

Department of Neurobiology, Stanford University School of Medicine, 299 Campus Drive, Stanford, CA 94305, USA.

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http://dx.doi.org/10.1016/j.cell.2006.10.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1750862PMC
November 2006
44 Reads
126 Citations
32.242 Impact Factor

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

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

Department of Molecular, Cellular, and Developmental Biology, University of Colorado, Boulder, Boulder, CO 80309-0347, USA.

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http://dx.doi.org/10.1242/jcs.00859DOI Listing
January 2004
19 Reads
8 Citations
5.432 Impact Factor

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

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

Department of Molecular, Cellular, and Developmental Biology, University of Colorado, Boulder 80309-0347, USA.

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http://dx.doi.org/10.1091/mbc.e02-10-0697DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC260745PMC
June 2003
36 Reads
40 Citations
4.470 Impact Factor

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

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

Section of Plant Biology, Division of Biological Sciences, University of California, 1 Shields Avenue, Davis, CA 95616, USA.

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http://dx.doi.org/10.1126/science.1077813DOI Listing
January 2003
32 Reads
37 Citations
31.480 Impact Factor

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

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

Department of Biochemistry and Molecular Genetics, University of Virginia Medical Center, Charlottesville, Virginia 22908-0733, USA.

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http://dx.doi.org/10.1016/s0960-9822(00)00780-6DOI Listing
November 2000
47 Reads
18 Citations
9.571 Impact Factor

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

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

Department of Molecular, Cellular and Developmental Biology, CB 347, University of Colorado-Boulder, Boulder, Colorado, 80309-0347, USA.

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http://dx.doi.org/10.1006/jsbi.2000.4305DOI Listing
October 2000
44 Reads
13 Citations
3.231 Impact Factor

Top co-authors

Matthew H Porteus
Matthew H Porteus

University of Texas Southwestern Medical Center

6
Yaping Yang
Yaping Yang

Baylor College of Medicine

4
Pengfei Liu
Pengfei Liu

Baylor College of Medicine

4
Jonathan A Bernstein
Jonathan A Bernstein

University of Cincinnati College of Medicine

4
Louanne Hudgins
Louanne Hudgins

Stanford University School of Medicine

4
Rasmus O Bak
Rasmus O Bak

Aarhus University

4
Ian Krantz
Ian Krantz

The Children's Hospital of Philadelphia

3
Daniel P Dever
Daniel P Dever

University of Rochester

3
Jill A Rosenfeld
Jill A Rosenfeld

Baylor College of Medicine

3