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Spectral-Domain Optical Coherence Tomography and Fundus Autofluorescence Evaluation of Torpedo Maculopathy.
Published in:
Journal of Pediatric Ophthalmology & Strabismus, 2015, v. 52, p. e8, doi. 10.3928/01913913-20150303-01
By:
- Thomas, Akshay S.;
- Flaxel, Christina J.;
- Pennesi, Mark E.
Publication type:
Article
Ophthalmic findings in an infant with phosphomannomutase deficiency.
Published in:
Documenta Ophthalmologica, 2014, v. 128, n. 2, p. 149, doi. 10.1007/s10633-014-9427-0
By:
- Messenger, Wyatt;
- Yang, Paul;
- Pennesi, Mark
Publication type:
Article
GCAP1 rescues rod photoreceptor response in GCAP1/GCAP2 knockout mice.
Published in:
EMBO Journal, 2002, v. 21, n. 7, p. 1545, doi. 10.1093/emboj/21.7.1545
By:
- Howes, Kim A.;
- Pennesi, Mark E.;
- Sokal, Izabela;
- Church-kopish, Jill;
- Schmidt, Ben;
- Margolis, David;
- Frederick, Jeanne M.;
- Rieke, Fred;
- Palczewski, Krzysztof;
- Wu, Samuel M.;
- Detwiler, Peter B.;
- Baehr, Wolfgang
Publication type:
Article
Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study.
Published in:
Human Mutation, 2022, v. 43, n. 5, p. 613, doi. 10.1002/humu.24365
By:
- Hufnagel, Robert B.;
- Liang, Wendi;
- Duncan, Jacque L.;
- Brewer, Carmen C.;
- Audo, Isabelle;
- Ayala, Allison R.;
- Branham, Kari;
- Cheetham, Janet K.;
- Daiger, Stephen P.;
- Durham, Todd A.;
- Guan, Bin;
- Heon, Elise;
- Hoyng, Carel B.;
- Iannaccone, Alessandro;
- Kay, Christine N.;
- Michaelides, Michel;
- Pennesi, Mark E.;
- Singh, Mandeep S.;
- Ullah, Ehsan
Publication type:
Article
Two-Color Dark-Adapted Perimetry Implemented With a Commercially Available Perimeter to Characterize Rod-Pathway Sensitivity.
Published in:
Ophthalmic Surgery, Lasers & Imaging Retina, 2022, v. 53, n. 12, p. 692, doi. 10.3928/23258160-20221118-03
By:
- Igelman, Austin D.;
- Park, Jason C.;
- Hyde, Robert A.;
- Everett, Lesley;
- Yang, Paul;
- Pennesi, Mark E.;
- McAnany, J. Jason
Publication type:
Article
Multimodal Imaging in Wagner Syndrome.
Published in:
2016
By:
- Thomas, Akshay S.;
- Branham, Kari;
- Van Gelder, Russell N.;
- Daiger, Stephen P.;
- Sullivan, Lori S.;
- Bowne, Sara J.;
- Heckenlively, John R.;
- Pennesi, Mark E.
Publication type:
journal article
Gene Therapy Trial Update: A Primer for Vitreoretinal Specialists.
Published in:
2016
By:
- Ku, Cristy A.;
- Pennesi, Mark E.;
- Hariprasad, Seenu M.
Publication type:
journal article
Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases.
Published in:
Genes, 2023, v. 14, n. 2, p. 447, doi. 10.3390/genes14020447
By:
- Hussain, Hafiz Muhammad Jafar;
- Wang, Meng;
- Huang, Austin;
- Schmidt, Ryan;
- Qian, Xinye;
- Yang, Paul;
- Marra, Molly;
- Li, Yumei;
- Pennesi, Mark E.;
- Chen, Rui
Publication type:
Article
The effects of PEGylation on LNP based mRNA delivery to the eye.
Published in:
PLoS ONE, 2020, v. 15, n. 10, p. 1, doi. 10.1371/journal.pone.0241006
By:
- Ryals, Renee C.;
- Patel, Siddharth;
- Acosta, Chris;
- McKinney, Madison;
- Pennesi, Mark E.;
- Sahay, Gaurav
Publication type:
Article
Adeno-Associated Viral Gene Therapy for Inherited Retinal Disease.
Published in:
Pharmaceutical Research, 2019, v. 36, n. 2, p. 1, doi. 10.1007/s11095-018-2564-5
By:
- Ong, Tuyen;
- Pennesi, Mark E.;
- Birch, David G.;
- Lam, Byron L.;
- Tsang, Stephen H.
Publication type:
Article
The 'dark' side of sedation: 12 years of office-based pediatric deep sedation for electroretinography in the dark.
Published in:
Pediatric Anesthesia, 2011, v. 21, n. 1, p. 65, doi. 10.1111/j.1460-9592.2010.03462.x
By:
- Lalwani, Kirk;
- Tompkins, Brian D.;
- Burnes, Kevin;
- Krahmer, Melissa R.;
- Pennesi, Mark E.;
- Weleber, Richard G.
Publication type:
Article
Gene therapy in bestrophinopathies: Insights from preclinical studies in preparation for clinical trials.
Published in:
Saudi Journal of Ophthalmology, 2023, v. 37, n. 4, p. 287, doi. 10.4103/sjopt.sjopt_175_23
By:
- Amato, Alessia;
- Wongchaisuwat, Nida;
- Lamborn, Andrew;
- Schmidt, Ryan;
- Everett, Lesley;
- Yang, Paul;
- Pennesi, Mark
Publication type:
Article
Retinitis pigmentosa GTPase regulator-related retinopathy and gene therapy.
Published in:
Saudi Journal of Ophthalmology, 2023, v. 37, n. 4, p. 276, doi. 10.4103/sjopt.sjopt_168_23
By:
- Wongchaisuwat, Nida;
- Amato, Alessia;
- Lamborn, Andrew;
- Yang, Paul;
- Everett, Lesley;
- Pennesi, Mark
Publication type:
Article
Gene Therapy for Posterior Segment Disease.
Published in:
Focal Points, 2019, v. 37, n. 4, p. 1
By:
- Simonett, Joseph M.;
- Pennesi, Mark E.
Publication type:
Article
The new landscape of retinal gene therapy.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 3, p. 846, doi. 10.1002/ajmg.c.31842
By:
- Ku, Cristy A.;
- Pennesi, Mark E.
Publication type:
Article
Automated detection of preserved photoreceptor on optical coherence tomography in choroideremia based on machine learning.
Published in:
Journal of Biophotonics, 2018, v. 11, n. 5, p. 1, doi. 10.1002/jbio.201700313
By:
- Wang, Zhuo;
- Camino, Acner;
- Hagag, Ahmed M.;
- Wang, Jie;
- Weleber, Richard G.;
- Yang, Paul;
- Pennesi, Mark E.;
- Huang, David;
- Li, Dengwang;
- Jia, Yali
Publication type:
Article
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long‐chain 3‐hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy.
Published in:
Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 746, doi. 10.1002/jimd.12738
By:
- Gillingham, Melanie B.;
- Choi, Dongseok;
- Gregor, Ashley;
- Wongchaisuwat, Nida;
- Black, Danielle;
- Scanga, Hannah L.;
- Nischal, Ken K.;
- Sahel, Jose‐Alain;
- Arnold, Georgianne;
- Vockley, Jerry;
- Harding, Cary O.;
- Pennesi, Mark E.
Publication type:
Article
Subretinal delivery of immunoglobulin G with gold nanoparticles in the rabbit eye.
Published in:
Japanese Journal of Ophthalmology, 2009, v. 53, n. 3, p. 249
By:
- Mark Pennesi;
- Eugene de Juan
Publication type:
Article
Identification of Deep-Intronic Splice Mutations in a Large Cohort of Patients With Inherited Retinal Diseases.
Published in:
Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.647400
By:
- Qian, Xinye;
- Wang, Jun;
- Wang, Meng;
- Igelman, Austin D.;
- Jones, Kaylie D.;
- Li, Yumei;
- Wang, Keqing;
- Goetz, Kerry E.;
- Birch, David G.;
- Yang, Paul;
- Pennesi, Mark E.;
- Chen, Rui
Publication type:
Article
A G1528C Hadha knock-in mouse model recapitulates aspects of human clinical phenotypes for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Published in:
Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-023-05268-1
By:
- Gaston, Garen;
- Babcock, Shannon;
- Ryals, Renee;
- Elizondo, Gabriela;
- DeVine, Tiffany;
- Wafai, Dahlia;
- Packwood, William;
- Holden, Sarah;
- Raber, Jacob;
- Lindner, Jonathan R.;
- Pennesi, Mark E.;
- Harding, Cary O.;
- Gillingham, Melanie B.
Publication type:
Article
Strategies for Treating Inherited Retinal Degeneration With Large Genes That Are Not Amenable to Adeno-Associated Virus-Based Gene Replacement Therapy.
Published in:
2021
By:
- Yang, Paul;
- Pennesi, Mark E.;
- Weleber, Richard G.
Publication type:
journal article
When the Disease Does Not Follow the Textbook.
Published in:
2020
By:
- Pennesi, Mark Edward
Publication type:
journal article
Disease Course in Patients With Pentosan Polysulfate Sodium-Associated Maculopathy After Drug Cessation.
Published in:
2020
By:
- Shah, Rachel;
- Simonett, Joseph M.;
- Lyons, Riley J.;
- Rao, Rajesh C.;
- Pennesi, Mark E.;
- Jain, Nieraj
Publication type:
journal article
Phenotypic Spectrum of Pentosan Polysulfate Sodium-Associated Maculopathy: A Multicenter Study.
Published in:
2019
By:
- Hanif, Adam M.;
- Armenti, Stephen T.;
- Taylor, Stanford C.;
- Shah, Rachel A.;
- Igelman, Austin D.;
- Jayasundera, K. Thiran;
- Pennesi, Mark E.;
- Khurana, Rahul N.;
- Foote, Jenelle E.;
- O'Keefe, Ghazala A.;
- Yang, Paul;
- Hubbard III, G. Baker;
- Hwang, Thomas S.;
- Flaxel, Christina J.;
- Stein, Joshua D.;
- Yan, Jiong;
- Jain, Nieraj;
- Hubbard, G Baker 3rd
Publication type:
journal article
Effect of Oral Valproic Acid vs Placebo for Vision Loss in Patients With Autosomal Dominant Retinitis Pigmentosa: A Randomized Phase 2 Multicenter Placebo-Controlled Clinical Trial.
Published in:
2018
By:
- Birch, David G.;
- Bernstein, Paul S.;
- Iannacone, Alessandro;
- Pennesi, Mark E.;
- Lam, Byron L.;
- Heckenlively, John;
- Csaky, Karl;
- Hartnett, Mary Elizabeth;
- Winthrop, Kevin L.;
- Jayasundera, Thiran;
- Hughbanks-Wheaton, Dianna K.;
- Warner, Judith;
- Yang, Paul;
- Fish, Gary Edd;
- Teske, Michael P.;
- Sklaver, Neal L.;
- Erker, Laura;
- Chegarnov, Elvira;
- Smith, Travis;
- Wahle, Aimee
Publication type:
journal article
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.
Published in:
2017
By:
- Ku, Cristy A.;
- Hull, Sarah;
- Arno, Gavin;
- Vincent, Ajoy;
- Carss, Keren;
- Kayton, Robert;
- Weeks, Douglas;
- Anderson, Glenn W.;
- Geraets, Ryan;
- Parker, Camille;
- Pearce, David A.;
- Michaelides, Michel;
- MacLaren, Robert E.;
- Robson, Anthony G.;
- Holder, Graham E.;
- Heon, Elise;
- Raymond, F. Lucy;
- Moore, Anthony T.;
- Webster, Andrew R.;
- Pennesi, Mark E.
Publication type:
journal article
Molecular and Clinical Findings in Patients With Knobloch Syndrome.
Published in:
2016
By:
- Hull, Sarah;
- Arno, Gavin;
- Ku, Cristy A.;
- Zhongqi Ge;
- Waseem, Naushin;
- Chandra, Aman;
- Webster, Andrew R.;
- Robson, Anthony G.;
- Michaelides, Michel;
- Weleber, Richard G.;
- Davagnanam, Indran;
- Rui Chen;
- Holder, Graham E.;
- Pennesi, Mark E.;
- Moore, Anthony T.;
- Ge, Zhongqi;
- Chen, Rui
Publication type:
journal article
Optical Coherence Tomography Angiography in Choroideremia: Correlating Choriocapillaris Loss With Overlying Degeneration.
Published in:
2016
By:
- Jain, Nieraj;
- Jia, Yali;
- Gao, Simon S.;
- Xinbo Zhang;
- Weleber, Richard G.;
- David Huang;
- Pennesi, Mark E.;
- Zhang, Xinbo;
- Huang, David
Publication type:
journal article
Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation.
Published in:
JAMA Ophthalmology, 2015, v. 133, n. 6, p. 653, doi. 10.1001/jamaophthalmol.2015.0357
By:
- Yang, Paul;
- Pei-Wen Chiang;
- Weleber, Richard G.;
- Pennesi, Mark E.
Publication type:
Article
Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy.
Published in:
2014
By:
- Yang, Paul;
- Michaels, Keith V;
- Courtney, Robert J;
- Wen, Yuquan;
- Greninger, Daniel A;
- Reznick, Leah;
- Karr, Daniel J;
- Wilson, Lorri B;
- Weleber, Richard G;
- Pennesi, Mark E
Publication type:
journal article
Retinal Morphology of Patients With Achromatopsia During Early Childhood.
Published in:
JAMA Ophthalmology, 2014, v. 132, n. 7, p. 823, doi. 10.1001/jamaophthalmol.2014.685
By:
- Yang, Paul;
- Michaels, Keith V.;
- Courtney, Robert J.;
- Yuquan Wen;
- Greninger, Daniel A.;
- Reznick, Leah;
- Karr, Daniel J.;
- Wilson, Lorri B.;
- Weleber, Richard G.;
- Pennesi, Mark E.
Publication type:
Article
A little algae a day keeps the retinal degeneration specialist away?
Published in:
2013
By:
- Pennesi, Mark E
Publication type:
Journal Article
A Little Algae a Day Keeps the Retinal Degeneration Specialist Away?
Published in:
JAMA Ophthalmology, 2013, v. 131, n. 8, p. 983, doi. 10.1001/jamaophthalmol.2013.4468
By:
- Pennesi, Mark E.
Publication type:
Article
Interval Spectral-Domain Optical Coherence Tomography and Electrophysiology Findings in Neonatal Adrenoleukodystrophy.
Published in:
JAMA Ophthalmology, 2013, v. 131, n. 6, p. 807, doi. 10.1001/jamaophthalmol.2013.2089
By:
- Courtney, Robert J.;
- Pennesi, Mark E.
Publication type:
Article
BETA2/NeuroD1 Null Mice: A New Model for Transcription Factor-Dependent Photoreceptor Degeneration.
Published in:
Journal of Neuroscience, 2003, v. 23, n. 2, p. 453, doi. 10.1523/JNEUROSCI.23-02-00453.2003
By:
- Pennesi, Mark E.;
- Jang-Hyeon Cho;
- Zhuo Yang;
- Wu, Schonmei H.;
- Jian Zhang;
- Wu, Samuel M.;
- Ming-Jer Tsai
Publication type:
Article
Intraoperative optical coherence tomographic findings in patients undergoing subretinal gene therapy surgery.
Published in:
International Journal of Retina & Vitreous, 2020, v. 6, n. 1, p. 1, doi. 10.1186/s40942-020-00216-1
By:
- Vasconcelos, Huber M.;
- Lujan, Brandon J.;
- Pennesi, Mark E.;
- Yang, Paul;
- Lauer, Andreas K.
Publication type:
Article
Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.
Published in:
Human Molecular Genetics, 2024, v. 33, n. 11, p. 945, doi. 10.1093/hmg/ddae028
By:
- Brock, Daniel C;
- Wang, Meng;
- Hussain, Hafiz Muhammad Jafar;
- Rauch, David E;
- Marra, Molly;
- Pennesi, Mark E;
- Yang, Paul;
- Everett, Lesley;
- Ajlan, Radwan S;
- Colbert, Jason;
- Porto, Fernanda Belga Ottoni;
- Matynia, Anna;
- Gorin, Michael B;
- Koenekoop, Robert K;
- Lopez, Irma;
- Sui, Ruifang;
- Zou, Gang;
- Li, Yumei;
- Chen, Rui
Publication type:
Article
Systematic assessment of the contribution of structural variants to inherited retinal diseases.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 12, p. 2005, doi. 10.1093/hmg/ddad032
By:
- Wen, Shu;
- Wang, Meng;
- Qian, Xinye;
- Li, Yumei;
- Wang, Keqing;
- Choi, Jongsu;
- Pennesi, Mark E;
- Yang, Paul;
- Marra, Molly;
- Koenekoop, Robert K;
- Lopez, Irma;
- Matynia, Anna;
- Gorin, Michael;
- Sui, Ruifang;
- Yao, Fengxia;
- Goetz, Kerry;
- Porto, Fernanda Belga Ottoni;
- Chen, Rui
Publication type:
Article
Retinal Neuroprotective Effects of Flibanserin, an FDA-Approved Dual Serotonin Receptor Agonist-Antagonist.
Published in:
PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0159776
By:
- Coyner, Aaron S.;
- Ryals, Renee C.;
- Ku, Cristy A.;
- Fischer, Cody M.;
- Patel, Rachel C.;
- Datta, Shreya;
- Yang, Paul;
- Wen, Yuquan;
- Hen, René;
- Pennesi, Mark E.
Publication type:
Article
Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 21, p. 13361, doi. 10.3390/ijms232113361
By:
- Jimenez, Hiram J.;
- Procopio, Rebecca A.;
- Thuma, Tobin B. T.;
- Marra, Molly H.;
- Izquierdo, Natalio;
- Klufas, Michael A.;
- Nagiel, Aaron;
- Pennesi, Mark E.;
- Pulido, Jose S.
Publication type:
Article
A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants.
Published in:
2019
By:
- Shurygina, Maria F.;
- Parker, Maria A.;
- Schlechter, Catie L.;
- Chen, Rui;
- Li, Yumei;
- Weleber, Richard G.;
- Yang, Paul;
- Pennesi, Mark E.
Publication type:
journal article
Noncoding mutation in RPGRIP1 contributes to inherited retinal degenerations.
Published in:
Molecular Vision, 2021, v. 27, p. 95
By:
- Gang Zou;
- Tao Zhang;
- Xuesen Cheng;
- Igelman, Austin D.;
- Jun Wang;
- Xinye Qian;
- Shangyi Fu;
- Keqing Wang;
- Koenekoop, Robert K.;
- Fishman, Gerald A.;
- Paul Yang;
- Yumei Li;
- Pennesi, Mark E.;
- Rui Chen
Publication type:
Article
Biallelic RP1-associated retinal dystrophies: Expanding the mutational and clinical spectrum.
Published in:
Molecular Vision, 2020, v. 26, p. 423
By:
- Huckfeldt, Rachel M.;
- Grigorian, Florin;
- Place, Emily;
- Comander, Jason I.;
- Vavvas, Demetrios;
- Young, Lucy H.;
- Yang, Paul;
- Shurygina, Maria;
- Pierce, Eric A.;
- Pennesi, Mark E.
Publication type:
Article

Found: 43