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431
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Copy Number Variations and Primary Open-Angle Glaucoma
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Davis, Lea K.;
Meyer, Kacie J.;
Schindler, Emily I.;
Beck, John S.;
Rudd, Danielle S.;
Grundstad, A. Jason;
Scheetz, Todd E.;
Braun, Terry A.;
Fingert, John H.;
Alward, Wallace L. M.;
Kwon, Young H.;
Folk, James C.;
Russell, Stephen R.;
Wassink, Thomas H.;
Sheffield, Val C.;
Stone, Edwin M.;
From the Department of Psychiatry, University of Illinois, Chicago, Illinois;
and;
the Interdisciplinary Genetics Program,;
the Interdisciplinary Genetics Program,;
the Departments of Pediatrics,;
the Interdisciplinary Genetics Program,;
the Center for Bioinformatics and Computational Biology, and;
Ophthalmology and Visual Sciences, and the 5Center for Bioinformatics and Computational Biology, and;
Ophthalmology and Visual Sciences, and the 5Center for Bioinformatics and Computational Biology, and;
the Interdisciplinary Genetics Program, 6Ophthalmology and Visual Sciences, and;
Ophthalmology and Visual Sciences, and;
Ophthalmology and Visual Sciences, and;
Ophthalmology and Visual Sciences, and;
Ophthalmology and Visual Sciences, and;
the Interdisciplinary Genetics Program, 7Psychiatry,;
the Interdisciplinary Genetics Program, the Departments of 4Pediatrics, the 8Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa.;
the Interdisciplinary Genetics Program;
(Investigative ophthalmology & visual science,
v.52,
2011,
pp.7122)
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432
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Computational Quantification of Complex Fundus Phenotypes in Age-Related Macular Degeneration and Stargardt Disease
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Quellec, Gwenole;
Russell, Stephen R.;
Scheetz, Todd E.;
Stone, Edwin M.;
Abrà
moff, Michael D.;
From the Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City, Iowa;
the Departments of 2Biomedical Engineering and;
From the Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City, Iowa;
the 3Institute for Vision Research, University of Iowa, Iowa City, Iowa;
;
From the Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City, Iowa;
the Departments of 2Biomedical Engineering and the 3Institute for Vision Research, University of Iowa, Iowa City, Iowa;
;
From the Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City, Iowa;
the 3Institute for Vision Research, University of Iowa, Iowa City, Iowa;
the 4Howard Hughes Medical Institute, University of Iowa, Iowa Ci;
From the Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City, Iowa;
the Departments of 2Biomedic;
(Investigative ophthalmology & visual science,
v.52,
2011,
pp.2976)
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433
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Gβγ directly modulates vesicle fusion by competing with synaptotagmin for binding to neuronal SNARE proteins embedded in membranes
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Zurawski, Zack;
Page, Brian;
Chicka, Michael C.;
Brindley, Rebecca L.;
Wells, Christopher A.;
Preininger, Anita M.;
Hyde, Karren;
Gilbert, James A.;
Cruz-Rodriguez, Osvaldo;
Currie, Kevin P. M.;
Chapman, Edwin R.;
Alford, Simon;
Hamm, Heidi E.;
From the Department of Pharmacology, Vanderbilt University, Nashville, Tennessee 37232-6600,;
Department of Anatomy and Cell Biology, University of Illinois at Chicago, Chicago, Illinois 60612-7308,;
Howard Hughes Medical Institute and Department of Neuroscience, University of Wisconsin, Madison, Wisconsin, 53705,;
Department of Anesthesiology, Vanderbilt University Medical Center, Nashville, Tennessee 37232-6600, and;
From the Department of Pharmacology, Vanderbilt University, Nashville, Tennessee 37232-6600,;
From the Department of Pharmacology, Vanderbilt University, Nashville, Tennessee 37232-6600,;
From the Department of Pharmacology, Vanderbilt University, Nashville, Tennessee 37232-6600,;
From the Department of Pharmacology, Vanderbilt University, Nashville, Tennessee 37232-6600,;
Departments of Pharmacology and Biological Chemistry, Life Sciences Institute, University of Michigan, Ann Arbor, Michigan 48109;
From the Department of Pharmacology, Vanderbilt University, Na;
(The Journal of biological chemistry,
v.292,
2017,
pp.12165-12177)
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434
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The Krebs Cycle Enzyme Isocitrate Dehydrogenase 3A Couples Mitochondrial Metabolism to Synaptic Transmission
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Ugur, Berrak;
Bao, Huan;
Stawarski, Michal;
Duraine, Lita R.;
Zuo, Zhongyuan;
Lin, Yong Qi;
Neely, G. Gregory;
Macleod, Gregory T.;
Chapman, Edwin R.;
Bellen, Hugo J.;
Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA;
Department of Neuroscience, University of Wisconsin-Madison, Madison, WI 53705, USA;
Department of Biological Sciences and Wilkes Honors College, Florida Atlantic University, Jupiter, FL 33458, USA;
Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA;
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA;
The Dr. John and Anne Chong Lab for Functional Genomics, Charles Perkins Centre and School of Life and Environmental Sciences, University of Sydney, Sydney, NSW 2006, Australia;
The Dr. John and Anne Chong Lab for Functional Genomics, Charles Perkins Centre and School of Life and Environmental Sciences, University of Sydney, Sydney, NSW 2006, Australia;
Department of Biological Sciences and Wilkes Honors College, Florida Atlantic University, Jupiter, FL 33458, USA;
Department of Neuroscience, University of Wisconsin-Madi;
(Cell reports,
v.21,
2017,
pp.3794-3806)
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435
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Differential Macular and Peripheral Expression of Bestrophin in Human Eyes and Its Implication for Best Disease
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Mullins, Robert F.;
Kuehn, Markus H.;
Faidley, Elizabeth A.;
Syed, Nasreen A.;
Stone, Edwin M.;
From the Carver Family Center for Macular Degeneration, Department of Ophthalmology and Visual Science, The University of Iowa Carver College of Medicine, Iowa City, Iowa;
and the;
From the Carver Family Center for Macular Degeneration, Department of Ophthalmology and Visual Science, The University of Iowa Carver College of Medicine, Iowa City, Iowa;
and the;
From the Carver Family Center for Macular Degeneration, Department of Ophthalmology and Visual Science, The University of Iowa Carver College of Medicine, Iowa City, Iowa;
and the;
From the Carver Family Center for Macular Degeneration, Department of Ophthalmology and Visual Science, The University of Iowa Carver College of Medicine, Iowa City, Iowa;
and the;
From the Carver Family Center for Macular Degeneration, Department of Ophthalmology and Visual Science, The University of Iowa Carver College of Medicine, Iowa City, Iowa;
and the2Howard Hughes Medical Institute, Chevy Chase, Maryland.;
(Investigative ophthalmology & visual science,
v.48,
2007,
pp.3372)
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436
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Autozygosity mapping of Bardet–Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10
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White, Dominic R A;
Ganesh, Anuradha;
Nishimura, Darryl;
Rattenberry, Eleanor;
Ahmed, Shakeel;
Smith, Ursula M;
Pasha, Shanaz;
Raeburn, Sandy;
Trembath, Richard C;
Rajab, Anna;
Macdonald, Fiona;
Banin, Eyal;
Stone, Edwin M;
Johnson, Colin A;
Sheffield, Val C;
Maher, Eamonn R;
1Department of Medical and Molecular Genetics, School of Medicine, Institute of Biomedical Research, University of Birmingham, Birmingham, UK;
2Pediatric Ophthalmology Unit, Department of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman;
3Department of Pediatrics, Division of Medical Genetics, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA, USA;
4West Midlands Regional Genetics Service, Birmingham Women's Hospital, Muscat, Oman;
5Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman;
1Department of Medical and Molecular Genetics, School of Medicine, Institute of Biomedical Research, University of Birmingham, Birmingham, UK;
1Department of Medical and Molecular Genetics, School of Medicine, Institute of Biomedical Research, University of Birmingham, Birmingham, UK;
6Department of Genetics, Sultan Qaboos University, Muscat, Oman;
7King's College (Guy's Campus), Division of Genetics and Molecular Medicine, London, UK;
8G;
(European journal of human genetics : EJHG,
v.15,
2007,
pp.173-178)
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437
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Mutations in <i>ABCA4</i> result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence
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Cideciyan, Artur V.;
Aleman, Tomas S.;
Swider, Malgorzata;
Schwartz, Sharon B.;
Steinberg, Janet D.;
Brucker, Alexander J.;
Maguire, Albert M.;
Bennett, Jean;
Stone, Edwin M.;
Jacobson, Samuel G.;
Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA and;
Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA and;
Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA and;
Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA and;
Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA and;
Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA and;
Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA and;
Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA and;
Howard Hughes Medical Institute and Department of Ophthalmology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA;
Scheie Eye Insti;
(Human molecular genetics,
v.13,
2004,
pp.525-534)
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438
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Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His
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Grassi, Michael A.;
Fingert, John H.;
Scheetz, Todd E.;
Roos, Benjamin R.;
Ritch, Robert;
West, Sheila K.;
Kawase, Kazuhide;
Shire, Abdirashid M.;
Mullins, Robert F.;
Stone, Edwin M.;
Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa;
Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa;
Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa;
Howard Hughes Medical Institute, Chevy Chase, Maryland;
New York Eye and Ear Infirmary, New York, New York;
Wilmer Eye Institute, John Hopkins University School of Medicine, Baltimore, Maryland;
Department of Ophthalmology, Gifu University Graduate School of Medicine, Gifu-shi, Japan;
Department of Gastroenterology and Hepatology, Mayo Clinic College of Medicine, Rochester, Minnesota;
Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa;
Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, Iowa;
(Human mutation,
v.27,
2006,
pp.921-925)
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439
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Automated Discovery and Quantification of Image-Based Complex Phenotypes: A Twin Study of Drusen Phenotypes in Age-Related Macular Degeneration
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Quellec, Gwenole;
Russell, Stephen R.;
Seddon, Johanna M.;
Reynolds, Robyn;
Scheetz, Todd;
Mahajan, Vinit B.;
Stone, Edwin M.;
Abrà
moff, Michael D.;
From the Institute for Vision Research, University of Iowa Hospitals and Clinics, Iowa City, Iowa;
the Departments of 2Biomedical Engineering and;
From the Institute for Vision Research, University of Iowa Hospitals and Clinics, Iowa City, Iowa;
the 4Carver Family Center for Macular Degeneration, and;
the Ophthalmic Epidemiology and Genetics Service, Tufts Medical Center, Boston, Massachusetts;
6Tufts University School of Medicine, Boston, Massachusetts;
and;
the Ophthalmic Epidemiology and Genetics Service, Tufts Medical Center, Boston, Massachusetts;
;
the Departments of Biomedical Engineering and 7Electrical and Computer Engineering,;
From the Institute for Vision Research, University of Iowa Hospitals and Clinics, Iowa City, Iowa;
;
From the Institute for Vision Research, University of Iowa Hospitals and Clinics, Iowa City, Iowa;
the 4Carver Family Center for Macular Degeneration, and the 8Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa;
;
From the Institut;
(Investigative ophthalmology & visual science,
v.52,
2011,
pp.9195)
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440
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Expression of Cux-1 and Cux-2 in the subventricular zone and upper layers II–IV of the cerebral cortex
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Nieto, Marta;
Monuki, Edwin S.;
Tang, Hua;
Imitola, Jaime;
Haubst, Nicole;
Khoury, Samia J.;
Cunningham, Jim;
Gotz, Magdalena;
Walsh, Christopher A.;
Department of Neurology, Harvard Medical School and Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Boston, Massachusetts 02115;
Department of Pathology, University of California, Irvine College of Medicine, D440 Medical Science, Irvine, California 92697-4800;
Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115;
Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115;
National Research Center for Environment and Health, Institute of Stem Cell Research, Ingolstadter Landstrasse 1, Neuherberg, D-85764 Munich, Germany;
Department of Neurology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115;
Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115;
National Research Center for Environment and Health, Institute of Stem Cell Research, Ingolstadter Landstrasse 1, Ne;
(Journal of comparative neurology,
v.479,
2004,
pp.168-180)