Identification of gene defects leading to non-progressive and progressive ocular diseases
Team leaders : Isabelle Audo & Christina Zeitz
INTRODUCTION | TEAM | PRESENTATION | RESEARCH AREAS | SUPPORT | PUBLICATIONS


Introduction
We study large patient cohorts to identify gene defects underlying different forms of inherited retinal diseases and develop gene-based innovative therapies
Presentation
We focus our studies on two areas: deciphering underlying genetic defects of IRDs and developing gene-based innovative therapies. To enhance the identification of genetic defects, we use new technologies such as next generation sequencing (NGS). Our group has established a comprehensive panel of targeted NGS to analyze coding sequences of genes involved in IRDs, identify causative gene defects, and perform whole exome or whole genome sequencing on cases with no mutation on known genes. Our research involves a large cohort of clinically phenotyped patients with various IRDs to further delineate phenotype/ genotype correlations. We use in vitro and in vivo approaches to characterize the function of novel genes and better understand the genetic mechanisms involved in the development of IRDs, including disease modeling using iPSCs. Our project also aims at developing gene-based innovative therapies for CSNB .
Research areas
- Gene defect identification in inherited retinal diseases applying Sanger, targeted and whole exome Next Generation Sequencing;
- Functional studies for a better understanding of retinal pathophysiology;
- Disease modelling using IPSCs
- Gene replacement therapy targeting bipolar cells for CSNB;
Team Leader
Publications
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2018
Phenotypic Characteristics of a French Cohort of Patients with X-Linked Retinoschisis.
Orès R, Mohand-Said S, Dhaenens CM, Antonio A, Zeitz C, Augstburger E, Andrieu C, Sahel JA, Audo I.
Ophthalmology. 2018 May 5. pii: S0161-6420(17)33357-2. doi: 10.1016/j.ophtha.2018.03.057.
Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients.
Douillard A, Picot MC, Delcourt C, Defoort-Dhellemmes S, Marzouka NA, Lacroux A, Zanlonghi X, Drumare I, Jozefowicz E, Bocquet B, Baudoin C, Perez-Roustit S, Arsène S, Gissot V, Devin F, Arndt C, Wolff B, Mauget-Faÿsse M, Quaranta M, Mura T, Deplanque D, Oubraham H, Cohen SY, Gastaud P, Zambrowski O, Creuzot-Garcher C, Saïd SM, Sahel JA, Souied E, Milazzo S, Garavito RB, Kalatzis V, Puech B, Hamel C, Audo I, Meunier I.
Sci Rep. 2018 May 1;8(1):6840. doi: 10.1038/s41598-018-25003-9.
Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models.
Cremers FPM, Boon CJF, Bujakowska K, Zeitz C.
Genes (Basel). 2018 Apr 16;9(4). pii: E215. doi: 10.3390/genes9040215.
Variability of chloroquine and hydroxychloroquine retinopathy among various ethnicities.
Giocanti-Aurégan A, Couturier A, Girmens JF, Le Mer Y, Massamba N, Barreau E, Audo I.
J Fr Ophtalmol. 2018 Apr;41(4):363-367. doi: 10.1016/j.jfo.2017.08.014.
MERTK mutations update in inherited retinal diseases.
Audo I, Mohand-Said S, Boulanger-Scemama E, Zanlonghi X, Condroyer C, Démontant V, Boyard F, Antonio A, Méjécase C, El Shamieh S, Sahel JA, Zeitz C.
Hum Mutat. 2018 Apr 16. doi: 10.1002/humu.23431.
Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia.
Matet A, Kohl S, Baumann B, Antonio A, Mohand-Said S, Sahel JA, Audo I.
Sci Rep. 2018 Apr 4;8(1):5665. doi: 10.1038/s41598-018-23919-w.
Retinal findings in a patient of French ancestry with CABP4-related retinal disease.
Smirnov VM, Zeitz C, Soumittra N, Audo I, Defoort-Dhellemmes S.
Doc Ophthalmol. 2018 Apr;136(2):135-143. doi: 10.1007/s10633-018-9629-y. Epub 2018 Mar 10.
Overview of Congenital Stationary Night Blindness with Predominantly Normal Fundus Appearance
Zeitz C, Friedburg C, Preising MN, Lorenz B.
Epub 2018 Feb 1. German.
Autosomal dominant vitreoretinochoroidopathy: when molecular genetic testing helps clinical diagnosis.
Boulanger-Scemama E, Sahel JA, Mohand-Said S, Antonio A, Condroyer C, Zeitz C, Audo I.
Retina. 2018 Jan 23. doi: 10.1097/IAE. -
2017
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
Luscan R, Mechaussier S, Paul A, Tian G, Gérard X, Defoort-Dellhemmes S, Loundon N, Audo I, Bonnin S, LeGargasson JF, Dumont J, Goudin N, Garfa-Traoré M, Bras M, Pouliet A, Bessières B, Boddaert N, Sahel JA, Lyonnet S, Kaplan J, Cowan NJ, Rozet JM, Marlin S, Perrault I.
Am J Hum Genet. 2017 Dec 7;101(6):1006-1012. doi: 10.1016/j.ajhg.2017.
A novel nonsense variant in REEP6 is involved in a sporadic rodcone dystrophy case.
Méjécase C, Mohand-Saïd S, El Shamieh S, Antonio A, Condroyer C, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Audo I, Zeitz C
Clin Genet. 2017 Nov 9. doi: 10.1111/cge.13171.
A novel nonsense variant in REEP6 is involved in a sporadic rodcone dystrophy case.
Méjécase C, Mohand-Saïd S, El Shamieh S, Antonio A, Condroyer C, Blanchard S, Letexier M, Saraiva JP, Sahel JA, Audo I, Zeitz C
Clin Genet. 2017 Nov 9. doi: 10.1111/cge.13171.
DHU Vision, and Handicap task force rétine. [Update on recommendations for screening for hydroxychloroquine retinopathy]
Couturier A, Giocanti-Aurégan A, Dupas B, Girmens JF, Le Mer Y, Massamba N, Barreau E, Audo I
J Fr Ophtalmol. 2017 Nov;40(9):793-800. doi: 10.1016/j.jfo.2017.08.002.
Progression of Stargardt Disease as Determined by Fundus Autofluorescence in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 9).
Strauss RW, Muñoz B, Ho A, Jha A, Michaelides M, Cideciyan AV, Audo I, Birch DG, Hariri AH, Nittala MG, Sadda S, West S, Scholl HPN
JAMA Ophthalmol. 2017 Nov 1;135(11):1232-1241. doi: 10.1001/jamaophthalmol.2017.4152.
Further Insights into the Ciliary Gene and Protein KIZ and Its Murine Ortholog PLK1S1 Mutated in Rod-Cone Dystrophy.
El Shamieh S, Méjécase C, Bertelli M, Terray A, Michiels C, Condroyer C, Fouquet S, Sadoun M, Clérin E, Liu B, Léveillard T, Goureau O, Sahel JA, Audo I, Zeitz C.
Genes (Basel). 2017 Oct 18;8(10). pii: E277.
Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation.
Terray A, Fort V, Slembrouck A, Nanteau C, Sahel JA, Reichman S, Audo I, Goureau O.
Stem Cell Res. 2017 Oct 7;25:26-29.
Generation of an induced pluripotent stem cell (iPSC) line from a patient with autosomal dominant retinitis pigmentosa due to a mutation in the NR2E3 gene.
Terray A, Slembrouck A, Nanteau C, Chondroyer C, Zeitz C, Sahel JA, Audo I, Reichman S, Goureau O.
Stem Cell Res. 2017 Oct;24:1-4. doi: 10.1016/j.scr.2017.08.003.
Electrophysiological features and multimodal imaging in ritonavirrelated maculopathy.
Faure C, Paques M, Audo I.
Doc Ophthalmol. 2017 Dec;135(3):241-248. doi: 10.1007/s10633-017-9612-z
Multimodal imaging and functional correlations identify unusual cases of macular retinal pigment epithelium hypopigmentation occurring without functional loss.
Boulanger-Scemama E, Akesbi J, Tick S, Mohand-Said S, Sahel JA, Audo I.
Doc Ophthalmol. 2017 Aug;135(1):77-83.
A novel duplication of PRMD13 causes North Carolina macular dystrophy: overexpression of PRDM13 orthologue in drosophila eye reproduces the human phenotype.
Manes G, Joly W, Guignard T, Smirnov V, Berthemy S, Bocquet B, Audo I, Zeitz C, Sahel J, Cazevieille C, Sénéchal A, Deleuze JF, Blanché-Koch H, Boland A, Carroll P, Geneviève D, Zanlonghi X, Arndt C, Hamel CP, Defoort-Dhellemmes S, Meunier I.
Hum Mol Genet. 2017 Nov 15;26(22):4367-4374. doi: 10.1093/hmg/ddx322.
Retinochoroidal anastomosis associated with enhanced s-cone syndrome.
Zerbib J, Blanco Garavito R, Gerber S, Oubraham H, Sikorav A, Audo I, Kaplan J, Rozet JM, Souied EH.
Retin Cases Brief Rep. 2017 May 22.
Retinitis Pigmentosa and Other Dystrophies.
Mrejen S, Audo I, Bonnel S, Sahel JA.
Dev Ophthalmol. 2017;58:191-201
Novel splicesite mutation in TTLL5 causes cone dystrophy in a consanguineous family.
Dias MS, Hamel CP, Meunier I, Varin J, Blanchard S, Boyard F, Sahel JA, Zeitz C.
Mol Vis. 2017 Mar 18;23:131- 139. eCollection 2017.
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.
Neuillé M, Cao Y, Caplette R, Guerrero-Given D, Thomas C, Kamasawa N, Sahel JA, Hamel CP, Audo I, Picaud S, Martemyanov KA, Zeitz C.
Invest Ophthalmol Vis Sci. 2017 Mar 1;58(3):1768- 1778.
ARL2BP mutations account for 0.1% of autosomal recessive rod-cone dystrophies with the report of a novel splice variant.
Audo I, El Shamieh S, Méjécase C, Michiels C, Demontant V, Antonio A, Condroyer C, Boyard F, Letexier M, Saraiva JP, Blanchard S, Mohand-Saïd S, Sahel JA, Zeitz C.
Clin Genet. 2016 Oct 28. doi: 10.1111/cge.12909.
Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits.
Grassmann F, Kiel C, Zimmermann ME, Gorski M, Grassmann V, Stark K
Genome Med. 2017 Mar 27;9(1):29. -
2016
Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights
Jean-Charles A, Merle H, Audo I, Desoudin C, Bocquet B, Baudoin C, Sidibe M, Mauget-Faÿsse M, Wolff B, Fichard A, Lenaers G, Sahel JA, Gaudric A, Cohen SY, Hamel CP, Meunier I. Martinique
Ophthalmology. 2016 Oct;123(10):2196-204.An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients
Bonnet C, Riahi Z, Chantot-Bastaraud S, Smagghe L, Letexier M, Marcaillou C, Lefèvre GM, Hardelin JP, El-Amraoui A, Singh-Estivalet A, Mohand-Saïd S, Kohl S, Kurtenbach A, Sliesoraityte I, Zobor D, Gherbi S, Testa F, Simonelli F, Banfi S, Fakin A, Glavač D, Jarc-Vidmar M, Zupan A, Battelino S, Martorell Sampol L, Claveria MA, Catala Mora J, Dad S, Møller LB, Rodriguez Jorge J, Hawlina M, Auricchio A, Sahel JA, Marlin S, Zrenner E, Audo I, Petit C.
Eur J Hum Genet. 2016 Jul 27.A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene
Meunier I, Bocquet B, Labesse G, Zeitz C, Defoort-Dhellemmes S, Lacroux A, Mauget-Faysse M, Drumare I, Gamez AS, Mathieu C, Marquette V, Sagot L, Dhaenens CM, Arndt C, Carroll P, Remy-Jardin M, Cohen SY, Sahel JA, Puech B, Audo I, Mrejen S, Hamel CP.
Sci Rep. 2016 Sep 7;6:32544.ProgStar Study Group. Visual Acuity Loss and Associated Risk Factors in the Retrospective Progression of Stargardt Disease Study (ProgStar Report No. 2)
Kong X, Strauss RW, Michaelides M, Cideciyan AV, Sahel JA, Muñoz B, West S, Scholl HP.
Ophthalmology. 2016 Sep;123(9):1887-97.Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical Trial
Douillard A, Picot MC, Delcourt C, Lacroux A, Zanlonghi X, Puech B, Defoort-Dhelemmes S, Drumare I, Jozefowicz E, Bocquet B, Baudoin C, Al-Dain Marzouka N, Perez-Roustit S, Arsène S, Gissot V, Devin F, Arndt C, Wolff B, Mauget-Faÿsse M, Quaranta M, Mura T, Deplanque D, Oubraham H, Cohen SY, Gastaud P, Zambrowsky O, Creuzot-Garcher C, Mohand Saïd S, Blanco Garavito R, Souied E, Sahel JA, Audo I, Hamel C, Meunier I.
Ophthalmology. 2016 Sep;123(9):1865-73.Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.
Vincent A, Audo Ia, Tavares Ea, Maynes JT, Tumber A, Wright T, Li S, Michiels C; GNB3 Consortium, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E.
Am J Hum Genet. 2016 May 5;98(5):1011-9.Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45
Fradin M, Colin E, Hannouche-Bared D, Audo I, Sahel JA, Biskup S, Carré W, Ziegler A, Wilhelm C, Guichet A, Odent S, Bonneau D.
Ophthalmic Genet. 2016 Sep;37(3):357-9.Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness
Neuillé M, Malaichamy S, Vadalà M, Michiels C, Condroyer C, Sachidanandam R, Srilekha S, Arokiasamy T, Letexier M, Démontant V, Sahel JA, Sen P, Audo I, Soumittra N, Zeitz C. Clin Genet. 2016 Jun;89(6):690-9Progression of Stargardt Disease Study Group. The Natural History of the Progression of Atrophy Secondary to Stargardt Disease (ProgStar) Studies: Design and Baseline Characteristics: ProgStar Report No. 1.
Strauss RW, Ho A, Muñoz B, Cideciyan AV, Sahel JA, Sunness JS, Birch DG, Bernstein PS, Michaelides M, Traboulsi EI, Zrenner E, Sadda S, Ervin AM, West S, Scholl HP.
Ophthalmology. 2016 Apr;123(4):817-28.A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D, Souied E, Scholl HP, Bala E, Lee KE, Hunter DJ, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YT, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GH, Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA, Constable IJ, Craig JE, Kitchner TE, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M, Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA, Orlin A, Brucker A, Li M, Curcio CA, Mohand-Saïd S, Sahel JA, Audo I, Benchaboune M, Cree AJ, Rennie CA, Goverdhan SV, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze JF, Igo RP Jr, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Hauser MA, Postel EA, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Smith RT, Khan JC, Shahid H, Moore AT, McGrath JA, Laux R, Brantley MA Jr, Agarwal A, Ersoy L, Caramoy A, Langmann T, Saksens NT, de Jong EK, Hoyng CB, Cain MS, Richardson AJ, Martin TM, Blangero J, Weeks DE, Dhillon B, van Duijn CM, Doheny KF, Romm J, Klaver CC, Hayward C, Gorin MB, Klein ML, Baird PN, den Hollander AI, Fauser S, Yates JR, Allikmets R, Wang JJ, Schaumberg DA, Klein BE, Hagstrom SA, Chowers I, Lotery AJ, Léveillard T, Zhang K, Brilliant MH, Hewitt AW, Swaroop A, Chew EY, Pericak-Vance MA, DeAngelis M, Stambolian D, Haines JL, Iyengar SK, Weber BH, Abecasis GR, Heid IM.
Nat Genet. 2016 Feb;48(2):134-43. doi: 10.1038/ng.3448. Epub 2015 Dec 21.Functional and high-resolution retinal imaging monitoring photoreceptor damage in acute macular neuroretinopathy
Audo I, Gocho K, Rossant F, Mohand-Saïd S, Loquin K, Bloch I, Sahel JA, Paques M.
Graefes Arch Clin Exp Ophthalmol. 2016 May;254(5):855-64. doi: 10.1007/s00417-015-3136-6. -
2015
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.
Boulanger-Scemama E, El Shamieh S, Démontant V, Condroyer C, Antonio A, Michiels C, Boyard F, Saraiva JP, Letexier M, Souied E, Mohand-Saïd S, Sahel JA, Zeitz C, Audo I
Orphanet Journal of Rare Diseases 2015, 10:85Genotypic and phenotypic characterization of P23H line 1 rat model.
Orhan E, Dalkara D, Neuillé M, Lechauve C, Michiels C, Picaud S, Léveillard T, Sahel JA, Naash MI, Lavail MM, Zeitz C, Audo I.
PLoS One. 2015 May 26;10(5):e0127319. doi: 10.1371/journal.pone.0127319. eCollection 2015. PMID:26009893LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation.
Neuillé M, Morgans CW, Cao Y, Orhan E, Michiels C, Sahel JA, Audo I, Duvoisin RM, Martemyanov KA, Zeitz C.
Eur J Neurosci. 2015 May 22. doi: 10.1111/ejn.12959. [Epub ahead of print] PMID:25997951Aripiprazole-induced chorioretinopathy: multimodal imaging and electrophysiological features.
Faure C, Audo I, Zeitz C, Letessier JB, Robert MP.
Doc Ophthalmol. 2015 Mar 20. [Epub ahead of print]PMID:25791769Cone dystrophy in patient with homozygous RP1L1 mutation.
Kikuchi S, Kameya S, Gocho K, El Shamieh S, Akeo K, Sugawara Y, Yamaki K, Zeitz C, Audo I, Takahashi H.
Biomed Res Int. 2015;2015:545243. doi: 10.1155/2015/545243. Epub 2015 Jan 29. PMID:25692141Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy.
El Shamieh S, Boulanger-Scemama E, Lancelot ME, Antonio A, Démontant V, Condroyer C, Letexier M, Saraiva JP, Mohand-Saïd S, Sahel JA, Audo I, Zeitz C.
Biomed Res Int. 2015;2015:485624. doi: 10.1155/2015/485624. Epub 2015 Jan 6.PMID:25692139High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.
Manes G, Guillaumie T, Vos WL, Devos A, Audo I, Zeitz C, Marquette V, Zanlonghi X, Defoort-Dhellemmes S, Puech B, Said SM, Sahel JA, Odent S, Dollfus H, Kaplan J, Dufier JL, Le Meur G, Weber M, Faivre L, Cohen FB, Béroud C, Picot MC, Verdier C, Sénéchal A, Baudoin C, Bocquet B, Findlay JB, Meunier I, Dhaenens CM, Hamel CP.
Am J Ophthalmol. 2015 Feb;159(2):302-14. doi: 10.1016/j.ajo.2014.10.033. Epub 2014 Nov 5.
PMID:25447119Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C, Robson AG, Audo I.
Prog Retin Eye Res. 2015 Mar;45:58-110. doi: 10.1016/j.preteyeres.2014.09.001. Epub 2014 Oct 13. Review.
PMID:25307992Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
Bujakowska KM, Zhang Q, Siemiatkowska AM, Liu Q, Place E, Falk MJ, Consugar M, Lancelot ME, Antonio A, Lonjou C, Carpentier W, Mohand-Saïd S, den Hollander AI, Cremers FP, Leroy BP, Gai X, Sahel JA, van den Born LI, Collin RW, Zeitz C, Audo I, Pierce EA.
Hum Mol Genet. 2015 Jan 1;24(1):230-42. doi: 10.1093/hmg/ddu441. Epub 2014 Aug 28.PMID:25168386 -
2014
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in France and characterization of biochemical and clinical features.
Manes G, Guillaumie T, Vos WL, Devos A, Audo I, Zeitz C, Marquette V, Zanlonghi X, Defoort-Dhellemmes S, Puech B, Mohand Said S, Sahel JA, Odent S, Dollfus H, Kaplan J, Dufier JL, Le Meur G, Weber M, Faivre L, Behar Cohen F, Béroud C, Picot MC, Verdier C, Sénéchal A, Baudoin C, Bocquet B, Findlay JB, Meunier I, Dhaenens CM, Hamel CP.
Am J Ophthalmol. 2014 Nov 5. pii: S0002-9394(14)00698-9. doi: 10.1016/j.ajo.2014.10.033. [Epub ahead of print]Clinical Characteristics and Current Therapies for Inherited Retinal Degenerations.
Sahel JA, Marazova K, Audo I.
Cold Spring Harb Perspect Med. 2014 Oct 16. pii: a017111. doi: 10.1101/cshperspect.a017111. [Epub ahead of print]
Retinal toxicity after intracameral use of a standard dose of cefuroxime during cataract surgery.
Faure C, Perreira D, Audo I.
Doc Ophthalmol. 2014 Oct 16. [Epub ahead of print]Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes.
Meunier I, Manes G, Bocquet B, Marquette V, Baudoin C, Puech B, Defoort-Dhellemmes S, Audo I, Verdet R, Arndt C, Zanlonghi X, Le Meur G, Dhaenens CM, Hamel CP.
Ophthalmology. 2014 Dec;121(12):2406-14. doi: 10.1016/j.ophtha.2014.06.028. Epub 2014 Jul 29.Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2.
Burtscher V, Schicker K, Novikova E, Pöhn B, Stockner T, Kugler C, Singh A, Zeitz C, Lancelot ME, Audo I, Leroy BP, Freissmuth M, Herzig S, Matthes J, Koschak A.
Biochim Biophys Acta. 2014 Aug;1838(8):2053-65. doi: 10.1016/j.bbamem.2014.04.023. Epub 2014 May 4.Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort.
Malaichamy S, Sen P, Sachidanandam R, Arokiasamy T, Lancelot ME, Audo I, Zeitz C, Soumittra N.
Mol Vis. 2014 Mar 21;20:341-51. eCollection 2014. Erratum in: Mol Vis. 2014;20:780.Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.
El Shamieh S, Neuillé M, Terray A, Orhan E, Condroyer C, Démontant V, Michiels C, Antonio A, Boyard F, Lancelot ME, Letexier M, Saraiva JP, Léveillard T, Mohand-Saïd S, Goureau O, Sahel JA, Zeitz C, Audo I.
Am J Hum Genet. 2014 Apr 3;94(4):625-33. doi: 10.1016/j.ajhg.2014.03.005. Epub 2014 Mar 27.Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB).
Neuillé M, El Shamieh S, Orhan E, Michiels C, Antonio A, Lancelot ME, Condroyer C, Bujakowska K, Poch O, Sahel JA, Audo I, Zeitz C.
PLoS One. 2014 Mar 5;9(3):e90342. doi: 10.1371/journal.pone.0090342. eCollection 2014.Functional and high resolution retinal imaging assessment in a case of ocular siderosis.
Faure C, Gocho K, Le Mer Y, Sahel JA, Paques M, Audo I.
Doc Ophthalmol. 2014 Feb;128(1):69-75. doi: 10.1007/s10633-013-9421-y. Epub 2013 Dec 13.Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
Michalakis S, Shaltiel L, Sothilingam V, Koch S, Schludi V, Krause S, Zeitz C, Audo I, Lancelot ME, Hamel C, Meunier I, Preis -
2013
Audo I, Bujakowska K, Orhan E, El Shamieh S, Sennlaub F, Guillonneau X, Antonio A, Michiels C, Lancelot ME, Letexier M, Saraiva JP, Nguyen H, Luu TD, Léveillard T, Poch O, Dollfus H, Paques M, Goureau O, Mohand-Saïd S, Bhattacharya SS, Sahel JA, Zeitz C.
The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal
dystrophy in a large family.
Hum Mol Genet. 2013 Sep 22.
Manes G, Meunier I, Avila-Fernández A, Banfi S, Le Meur G, Zanlonghi X, Corton M, Simonelli F, Brabet P, Labesse G, Audo I, Mohand-Said S, Zeitz C, Sahel JA, Weber M, Dollfus H, Dhaenens CM, Allorge D, De Baere E, Koenekoop RK, Kohl S, Cremers FP, Hollyfield JG, Sénéchal A, Hebrard M, Bocquet B, García CA, Hamel CP.
Mutations in IMPG1 Cause Vitelliform Macular Dystrophies. Am J Hum Genet. 2013 Sep 5;93(3):571-8.Doumanov JA, Zeitz C, Dominguez Gimenez P, Audo I, Krishna A, Alfano G, Diaz ML, Moskova-Doumanova V, Lancelot ME, Sahel JA, Nandrot EF, Bhattacharya SS.
Diseasecausing mutations in BEST1 gene are associated with altered sorting of bestrophin-1 protein.
Int J Mol Sci. 2013 Jul 22;14(7):15121-40.Lustremant C, Habeler W, Plancheron A, Goureau O, Grenot L, de la Grange P, Audo I, Nandrot EF, Monville C.
Human induced pluripotent stem cells as a tool to model a form of leber congenital amaurosis.
Cell Reprogram. 2013 Jun;15(3):233-46.Rothschild PR, Audo I, Nedelec B, Ghiotti T, Brézin AP, Monin C, Valleix S.
De novo splice mutation in the versican gene in a family with Wagner syndrome.
JAMA Ophthalmol. 2013 Jun;131(6):805-7.Fritsche LG, Chen W, Schu M, Yaspan BL, Yu Y, Thorleifsson G, Zack DJ, Arakawa S, Cipriani V, Ripke S, Igo RP Jr, Buitendijk GH, Sim X, Weeks DE, Guymer RH, Merriam JE,Francis PJ, Hannum G, Agarwal A, Armbrecht AM, Audo I, Aung T, Barile GR, Benchaboune M, Bird AC, Bishop PN, Branham KE, Brooks M, Brucker AJ, Cade WH, Cain MS, Campochiaro PA, Chan CC, Cheng CY, Chew EY, Chin KA, Chowers I, Clayton DG, Cojocaru R, Conley YP, Cornes BK, Daly MJ, Dhillon B, Edwards AO, Evangelou E, Fagerness J, Ferreyra HA, Friedman JS, Geirsdottir A, George RJ, Gieger C, Gupta N, Hagstrom SA, Harding SP, Haritoglou C, Heckenlively JR, Holz FG, Hughes G, Ioannidis JP, Ishibashi T, Joseph P, Jun G, Kamatani Y, Katsanis N, N Keilhauer C, Khan JC, Kim IK, Kiyohara Y, Klein BE, Klein R, Kovach JL, Kozak I, Lee CJ, Lee KE, Lichtner P, Lotery AJ, Meitinger T, Mitchell P, Mohand-Saïd S, Moore AT, Morgan DJ, Morrison MA, Myers CE, Naj AC, Nakamura Y, Okada Y, Orlin A, Ortube MC, Othman MI, Pappas C, Park KH, Pauer GJ, Peachey NS, Poch O, Priya RR, Reynolds R, Richardson AJ, Ripp R, Rudolph G, Ryu E, Sahel JA, Schaumberg DA, Scholl HP, Schwartz SG, Scott WK, Shahid H, Sigurdsson H, Silvestri G, Sivakumaran TA, Smith RT, Sobrin L, Souied EH, Stambolian DE, Stefansson H, Sturgill-Short GM, Takahashi A, Tosakulwong N, Truitt BJ, Tsironi EE, Uitterlinden AG, van Duijn CM, Vijaya L, Vingerling JR, Vithana EN, Webster AR, Wichmann HE, Winkler TW, Wong TY, Wright AF, Zelenika D, Zhang M, Zhao L, Zhang K, Klein ML, Hageman GS, Lathrop GM, Stefansson K, Allikmets R, Baird PN, Gorin MB, Wang JJ, Klaver CC, Seddon JM, Pericak-Vance MA, Iyengar SK, Yates JR, Swaroop A, Weber BH, Kubo M, Deangelis MM, Léveillard T, Thorsteinsdottir U, Haines JL, Farrer LA, Heid IM, Abecasis GR; AMD
Gene Consortium. Seven new loci associated with age-related macular degeneration. Nat
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Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.
Ophthalmic Epidemiol. 2013;20(1):13-25.Vaidla K, Uksti J, Zeitz C, Oitmaa E.
Arrayed primer extension microarray for the analysis of genes associated with congenital stationary night blindness.
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Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
Am J Hum Genet. 2013 Jan 10;92(1):67-75.Liang F, Audo I, Sahel JA, Paques M.
Retinal degeneration in mucopolysaccharidose type II.
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2012
Audo I, Bujakowska K, Orhan E, Poloschek CM, Defoort-Dhellemmes S, Drumare I, Kohl S, Luu TD, Lecompte O, Zrenner E, Lancelot ME, Antonio A, Germain A, Michiels C, Audier C, Letexier M, Saraiva JP, Leroy BP, Munier FL, Mohand-Saïd S, Lorenz B, Friedburg C, Preising M, Kellner U, Renner AB, Moskova-Doumanova V, Berger W, Wissinger B, Hamel CP, Schorderet DF, De Baere E, Sharon D, Banin E, Jacobson SG, Bonneau D, Zanlonghi X, Le Meur G, Casteels I, Koenekoop R, Long VW, Meire F, Prescott K, de Ravel T, Simmons I, Nguyen H, Dollfus H, Poch O, Léveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet. 2012 Feb 10;90(2):321-30.
Audo I, Bujakowska KM, Leveillard T, Mohand-Said S, Lancelot ME, Germain A, Antonio A, Michiels C, Saraiva JP, Letexier M, Sahel JA, Bhattacharya SS, Zeitz C. Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases. Orphanet J Rare Dis. 2012 Jan 25;7(1):8. [Epub ahead of print]
Bujakowska K, Audo I, Mohand-Saïd S, Lancelot ME, Antonio A, Germain A, Léveillard T, Letexier M, Saraiva JP, Lonjou C, Carpentier W, Sahel JA, Bhattacharya SS, Zeitz C. CRB1 mutations in inherited retinal dystrophies. Hum Mutat. 2012 Feb;33(2):306-15. doi: 10.1002/humu.21653. Epub 2011 Dec 27.
Audo I, Mohand-Saïd S, Dhaenens CM, Germain A, Orhan E, Antonio A, Hamel C, Sahel JA, Bhattacharya SS, Zeitz C. RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation. Hum Mutat. 2012 Jan;33(1):73-80. doi: 10.1002/humu.21640. Epub 2011 Dec 1.
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2011
Audo I, Bujakowska K, Mohand-Saïd S, Tronche S, Lancelot ME, Antonio A, Germain A, Lonjou C, Carpentier W, Sahel JA, Bhattacharya S, Zeitz C. A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family. Mol Vis. 2011;17:1598-606.
Pieras JI, Barragán I, Borrego S, Audo I, González-Del Pozo M, Bernal S, Baiget M, Zeitz C, Bhattacharya SS, Antiñolo G. Copy-Number Variations in EYS. A significant event in the appearance of arRP. Invest Ophthalmol Vis Sci. 2011 Apr 25. [Epub ahead of print]
Lecleire-Collet A, Audo I, Aout M, Girmens JF, Sofroni R, Erginay A, Le Gargasson JF, Mohand-Saïd S, Meas T, Guillausseau PJ, Vicaut E, Paques M, Massin P. Evaluation of retinal function and flicker light-induced retinal vascular response in normotensive patients with diabetes without retinopathy.Invest Ophthalmol Vis Sci. 2011 Jan 31. [Epub ahead of print]
Audo I, El Sanharawi M, Vignal-Clermont C, Villa A, Morin A, Conrath J, Fompeydie D, Sahel JA, Gocho-Nakashima K, Goureau O, Paques M.Foveal Damage in Habitual Poppers Users.
Audo I, Lancelot ME, Mohand-Saïd S, Antonio A, Germain A, Sahel JA, Bhattacharya SS, Zeitz C. Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort. Hum Mutat. 2011 Apr;32(4):E2091-103.
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