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Edwin Stone

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Publications

TOP 3
Mullins Robert F; Faidley Elizabeth A; Daggett Heather T; Jomary Catherine; Lotery Andrew J; Stone Edwin M
Localization of complement 1 inhibitor (C1INH/SERPING1) in human eyes with age-related macular degeneration.
Satz Jakob S; Philp Alisdair R; Nguyen Huy; Kusano Hajime; Lee Jane; Turk Rolf; Riker Megan J; Hernández Jasmine; Weiss Robert M; Anderson Michael G; Mullins Robert F; Moore Steven A; Stone Edwin M; Campbell Kevin P
Visual impairment in the absence of dystroglycan.
Drack Arlene V; Johnston Rebecca; Stone Edwin M
Which Leber congenital amaurosis patients are eligible for gene therapy trials?

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All Publications

2009: Mullins Robert F; Faidley Elizabeth A; Daggett Heather T; Jomary Catherine; Lotery Andrew J; Stone Edwin M
Localization of complement 1 inhibitor (C1INH/SERPING1) in human eyes with age-related macular degeneration.
Experimental eye research 2009;89(5):767-73.
2009: Satz Jakob S; Philp Alisdair R; Nguyen Huy; Kusano Hajime; Lee Jane; Turk Rolf; Riker Megan J; Hernández Jasmine; Weiss Robert M; Anderson Michael G; Mullins Robert F; Moore Steven A; Stone Edwin M; Campbell Kevin P
Visual impairment in the absence of dystroglycan.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2009;29(42):13136-46.
2009: Drack Arlene V; Johnston Rebecca; Stone Edwin M
Which Leber congenital amaurosis patients are eligible for gene therapy trials?
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2009;13(5):463-5.
2009: Philp A R; Jin M; Li S; Schindler E I; Iannaccone A; Lam B L; Weleber R G; Fishman G A; Jacobson S G; Mullins R F; Travis Gabriel H; Stone Edwin M
Predicting the pathogenicity of RPE65 mutations.
Human mutation 2009;30(8):1183-8.
2009: Pasadhika Sirichai; Fishman Gerald A; Allikmets Rando; Stone Edwin M
Peripapillary retinal nerve fiber layer thinning in patients with autosomal recessive cone-rod dystrophy.
American journal of ophthalmology 2009;148(2):260-265.e1.
2009: Williams David S; Aleman Tomas S; Lillo Concepción; Lopes Vanda S; Hughes Louise C; Stone Edwin M; Jacobson Samuel G
Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C.
Investigative ophthalmology & visual science 2009;50(8):3881-9.
2009: McMahon Timothy T; Kim Linda S; Fishman Gerald A; Stone Edwin M; Zhao Xinping C; Yee Richard W; Malicki Jarema
CRB1 gene mutations are associated with keratoconus in patients with leber congenital amaurosis.
Investigative ophthalmology & visual science 2009;50(7):3185-7.
2009: Stone Edwin M
Progress toward effective treatments for human photoreceptor degenerations.
Current opinion in genetics & development 2009;19(3):283-9.
2009: Jacobson Samuel G; Aleman Tomas S; Cideciyan Artur V; Roman Alejandro J; Sumaroka Alexander; Windsor Elizabeth A M; Schwartz Sharon B; Heon Elise; Stone Edwin M
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.
Investigative ophthalmology & visual science 2009;50(5):2368-75.
2009: Cideciyan Artur V; Swider Malgorzata; Aleman Tomas S; Tsybovsky Yaroslav; Schwartz Sharon B; Windsor Elizabeth A M; Roman Alejandro J; Sumaroka Alexander; Steinberg Janet D; Jacobson Samuel G; Stone Edwin M; Palczewski Krzysztof
ABCA4 disease progression and a proposed strategy for gene therapy.
Human molecular genetics 2009;18(5):931-41.
2009: Aleman T S; Lam B L; Cideciyan A V; Sumaroka A; Windsor E A M; Roman A J; Schwartz S B; Stone E M; Jacobson S G
Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets.
Eye (London, England) 2009;23(1):230-3.
2008: Jacobson Samuel G; Cideciyan Artur V; Aleman Tomas S; Sumaroka Alexander; Windsor Elizabeth A M; Schwartz Sharon B; Heon Elise; Stone Edwin M
Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.
Investigative ophthalmology & visual science 2008;49(10):4573-7.
2008: Cideciyan Artur V; Aleman Tomas S; Boye Sanford L; Schwartz Sharon B; Kaushal Shalesh; Roman Alejandro J; Pang Ji-Jing; Sumaroka Alexander; Windsor Elizabeth A M; Wilson James M; Flotte Terence R; Fishman Gerald A; Heon Elise; Stone Edwin M; Byrne Barry J; Jacobson Samuel G; Hauswirth William W
Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics.
Proceedings of the National Academy of Sciences of the United States of America 2008;105(39):15112-7.
2008: Fingert John H; Oh Kean; Chung Mina; Scheetz Todd E; Andorf Jeaneen L; Johnson Rebecca M; Sheffield Val C; Stone Edwin M
Association of a novel mutation in the retinol dehydrogenase 12 (RDH12) gene with autosomal dominant retinitis pigmentosa.
Archives of ophthalmology 2008;126(9):1301-7.
2008: Thompson Stewart; Mullins Robert F; Philp Alisdair R; Stone Edwin M; Mrosovsky N
Divergent phenotypes of vision and accessory visual function in mice with visual cycle dysfunction (Rpe65 rd12) or retinal degeneration (rd/rd).
Investigative ophthalmology & visual science 2008;49(6):2737-42.
2008: Herrera Waldo; Aleman Tomas S; Cideciyan Artur V; Roman Alejandro J; Banin Eyal; Ben-Yosef Tamar; Gardner Leigh M; Sumaroka Alexander; Windsor Elizabeth A M; Schwartz Sharon B; Stone Edwin M; Liu Xue-Zhong; Kimberling William J; Jacobson Samuel G
Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
Investigative ophthalmology & visual science 2008;49(6):2651-60.
2008: Thompson Stewart; Foster Russell G; Stone Edwin M; Sheffield Val C; Mrosovsky N
Classical and melanopsin photoreception in irradiance detection: negative masking of locomotor activity by light.
The European journal of neuroscience 2008;27(8):1973-9.
2008: Aleman Tomas S; Cideciyan Artur V; Sumaroka Alexander; Windsor Elizabeth A M; Herrera Waldo; White D Alan; Kaushal Shalesh; Naidu Anjani; Roman Alejandro J; Schwartz Sharon B; Stone Edwin M; Jacobson Samuel G
Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations.
Investigative ophthalmology & visual science 2008;49(4):1580-90.
2008: Shah Shaival S; Al-Rajhi Ali; Brandt James D; Mannis Mark J; Roos Ben; Sheffield Val C; Syed Nasreen A; Stone Edwin M; Fingert John H
Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family.
Ophthalmic genetics 2008;29(1):41-5.
2008: Shankar Suma P; Fingert John H; Carelli Valerio; Valentino Maria L; King Terri M; Daiger Stephen P; Salomao Solange R; Berezovsky Adriana; Belfort Rubens; Braun Terri A; Sheffield Val C; Sadun Alfredo A; Stone Edwin M
Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy.
Ophthalmic genetics 2008;29(1):17-24.
2008: Wang Wan-Heng; McNatt Loretta G; Pang Iok-Hou; Millar J Cameron; Hellberg Peggy E; Hellberg Mark H; Steely H Thomas; Rubin Jeffrey S; Fingert John H; Sheffield Val C; Stone Edwin M; Clark Abbot F
Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure.
The Journal of clinical investigation 2008;118(3):1056-64.
2008: Thompson Stewart; Philp Alisdair R; Stone Edwin M
Visual function testing: a quantifiable visually guided behavior in mice.
Vision research 2008;48(3):346-52.
2007: O'Leary Brian M; Davis Steven G; Smith Michael F; Brown Bartley; Kemp Mathew B; Almabrazi Hakeem; Grundstad Jason A; Burns Thomas; Leontiev Vladimir; Andorf Jeaneen; Clark Abbot F; Sheffield Val C; Casavant Thomas L; Scheetz Todd E; Stone Edwin M; Braun Terry A
Transcript annotation prioritization and screening system (TrAPSS) for mutation screening.
Journal of bioinformatics and computational biology 2007;5(6):1155-72.
2007: Fingert John H; Alward Wallace L M; Kwon Young H; Wang Kai; Streb Luan M; Sheffield Val C; Stone Edwin M
LOXL1 mutations are associated with exfoliation syndrome in patients from the midwestern United States.
American journal of ophthalmology 2007;144(6):974-975.
2007: Davis Roger E; Swiderski Ruth E; Rahmouni Kamal; Nishimura Darryl Y; Mullins Robert F; Agassandian Khristofor; Philp Alisdair R; Searby Charles C; Andrews Michael P; Thompson Stewart; Berry Christopher J; Thedens Daniel R; Yang Baoli; Weiss Robert M; Cassell Martin D; Stone Edwin M; Sheffield Val C
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(49):19422-7.
2007: Stone Edwin M
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
American journal of ophthalmology 2007;144(6):791-811.
2007: Cideciyan Artur V; Aleman Tomas S; Jacobson Samuel G; Khanna Hemant; Sumaroka Alexander; Aguirre Geoffrey K; Schwartz Sharon B; Windsor Elizabeth A M; He Shirley; Chang Bo; Stone Edwin M; Swaroop Anand
Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.
Human mutation 2007;28(11):1074-83.
2007: Fu Li; Garland Donita; Yang Zhenglin; Shukla Dhananjay; Rajendran Anand; Pearson Erik; Stone Edwin M; Zhang Kang; Pierce Eric A
The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice.
Human molecular genetics 2007;16(20):2411-22.
2007: Kim Linda S; Fishman Gerald A; Seiple William H; Szlyk Janet P; Stone Edwin M
Retinal dysfunction in carriers of bardet-biedl syndrome.
Ophthalmic genetics 2007;28(3):163-8.
2007: Jacobson Samuel G; Aleman Tomas S; Cideciyan Artur V; Heon Elise; Golczak Marcin; Beltran William A; Sumaroka Alexander; Schwartz Sharon B; Roman Alejandro J; Windsor Elizabeth A M; Wilson James M; Aguirre Gustavo D; Stone Edwin M; Palczewski Krzysztof
Human cone photoreceptor dependence on RPE65 isomerase.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(38):15123-8.
2007: Mullins Robert F; Kuehn Markus H; Faidley Elizabeth A; Syed Nasreen A; Stone Edwin M
Differential macular and peripheral expression of bestrophin in human eyes and its implication for best disease.
Investigative ophthalmology & visual science 2007;48(7):3372-80.
2007: Swiderski Ruth E; Nishimura Darryl Y; Mullins Robert F; Olvera Marissa A; Ross Jean L; Huang Jian; Stone Edwin M; Sheffield Val C
Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage.
Investigative ophthalmology & visual science 2007;48(7):3329-40.
2007: Thomas George; Grassi Michael A; Lee John R; Edwards Albert O; Gorin Michael B; Klein Ronald; Casavant Thomas L; Scheetz Todd E; Stone Edwin M; Williams Andrew B
IDOCS: intelligent distributed ontology consensus system--the use of machine learning in retinal drusen phenotyping.
Investigative ophthalmology & visual science 2007;48(5):2278-84.
2007: Guziewicz Karina E; Zangerl Barbara; Lindauer Sarah J; Mullins Robert F; Sandmeyer Lynne S; Grahn Bruce H; Stone Edwin M; Acland Gregory M; Aguirre Gustavo D
Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease.
Investigative ophthalmology & visual science 2007;48(5):1959-67.
2007: Cideciyan Artur V; Swider Malgorzata; Aleman Tomas S; Roman Marisa I; Sumaroka Alexander; Schwartz Sharon B; Stone Edwin M; Jacobson Samuel G
Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations.
Journal of the Optical Society of America. A, Optics, image science, and vision 2007;24(5):1457-67.
2007: Fingert John H; Honkanen Robert A; Shankar Suma P; Affatigato Louisa M; Ehlinger Mary A; Moore Michael D; Jampol Lee M; Sheffield Val C; Stone Edwin M; Alward Wallace L M
Familial cavitary optic disk anomalies: identification of a novel genetic locus.
American journal of ophthalmology 2007;143(5):795-800.
2007: Honkanen Robert A; Jampol Lee M; Fingert John H; Moore Michael D; Taylor Christine M; Stone Edwin M; Alward Wallace L M
Familial cavitary optic disk anomalies: clinical features of a large family with examples of progressive optic nerve head cupping.
American journal of ophthalmology 2007;143(5):788-794.
2007: Jacobson Samuel G; Cideciyan Artur V; Aleman Tomas S; Sumaroka Alexander; Schwartz Sharon B; Roman Alejandro J; Stone Edwin M
Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.
Ophthalmology 2007;114(5):895-8.
2007: Fingert John H; Grassi Michael A; Janutka Josesph C; East Jade S; Howard James G; Sheffield Val C; Jacobson Dan M; Hayreh Sohan S; Stone Edwin M
Mitochondrial variant G4132A is associated with familial non-arteritic anterior ischemic optic neuropathy in one large pedigree.
Ophthalmic genetics 2007;28(1):1-7.
2007: Fingert John H; Alward Wallace L M; Kwon Young H; Shankar Suma P; Andorf Jeaneen L; Mackey David A; Sheffield Val C; Stone Edwin M
No association between variations in the WDR36 gene and primary open-angle glaucoma.
Archives of ophthalmology 2007;125(3):434-6.
2007: Aleman Tomas S; Cideciyan Artur V; Windsor Elizabeth A M; Schwartz Sharon B; Swider Malgorzata; Chico John D; Sumaroka Alexander; Pantelyat Alexander Y; Duncan Keith G; Gardner Leigh M; Emmons Jessica M; Steinberg Janet D; Stone Edwin M; Jacobson Samuel G
Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations.
Investigative ophthalmology & visual science 2007;48(3):1319-29.
2007: Shepard Allan R; Jacobson Nasreen; Millar J Cameron; Pang Iok-Hou; Steely H Thomas; Searby Charles C; Sheffield Val C; Stone Edwin M; Clark Abbot F
Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure.
Human molecular genetics 2007;16(6):609-17.
2007: Stone Edwin M
Genetic testing for inherited eye disease.
Archives of ophthalmology 2007;125(2):205-12.
2007: Mullins Robert F; Olvera Marissa A; Clark Abbot F; Stone Edwin M
Fibulin-5 distribution in human eyes: relevance to age-related macular degeneration.
Experimental eye research 2007;84(2):378-80.
2007: Grassi Michael A; Folk James C; Scheetz Todd E; Taylor Christine M; Sheffield Val C; Stone Edwin M
Complement factor H polymorphism p.Tyr402His and cuticular Drusen.
Archives of ophthalmology 2007;125(1):93-7.
2007: Jacobson Samuel G; Cideciyan Artur V; Aleman Tomas S; Sumaroka Alexander; Schwartz Sharon B; Windsor Elizabeth A M; Roman Alejandro J; Heon Elise; Stone Edwin M; Thompson Debra A
RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.
Investigative ophthalmology & visual science 2007;48(1):332-8.
2007: Stone Edwin M
Macular degeneration.
Annual review of medicine 2007;58():477-90.
2006: Azari Amir A; Aleman Tomas S; Cideciyan Artur V; Schwartz Sharon B; Windsor Elizabeth A M; Sumaroka Alexander; Cheung Andy Y; Steinberg Janet D; Roman Alejandro J; Stone Edwin M; Sheffield Val C; Jacobson Samuel G
Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.
Investigative ophthalmology & visual science 2006;47(11):5004-10.
2006: Zangerl Barbara; Goldstein Orly; Philp Alisdair R; Lindauer Sarah J P; Pearce-Kelling Susan E; Mullins Robert F; Graphodatsky Alexander S; Ripoll Daniel; Felix Jeanette S; Stone Edwin M; Acland Gregory M; Aguirre Gustavo D
Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.
Genomics 2006;88(5):551-63.
2006: Scheetz Todd E; Kim Kwang-Youn A; Swiderski Ruth E; Philp Alisdair R; Braun Terry A; Knudtson Kevin L; Dorrance Anne M; DiBona Gerald F; Huang Jian; Casavant Thomas L; Sheffield Val C; Stone Edwin M
Regulation of gene expression in the mammalian eye and its relevance to eye disease.
Proceedings of the National Academy of Sciences of the United States of America 2006;103(39):14429-34.
2006: Jacobson Samuel G; Cideciyan Artur V; Sumaroka Alexander; Aleman Tomas S; Schwartz Sharon B; Windsor Elizabeth A M; Roman Alejandro J; Stone Edwin M; MacDonald Ian M
Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.
Investigative ophthalmology & visual science 2006;47(9):4113-20.
2006: 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
Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His.
Human mutation 2006;27(9):921-5.
2006: Kuehn Markus H; Kim Chan Y; Ostojic Jelena; Bellin Micheal; Alward Wallace L M; Stone Edwin M; Sakaguchi Donald S; Grozdanic Sinisa D; Kwon Young H
Retinal synthesis and deposition of complement components induced by ocular hypertension.
Experimental eye research 2006;83(3):620-8.
2006: Apushkin Marsha A; Fishman Gerald A; Taylor Christine M; Stone Edwin M
Novel de novo mutation in a patient with Best macular dystrophy.
Archives of ophthalmology 2006;124(6):887-9.
2006: Fingert John H; Kwon Young H; Moore Paula A; Johnston Rebecca M; Kim Kwang-Youn; Sheffield Val C; Alward Wallace L M; Stone Edwin M
The C677T variant in the methylenetetrahydrofolate reductase gene is not associated with disease in cohorts of pseudoexfoliation glaucoma and primary open-angle glaucoma patients from Iowa.
Ophthalmic genetics 2006;27(2):39-41.
2006: Bischof Jared M; Chiang Annie P; Scheetz Todd E; Stone Edwin M; Casavant Thomas L; Sheffield Val C; Braun Terry A
Genome-wide identification of pseudogenes capable of disease-causing gene conversion.
Human mutation 2006;27(6):545-52.
2006: Fingert John H; Eliason David A; Phillips Nicole C; Lotery Andrew J; Sheffield Val C; Stone Edwin M
Case of Stargardt disease caused by uniparental isodisomy.
Archives of ophthalmology 2006;124(5):744-5.
2006: Chiang Annie P; Beck John S; Yen Hsan-Jan; Tayeh Marwan K; Scheetz Todd E; Swiderski Ruth E; Nishimura Darryl Y; Braun Terry A; Kim Kwang-Youn A; Huang Jian; Elbedour Khalil; Carmi Rivka; Slusarski Diane C; Casavant Thomas L; Stone Edwin M; Sheffield Val C
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).
Proceedings of the National Academy of Sciences of the United States of America 2006;103(16):6287-92.
2006: Yen Hsan-Jan; Tayeh Marwan K; Mullins Robert F; Stone Edwin M; Sheffield Val C; Slusarski Diane C
Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function.
Human molecular genetics 2006;15(5):667-77.
2006: Braun Terry A; Shankar Suma P; Davis Steve; O'Leary Brian; Scheetz Todd E; Clark Abbot F; Sheffield Val C; Casavant Thomas L; Stone Edwin M
Prioritizing regions of candidate genes for efficient mutation screening.
Human mutation 2006;27(2):195-200.
2006: Allen R C; Russell S R; Streb L M; Alsheikheh A; Stone E M
Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein.
Eye (London, England) 2006;20(2):234-41.
2006: Daiger Stephen P; Shankar Suma P; Schindler Alice B; Sullivan Lori S; Bowne Sara J; King Terri M; Daw E Warick; Stone Edwin M; Heckenlively John R
Genetic factors modifying clinical expression of autosomal dominant RP.
Advances in experimental medicine and biology 2006;572():3-8.
2005: Nishimura Darryl Y; Swiderski Ruth E; Searby Charles C; Berg Erik M; Ferguson Amanda L; Hennekam Raoul; Merin Saul; Weleber Richard G; Biesecker Leslie G; Stone Edwin M; Sheffield Val C
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.
American journal of human genetics 2005;77(6):1021-33.
2005: Stone Edwin M
Challenges in genetic testing for clinical trials of inherited and orphan retinal diseases.
Retina (Philadelphia, Pa.) 2005;25(8 Suppl):S72-S73.
2005: Cideciyan Artur V; Swider Malgorzata; Aleman Tomas S; Sumaroka Alexander; Schwartz Sharon B; Roman Marisa I; Milam Ann H; Bennett Jean; Stone Edwin M; Jacobson Samuel G
ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina.
Investigative ophthalmology & visual science 2005;46(12):4739-46.
2005: Mullins Robert F; Oh Kean T; Heffron Edward; Hageman Gregory S; Stone Edwin M
Late development of vitelliform lesions and flecks in a patient with best disease: clinicopathologic correlation.
Archives of ophthalmology 2005;123(11):1588-94.
2005: Galvin Jennifer A; Fishman Gerald A; Stone Edwin M; Koenekoop Robert K
Evaluation of genotype-phenotype associations in leber congenital amaurosis.
Retina (Philadelphia, Pa.) 2005;25(7):919-29.
2005: Pinto Lawrence H; Vitaterna Martha H; Shimomura Kazuhiro; Siepka Sandra M; McDearmon Erin L; Fenner Deborah; Lumayag Stephen L; Omura Chiaki; Andrews Anne W; Baker Matthew; Invergo Brandon M; Olvera Marissa A; Heffron Edward; Mullins Robert F; Sheffield Val C; Stone Edwin M; Takahashi Joseph S
Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse.
Visual neuroscience 2005;22(5):619-29.
2005: Fath Melissa A; Mullins Robert F; Searby Charles; Nishimura Darryl Y; Wei Jun; Rahmouni Kamal; Davis Roger E; Tayeh Marwan K; Andrews Michael; Yang Baoli; Sigmund Curt D; Stone Edwin M; Sheffield Val C
Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.
Human molecular genetics 2005;14(9):1109-18.
2005: Jacobson Samuel G; Aleman Tomas S; Cideciyan Artur V; Sumaroka Alexander; Schwartz Sharon B; Windsor Elizabeth A M; Traboulsi Elias I; Heon Elise; Pittler Steven J; Milam Ann H; Maguire Albert M; Palczewski Krzysztof; Stone Edwin M; Bennett Jean
Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(17):6177-82.
2005: Sokal Izabela; Dupps William J; Grassi Michael A; Brown Jeremiah; Affatigato Louisa M; Roychowdhury Nirmalya; Yang Lili; Filipek Slawomir; Palczewski Krzysztof; Stone Edwin M; Baehr Wolfgang
A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD).
Investigative ophthalmology & visual science 2005;46(4):1124-32.
2005: Galvin Jennifer A; Fishman Gerald A; Stone Edwin M; Koenekoop Robert K
Clinical phenotypes in carriers of Leber congenital amaurosis mutations.
Ophthalmology 2005;112(2):349-56.
2005: Schwartz Sharon B; Aleman Tomas S; Cideciyan Artur V; Windsor Elizabeth A M; Sumaroka Alexander; Roman Alejandro J; Rane Tej; Smilko Elaine E; Bennett Jean; Stone Edwin M; Kimberling William J; Liu Xue-Zhong; Jacobson Samuel G
Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.
Investigative ophthalmology & visual science 2005;46(2):734-43.
2005: Héon Elise; Westall Carol; Carmi Rivka; Elbedour Khalil; Panton Carole; Mackeen Leslie; Stone Edwin M; Sheffield Val C
Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.
American journal of medical genetics. Part A 2005;132A(3):283-7.
2004: Oh Kean T; Weleber Richard G; Stone Edwin M; Oh Dawn M; Rosenow Justin; Billingslea Andrea M
Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus.
Retina (Philadelphia, Pa.) 2004;24(6):920-8.
2004: Oh K T; Oh D M; Weleber R G; Stone E M; Parikh A; White J; Deboer-Shields K A; Streb L; Vallar C
Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa.
The British journal of ophthalmology 2004;88(12):1533-7.
2004: Pinto Lawrence H; Vitaterna Martha Hotz; Siepka Sanda M; Shimomura Kazuhiro; Lumayag Stephen; Baker Matthew; Fenner Deborah; Mullins Robert F; Sheffield Val C; Stone Edwin M; Heffron Edward; Takahashi Joseph S
Results from screening over 9000 mutation-bearing mice for defects in the electroretinogram and appearance of the fundus.
Vision research 2004;44(28):3335-45.
2004: Nishimura Darryl Y; Fath Melissa; Mullins Robert F; Searby Charles; Andrews Michael; Davis Roger; Andorf Jeaneen L; Mykytyn Kirk; Swiderski Ruth E; Yang Baoli; Carmi Rivka; Stone Edwin M; Sheffield Val C
Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(47):16588-93.
2004: Wright Alan F; Reddick Adam C; Schwartz Sharon B; Ferguson Julie S; Aleman Tomas S; Kellner Ulrich; Jurklies Bernhard; Schuster Andreas; Zrenner Eberhart; Wissinger Bernd; Lennon Alan; Shu Xinhua; Cideciyan Artur V; Stone Edwin M; Jacobson Samuel G; Swaroop Anand
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.
Human mutation 2004;24(5):439.
2004: Grover Sandeep; Fishman Gerald A; Stone Edwin M
A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa.
Ophthalmology 2004;111(10):1910-6.
2004: Chiang Annie P; Nishimura Darryl; Searby Charles; Elbedour Khalil; Carmi Rivka; Ferguson Amanda L; Secrist Jenifer; Braun Terry; Casavant Thomas; Stone Edwin M; Sheffield Val C
Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).
American journal of human genetics 2004;75(3):475-84.
2004: Jacobson Samuel G; Sumaroka Alexander; Aleman Tomas S; Cideciyan Artur V; Schwartz Sharon B; Roman Alejandro J; McInnes Roderick R; Sheffield Val C; Stone Edwin M; Swaroop Anand; Wright Alan F
Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration.
Human molecular genetics 2004;13(17):1893-902.
2004: Healey Danielle L; Craig Jamie E; Wilkinson Colleen H; Stone Edwin M; Mackey David A
Attitudes to predictive DNA testing for myocilin glaucoma: experience with a large Australian family.
Journal of glaucoma 2004;13(4):304-11.
2004: Stone Edwin M; Braun Terry A; Russell Stephen R; Kuehn Markus H; Lotery Andrew J; Moore Paula A; Eastman Christopher G; Casavant Thomas L; Sheffield Val C
Missense variations in the fibulin 5 gene and age-related macular degeneration.
The New England journal of medicine 2004;351(4):346-53.
2004: Kang Derwent Jennifer J; Derlacki Deborah J; Hetling John R; Fishman Gerald A; Birch David G; Grover Sandeep; Stone Edwin M; Pepperberg David R
Dark adaptation of rod photoreceptors in normal subjects, and in patients with Stargardt disease and an ABCA4 mutation.
Investigative ophthalmology & visual science 2004;45(7):2447-56.
2004: Mykytyn Kirk; Mullins Robert F; Andrews Michael; Chiang Annie P; Swiderski Ruth E; Yang Baoli; Braun Terry; Casavant Thomas; Stone Edwin M; Sheffield Val C
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly.
Proceedings of the National Academy of Sciences of the United States of America 2004;101(23):8664-9.
2004: Oh Kean T; Weleber Richard G; Oh Dawn M; Billingslea Andrea M; Rosenow Justin; Stone Edwin M
Clinical phenotype as a prognostic factor in Stargardt disease.
Retina (Philadelphia, Pa.) 2004;24(2):254-62.
2004: 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
Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence.
Human molecular genetics 2004;13(5):525-34.
2003: Lotery Andrew J; Yang Grace S; Mullins Robert F; Russell Stephen R; Schmidt Michael; Stone Edwin M; Lindbloom Jonathan D; Chiorini John A; Kotin Robert M; Davidson Beverly L
Adeno-associated virus type 5: transduction efficiency and cell-type specificity in the primate retina.
Human gene therapy 2003;14(17):1663-71.
2003: Alward Wallace L M; Kwon Young H; Kawase Kazuhide; Craig Jamie E; Hayreh Sohan S; Johnson A Tim; Khanna Cheryl L; Yamamoto Tetsuya; Mackey David A; Roos Benjamin R; Affatigato Louisa M; Sheffield Val C; Stone Edwin M
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma.
American journal of ophthalmology 2003;136(5):904-10.
2003: Mackey David A; Healey Danielle L; Fingert John H; Coote Michael A; Wong Tiffany L; Wilkinson Colleen H; McCartney Paul J; Rait Julian L; de Graaf A Pauline; Stone Edwin M; Craig Jamie E
Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation.
Archives of ophthalmology 2003;121(8):1172-80.
2003: Oh Kean T; Longmuir Reid; Oh Dawn M; Stone Edwin M; Kopp Kelly; Brown Jeremiah; Fishman Gerald A; Sonkin Peter; Gehrs Karen M; Weleber Richard G
Comparison of the clinical expression of retinitis pigmentosa associated with rhodopsin mutations at codon 347 and codon 23.
American journal of ophthalmology 2003;136(2):306-13.
2003: Schwartz Sharon B; Aleman Tomas S; Cideciyan Artur V; Swaroop Anand; Jacobson Samuel G; Stone Edwin M
De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa.
Investigative ophthalmology & visual science 2003;44(8):3593-7.
2003: Fishman Gerald A; Stone Edwin M; Eliason David A; Taylor Chris M; Lindeman Martin; Derlacki Deborah J
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy.
Archives of ophthalmology 2003;121(6):851-5.
2003: Wilkinson Colleen H; van der Straaten David; Craig Jamie E; Coote Michael A; McCartney Paul J; Stankovich Jim; Stone Edwin M; Mackey David A
Tonography demonstrates reduced facility of outflow of aqueous humor in myocilin mutation carriers.
Journal of glaucoma 2003;12(3):237-42.
2003: Jacobson Samuel G; Cideciyan Artur V; Aleman Tomas S; Pianta Michael J; Sumaroka Alexander; Schwartz Sharon B; Smilko Elaine E; Milam Ann H; Sheffield Val C; Stone Edwin M
Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination.
Human molecular genetics 2003;12(9):1073-8.
2003: Shepard Allan R; Jacobson Nasreen; Sui Ruifang; Steely H Thomas; Lotery Andrew J; Stone Edwin M; Clark Abbot F
Characterization of rabbit myocilin: Implications for human myocilin glycosylation and signal peptide usage.
BMC genetics 2003;4():5.
2003: Milam Ann H; Barakat Mark R; Gupta Nisha; Rose Linda; Aleman Tomas S; Pianta Michael J; Cideciyan Artur V; Sheffield Val C; Stone Edwin M; Jacobson Samuel G
Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis.
Ophthalmology 2003;110(3):549-58.
2003: Honkanen Robert A; Nishimura Darryl Y; Swiderski Ruth E; Bennett Steven R; Hong Sungpyo; Kwon Young H; Stone Edwin M; Sheffield Val C; Alward Wallace L M
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.
American journal of ophthalmology 2003;135(3):368-75.
2003: Pianta Michael J; Aleman Tomas S; Cideciyan Artur V; Sunness Janet S; Li Yuanyuan; Campochiaro Betsy A; Campochiaro Peter A; Zack Donald J; Stone Edwin M; Jacobson Samuel G
In vivo micropathology of Best macular dystrophy with optical coherence tomography.
Experimental eye research 2003;76(2):203-11.
2003: Mykytyn Kirk; Nishimura Darryl Y; Searby Charles C; Beck Gretel; Bugge Kevin; Haines Heidi L; Cornier Alberto S; Cox Gerald F; Fulton Anne B; Carmi Rivka; Iannaccone Alessandro; Jacobson Samuel G; Weleber Richard G; Wright Alan F; Riise Ruth; Hennekam Raoul C M; Lüleci Güven; Berker-Karauzum Sibel; Biesecker Leslie G; Stone Edwin M; Sheffield Val C
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
American journal of human genetics 2003;72(2):429-37.
2003: Stone Edwin M
Finding and interpreting genetic variations that are important to ophthalmologists.
Transactions of the American Ophthalmological Society 2003;101():437-84.
2002: Graul Thomas A; Kwon Young H; Zimmerman M Bridget; Kim Chang-Sik; Sheffield Val C; Stone Edwin M; Alward Wallace L M
A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin Gln368Stop mutation.
American journal of ophthalmology 2002;134(6):884-90.
2002: Fingert John H; Stone Edwin M; Sheffield Val C; Alward Wallace L M
Myocilin glaucoma.
Survey of ophthalmology 2002;47(6):547-61.
2002: Alward Wallace L M; Kwon Young H; Khanna Cheryl L; Johnson A Tim; Hayreh Sohan S; Zimmerman M Bridget; Narkiewicz Joanna; Andorf Jeaneen L; Moore Paula A; Fingert John H; Sheffield Val C; Stone Edwin M
Variations in the myocilin gene in patients with open-angle glaucoma.
Archives of ophthalmology 2002;120(9):1189-97.
2002: Mykytyn Kirk; Nishimura Darryl Y; Searby Charles C; Shastri Mythreyi; Yen Hsan-jan; Beck John S; Braun Terry; Streb Luan M; Cornier Alberto S; Cox Gerald F; Fulton Anne B; Carmi Rivka; Lüleci Güven; Chandrasekharappa Settara C; Collins Francis S; Jacobson Samuel G; Heckenlively John R; Weleber Richard G; Stone Edwin M; Sheffield Val C
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
Nature genetics 2002;31(4):435-8.
2002: Grover Sandeep; Fishman Gerald A; Stone Edwin M
Atypical presentation of pattern dystrophy in two families with peripherin/RDS mutations.
Ophthalmology 2002;109(6):1110-7.
2002: Lotery Andrew J; Derksen Todd A; Russell Stephen R; Mullins Robert F; Sauter Sybille; Affatigato Louisa M; Stone Edwin M; Davidson Beverly L
Gene transfer to the nonhuman primate retina with recombinant feline immunodeficiency virus vectors.
Human gene therapy 2002;13(6):689-96.
2002: Duncan Jacque L; Aleman Tomas S; Gardner Leigh M; De Castro Elaine; Marks Daniel A; Emmons Jessica M; Bieber Michelle L; Steinberg Janet D; Bennett Jean; Stone Edwin M; MacDonald Ian M; Cideciyan Artur V; Maguire Maureen G; Jacobson Samuel G
Macular pigment and lutein supplementation in choroideremia.
Experimental eye research 2002;74(3):371-81.
2002: Borges Adriana Silva; Susanna Remo; Carani José Carlos Eudes; Betinjane Alberto J; Alward Wallace L; Stone Edwin M; Sheffield Val C; Nishimura Darryl Y
Genetic analysis of PITX2 and FOXC1 in Rieger Syndrome patients from Brazil.
Journal of glaucoma 2002;11(1):51-6.
2002: Milam Ann H; Rose Linda; Cideciyan Artur V; Barakat Mark R; Tang Wai-Xing; Gupta Nisha; Aleman Tomas S; Wright Alan F; Stone Edwin M; Sheffield Val C; Jacobson Samuel G
The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration.
Proceedings of the National Academy of Sciences of the United States of America 2002;99(1):473-8.
2001: Kawase C; Kawase K; Taniguchi T; Sugiyama K; Yamamoto T; Kitazawa Y; Alward W L; Stone E M; Nishimura D Y; Sheffield V C
Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients.
Journal of glaucoma 2001;10(6):477-82.
2001: Shepard A R; Jacobson N; Fingert J H; Stone E M; Sheffield V C; Clark A F
Delayed secondary glucocorticoid responsiveness of MYOC in human trabecular meshwork cells.
Investigative ophthalmology & visual science 2001;42(13):3173-81.
2001: Kuehn M H; Stone E M; Hageman G S
Organization of the human IMPG2 gene and its evaluation as a candidate gene in age-related macular degeneration and other retinal degenerative disorders.
Investigative ophthalmology & visual science 2001;42(13):3123-9.
2001: Allen R C; Webster A R; Sui R; Brown J; Taylor C M; Stone E M
Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau Disease.
Archives of ophthalmology 2001;119(11):1659-65.
2001: Milam A H; De Castro E B; Smith J E; Tang W X; John S K; Gorin M B; Stone E M; Aguirre G D; Jacobson S G
Concentric retinitis pigmentosa: clinicopathologic correlations.
Experimental eye research 2001;73(4):493-508.
2001: Biswas S; Munier F L; Yardley J; Hart-Holden N; Perveen R; Cousin P; Sutphin J E; Noble B; Batterbury M; Kielty C; Hackett A; Bonshek R; Ridgway A; McLeod D; Sheffield V C; Stone E M; Schorderet D F; Black G C
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.
Human molecular genetics 2001;10(21):2415-23.
2001: Stone E M; Sheffield V C; Hageman G S
Molecular genetics of age-related macular degeneration.
Human molecular genetics 2001;10(20):2285-92.
2001: Lotery A J; Malik A; Shami S A; Sindhi M; Chohan B; Maqbool C; Moore P A; Denton M J; Stone E M
CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation.
Ophthalmic genetics 2001;22(3):163-9.
2001: Craig J E; Baird P N; Healey D L; McNaught A I; McCartney P J; Rait J L; Dickinson J L; Roe L; Fingert J H; Stone E M; Mackey D A
Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.
Ophthalmology 2001;108(9):1607-20.
2001: Clark A F; Steely H T; Dickerson J E; English-Wright S; Stropki K; McCartney M D; Jacobson N; Shepard A R; Clark J I; Matsushima H; Peskind E R; Leverenz J B; Wilkinson C W; Swiderski R E; Fingert J H; Sheffield V C; Stone E M
Glucocorticoid induction of the glaucoma gene MYOC in human and monkey trabecular meshwork cells and tissues.
Investigative ophthalmology & visual science 2001;42(8):1769-80.
2001: Mykytyn K; Braun T; Carmi R; Haider N B; Searby C C; Shastri M; Beck G; Wright A F; Iannaccone A; Elbedour K; Riise R; Baldi A; Raas-Rothschild A; Gorman S W; Duhl D M; Jacobson S G; Casavant T; Stone E M; Sheffield V C
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.
Nature genetics 2001;28(2):188-91.
2001: Sheffield V C; Nishimura D; Stone E M
The molecular genetics of Bardet-Biedl syndrome.
Current opinion in genetics & development 2001;11(3):317-21.
2001: Guymer R H; Héon E; Lotery A J; Munier F L; Schorderet D F; Baird P N; McNeil R J; Haines H; Sheffield V C; Stone E M
Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration.
Archives of ophthalmology 2001;119(5):745-51.
2001: Clark A F; Kawase K; English-Wright S; Lane D; Steely H T; Yamamoto T; Kitazawa Y; Kwon Y H; Fingert J H; Swiderski R E; Mullins R F; Hageman G S; Alward W L; Sheffield V C; Stone E M
Expression of the glaucoma gene myocilin (MYOC) in the human optic nerve head.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2001;15(7):1251-3.
2001: Webster A R; Héon E; Lotery A J; Vandenburgh K; Casavant T L; Oh K T; Beck G; Fishman G A; Lam B L; Levin A; Heckenlively J R; Jacobson S G; Weleber R G; Sheffield V C; Stone E M
An analysis of allelic variation in the ABCA4 gene.
Investigative ophthalmology & visual science 2001;42(6):1179-89.
2001: Wang W H; McNatt L G; Shepard A R; Jacobson N; Nishimura D Y; Stone E M; Sheffield V C; Clark A F
Optimal procedure for extracting RNA from human ocular tissues and expression profiling of the congenital glaucoma gene FOXC1 using quantitative RT-PCR.
Molecular vision 2001;7():89-94.
2001: Nishimura D Y; Searby C C; Carmi R; Elbedour K; Van Maldergem L; Fulton A B; Lam B L; Powell B R; Swiderski R E; Bugge K E; Haider N B; Kwitek-Black A E; Ying L; Duhl D M; Gorman S W; Heon E; Iannaccone A; Bonneau D; Biesecker L G; Jacobson S G; Stone E M; Sheffield V C
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).
Human molecular genetics 2001;10(8):865-74.
2001: Lotery A J; Jacobson S G; Fishman G A; Weleber R G; Fulton A B; Namperumalsamy P; Héon E; Levin A V; Grover S; Rosenow J R; Kopp K K; Sheffield V C; Stone E M
Mutations in the CRB1 gene cause Leber congenital amaurosis.
Archives of ophthalmology 2001;119(3):415-20.
2001: Nishimura D Y; Searby C C; Alward W L; Walton D; Craig J E; Mackey D A; Kawase K; Kanis A B; Patil S R; Stone E M; Sheffield V C
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.
American journal of human genetics 2001;68(2):364-72.
2001: Jacobson N; Andrews M; Shepard A R; Nishimura D; Searby C; Fingert J H; Hageman G; Mullins R; Davidson B L; Kwon Y H; Alward W L; Stone E M; Clark A F; Sheffield V C
Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor.
Human molecular genetics 2001;10(2):117-25.
2001: Fingert J H; Clark A F; Craig J E; Alward W L; Snibson G R; McLaughlin M; Tuttle L; Mackey D A; Sheffield V C; Stone E M
Evaluation of the myocilin (MYOC) glaucoma gene in monkey and human steroid-induced ocular hypertension.
Investigative ophthalmology & visual science 2001;42(1):145-52.
2001: Chung M M; Oh K T; Streb L M; Kimura A E; Stone E M
Visual outcome following subretinal hemorrhage in Best disease.
Retina (Philadelphia, Pa.) 2001;21(6):575-80.
2000: Miano M G; Jacobson S G; Carothers A; Hanson I; Teague P; Lovell J; Cideciyan A V; Haider N; Stone E M; Sheffield V C; Wright A F
Pitfalls in homozygosity mapping.
American journal of human genetics 2000;67(5):1348-51.
2000: Swiderski R E; Ross J L; Fingert J H; Clark A F; Alward W L; Stone E M; Sheffield V C
Localization of MYOC transcripts in human eye and optic nerve by in situ hybridization.
Investigative ophthalmology & visual science 2000;41(11):3420-8.
2000: Oh K T; Weleber R G; Lotery A; Oh D M; Billingslea A M; Stone E M
Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation.
Archives of ophthalmology 2000;118(9):1269-76.
2000: Slavotinek A M; Stone E M; Mykytyn K; Heckenlively J R; Green J S; Heon E; Musarella M A; Parfrey P S; Sheffield V C; Biesecker L G
Mutations in MKKS cause Bardet-Biedl syndrome.
Nature genetics 2000;26(1):15-6.
2000: Jacobson S G; Cideciyan A V; Iannaccone A; Weleber R G; Fishman G A; Maguire A M; Affatigato L M; Bennett J; Pierce E A; Danciger M; Farber D B; Stone E M
Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.
Investigative ophthalmology & visual science 2000;41(7):1898-908.
2000: Lotery A J; Munier F L; Fishman G A; Weleber R G; Jacobson S G; Affatigato L M; Nichols B E; Schorderet D F; Sheffield V C; Stone E M
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.
Investigative ophthalmology & visual science 2000;41(6):1291-6.
2000: Lotery A J; Namperumalsamy P; Jacobson S G; Weleber R G; Fishman G A; Musarella M A; Hoyt C S; Héon E; Levin A; Jan J; Lam B; Carr R E; Franklin A; Radha S; Andorf J L; Sheffield V C; Stone E M
Mutation analysis of 3 genes in patients with Leber congenital amaurosis.
Archives of ophthalmology 2000;118(4):538-43.
2000: Williams-Lyn D; Flanagan J; Buys Y; Trope G E; Fingert J; Stone E M; Héon E
The genetic aspects of adult-onset glaucoma: a perspective from the Greater Toronto area.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2000;35(1):12-7.
2000: Haider N B; Jacobson S G; Cideciyan A V; Swiderski R; Streb L M; Searby C; Beck G; Hockey R; Hanna D B; Gorman S; Duhl D; Carmi R; Bennett J; Weleber R G; Fishman G A; Wright A F; Stone E M; Sheffield V C
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.
Nature genetics 2000;24(2):127-31.
1999: Kanis A B; Al-Rajhi A A; Taylor C M; Mathers W D; Folberg R Y; Nishimura D Y; Sheffield V C; Stone E M
Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci.
Ophthalmic genetics 1999;20(4):243-9.
1999: Mellott M L; Brown J; Fingert J H; Taylor C M; Keech R V; Sheffield V C; Stone E M
Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly.
Archives of ophthalmology 1999;117(12):1630-3.
1999: Haider N B; Searby C; Galperin E; Mintz L; Horowitz M; Stone E M; Sheffield V C
Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1).
Gene 1999;240(1):227-32.
1999: Swiderski R E; Reiter R S; Nishimura D Y; Alward W L; Kalenak J W; Searby C S; Stone E M; Sheffield V C; Lin J J
Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects.
Developmental dynamics : an official publication of the American Association of Anatomists 1999;216(1):16-27.
1999: Gao Y Q; Danciger M; Longmuir R; Piriev N I; Zhao D Y; Heckenlively J R; Fishman G A; Weleber R G; Jacobson S G; Stone E M; Farber D B
Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations.
Investigative ophthalmology & visual science 1999;40(8):1818-22.
1999: Stone E M; Lotery A J; Munier F L; Héon E; Piguet B; Guymer R H; Vandenburgh K; Cousin P; Nishimura D; Swiderski R E; Silvestri G; Mackey D A; Hageman G S; Bird A C; Sheffield V C; Schorderet D F
A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.
Nature genetics 1999;22(2):199-202.
1999: Swiderski R E; Ying L; Cassell M D; Alward W L; Stone E M; Sheffield V C
Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain.
Brain research. Molecular brain research 1999;68(1-2):64-72.
1999: Fingert J H; Héon E; Liebmann J M; Yamamoto T; Craig J E; Rait J; Kawase K; Hoh S T; Buys Y M; Dickinson J; Hockey R R; Williams-Lyn D; Trope G; Kitazawa Y; Ritch R; Mackey D A; Alward W L; Sheffield V C; Stone E M
Analysis of myocilin mutations in 1703 glaucoma patients from five different populations.
Human molecular genetics 1999;8(5):899-905.
1999: Fishman G A; Stone E M; Grover S; Derlacki D J; Haines H L; Hockey R R
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.
Archives of ophthalmology 1999;117(4):504-10.
1998: Stone E M; Webster A R; Vandenburgh K; Streb L M; Hockey R R; Lotery A J; Sheffield V C
Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration.
Nature genetics 1998;20(4):328-9.
1998: Jacobson S G; Cideciyan A V; Huang Y; Hanna D B; Freund C L; Affatigato L M; Carr R E; Zack D J; Stone E M; McInnes R R
Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.
Investigative ophthalmology & visual science 1998;39(12):2417-26.
1998: Millá E; Héon E; Grounauer P A; Piguet B; Ducrey N; Stone E M; Schorderet D F; Munier F L
Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa.
Ophthalmic genetics 1998;19(3):131-9.
1998: Nishimura D Y; Swiderski R E; Alward W L; Searby C C; Patil S R; Bennet S R; Kanis A B; Gastier J M; Stone E M; Sheffield V C
The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.
Nature genetics 1998;19(2):140-7.
1998: Cideciyan A V; Hood D C; Huang Y; Banin E; Li Z Y; Stone E M; Milam A H; Jacobson S G
Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man.
Proceedings of the National Academy of Sciences of the United States of America 1998;95(12):7103-8.
1998: Howe J R; Roth S; Ringold J C; Summers R W; Järvinen H J; Sistonen P; Tomlinson I P; Houlston R S; Bevan S; Mitros F A; Stone E M; Aaltonen L A
Mutations in the SMAD4/DPC4 gene in juvenile polyposis.
Science (New York, N.Y.) 1998;280(5366):1086-8.
1998: Howe J R; Ringold J C; Summers R W; Mitros F A; Nishimura D Y; Stone E M
A gene for familial juvenile polyposis maps to chromosome 18q21.1.
American journal of human genetics 1998;62(5):1129-36.
1998: Fingert J H; Ying L; Swiderski R E; Nystuen A M; Arbour N C; Alward W L; Sheffield V C; Stone E M
Characterization and comparison of the human and mouse GLC1A glaucoma genes.
Genome research 1998;8(4):377-84.
1998: Alward W L; Fingert J H; Coote M A; Johnson A T; Lerner S F; Junqua D; Durcan F J; McCartney P J; Mackey D A; Sheffield V C; Stone E M
Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)
The New England journal of medicine 1998;338(15):1022-7.
1998: Alward W L; Semina E V; Kalenak J W; Héon E; Sheth B P; Stone E M; Murray J C
Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene.
American journal of ophthalmology 1998;125(1):98-100.
1997: Walder R Y; Shalev H; Brennan T M; Carmi R; Elbedour K; Scott D A; Hanauer A; Mark A L; Patil S; Stone E M; Sheffield V C
Familial hypomagnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation breakpoint.
Human molecular genetics 1997;6(9):1491-7.
1997: Arbour N C; Zlotogora J; Knowlton R G; Merin S; Rosenmann A; Kanis A B; Rokhlina T; Stone E M; Sheffield V C
Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling.
Human molecular genetics 1997;6(5):689-94.
1997: Nystuen A; Costeff H; Elpeleg O N; Apter N; Bonné-Tamir B; Mohrenweiser H; Haider N; Stone E M; Sheffield V C
Iraqi-Jewish kindreds with optic atrophy plus (3-methylglutaconic aciduria type 3) demonstrate linkage disequilibrium with the CTG repeat in the 3' untranslated region of the myotonic dystrophy protein kinase gene.
Human molecular genetics 1997;6(4):563-9.
1997: Nichols B E; Thompson H S; Stone E M
Evaluation of a significantly shorter version of the Farnsworth-Munsell 100-hue test in patients with three different optic neuropathies.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 1997;17(1):1-6.
1997: Fishman G A; Stone E M; Alexander K R; Gilbert L D; Derlacki D J; Butler N S
Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy.
Ophthalmology 1997;104(2):299-306.
1997: Brown J; Fingert J H; Taylor C M; Lake M; Sheffield V C; Stone E M
Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)
Archives of ophthalmology 1997;115(1):95-9.
1997: Stone E M; Fingert J H; Alward W L; Nguyen T D; Polansky J R; Sunden S L; Nishimura D; Clark A F; Nystuen A; Nichols B E; Mackey D A; Ritch R; Kalenak J W; Craven E R; Sheffield V C
Identification of a gene that causes primary open angle glaucoma.
Science (New York, N.Y.) 1997;275(5300):668-70.
1997: Sheffield V C; Pierpont M E; Nishimura D; Beck J S; Burns T L; Berg M A; Stone E M; Patil S R; Lauer R M
Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis.
Human molecular genetics 1997;6(1):117-21.
1996: Piguet B; Héon E; Munier F L; Grounauer P A; Niemeyer G; Butler N; Schorderet D F; Sheffield V C; Stone E M
Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene.
Ophthalmic genetics 1996;17(4):175-86.
1996: Sunden S L; Alward W L; Nichols B E; Rokhlina T R; Nystuen A; Stone E M; Sheffield V C
Fine mapping of the autosomal dominant juvenile open angle glaucoma (GLC1A) region and evaluation of candidate genes.
Genome research 1996;6(9):862-9.
1996: Alward W L; Johnson A T; Nishimura D Y; Sheffield V C; Stone E M
Molecular genetics of glaucoma: current status.
Journal of glaucoma 1996;5(4):276-84.
1996: Scott D A; Carmi R; Elbedour K; Yosefsberg S; Stone E M; Sheffield V C
An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds.
American journal of human genetics 1996;59(2):385-91.
1996: Jacobson S G; Cideciyan A V; Kemp C M; Sheffield V C; Stone E M
Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene.
Investigative ophthalmology & visual science 1996;37(8):1662-74.
1996: Nystuen A; Benke P J; Merren J; Stone E M; Sheffield V C
A cerebellar ataxia locus identified by DNA pooling to search for linkage disequilibrium in an isolated population from the Cayman Islands.
Human molecular genetics 1996;5(4):525-31.
1996: Sheffield V C; Kraiem Z; Beck J C; Nishimura D; Stone E M; Salameh M; Sadeh O; Glaser B
Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification.
Nature genetics 1996;12(4):424-6.
1996: Héon E; Piguet B; Munier F; Sneed S R; Morgan C M; Forni S; Pescia G; Schorderet D; Taylor C M; Streb L M; Wiles C D; Nishimura D Y; Sheffield V C; Stone E M
Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21.
Archives of ophthalmology 1996;114(2):193-8.
1995: Carmi R; Elbedour K; Stone E M; Sheffield V C
Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.
American journal of medical genetics 1995;59(2):199-203.
1995: Scott D A; Carmi R; Elbedour K; Duyk G M; Stone E M; Sheffield V C
Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel.
American journal of human genetics 1995;57(4):965-8.
1995: Jacobson S G; Cideciyan A V; Regunath G; Rodriguez F J; Vandenburgh K; Sheffield V C; Stone E M
Night blindness in Sorsby's fundus dystrophy reversed by vitamin A.
Nature genetics 1995;11(1):27-32.
1995: Héon E; Sheth B P; Kalenak J W; Sunden S L; Streb L M; Taylor C M; Alward W L; Sheffield V C; Stone E M
Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25).
Human molecular genetics 1995;4(8):1435-9.
1995: Sheffield V C; Nishimura D Y; Stone E M
Novel approaches to linkage mapping.
Current opinion in genetics & development 1995;5(3):335-41.
1995: Héon E; Mathers W D; Alward W L; Weisenthal R W; Sunden S L; Fishbaugh J A; Taylor C M; Krachmer J H; Sheffield V C; Stone E M
Linkage of posterior polymorphous corneal dystrophy to 20q11.
Human molecular genetics 1995;4(3):485-8.
1995: Carmi R; Rokhlina T; Kwitek-Black A E; Elbedour K; Nishimura D; Stone E M; Sheffield V C
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15.
Human molecular genetics 1995;4(1):9-13.
1995: Brown D M; Vandenburgh K; Kimura A E; Weingeist T A; Sheffield V C; Stone E M
Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy).
Human molecular genetics 1995;4(1):141-2.
1994: Joos K M; Kimura A E; Vandenburgh K; Bartley J A; Stone E M
Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene.
Archives of ophthalmology 1994;112(12):1574-9.
1994: Folberg R; Stone E M; Sheffield V C; Mathers W D
The relationship between granular, lattice type 1, and Avellino corneal dystrophies. A histopathologic study.
Archives of ophthalmology 1994;112(8):1080-5.
1994: Sheffield V C; Carmi R; Kwitek-Black A; Rokhlina T; Nishimura D; Duyk G M; Elbedour K; Sunden S L; Stone E M
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.
Human molecular genetics 1994;3(8):1331-5.
1994: Kemp C M; Jacobson S G; Cideciyan A V; Kimura A E; Sheffield V C; Stone E M
RDS gene mutations causing retinitis pigmentosa or macular degeneration lead to the same abnormality in photoreceptor function.
Investigative ophthalmology & visual science 1994;35(8):3154-62.
1994: Stone E M; Nichols B E; Kimura A E; Weingeist T A; Drack A; Sheffield V C
Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q.
Archives of ophthalmology 1994;112(6):765-72.
1994: Brown D M; Kimura A E; Weingeist T A; Stone E M
Erosive vitreoretinopathy. A new clinical entity.
Ophthalmology 1994;101(4):694-704.
1994: Nichols B E; Bascom R; Litt M; McInnes R; Sheffield V C; Stone E M
Refining the locus for Best vitelliform macular dystrophy and mutation analysis of the candidate gene ROM1.
American journal of human genetics 1994;54(1):95-103.
1994: Stone E M; Mathers W D; Rosenwasser G O; Holland E J; Folberg R; Krachmer J H; Nichols B E; Gorevic P D; Taylor C M; Streb L M
Three autosomal dominant corneal dystrophies map to chromosome 5q.
Nature genetics 1994;6(1):47-51.
1993: Kwitek-Black A E; Carmi R; Duyk G M; Buetow K H; Elbedour K; Parvari R; Yandava C N; Stone E M; Sheffield V C
Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.
Nature genetics 1993;5(4):392-6.
1993: Nichols B E; Sheffield V C; Stone E M
A user-friendly Hypercard interface for human linkage analysis.
Computer applications in the biosciences : CABIOS 1993;9(6):757-9.
1993: Nichols B E; Drack A V; Vandenburgh K; Kimura A E; Sheffield V C; Stone E M
A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea.
Human molecular genetics 1993;2(8):1347.
1993: Sheffield V C; Stone E M; Alward W L; Drack A V; Johnson A T; Streb L M; Nichols B E
Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31.
Nature genetics 1993;4(1):47-50.
1993: Sheffield V C; Beck J S; Kwitek A E; Sandstrom D W; Stone E M
The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions.
Genomics 1993;16(2):325-32.
1993: Nichols B E; Drack A V; Vandenburgh K; Kimura A E; Sheffield V C; Stone E M
A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea.
Human molecular genetics 1993;2(5):601-3.
1993: Johnson A T; Drack A V; Kwitek A E; Cannon R L; Stone E M; Alward W L
Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma.
Ophthalmology 1993;100(4):524-9.
1993: Nichols B E; Sheffield V C; Vandenburgh K; Drack A V; Kimura A E; Stone E M
Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.
Nature genetics 1993;3(3):202-7.
1992: Stone E M; Kimura A E; Folk J C; Bennett S R; Nichols B E; Streb L M; Sheffield V C
Genetic linkage of autosomal dominant neovascular inflammatory vitreoretinopathy to chromosome 11q13.
Human molecular genetics 1992;1(9):685-9.
1992: Brown D M; Nichols B E; Weingeist T A; Sheffield V C; Kimura A E; Stone E M
Procollagen II gene mutation in Stickler syndrome.
Archives of ophthalmology 1992;110(11):1589-93.
1992: Fishman G A; Vandenburgh K; Stone E M; Gilbert L D; Alexander K R; Sheffield V C
Ocular findings associated with rhodopsin gene codon 267 and codon 190 mutations in dominant retinitis pigmentosa.
Archives of ophthalmology 1992;110(11):1582-8.
1992: Stone E M; Nichols B E; Streb L M; Kimura A E; Sheffield V C
Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13.
Nature genetics 1992;1(4):246-50.
1992: Fishman G A; Stone E M; Gilbert L D; Sheffield V C
Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa.
Archives of ophthalmology 1992;110(5):646-53.
1992: Sheffield V C; Beck J S; Nichols B; Cousineau A; Lidral A C; Stone E M
Detection of multiallele polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis.
American journal of human genetics 1992;50(3):567-75.
1992: Stone E M; Newman N J; Miller N R; Johns D R; Lott M T; Wallace D C
Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation.
Journal of clinical neuro-ophthalmology 1992;12(1):10-4.
1992: Fishman G A; Stone E M; Sheffield V C; Gilbert L D; Kimura A E
Ocular findings associated with rhodopsin gene codon 17 and codon 182 transition mutations in dominant retinitis pigmentosa.
Archives of ophthalmology 1992;110(1):54-62.
1991: Stone E M; Kimura A E; Nichols B E; Khadivi P; Fishman G A; Sheffield V C
Regional distribution of retinal degeneration in patients with the proline to histidine mutation in codon 23 of the rhodopsin gene.
Ophthalmology 1991;98(12):1806-13.
1991: Fishman G A; Stone E M; Gilbert L D; Kenna P; Sheffield V C
Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa.
Archives of ophthalmology 1991;109(10):1387-93.
1991: Sheffield V C; Fishman G A; Beck J S; Kimura A E; Stone E M
Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis.
American journal of human genetics 1991;49(4):699-706.
1990: Stone E M; Coppinger J M; Kardon R H; Donelson J
Mae III positively detects the mitochondrial mutation associated with type I Leber's hereditary optic neuropathy.
Archives of ophthalmology 1990;108(10):1417-20.
1990: Bennett S R; Folk J C; Kimura A E; Russell S R; Stone E M; Raphtis E M
Autosomal dominant neovascular inflammatory vitreoretinopathy.
Ophthalmology 1990;97(9):1125-35; discussion 1135-6.
1990: Blodi C F; Stone E M
Best's vitelliform dystrophy.
Ophthalmic paediatrics and genetics 1990;11(1):49-59.
1990: Johnson A T; Folberg R; Vrabec M P; Florakis G J; Stone E M; Krachmer J H
The pathology of posterior amorphous corneal dystrophy.
Ophthalmology 1990;97(1):104-9.

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