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In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.

Cox AJ, Grady F, Velez G, Mahajan VB, Ferguson PJ, Kitchen A, Darbro BW, Bassuk AG.

Genet Res (Camb). 2019 Jun 13;101:e8. doi: 10.1017/S0016672319000065.


Gain-of-function mutations in a member of the Src family kinases cause autoinflammatory bone disease in mice and humans.

Abe K, Cox A, Takamatsu N, Velez G, Laxer RM, Tse SML, Mahajan VB, Bassuk AG, Fuchs H, Ferguson PJ, Hrabe de Angelis M.

Proc Natl Acad Sci U S A. 2019 Jun 11;116(24):11872-11877. doi: 10.1073/pnas.1819825116. Epub 2019 May 28.


Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy.

Velez G, Yang J, Li AS, Tsang SH, Bassuk AG, Mahajan VB.

Sci Rep. 2019 May 20;9(1):7608. doi: 10.1038/s41598-019-44031-7.


Insights into Retinal Development Using Live Imaging in Female Carriers of Choroideremia.

Wert KJ, Bakall B, Bassuk AG, Tsang SH, Mahajan VB.

Ophthalmic Surg Lasers Imaging Retina. 2019 May 1;50(5):e158-e162. doi: 10.3928/23258160-20190503-15.


Mechanisms of neurodegeneration in a preclinical autosomal dominant retinitis pigmentosa knock-in model with a RhoD190N mutation.

Sancho-Pelluz J, Cui X, Lee W, Tsai YT, Wu WH, Justus S, Washington I, Hsu CW, Park KS, Koch S, Velez G, Bassuk AG, Mahajan VB, Lin CS, Tsang SH.

Cell Mol Life Sci. 2019 Apr 11. doi: 10.1007/s00018-019-03090-9. [Epub ahead of print]


Drug repositioning in epilepsy reveals novel antiseizure candidates.

Brueggeman L, Sturgeon ML, Martin RM, Grossbach AJ, Nagahama Y, Zhang A, Howard MA 3rd, Kawasaki H, Wu S, Cornell RA, Michaelson JJ, Bassuk AG.

Ann Clin Transl Neurol. 2018 Dec 11;6(2):295-309. doi: 10.1002/acn3.703. eCollection 2019 Feb.


Optical Coherence Tomography Angiography of RPGR-Associated Retinitis Pigmentosa Suggests Foveal Avascular Zone is a Biomarker for Vision Loss.

Tang PH, Jauregui R, Tsang SH, Bassuk AG, Mahajan VB.

Ophthalmic Surg Lasers Imaging Retina. 2019 Feb 1;50(2):e44-e48. doi: 10.3928/23258160-20190129-18.


The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.

Kousa YA, Zhu H, Fakhouri WD, Lei Y, Kinoshita A, Roushangar RR, Patel NK, Agopian AJ, Yang W, Leslie EJ, Busch TD, Mansour TA, Li X, Smith AL, Li EB, Sharma DB, Williams TJ, Chai Y, Amendt BA, Liao EC, Mitchell LE, Bassuk AG, Gregory S, Ashley-Koch A, Shaw GM, Finnell RH, Schutte BC.

Hum Mol Genet. 2019 Jan 25. doi: 10.1093/hmg/ddz010. [Epub ahead of print]


VCAN Canonical Splice Site Mutation is Associated With Vitreoretinal Degeneration and Disrupts an MMP Proteolytic Site.

Tang PH, Velez G, Tsang SH, Bassuk AG, Mahajan VB.

Invest Ophthalmol Vis Sci. 2019 Jan 2;60(1):282-293. doi: 10.1167/iovs.18-25624.


ProSave: an application for restoring quantitative data to manipulated subsets of protein lists.

Machlab DA, Velez G, Bassuk AG, Mahajan VB.

Source Code Biol Med. 2018 Nov 12;13:3. doi: 10.1186/s13029-018-0070-0. eCollection 2018.



Tang PH, Kinnick TR, Folk JC, Mahajan M, Bassuk AG, Tsang SH, Mahajan VB.

Retin Cases Brief Rep. 2018 Oct 8. doi: 10.1097/ICB.0000000000000828. [Epub ahead of print]


Personalized Proteomics for Precision Health: Identifying Biomarkers of Vitreoretinal Disease.

Velez G, Tang PH, Cabral T, Cho GY, Machlab DA, Tsang SH, Bassuk AG, Mahajan VB.

Transl Vis Sci Technol. 2018 Sep 26;7(5):12. doi: 10.1167/tvst.7.5.12. eCollection 2018 Sep.


Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity.

Liu KY, Sengillo JD, Velez G, Jauregui R, Sakai LY, Maumenee IH, Bassuk AG, Mahajan VB, Tsang SH.

Orphanet J Rare Dis. 2018 Aug 15;13(1):138. doi: 10.1186/s13023-018-0885-4.


Extracellular superoxide dismutase (SOD3) regulates oxidative stress at the vitreoretinal interface.

Wert KJ, Velez G, Cross MR, Wagner BA, Teoh-Fitzgerald ML, Buettner GR, McAnany JJ, Olivier A, Tsang SH, Harper MM, Domann FE, Bassuk AG, Mahajan VB.

Free Radic Biol Med. 2018 Aug 20;124:408-419. doi: 10.1016/j.freeradbiomed.2018.06.024. Epub 2018 Jun 22.


A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder.

Todd BP, Bassuk AG.

J Neurogenet. 2018 Dec;32(4):313-315. doi: 10.1080/01677063.2018.1473862. Epub 2018 May 23.


Deferoxamine-induced electronegative ERG responses.

Jauregui R, Park KS, Bassuk AG, Mahajan VB, Tsang SH.

Doc Ophthalmol. 2018 Aug;137(1):15-23. doi: 10.1007/s10633-018-9640-3. Epub 2018 May 16.



Cho GY, Schaefer KA, Bassuk AG, Tsang SH, Mahajan VB.

Retina. 2018 Aug;38(8):1443-1455. doi: 10.1097/IAE.0000000000002197. Review.


HTRA1, an age-related macular degeneration protease, processes extracellular matrix proteins EFEMP1 and TSP1.

Lin MK, Yang J, Hsu CW, Gore A, Bassuk AG, Brown LM, Colligan R, Sengillo JD, Mahajan VB, Tsang SH.

Aging Cell. 2018 Aug;17(4):e12710. doi: 10.1111/acel.12710. Epub 2018 May 5.


Combined Blockade of Interleukin-1α and -1β Signaling Protects Mice from Cognitive Dysfunction after Traumatic Brain Injury.

Newell EA, Todd BP, Mahoney J, Pieper AA, Ferguson PJ, Bassuk AG.

eNeuro. 2018 Apr 13;5(2). pii: ENEURO.0385-17.2018. doi: 10.1523/ENEURO.0385-17.2018. eCollection 2018 Mar-Apr.


Acute vitreoretinal trauma and inflammation after traumatic brain injury in mice.

Evans LP, Newell EA, Mahajan M, Tsang SH, Ferguson PJ, Mahoney J, Hue CD, Vogel EW 3rd, Morrison B 3rd, Arancio O, Nichols R, Bassuk AG, Mahajan VB.

Ann Clin Transl Neurol. 2018 Feb 26;5(3):240-251. doi: 10.1002/acn3.523. eCollection 2018 Mar.


Caring for Hereditary Childhood Retinal Blindness.

Jauregui R, Cho GY, Takahashi VKL, Takiuti JT, Bassuk AG, Mahajan VB, Tsang SH.

Asia Pac J Ophthalmol (Phila). 2018 May-Jun;7(3):183-191. doi: 10.22608/APO.201851. Epub 2018 Mar 14. Review.


A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.

Velez G, Bassuk AG, Schaefer KA, Brooks B, Gakhar L, Mahajan M, Kahn P, Tsang SH, Ferguson PJ, Mahajan VB.

Cold Spring Harb Mol Case Stud. 2018 Jun 1;4(3). pii: a002519. doi: 10.1101/mcs.a002519. Print 2018 Jun.


Proteomic analysis of the human retina reveals region-specific susceptibilities to metabolic- and oxidative stress-related diseases.

Velez G, Machlab DA, Tang PH, Sun Y, Tsang SH, Bassuk AG, Mahajan VB.

PLoS One. 2018 Feb 21;13(2):e0193250. doi: 10.1371/journal.pone.0193250. eCollection 2018.


Autologous stem cell therapy for inherited and acquired retinal disease.

Apatoff MBL, Sengillo JD, White EC, Bakhoum MF, Bassuk AG, Mahajan VB, Tsang SH.

Regen Med. 2018 Jan;13(1):89-96. doi: 10.2217/rme-2017-0089. Epub 2018 Jan 23. Review.


Therapeutic drug repositioning using personalized proteomics of liquid biopsies.

Velez G, Bassuk AG, Colgan D, Tsang SH, Mahajan VB.

JCI Insight. 2017 Dec 21;2(24). pii: 97818. doi: 10.1172/jci.insight.97818.


Personalized Proteomics in Proliferative Vitreoretinopathy Implicate Hematopoietic Cell Recruitment and mTOR as a Therapeutic Target.

Roybal CN, Velez G, Toral MA, Tsang SH, Bassuk AG, Mahajan VB.

Am J Ophthalmol. 2018 Feb;186:152-163. doi: 10.1016/j.ajo.2017.11.025. Epub 2017 Dec 13.


CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa: A Brief Methodology.

Wu WH, Tsai YT, Justus S, Cho GY, Sengillo JD, Xu Y, Cabral T, Lin CS, Bassuk AG, Mahajan VB, Tsang SH.

Methods Mol Biol. 2018;1715:191-205. doi: 10.1007/978-1-4939-7522-8_13.


Gene Therapy Restores Mfrp and Corrects Axial Eye Length.

Velez G, Tsang SH, Tsai YT, Hsu CW, Gore A, Abdelhakim AH, Mahajan M, Silverman RH, Sparrow JR, Bassuk AG, Mahajan VB.

Sci Rep. 2017 Nov 23;7(1):16151. doi: 10.1038/s41598-017-16275-8.


Calpain-5 gene expression in the mouse eye and brain.

Schaefer K, Mahajan M, Gore A, Tsang SH, Bassuk AG, Mahajan VB.

BMC Res Notes. 2017 Nov 21;10(1):602. doi: 10.1186/s13104-017-2927-8.


Dissection of Human Retina and RPE-Choroid for Proteomic Analysis.

Cabral T, Toral MA, Velez G, DiCarlo JE, Gore AM, Mahajan M, Tsang SH, Bassuk AG, Mahajan VB.

J Vis Exp. 2017 Nov 12;(129). doi: 10.3791/56203.


CRISPR-mediated Ophthalmic Genome Surgery.

Cho GY, Abdulla Y, Sengillo JD, Justus S, Schaefer KA, Bassuk AG, Tsang SH, Mahajan VB.

Curr Ophthalmol Rep. 2017 Sep;5(3):199-206. doi: 10.1007/s40135-017-0144-1. Epub 2017 Jun 15.


Prickle1 regulates neurite outgrowth of apical spiral ganglion neurons but not hair cell polarity in the murine cochlea.

Yang T, Kersigo J, Wu S, Fritzsch B, Bassuk AG.

PLoS One. 2017 Aug 24;12(8):e0183773. doi: 10.1371/journal.pone.0183773. eCollection 2017.


Proteomic Analysis of Elevated Intraocular Pressure with Retinal Detachment.

Velez G, Roybal CN, Binkley E, Bassuk AG, Tsang SH, Mahajan VB.

Am J Ophthalmol Case Rep. 2017 Apr;5:107-110. doi: 10.1016/j.ajoc.2016.12.023. Epub 2017 Jan 3.


Correction: Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).

Cox AJ, Darbro BW, Laxer RM, Velez G, Bing X, Finer AL, Erives A, Mahajan VB, Bassuk AG, Ferguson PJ.

PLoS One. 2017 Jul 7;12(7):e0181222. doi: 10.1371/journal.pone.0181222. eCollection 2017.


Unexpected mutations after CRISPR-Cas9 editing in vivo.

Schaefer KA, Wu WH, Colgan DF, Tsang SH, Bassuk AG, Mahajan VB.

Nat Methods. 2017 May 30;14(6):547-548. doi: 10.1038/nmeth.4293. No abstract available.


Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia.

Toral MA, Velez G, Boudreault K, Schaefer KA, Xu Y, Saffra N, Bassuk AG, Tsang SH, Mahajan VB.

Mol Genet Genomic Med. 2017 Feb 26;5(3):202-209. doi: 10.1002/mgg3.266. eCollection 2017 May.


Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO).

Cox AJ, Darbro BW, Laxer RM, Velez G, Bing X, Finer AL, Erives A, Mahajan VB, Bassuk AG, Ferguson PJ.

PLoS One. 2017 Mar 16;12(3):e0169687. doi: 10.1371/journal.pone.0169687. eCollection 2017. Erratum in: PLoS One. 2017 Jul 7;12 (7):e0181222.


Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy.

Kambouris M, Thevenon J, Soldatos A, Cox A, Stephen J, Ben-Omran T, Al-Sarraj Y, Boulos H, Bone W, Mullikin JC; NISC Comparative Sequencing Program, Masurel-Paulet A, St-Onge J, Dufford Y, Chantegret C, Thauvin-Robinet C, Al-Alami J, Faivre L, Riviere JB, Gahl WA, Bassuk AG, Malicdan MC, El-Shanti H.

Ann Clin Transl Neurol. 2016 Dec 20;4(1):26-35. doi: 10.1002/acn3.372. eCollection 2017 Jan.


Reprogramming towards anabolism impedes degeneration in a preclinical model of retinitis pigmentosa.

Zhang L, Justus S, Xu Y, Pluchenik T, Hsu CW, Yang J, Duong JK, Lin CS, Jia Y, Bassuk AG, Mahajan VB, Tsang SH.

Hum Mol Genet. 2016 Oct 1;25(19):4244-4255. doi: 10.1093/hmg/ddw256. Epub 2016 Aug 11.


Mutation of orthologous prickle genes causes a similar epilepsy syndrome in flies and humans.

Ehaideb SN, Wignall EA, Kasuya J, Evans WH, Iyengar A, Koerselman HL, Lilienthal AJ, Bassuk AG, Kitamoto T, Manak JR.

Ann Clin Transl Neurol. 2016 Aug 3;3(9):695-707. doi: 10.1002/acn3.334. eCollection 2016 Sep.


Patterning of papillae on the mouse tongue: A system for the quantitative assessment of planar cell polarity signaling.

Wang Y, Williams J, Rattner A, Wu S, Bassuk AG, Goffinet AM, Nathans J.

Dev Biol. 2016 Nov 15;419(2):298-310. doi: 10.1016/j.ydbio.2016.09.004. Epub 2016 Sep 6.


Catenin delta-1 (CTNND1) phosphorylation controls the mesenchymal to epithelial transition in astrocytic tumors.

Yang J, Bassuk AG, Merl-Pham J, Hsu CW, Colgan DF, Li X, Au KS, Zhang L, Smemo S, Justus S, Nagahama Y, Grossbach AJ, Howard MA 3rd, Kawasaki H, Feldstein NA, Dobyns WB, Northrup H, Hauck SM, Ueffing M, Mahajan VB, Tsang SH.

Hum Mol Genet. 2016 Oct 1;25(19):4201-4210. doi: 10.1093/hmg/ddw253. Epub 2016 Aug 11.


Small-angle X-ray scattering of calpain-5 reveals a highly open conformation among calpains.

Gakhar L, Bassuk AG, Velez G, Khan S, Yang J, Tsang SH, Mahajan VB.

J Struct Biol. 2016 Dec;196(3):309-318. doi: 10.1016/j.jsb.2016.07.017. Epub 2016 Jul 27.


Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy.

Cham A, Bansal M, Banda HK, Kwon Y, Tlucek PS, Bassuk AG, Tsang SH, Sobol WM, Folk JC, Yeh S, Mahajan VB.

Clin Ophthalmol. 2016 Jun 27;10:1187-97. doi: 10.2147/OPTH.S103324. eCollection 2016.


CRISPR Repair Reveals Causative Mutation in a Preclinical Model of Retinitis Pigmentosa.

Wu WH, Tsai YT, Justus S, Lee TT, Zhang L, Lin CS, Bassuk AG, Mahajan VB, Tsang SH.

Mol Ther. 2016 Aug;24(8):1388-94. doi: 10.1038/mt.2016.107. Epub 2016 May 20.


Neuroretinal hypoxic signaling in a new preclinical murine model for proliferative diabetic retinopathy.

Wert KJ, Mahajan VB, Zhang L, Yan Y, Li Y, Tosi J, Hsu CW, Nagasaki T, Janisch KM, Grant MB, Mahajan M, Bassuk AG, Tsang SH.

Signal Transduct Target Ther. 2016;1. pii: 16005. Epub 2016 Apr 22.


BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE.

Moshfegh Y, Velez G, Li Y, Bassuk AG, Mahajan VB, Tsang SH.

Hum Mol Genet. 2016 Jul 1;25(13):2672-2680. Epub 2016 May 18.


Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.

Schaefer KA, Toral MA, Velez G, Cox AJ, Baker SA, Borcherding NC, Colgan DF, Bondada V, Mashburn CB, Yu CG, Geddes JW, Tsang SH, Bassuk AG, Mahajan VB.

Invest Ophthalmol Vis Sci. 2016 May 1;57(6):2509-21. doi: 10.1167/iovs.15-18680.


Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine.

Mahajan VB, Bassuk AG.

Am J Hum Genet. 2016 Mar 3;98(3):590-591. doi: 10.1016/j.ajhg.2016.02.002. No abstract available.


Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate.

Darbro BW, Singh R, Zimmerman MB, Mahajan VB, Bassuk AG.

PLoS One. 2016 Mar 2;11(3):e0149041. doi: 10.1371/journal.pone.0149041. eCollection 2016.

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