Laura Bryant - Publications

Affiliations: 
2012-2017 Ophthalmology University of Pennsylvania, Philadelphia, PA, United States 

5 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2023 Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, Watson CJ, Faundes V, Duffourd Y, Lee P, Simon MC, de la Cruz X, Padilla N, Flores-Mendez M, et al. Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science Advances. 9: eade1463. PMID 36897941 DOI: 10.1126/sciadv.ade1463  0.506
2018 Bryant L, Lozynska O, Marsh A, Papp TE, van Gorder L, Serrano LW, Gai X, Maguire AM, Aleman TS, Bennett J. Identification of a novel pathogenic missense mutation in using whole exome sequencing: a case report. The British Journal of Ophthalmology. PMID 30030392 DOI: 10.1136/Bjophthalmol-2017-311405  0.405
2018 Bryant L, Lozynska O, Maguire AM, Aleman TS, Bennett J. Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration. Clinical Ophthalmology (Auckland, N.Z.). 12: 49-63. PMID 29343940 DOI: 10.2147/Opth.S147684  0.444
2017 Bryant L, Lozynska O, Han G, Morgan JIW, Gai X, Maguire AM, Aleman T, Bennett J. On variants and disease-causing mutations: Case studies of a SEMA4A variant identified in inherited blindness. Ophthalmic Genetics. 1-3. PMID 28805479 DOI: 10.1080/13816810.2017.1354384  0.427
2013 Bryant LM, Christopher DM, Giles AR, Hinderer C, Rodriguez JL, Smith JB, Traxler EA, Tycko J, Wojno AP, Wilson JM. Lessons learned from the clinical development and market authorization of Glybera. Human Gene Therapy. Clinical Development. 24: 55-64. PMID 23808604 DOI: 10.1089/Humc.2013.087  0.397
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