Daniel Navarro-Gomez

Daniel Navarro-Gomez

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Daniel Navarro-Gomez

Daniel Navarro-Gomez

Publications by authors named "Daniel Navarro-Gomez"

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16Publications

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A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families.

Hum Mol Genet 2020 Feb 3. Epub 2020 Feb 3.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, 02114, USA.

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http://dx.doi.org/10.1093/hmg/ddaa016DOI Listing
February 2020

Expanding the phenotypic spectrum in RDH12-associated retinal disease.

Cold Spring Harb Mol Case Stud 2020 Feb 3;6(1). Epub 2020 Feb 3.

Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1101/mcs.a004754DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6996522PMC
February 2020

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

Genet Med 2020 Feb 10. Epub 2020 Feb 10.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1038/s41436-020-0759-8DOI Listing
February 2020

Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.

Genet Med 2019 03 3;21(3):694-704. Epub 2018 Aug 3.

Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/s41436-018-0104-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399075PMC
March 2019

Association of genetic variants in and with uveitis in sarcoidosis.

Mol Vis 2018 21;24:59-74. Epub 2018 Jan 21.

Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5783744PMC
November 2018

The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.

Genes (Basel) 2017 Oct 5;8(10). Epub 2017 Oct 5.

Ocular Genomics Institute, Berman-Gund Laboratory for the Study of Retinal Degenerations, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA.

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http://www.mdpi.com/2073-4425/8/10/256
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http://dx.doi.org/10.3390/genes8100256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664106PMC
October 2017

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.

Genet Med 2017 06 13;19(6):643-651. Epub 2016 Oct 13.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2016.158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377944PMC
June 2017

genetic variants and sarcoidosis-associated uveitis.

Am J Ophthalmol Case Rep 2016 Oct 1;3:39-42. Epub 2016 Jun 1.

Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.

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http://dx.doi.org/10.1016/j.ajoc.2016.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5757392PMC
October 2016

Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier.

Bioinformatics 2015 Apr 12;31(8):1310-2. Epub 2014 Dec 12.

Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA, Center for Biomedical Informaticsand Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA, Department of Clinical Genetics, Maastricht University Medical Centre, The Netherlands, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA and Department of Forensic Molecular Biology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

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https://academic.oup.com/bioinformatics/article-lookup/doi/1
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http://dx.doi.org/10.1093/bioinformatics/btu825DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4393525PMC
April 2015

Targeted exon sequencing in Usher syndrome type I.

Invest Ophthalmol Vis Sci 2014 Dec 2;55(12):8488-96. Epub 2014 Dec 2.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, United States Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States.

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http://dx.doi.org/10.1167/iovs.14-15169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4280089PMC
December 2014