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Page 1
Analysis of ocular hypopigmentation in Rab38cht/cht mice.
Brooks BP, Larson DM, Chan CC, Kjellstrom S, Smith RS, Crawford MA, Lamoreux L, Huizing M, Hess R, Jiao X, Hejtmancik JF, Maminishkis A, John SW, Bush R, Pavan WJ. Brooks BP, et al. Invest Ophthalmol Vis Sci. 2007 Sep;48(9):3905-13. doi: 10.1167/iovs.06-1464. Invest Ophthalmol Vis Sci. 2007. PMID: 17724166 Free PMC article.
Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells.
May-Simera HL, Wan Q, Jha BS, Hartford J, Khristov V, Dejene R, Chang J, Patnaik S, Lu Q, Banerjee P, Silver J, Insinna-Kettenhofen C, Patel D, Lotfi M, Malicdan M, Hotaling N, Maminishkis A, Sridharan R, Brooks B, Miyagishima K, Gunay-Aygun M, Pal R, Westlake C, Miller S, Sharma R, Bharti K. May-Simera HL, et al. Cell Rep. 2018 Jan 2;22(1):189-205. doi: 10.1016/j.celrep.2017.12.038. Cell Rep. 2018. PMID: 29298421 Free PMC article.
Longitudinal adaptive optics fluorescence microscopy reveals cellular mosaicism in patients.
Jung H, Liu J, Liu T, George A, Smelkinson MG, Cohen S, Sharma R, Schwartz O, Maminishkis A, Bharti K, Cukras C, Huryn LA, Brooks BP, Fariss R, Tam J. Jung H, et al. Among authors: brooks bp. JCI Insight. 2019 Mar 21;4(6):e124904. doi: 10.1172/jci.insight.124904. eCollection 2019 Mar 21. JCI Insight. 2019. PMID: 30895942 Free PMC article.
Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation.
Weisschuh N, Sturm M, Baumann B, Audo I, Ayuso C, Bocquet B, Branham K, Brooks BP, Catalá-Mora J, Giorda R, Heckenlively JR, Hufnagel RB, Jacobson SG, Kellner U, Kitsiou-Tzeli S, Matet A, Martorell Sampol L, Meunier I, Rudolph G, Sharon D, Stingl K, Streubel B, Varsányi B, Wissinger B, Kohl S. Weisschuh N, et al. Among authors: brooks bp. Hum Mutat. 2020 Jan;41(1):255-264. doi: 10.1002/humu.23920. Epub 2019 Sep 30. Hum Mutat. 2020. PMID: 31544997 Free PMC article.
High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma.
Kalaskar VK, Alur RP, Li LK, Thomas JW, Sergeev YV, Blain D, Hufnagel RB, Cogliati T, Brooks BP. Kalaskar VK, et al. Among authors: brooks bp. Hum Mutat. 2020 Mar;41(3):678-695. doi: 10.1002/humu.23954. Epub 2019 Dec 9. Hum Mutat. 2020. PMID: 31816153 Free PMC article.
Atypical and ultra-rare Usher syndrome: a review.
Nolen RM, Hufnagel RB, Friedman TB, Turriff AE, Brewer CC, Zalewski CK, King KA, Wafa TT, Griffith AJ, Brooks BP, Zein WM. Nolen RM, et al. Among authors: brooks bp. Ophthalmic Genet. 2020 Oct;41(5):401-412. doi: 10.1080/13816810.2020.1747090. Epub 2020 May 6. Ophthalmic Genet. 2020. PMID: 32372680 Free PMC article. Review.
171 results