| Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing MB Consugar, D Navarro-Gomez, EM Place, KM Bujakowska, ME Sousa, ... Genetics in Medicine 17 (4), 253-261, 2015 | 245 | 2015 |
| Allele-specific CRISPR-Cas9 genome editing of the single-base P23H mutation for rhodopsin-associated dominant retinitis pigmentosa P Li, BP Kleinstiver, MY Leon, MS Prew, D Navarro-Gomez, ... The CRISPR journal 1 (1), 55-64, 2018 | 120 | 2018 |
| Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data … MJ Falk, L Shen, M Gonzalez, J Leipzig, MT Lott, APM Stassen, ... Molecular genetics and metabolism 114 (3), 388-396, 2015 | 91 | 2015 |
| Individualized, heterologous chimpanzee adenovirus and self-amplifying mRNA neoantigen vaccine for advanced metastatic solid tumors: phase 1 trial interim results CD Palmer, AR Rappaport, MJ Davis, MG Hart, CD Scallan, SJ Hong, ... Nature medicine 28 (8), 1619-1629, 2022 | 74 | 2022 |
| Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations E Zampaglione, B Kinde, EM Place, D Navarro-Gomez, M Maher, ... Genetics in Medicine 22 (6), 1079-1087, 2020 | 69 | 2020 |
| Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier D Navarro-Gomez, J Leipzig, L Shen, M Lott, APM Stassen, DC Wallace, ... Bioinformatics 31 (8), 1310-1312, 2015 | 65 | 2015 |
| Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations KM Bujakowska, R Fernandez-Godino, E Place, M Consugar, ... Genetics in Medicine 19 (6), 643-651, 2017 | 61 | 2017 |
| MSeqDR: a centralized knowledge repository and bioinformatics web resource to facilitate genomic investigations in mitochondrial disease L Shen, MA Diroma, M Gonzalez, D Navarro‐Gomez, J Leipzig, MT Lott, ... Human mutation 37 (6), 540-548, 2016 | 45 | 2016 |
| Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy C Ung, AV Sanchez, L Shen, S Davoudi, T Ahmadi, D Navarro-Gomez, ... Vision research 139, 168-176, 2017 | 40 | 2017 |
| The genetic basis of pericentral retinitis pigmentosa—a form of mild retinitis pigmentosa J Comander, C Weigel-DiFranco, M Maher, E Place, A Wan, S Harper, ... Genes 8 (10), 256, 2017 | 35 | 2017 |
| Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration F Jamshidi, EM Place, S Mehrotra, D Navarro-Gomez, M Maher, ... Genetics in Medicine 21 (3), 694-704, 2019 | 32 | 2019 |
| Targeted exon sequencing in Usher syndrome type I KM Bujakowska, M Consugar, E Place, S Harper, J Lena, DG Taub, ... Investigative ophthalmology & visual science 55 (12), 8488-8496, 2014 | 24 | 2014 |
| Expanding the phenotypic spectrum in RDH12-associated retinal disease HA Scott, EM Place, K Ferenchak, E Zampaglione, NE Wagner, KR Chao, ... Molecular Case Studies 6 (1), a004754, 2020 | 22 | 2020 |
| A NGS approach to the encrusting Mediterranean sponge Crella elegans (Porifera, Demospongiae, Poecilosclerida): transcriptome sequencing, characterization … AR Pérez‐Porro, D Navarro‐Gómez, MJ Uriz, G Giribet Molecular ecology resources 13 (3), 494-509, 2013 | 22 | 2013 |
| A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families R Bronstein, EE Capowski, S Mehrotra, AD Jansen, D Navarro-Gomez, ... Human molecular genetics 29 (6), 967-979, 2020 | 16 | 2020 |
| Association of genetic variants in RAB23 and ANXA11 with uveitis in sarcoidosis S Davoudi, VS Chang, D Navarro-Gomez, LK Stanwyck, DD Sevgi, ... Molecular vision 24, 59, 2018 | 12 | 2018 |
| NOD2 genetic variants and sarcoidosis-associated uveitis S Davoudi, D Navarro-Gomez, L Shen, C Ung, A Ren, L Sullivan, ... American Journal of Ophthalmology Case Reports 3, 39-42, 2016 | 9 | 2016 |
| The effect of vitamin A on progression of retinitis pigmentosa is not determined by the underlying genetic cause of disease EA Pierce, KM Bujakowska, E Place, D Navarro-Gomez, M Maher, ... Investigative Ophthalmology & Visual Science 58 (8), 2011-2011, 2017 | 3 | 2017 |
| International mentoring as a new educational approach to alleviate brain drain, empower young talent, and internationalize higher education M Soriano-Carot, R Bretón-Romero, J Lopez-Herraiz, R López-Diego, ... Nature Biotechnology 35 (3), 285-288, 2017 | 3 | 2017 |
| Evaluating methods for differential gene expression and alternative splicing using internal synthetic controls S Mehrotra, R Bronstein, D Navarro-Gomez, AV Segrè, EA Pierce bioRxiv, 2020.08. 05.238295, 2020 | 2 | 2020 |
