Publications by authors named "Alexander G Bassuk"

99Publications

Whole-Exome Sequencing of Patients with Posterior Segment Uveitis.

Am J Ophthalmol 2020 Jul 21. Epub 2020 Jul 21.

Molecular Surgery Laboratory, Stanford University, Palo Alto, CA; Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA; Veterans Affairs, Palo Alto HCS. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2020.07.021DOI Listing
July 2020

Input-output connections of LJA5 prodynorphin neurons.

J Comp Neurol 2020 Jun 30. Epub 2020 Jun 30.

Department of Neurology, Roy J. and Lucille A. Carver College of Medicine, The University of Iowa, Iowa City, Iowa, USA.

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http://dx.doi.org/10.1002/cne.24974DOI Listing
June 2020

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction.

Nat Commun 2020 06 19;11(1):3150. Epub 2020 Jun 19.

The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, 3052, Australia.

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http://dx.doi.org/10.1038/s41467-020-16819-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7305203PMC
June 2020

Phenotypic variance in Calpain-5 retinal degeneration.

Am J Ophthalmol Case Rep 2020 Jun 24;18:100627. Epub 2020 Feb 24.

Omics Laboratory, Byers Eye Institute, Department of Ophthalmology, Stanford University, Palo Alto, CA, USA.

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http://dx.doi.org/10.1016/j.ajoc.2020.100627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7132063PMC
June 2020

Metabolite therapy guided by liquid biopsy proteomics delays retinal neurodegeneration.

EBioMedicine 2020 Feb 3;52:102636. Epub 2020 Feb 3.

Omics Laboratory, Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA 94304, United States; Veterans Affairs Palo Alto Health Care System, Palo Alto, CA 94304, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2020.102636DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7005447PMC
February 2020

Structural Insights into the Unique Activation Mechanisms of a Non-classical Calpain and Its Disease-Causing Variants.

Cell Rep 2020 01;30(3):881-892.e5

Omics Laboratory, Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA 94304, USA; Veterans Affairs Palo Alto Health Care System, Palo Alto, CA 94304, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2019.12.077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7001764PMC
January 2020

Hypoxic drive caused type 3 neovascularization in a preclinical model of exudative age-related macular degeneration.

Hum Mol Genet 2019 10;28(20):3475-3485

Jonas Children's Vision Care and the Bernard & Shirlee Brown Glaucoma Laboratory, Herbert Irving Comprehensive Cancer Center, New York, NY 10032, USA.

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http://dx.doi.org/10.1093/hmg/ddz159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7275777PMC
October 2019

CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials.

Hum Mutat 2019 12 26;40(12):2377-2392. Epub 2019 Aug 26.

Omics Laboratory, Byers Eye Institute, Department of Ophthalmology, Stanford University, Palo Alto, California.

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http://dx.doi.org/10.1002/humu.23894DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7493429PMC
December 2019

CRISPR Base Editing in Induced Pluripotent Stem Cells.

Methods Mol Biol 2019 ;2045:337-346

Department of Ophthalmology, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1007/7651_2019_243DOI Listing
June 2020

Proteomic insight into the pathogenesis of CAPN5-vitreoretinopathy.

Sci Rep 2019 05 20;9(1):7608. Epub 2019 May 20.

Omics Laboratory, Stanford University, Palo Alto, CA, USA.

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http://dx.doi.org/10.1038/s41598-019-44031-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6527583PMC
May 2019

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

Cell Mol Life Sci 2019 Sep 11;76(18):3657-3665. Epub 2019 Apr 11.

Jonas Children's Vision Care and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology, and Cell Biology, Columbia University, New York, NY, 10032, USA.

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http://dx.doi.org/10.1007/s00018-019-03090-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7144803PMC
September 2019

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

Invest Ophthalmol Vis Sci 2019 01;60(1):282-293

Byers Eye Institute, Omics Laboratory, Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California, United States.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.18-25624DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6735613PMC
January 2019

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

Source Code Biol Med 2018 12;13. Epub 2018 Nov 12.

1Omics Laboratory, Stanford University, Palo Alto, CA USA.

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http://dx.doi.org/10.1186/s13029-018-0070-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6233572PMC
November 2018

PROGRESSION OF SCOTOPIC SINGLE-FLASH ELECTRORETINOGRAPHY IN THE STAGES OF CAPN5 VITREORETINOPATHY.

Retin Cases Brief Rep 2018 Oct 8. Epub 2018 Oct 8.

Department of Ophthalmology, Omics Laboratory, Byers Eye Institute, Stanford University, Palo Alto, California.

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http://Insights.ovid.com/crossref?an=01271216-900000000-9874
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http://dx.doi.org/10.1097/ICB.0000000000000828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6453748PMC
October 2018

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

Free Radic Biol Med 2018 08 22;124:408-419. Epub 2018 Jun 22.

Byers Eye Institute, Department of Ophthalmology, Stanford University, Palo Alto, CA, United States; Omics Laboratory, Stanford University, Palo Alto, CA, United States; Palo Alto Veterans Administration, Palo Alto, CA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.freeradbiomed.2018.06.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6233711PMC
August 2018

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

J Neurogenet 2018 12 23;32(4):313-315. Epub 2018 May 23.

a Department of Pediatrics , The University of Iowa , Iowa City , United States.

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http://dx.doi.org/10.1080/01677063.2018.1473862DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251753PMC
December 2018

Deferoxamine-induced electronegative ERG responses.

Doc Ophthalmol 2018 08 16;137(1):15-23. Epub 2018 May 16.

Department of Ophthalmology, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1007/s10633-018-9640-3DOI Listing
August 2018

CRISPR GENOME SURGERY IN THE RETINA IN LIGHT OF OFF-TARGETING.

Retina 2018 08;38(8):1443-1455

Department of Ophthalmology, Omics Lab, Byers Eye Institute, Stanford University, Palo Alto, California.

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http://dx.doi.org/10.1097/IAE.0000000000002197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054556PMC
August 2018

Caring for Hereditary Childhood Retinal Blindness.

Asia Pac J Ophthalmol (Phila) 2018 May-Jun;7(3):183-191. Epub 2018 Mar 14.

Department of Ophthalmology, Columbia University, New York, NY.

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http://dx.doi.org/10.22608/APO.201851DOI Listing
June 2018

Autologous stem cell therapy for inherited and acquired retinal disease.

Regen Med 2018 01 23;13(1):89-96. Epub 2018 Jan 23.

Jonas Children's Vision Care & Bernard & Shirlee Brown Glaucoma Laboratory, Columbia University, New York, NY 10032, USA.

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http://dx.doi.org/10.2217/rme-2017-0089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6123878PMC
January 2018

Therapeutic drug repositioning using personalized proteomics of liquid biopsies.

JCI Insight 2017 12 21;2(24). Epub 2017 Dec 21.

Omics Laboratory, Stanford University, Palo Alto, California, USA.

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http://dx.doi.org/10.1172/jci.insight.97818DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5752263PMC
December 2017

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

Am J Ophthalmol 2018 02 13;186:152-163. Epub 2017 Dec 13.

Omics Laboratory, Stanford University, Palo Alto, California; Byers Eye Institute, Department of Ophthalmology, Stanford University, Palo Alto, California; Palo Alto Veterans Administration, Palo Alto, California. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2017.11.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5805631PMC
February 2018

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

BMC Res Notes 2017 Nov 21;10(1):602. Epub 2017 Nov 21.

Omics Laboratory, Department of Ophthalmology, Byers Eye Institute, Stanford University, Palo Alto, CA, 94304, USA.

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http://dx.doi.org/10.1186/s13104-017-2927-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5697233PMC
November 2017

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

J Vis Exp 2017 11 12(129). Epub 2017 Nov 12.

Omics Laboratory, Byers Eye Institute, Department of Ophthalmology, Stanford University; Palo Alto Veterans Administration, Palo Alto, CA;

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http://dx.doi.org/10.3791/56203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5755368PMC
November 2017

CRISPR-mediated Ophthalmic Genome Surgery.

Curr Ophthalmol Rep 2017 Sep 15;5(3):199-206. Epub 2017 Jun 15.

Omics Laboratory, Stanford University, Palo Alto, CA, USA.

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http://dx.doi.org/10.1007/s40135-017-0144-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5613978PMC
September 2017

Proteomic Analysis of Elevated Intraocular Pressure with Retinal Detachment.

Am J Ophthalmol Case Rep 2017 Apr 3;5:107-110. Epub 2017 Jan 3.

Omics Laboratory, University of Iowa, Iowa City, IA.

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http://dx.doi.org/10.1016/j.ajoc.2016.12.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5560621PMC
April 2017

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

Hum Mol Genet 2016 10 11;25(19):4244-4255. Epub 2016 Aug 11.

Barbara & Donald Jonas Stem Cell & Regenerative Medicine Laboratory, and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology and Pathology & Cell Biology, Institute of Human Nutrition, Herbert Irving Comprehensive Cancer Center, Columbia University, New York, NY, USA

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http://dx.doi.org/10.1093/hmg/ddw256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291198PMC
October 2016

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

Ann Clin Transl Neurol 2016 09 3;3(9):695-707. Epub 2016 Aug 3.

Interdisciplinary Graduate Program in Genetics University of Iowa Iowa City Iowa; Department of Biology University of Iowa Iowa City Iowa; Interdisciplinary Graduate Program in Neuroscience University of Iowa Iowa City Iowa; Department of Pediatrics University of Iowa Iowa City Iowa.

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http://dx.doi.org/10.1002/acn3.334DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018582PMC
September 2016

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

Dev Biol 2016 11 6;419(2):298-310. Epub 2016 Sep 6.

Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Ophthalmology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ydbio.2016.09.004DOI Listing
November 2016

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

Hum Mol Genet 2016 10 11;25(19):4201-4210. Epub 2016 Aug 11.

Barbara & Donald Jonas Stem Cell Laboratory, and Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology & Cell Biology, Institute of Human Nutrition, Irving Comprehensive Cancer Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA

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http://dx.doi.org/10.1093/hmg/ddw253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291196PMC
October 2016

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

J Struct Biol 2016 12 27;196(3):309-318. Epub 2016 Jul 27.

Omics Lab, University of Iowa, Iowa City, IA, USA; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jsb.2016.07.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5118095PMC
December 2016

Secondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy.

Clin Ophthalmol 2016 27;10:1187-97. Epub 2016 Jun 27.

Department of Ophthalmology and Visual Sciences; Omics Laboratory, University of Iowa, Iowa City, IA, USA.

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http://dx.doi.org/10.2147/OPTH.S103324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4930228PMC
July 2016

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

Mol Ther 2016 08 20;24(8):1388-94. Epub 2016 May 20.

Barbara and Donald Jonas Stem Cell and Regenerative Medicine Laboratory and Bernard and Shirlee Brown Glaucoma Laboratory, Department of Ophthalmology, Institute of Human Nutrition, Herbert Irving Comprehensive Cancer Center, Columbia University, New York, New York, USA.

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http://dx.doi.org/10.1038/mt.2016.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023380PMC
August 2016

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

Signal Transduct Target Ther 2016;1. Epub 2016 Apr 22.

Bernard and Shirlee Brown Glaucoma Laboratory and Barbara & Donald Jonas Laboratory of Regenerative Medicine, Columbia University, New York, NY, USA; Edward S. Harkness Eye Institute, Columbia University, New York, NY, USA; Institute of Human Nutrition, Columbia University, New York, NY, USA; New York Presbyterian Hospital/Columbia University Medical Center, New York, NY, USA; Department of Pathology and Cellular Biology, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1038/sigtrans.2016.5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4868361PMC
April 2016

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

Hum Mol Genet 2016 07 18;25(13):2672-2680. Epub 2016 May 18.

Barbara & Donald Jonas Laboratory of Regenerative Medicine, and Bernard & Shirlee Brown Glaucoma Laboratory, Department of Pathology & Cell Biology, Institute of Human Nutrition, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddw126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5181636PMC
July 2016

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

Invest Ophthalmol Vis Sci 2016 05;57(6):2509-21

Omics Laboratory, University of Iowa, Iowa City, Iowa, United States 2Department of Ophthalmology & Visual Sciences, University of Iowa, Iowa City, Iowa, United States.

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http://dx.doi.org/10.1167/iovs.15-18680DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4868102PMC
May 2016

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

Am J Hum Genet 2016 Mar;98(3):590-591

Interdisciplinary Programs in Genetics, Neuroscience, and Molecular and Cellular Biology, Department of Pediatrics and Neurology, University of Iowa, Iowa City, IA 52242, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800048PMC
March 2016

Autism Linked to Increased Oncogene Mutations but Decreased Cancer Rate.

PLoS One 2016 2;11(3):e0149041. Epub 2016 Mar 2.

Interdisciplinary Program in Genetics, University of Iowa, Iowa City, Iowa, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0149041PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774916PMC
July 2016

Precision Medicine: Personalized Proteomics for the Diagnosis and Treatment of Idiopathic Inflammatory Disease.

JAMA Ophthalmol 2016 Apr;134(4):444-8

Omics Laboratory, University of Iowa Carver College of Medicine, Iowa City2Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City.

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http://dx.doi.org/10.1001/jamaophthalmol.2015.5934DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4833518PMC
April 2016

Precision Medicine: Genetic Repair of Retinitis Pigmentosa in Patient-Derived Stem Cells.

Sci Rep 2016 Jan 27;6:19969. Epub 2016 Jan 27.

Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA.

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http://dx.doi.org/10.1038/srep19969DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4728485PMC
January 2016

A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria.

J Neurogenet 2015 4;29(4):174-7. Epub 2016 Jan 4.

b Department of Neurology , University of California, San Francisco , San Francisco , CA , USA.

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http://dx.doi.org/10.3109/01677063.2015.1088847DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4813514PMC
October 2016

Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachment.

PLoS One 2015 9;10(4):e0122352. Epub 2015 Apr 9.

Omics Lab, University of Iowa, Iowa City, IA, United States of America; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0122352PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4391918PMC
April 2016

Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.

PLoS Genet 2015 Mar 12;11(3):e1005022. Epub 2015 Mar 12.

Department of Pediatrics, The University of Iowa, Iowa City, Iowa, United States of America; Interdisciplinary Program in Genetics, The University of Iowa, Iowa City, Iowa, United States of America; Roy J. and Lucille A. Carver College of Medicine, The University of Iowa, Iowa City, Iowa, United States of America; Interdisciplinary Graduate Program in Molecular and Cellular Biology, The University of Iowa, Iowa City, Iowa, United States of America; Interdisciplinary Graduate Program in Neuroscience, The University of Iowa, Iowa City, Iowa, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357451PMC
March 2015

Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?

Tremor Other Hyperkinet Mov (N Y) 2014 20;4:258. Epub 2014 Oct 20.

Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA, USA ; Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.

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http://dx.doi.org/10.7916/D8FB51G3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4219111PMC
November 2014

P7C3 neuroprotective chemicals block axonal degeneration and preserve function after traumatic brain injury.

Cell Rep 2014 Sep 15;8(6):1731-1740. Epub 2014 Sep 15.

Department of Psychiatry, University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USA; Department of Neurology, University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USA; Interdisciplinary Graduate Program in Human Toxicology, University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USA; Department of Veterans Affairs Center for the Prevention and Treatment of Visual Loss, Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USA. Electronic address:

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http://www.cell.com/cell-reports/pdf/S2211-1247(14)00706-2.p
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http://linkinghub.elsevier.com/retrieve/pii/S221112471400706
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http://dx.doi.org/10.1016/j.celrep.2014.08.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4206693PMC
September 2014

prickle modulates microtubule polarity and axonal transport to ameliorate seizures in flies.

Proc Natl Acad Sci U S A 2014 Jul 14;111(30):11187-92. Epub 2014 Jul 14.

Interdisciplinary Graduate Programs in Genetics,Departments of Biology andPediatrics, University of Iowa, Iowa City, IA 52242;

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http://dx.doi.org/10.1073/pnas.1403357111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121842PMC
July 2014

Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms.

Dev Biol 2014 Aug 2;392(2):245-55. Epub 2014 Jun 2.

Department of Biology, University of Iowa, Iowa City, IA 52242, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ydbio.2014.05.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4114335PMC
August 2014

Prickle1 is necessary for the caudal migration of murine facial branchiomotor neurons.

Cell Tissue Res 2014 Sep 15;357(3):549-61. Epub 2014 Jun 15.

Department of Biology, University of Iowa, Iowa City, IA, 52242, USA.

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http://dx.doi.org/10.1007/s00441-014-1925-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4149827PMC
September 2014

Defective motile cilia in Prickle2-deficient mice.

J Neurogenet 2014 Mar-Jun;28(1-2):146-52. Epub 2014 Apr 7.

Department of Neurology, The University of Iowa , Iowa City, Iowa , USA.

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http://dx.doi.org/10.3109/01677063.2014.885966DOI Listing
January 2015

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

A novel RPGR mutation masquerading as Stargardt disease.

Br J Ophthalmol 2014 May 31;98(5):709-11. Epub 2014 Jan 31.

Department of Pediatrics, University of Iowa, , Iowa City, Iowa, USA.

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http://dx.doi.org/10.1136/bjophthalmol-2013-304822DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170590PMC
May 2014

Inflammasome-independent IL-1β mediates autoinflammatory disease in Pstpip2-deficient mice.

Proc Natl Acad Sci U S A 2014 Jan 6;111(3):1072-7. Epub 2014 Jan 6.

Inflammation Program, Department of Internal Medicine, Graduate Program in Immunology, Department of Pediatrics, Department of Pathology, Department of Orthopedics, Dows Institute for Dental Research and Department of Periodontics, College of Dentistry, and Department of Epidemiology, University of Iowa, Iowa City, IA 52242.

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http://dx.doi.org/10.1073/pnas.1318685111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3903222PMC
January 2014

Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.

Hum Mol Genet 2014 May 30;23(10):2665-77. Epub 2013 Dec 30.

Bernard and Shirlee Brown Glaucoma Laboratory, Department of Pathology and Cell Biology, College of Physicians and Surgeons.

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http://dx.doi.org/10.1093/hmg/ddt661DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990166PMC
May 2014

PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.

PLoS One 2013 3;8(12):e80737. Epub 2013 Dec 3.

The University of Iowa, Iowa City, Iowa, United States of America ; Department of Pediatrics, The University of Iowa, Iowa City, Iowa, United States of America ; Interdisciplinary Program in Genetics, The University of Iowa, Iowa City, Iowa, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0080737PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3849077PMC
August 2014

Prickle1 stunts limb growth through alteration of cell polarity and gene expression.

Dev Dyn 2013 Nov 6;242(11):1293-306. Epub 2013 Sep 6.

Department of Biology, University of Iowa, Iowa City, Iowa.

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http://dx.doi.org/10.1002/dvdy.24025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3985166PMC
November 2013

Is LMNB1 a susceptibility gene for neural tube defects in humans?

Birth Defects Res A Clin Mol Teratol 2013 Jun 3;97(6):398-402. Epub 2013 Jun 3.

Neural Development Unit and Newlife Birth Defects Research Centre, Institute of Child Health, University College London, United Kingdom.

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http://dx.doi.org/10.1002/bdra.23141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738925PMC
June 2013

Presence of epilepsy-associated variants in large exome databases.

J Neurogenet 2013 Jun 25;27(1-2):1-4. Epub 2013 Mar 25.

Department of Pediatrics, The University of Iowa, Iowa City, Iowa, USA.

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http://dx.doi.org/10.3109/01677063.2013.772176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3672316PMC
June 2013

Mechanisms of prickle1a function in zebrafish epilepsy and retinal neurogenesis.

Dis Model Mech 2013 May 11;6(3):679-88. Epub 2013 Jan 11.

Department of Biology, University of Iowa, Iowa City, IA 52242, USA.

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http://dmm.biologists.org/cgi/doi/10.1242/dmm.010793
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http://dx.doi.org/10.1242/dmm.010793DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3634651PMC
May 2013

Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy.

Clin Ophthalmol 2012 6;6:2037-44. Epub 2012 Dec 6.

Omics Laboratory, University of Iowa, Iowa City, IA, USA ; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA.

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http://dx.doi.org/10.2147/OPTH.S40086DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3526908PMC
December 2012

Nuclear localization of Prickle2 is required to establish cell polarity during early mouse embryogenesis.

Dev Biol 2012 Apr 4;364(2):138-48. Epub 2012 Feb 4.

Laboratory for Animal Resources and Genetic Engineering, RIKEN Center for Developmental Biology (CDB), Chuo-ku, Kobe, Japan.

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http://dx.doi.org/10.1016/j.ydbio.2012.01.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3299875PMC
April 2012

Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects.

Hum Mutat 2011 Dec 23;32(12):1371-5. Epub 2011 Sep 23.

Department of Obstetrics and Gynecology, CHU Sainte Justine Research Center and University of Montreal, Montreal, Canada.

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http://dx.doi.org/10.1002/humu.21589DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3217084PMC
December 2011

HeyL promotes neuronal differentiation of neural progenitor cells.

J Neurosci Res 2011 Mar 5;89(3):299-309. Epub 2011 Jan 5.

Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

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http://dx.doi.org/10.1002/jnr.22562DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3079914PMC
March 2011