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 |
0.505 |
|
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 |
0.404 |
|
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 |
0.442 |
|
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 |
0.426 |
|
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 |
0.393 |
|
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