Joint Papers

Am J Hum Genet. 2024 Mar 19:S0002-9297(24)00074-0. doi: 10.1016/j.ajhg.2024.03.001. PMID: 38531366

Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367. PMID: 38540785

Curr Issues Mol Biol. 2024 Mar 18;46(3):2566-2575. doi: 10.3390/cimb46030163. PMID: 38534779

Mol Ther. 2024 Mar 6;32(3):837-851. doi: 10.1016/j.ymthe.2024.01.019. Epub 2024 Jan 18. PMID: 38243599

Nat Commun. 2024 Feb 21;15(1):1600. doi: 10.1038/s41467-024-45381-1. PMID: 38383453

Genome Med. 2024 Jan 6;16(1):7. doi: 10.1186/s13073-023-01277-1. PMID: 38184646

JCI Insight. 2023 Nov 8;8(21):e169426. doi: 10.1172/jci.insight.169426. PMID: 37768732

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.

HGG Adv. 2023 Sep 12:100237. doi: 10.1016/j.xhgg.2023.100237. PMID: 377052462

Comparison of Worldwide Disease Prevalence and Genetic Prevalence of Inherited Retinal Diseases and Variant Interpretation Considerations

Cold Spring Harb Perspect Med. 2023 Jul 17:a041277. doi: 10.1101/cshperspect.a041277. PMID: 374601553  

Sci Rep. 2023 Jun 9;13(1):9380. doi: 10.1038/s41598-023-35889-9. PMID: 37296172

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.

Panneman DM, Hitti-Malin RJ, Holtes LK, de Bruijn SE, Reurink J, Boonen EGM, Khan MI, Ali M, Andréasson S, De Baere E, Banfi S, Bauwens M, Ben-Yosef T, Bocquet B, De Bruyne M, de la Cerda B, Coppieters F, Farinelli P, Guignard T, Inglehearn CF, Karali M, Kjellström U, Koenekoop R, de Koning B, Leroy BP, McKibbin M, Meunier I, Nikopoulos K, Nishiguchi KM, Poulter JA, Rivolta C, Rodríguez de la Rúa E, Saunders P, Simonelli F, Tatour Y, Testa F, Thiadens AAHJ, Toomes C, Tracewska AM, Tran HV, Ushida H, Vaclavik V, Verhoeven VJM, van de Vorst M, Gilissen C, Hoischen A, Cremers FPM, Roosing S

Proc Natl Acad Sci U S A. 2022 Jul 5;119(27):e2115538119. doi: 10.1073/pnas.2115538119. Epub 2022 Jun 27. PMID: 35759666

Int J Mol Sci. 2022 Jun 20;23(12):6868. doi: 10.3390/ijms23126868. PMID: 35743313

Mol Vis. 2022 Feb 22;28:21-28. eCollection 2022. PMID: 35400991

Cornelis SS, Runhart EH, Bauwens M, Corradi Z, De Baere E, Roosing S, Haer-Wigman L, Dhaenens CM, Vulto-van Silfhout AT, Cremers FPM.

Grudzinska Pechhacker MK, Jacobson SG, Drack AV, Scipio MD, Strubbe I, Pfeifer W, Duncan JL, Dollfus H, Goetz N, Muller J, Vincent AL, Aleman TS, Tumber A, Van Cauwenbergh C, De Baere E, Bedoukian E, Leroy BP, Maynes JT, Munier FL, Tavares E, Saleh E, Vincent A, Heon E.

NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases

Retinal Degeneration Associated With RPGRIP1: A Review of Natural History, Mutation Spectrum, and Genotype-Phenotype Correlation in 228 Patients.

Front Cell Dev Biol. 2021 Oct 14;9:746781

A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients.

Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss.

Ascari G, Rendtorff ND, De Bruyne M, De Zaeytijd J, Van Lint M, Bauwens M, Van Heetvelde M, Arno G, Jacob J, Creytens D, Van Dorpe J, Van Laethem T, Rosseel T, De Pooter T, De Rijk P, De Coster W, Menten B, Rey AD, Strazisar M, Bertelsen M, Tranebjaerg L, De Baere E.

Front Cell Dev Biol. 2021 Apr 21;9:664317.

The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.

Black GC, Sergouniotis P, Sodi A, Leroy BP, Van Cauwenbergh C, Liskova P, Grønskov K, Klett A, Kohl S, Taurina G, Sukys M, Haer-Wigman L, Nowomiejska K, Marques JP, Leroux D, Cremers FPM, De Baere E, Dollfus H; ERN-EYE study group.

Heterozygous deletions of noncoding parts of the PRPF31 gene cause retinitis pigmentosa via reduced gene expression.

Mol Vis. 2021 Mar 18;27:107-116

Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.

New variants and in silico analyses in GRK1 associated Oguchi disease.

Poulter JA, Gravett MSC, Taylor RL, Fujinami K, De Zaeytijd J, Bellingham J, Rehman AU, Hayashi T, Kondo M, Rehman A, Ansar M, Donnelly D, Toomes C, Ali M; UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, De Baere E, Leroy BP, Davies NP, Henderson RH, Webster AR, Rivolta C, Zeitz C, Mahroo OA, Arno G, Black GCM, McKibbin M, Harris SA, Khan KN, Inglehearn CF.

SENIOR-LØKEN SYNDROME: A Case Series and Review of the Renoretinal Phenotype and Advances of Molecular Diagnosis.

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.

Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.

JAMA Ophthalmol. 2020 Dec 1;138(12):1241-1250.

DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.

Genet Med. 2020 Dec;22(12):2041-2051.

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa.

Genotype-Phenotype Correlations in a Spanish Cohort of 506 Families With Biallelic ABCA4 Pathogenic Variants.

Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Unique combination of clinical features in a large cohort of 100 patients with retinitis pigmentosa caused by FAM161A mutations.

Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.

Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.

Khan M, Cornelis SS, Pozo-Valero MD, Whelan L, Runhart EH, Mishra K, Bults F, AlSwaiti Y, AlTalbishi A, De Baere E, Banfi S, Banin E, Bauwens M, Ben-Yosef T, Boon CJF, van den Born LI, Defoort S, Devos A, Dockery A, Dudakova L, Fakin A, Farrar GJ, Sallum JMF, Fujinami K, Gilissen C, Glavač D, Gorin MB, Greenberg J, Hayashi T, Hettinga YM, Hoischen A, Hoyng CB, Hufendiek K, Jägle H, Kamakari S, Karali M, Kellner U, Klaver CCW, Kousal B, Lamey TM, MacDonald IM, Matynia A, McLaren TL, Mena MD, Meunier I, Miller R, Newman H, Ntozini B, Oldak M, Pieterse M, Podhajcer OL, Puech B, Ramesar R, Rüther K, Salameh M, Salles MV, Sharon D, Simonelli F, Spital G, Steehouwer M, Szaflik JP, Thompson JA, Thuillier C, Tracewska AM, van Zweeden M, Vincent AL, Zanlonghi X, Liskova P, Stöhr H, Roach JN, Ayuso C, Roberts L, Weber BHF, Dhaenens CM, Cremers FPM.

Modeling and Rescue of RP2 Retinitis Pigmentosa Using iPSC-Derived Retinal Organoids.

Stem Cell Reports. 2020 Jul 14;15(1):67-79.

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium.

Transl Vis Sci Technol. 2020 Jun 3;9(7):2

Mapping the cis-regulatory architecture of the human retina reveals noncoding genetic variation in disease.

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.

Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F.

Hum Mutat. 2020 May;41(5):998-1011

Advanced late-onset retinitis pigmentosa with dominant-acting D477G RPE65 mutation is responsive to oral synthetic retinoid therapy.

BMJ Open Ophthalmol. 2020 May 5;5(1):e000462

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.

Bauwens M, Storch S, Weisschuh N, Ceuterick-de Groote C, De Rycke R, Guillemyn B, De Jaegere S, Coppieters F, Van Coster R, Leroy BP, De Baere E.

Clin Genet. 2020 Mar;97(3):426-436

Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.

Mol Vis. 2020 Mar 18;26:216-225.

GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies.

Am J Ophthalmol. 2020 Feb;210:59-70.

The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56.

Almoallem B, Arno G, De Zaeytijd J, Verdin H, Balikova I, Casteels I, de Ravel T, Hull S, Suzani M, Destrée A, Peng M, Williams D, Ainsworth JR, Webster AR, Leroy BP, Moore AT, De Baere E.

Sci Rep. 2020 Jan 28;10(1):1289

Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population

Hanany M, Allon G, Kimchi A, Blumenfeld A, Newman H, Pras E, Wormser O, S Birk O, Gradstein L, Banin E, Ben-Yosef T, Sharon D

Eur J Hum Genet. 2018 Aug;26(8):1159-1166

Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.

Kimchi A, Khateb S, Wen R, Guan Z, Obolensky A, Beryozkin A, Kurtzman S, Blumenfeld A, Pras E, Jacobson SG, Ben-Yosef T, Newman H, Sharon D, Banin E

Ophthalmology. 2018 May;125(5):725-734

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes

Astuti GDN, van den Born LI, Khan MI, Hamel CP, Bocquet B, Manes G, Quinodoz M, Ali M, Toomes C, McKibbin M, El-Asrag ME, Haer-Wigman L, Inglehearn CF, Black GCM, Hoyng CB, Cremers FPM, Roosing S.

Genes (Basel). 2018 Jan 10;9(1).

A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans

 Khateb S, Kowalewski B, Bedoni N, Damme M, Pollack N, Saada A, Obolensky A, Ben-Yosef T, Gross M, Dierks T, Banin E, Rivolta C,, Sharon D.

 Genet Med. 2018 Jan 4.

An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.

Tracewska-Siemiątkowska A, Haer-Wigman L, Bosch DGM, Nickerson D, Bamshad MJ; University of Washington Center for Mendelian Genomics, van de Vorst M, Rendtorff ND, Möller C, Kjellström U, Andréasson S, Cremers FPM, Tranebjærg L

Genes (Basel). 2017 Dec 11;8(12)

USH2A Gene Editing Using the CRISPR System. 

Fuster-García C, García-García G, González-Romero E, Jaijo T, Sequedo MD, Ayuso C, Vázquez-Manrique RP, Millán JM, Aller E

Mol Ther Nucleic Acids. 2017 Sep 15;8:529-541

Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.

Tatour Y, Sanchez-Navarro I, Chervinsky E, Hakonarson H, Gawi H, Tahsin-Swafiri S, Leibu R, Lopez-Molina MI, Fernandez-Sanz G, Ayuso C, Ben-Yosef T.J 

Med Genet. 2017 Aug 9. pii: jmedgenet-2017-104632.

Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.

Panagiotou ES, Sanjurjo Soriano C, Poulter JA, Lord EC, Dzulova D, Kondo H, Hiyoshi A, Chung BH, Chu YW, Lai CHY, Tafoya ME, Karjosukarso D, Collin RWJ, Topping J, Downey LM, Ali M, Inglehearn CF, Toomes C. 

Am J Hum Genet. 2017 Jun 1;100(6):960-968. 

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, Li H, Lopez-Martinez MA, Azevedo LF, Hubert L, Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M, Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschké P, Cheetham ME, Lyonnet S, Agrawal SA, Li H, Pinton G, Michaelides M, Besmond C, Li Y, Yuan Z, von Lintig J, Webster AR, Le Hir H, Stoilov P; UK Inherited Retinal Dystrophy Consortium, Amiel J, Hardcastle AJ, Ayuso C, Sui R, Chen R, Allikmets R, Schorderet DF. 

Am J Hum Genet. 2017 Apr 6;100(4):592-604.

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss

Namburi P, Ratnapriya R, Khateb S, Lazar CH, Kinarty Y, Obolensky A, Erdinest I, Marks-Ohana D, Pras E, Ben-Yosef T, Newman H, Gross M, Swaroop A, Banin E, Sharon D.

Am J Hum Genet. 2016 Nov 3;99(5):1222-1223

CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.

Mayer AK, Van Cauwenbergh C, Rother C, Baumann B, Reuter P, De Baere E, Wissinger B, Kohl S; ACHM Study Group. 

Hum Mutat. 2017 Aug 10

The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.

Zobor D, Werner A, Stanzial F, Benedicenti F, Rudolph G, Kellner U, Hamel C, Andréasson S, Zobor G, Strasser T, Wissinger B, Kohl S, Zrenner E; RD-CURE Consortium.

Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):821-832.

Whole-exome sequencing identifies biallelic IDH3A variants as a cause of retinitis pigmentosa accompanied by pseudocoloboma.

*Pierrache, L. H. M., *Kimchi, A., *Ratnapriya, R., *Roberts, L., Astuti, G. D. N., Obolensky, A., Beryozkin, A., Tjon-Fo-Sang, M. J. H., Schuil, J., Klaver, C. C. W., Bongers, E. M. H. F., Haer-Wigman, L., Schalij, N., Breuning, M. H., Fischer, G. M., Banin, E., **Ramesar, R. S., **Swaroop, A., **van den Born, L. I., **Sharon, D., **Cremers, F. P. M. (*Shared first; **shared senior authors)

(2017) Ophthalmology. 124:992-1003

Spectrum of PEX1 and PEX6 variants in Heimler syndrome.

Smith CE, Poulter JA, Levin AV, Capasso JE, Price S, Ben-Yosef T, Sharony R, Newman WG, Shore RC, Brookes SJ, Mighell AJ, Inglehearn CF.

Eur J Hum Genet. 2016 Nov;24(11):1565-1571

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.

Sanchez-Alcudia R, Garcia-Hoyos M, Lopez-Martinez MA, Sanchez-Bolivar N, Zurita O, Gimenez A, Villaverde C, Rodrigues-Jacy da Silva L, Corton M, Perez-Carro R, Torriano S, Kalatzis V, Rivolta C, Avila-Fernandez A, Lorda I, Trujillo-Tiebas MJ, Garcia-Sandoval B, Lopez-Molina MI, Blanco-Kelly F, Riveiro-Alvarez R, Ayuso C. 

PLoS One. 2016 Apr 12;11(4):e0151943

Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases.

Blanco-Kelly F, García Hoyos M, Lopez Martinez MA, Lopez-Molina MI, Riveiro-Alvarez R, Fernandez-San Jose P, Avila-Fernandez A, Corton M, Millan JM, García Sandoval B, Ayuso C.

PLoS One. 2016 Feb 24;11(2):e0149473

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.

Vincent A, Audo I, Tavares E, 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):1011-1019. 

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

Weisschuh N, Mayer AK, Strom TM, Kohl S, Glöckle N, Schubach M, Andreasson S, Bernd A, Birch DG, Hamel CP, Heckenlively JR, Jacobson SG, Kamme C, Kellner U, Kunstmann E, Maffei P, Reiff CM, Rohrschneider K, Rosenberg T, Rudolph G, Vámos R, Varsányi B, Weleber RG, Wissinger B. 

PLoS One. 2016 Jan 14;11(1):e0145951.

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 Dec;24(12):1730-1738.

OR2W3 sequence variants are unlikely to cause inherited retinal diseases.

Sharon D, Kimchi A, Rivolta C. 

Ophthalmic Genet. 2016 Dec;37(4):366-368

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.

Buena-Atienza E, Rüther K, Baumann B, Bergholz R, Birch D, De Baere E, Dollfus H, Greally MT, Gustavsson P, Hamel CP, Heckenlively JR, Leroy BP, Plomp AS, Pott JW, Rose K, Rosenberg T, Stark Z, Verheij JB, Weleber R, Zobor D, Weisschuh N, Kohl S, Wissinger B.

Sci Rep. 2016 Jun 24;6:28253. 

Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data

Khateb S, Hanany M, Khalaileh A, Beryozkin A, Meyer S, Abu-Diab A, Abu Turky F, Mizrahi-Meissonnier L, Lieberman S, Ben-Yosef T, Banin E, Sharon D.

J Med Genet. 2016 Sep;53(9):600-7.

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. 

Vincent A, Audo I, Tavares E, 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. 

J Hum Genet. 2016 May 5;98(5):1011-1019. 

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa

Xu M, Yamada T, Sun Z, Eblimit A, Lopez I, Wang F, Manya H, Xu S, Zhao L, Li Y, Kimchi A, Sharon D, Sui R, Endo T, Koenekoop RK, Chen R.

. Hum Mol Genet. 2016 Apr 15;25(8):1479-88

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.

Coppieters F, Ascari G, Dannhausen K, Nikopoulos K, Peelman F, Karlstetter M, Xu M, Brachet C, Meunier I, Tsilimbaris MK, Tsika C, Blazaki SV, Vergult S, Farinelli P, Van Laethem T, Bauwens M, De Bruyne M, Chen R, Langmann T, Sui R, Meire F, Rivolta C, Hamel CP, Leroy BP, De Baere E.

Am J Hum Genet. 2016 Aug 4;99(2):470-80

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

Buena-Atienza E, Rüther K, Baumann B, Bergholz R, Birch D, De Baere E, Dollfus H, Greally MT, Gustavsson P, Hamel CP, Heckenlively JR, Leroy BP, Plomp AS, Pott JW, Rose K, Rosenberg T, Stark Z, Verheij JB, Weleber R, Zobor D, Weisschuh N, Kohl S, Wissinger B. 

Sci Rep. 2016 Jun 24;6:28253

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin. 

Ravesh Z, El Asrag ME, Weisschuh N, McKibbin M, Reuter P, Watson CM, Baumann B, Poulter JA, Sajid S, Panagiotou ES, O'Sullivan J, Abdelhamed Z, Bonin M, Soltanifar M, Black GC, Amin-ud Din M, Toomes C, Ansar M, Inglehearn CF, Wissinger B, Ali M. 

Mol Vis. 2015 Mar 7;21:236-43

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility

Bedoni, N., Haer-Wigman, L., Vaclavik, V., Tran, V. H., Farinelli, P., Balzano, S., Royer-Bertrand, B., El-Asrag, M. E., Bonny, O., Ikonomidis, C., Litzistorf, Y., Nikopoulos, K., Yioti, G. G., Stefaniotou, M. I., McKibbin, M., Booth, A. P., Ellingford, J. M., Black, G. C., Toomes, C., Inglehearn, C. F., Hoyng, C. B., Bax, N., Klaver, C. C., Thiadens, A. A., Murisier, F., Schorderet, D. F., Ali, M., Cremers, F. P. M., Andréasson, S., Munier, F. L., Rivolta, C. 

(2016) Hum. Mol. Genet. 25:4546-55

Mutations in CEP78 cause cone-rod dystrophy and hearing loss associated with primary-cilia defects

Nikopoulos, K., Farinelli, P., Giangreco, B., Tsika, C., Royer-Bertrand, B., Mbefo, M. K., Bedoni, N., Kjellström, U., El Zaoui, I., Di Gioia, S. A., Balzano, S., Cisarova, K., Messina, A., Decembrini, S., Plainis, S., Blazaki, S. V., Khan, M. I., Micheal, S., Boldt, K., Ueffing, M., Moulin, A. P., Cremers, F. P. M., Roepman, R., Arsenijevic, Y., Tsilimbaris, M. K., Andréasson, S., Rivolta, C.

(2016) Am. J. Hum. Genet. 99:770-6. 

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

Saksens, N. T., Krebs, M. P., Schoenmaker-Koller, F. E., Hicks, W., Yu, M., Shi, L., Rowe, L., Collin, G. B., Charette, J. R., Letteboer, S. J., Neveling, K., van Moorsel, T. W., Abu-Ltaif, S., De Baere, E., Walraedt, S., Banfi, S., Simonelli, F., Cremers, F. P. M., Boon, C. J., Roepman, R., Leroy, B. P., Peachey, N. S., Hoyng, C. B., Nishina, P. M., den Hollander, A. I. 

2016) Nat. Genet. 48:144-51.

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.

Avila-Fernandez A, Perez-Carro R, Corton M, Lopez-Molina MI, Campello L, Garanto A, Fernandez-Sanchez L, Duijkers L, Lopez-Martinez MA, Riveiro-Alvarez R, Da Silva LR, Sanchez-Alcudia R, Martin-Garrido E, Reyes N, Garcia-Garcia F, Dopazo J, Garcia-Sandoval B, Collin RW, Cuenca N, Ayuso C.

Hum Mol Genet. 2015 Jul 15;24(14):4037-48

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.

Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA

Nat Cell Biol. 2015 Aug;17(8):1074-1087

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.

Nikopoulos K, Avila-Fernandez A, Corton M, Lopez-Molina MI, Perez-Carro R, Bontadelli L, Di Gioia SA, Zurita O, Garcia-Sandoval B, Rivolta C, Ayuso C. 

Sci Rep. 2015 Sep 9;5:13902.

Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.

Chassine T, Bocquet B, Daien V, Avila-Fernandez A, Ayuso C, Collin RW, Corton M, Hejtmancik JF, van den Born LI, Klevering BJ, Riazuddin SA, Sendon N, Lacroux A, Meunier I, Hamel CP.

Br J Ophthalmol. 2015 Oct;99(10):1360-5.

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population

Coussa RG, Chakarova C, Ajlan R, Taha M, Kavalec C, Gomolin J, Khan A, Lopez I, Ren H, Waseem N, Kamenarova K, Bhattacharya SS, Koenekoop RK. 

Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8297-305

Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy

Zelinger L, Cideciyan AV, Kohl S, Schwartz SB, Rosenmann A, Eli D, Sumaroka A, Roman AJ, Luo X, Brown C, Rosin B, Blumenfeld A, Wissinger B, Jacobson SG, Banin E, Sharon D. 

Ophthalmology. 2015 May;122(5):997-1007

Retinal Development in Infants and Young Children with Achromatopsia.

Lee H, Purohit R, Sheth V, McLean RJ, Kohl S, Leroy BP, Sundaram V, Michaelides M, Proudlock FA, Gottlob I. Ophthalmology.

Ophthalmology. 2015 Oct;122(10):2145-7

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.

Astuti GD, Sun V, Bauwens M, Zobor D, Leroy BP, Omar A, Jurklies B, Lopez I, Ren H, Yazar V, Hamel C, Kellner U, Wissinger B, Kohl S, De Baere E, Collin RW, Koenekoop RK. 

 Mol Genet Genomic Med. 2015 Jan;3(1):14-29

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

Bauwens M, De Zaeytijd J, Weisschuh N, Kohl S, Meire F, Dahan K, Depasse F, De Jaegere S, De Ravel T, De Rademaeker M, Loeys B, Coppieters F, Leroy BP, De Baere E. 

Hum Mutat. 2015 Jan;36(1):39-42. 

MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma

Conte I, Hadfield KD, Barbato S, Carrella S, Pizzo M, Bhat RS, Carissimo A, Karali M, Porter LF, Urquhart J, Hateley S, O'Sullivan J, Manson FD, Neuhauss SC, Banfi S, Black GC

Proc Natl Acad Sci U S A. 2015 Jun 23;112(25):E3236-45.

A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa.

Van Schil K, Klevering BJ, Leroy BP, Pott JW, Bandah-Rozenfeld D, Zonneveld-Vrieling MN, Sharon D, den Hollander AI, Cremers FP, De Baere E, Collin RW, van den Born LI. 

Invest Ophthalmol Vis Sci. 2015 Nov;56(12):7418-26.

Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.

El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA; UK Inherited Retinal Disease Consortium, Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster AR, Toomes C, Ali M. 

Am J Hum Genet. 2015 Jun 4;96(6):948-54

Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.

Shevach E, Ali M, Mizrahi-Meissonnier L, McKibbin M, El-Asrag M, Watson CM, Inglehearn CF, Ben-Yosef T, Blumenfeld A, Jalas C, Banin E, Sharon D.

JAMA Ophthalmol. 2015 Mar;133(3):312-8

Human iPSC derived disease model of MERTK-associated retinitis pigmentosa.

Lukovic D, Artero Castro A, Delgado AB, Bernal Mde L, Luna Pelaez N, Díez Lloret A, Perez Espejo R, Kamenarova K, Fernández Sánchez L, Cuenca N, Cortón M, Avila Fernandez A, Sorkio A, Skottman H, Ayuso C, Erceg S, Bhattacharya SS

Sci Rep. 2015 Aug 11;5:12910

Whole Exome Sequencing Reveals Mutations in Known Retinal Disease Genes in 33 out of 68 Israeli Families with Inherited Retinopathies.

Beryozkin A, Shevah E, Kimchi A, Mizrahi-Meissonnier L, Khateb S, Ratnapriya R, Lazar CH, Blumenfeld A, Ben-Yosef T, Hemo Y, Pe'er J, Averbuch E, Sagi M, Boleda A, Gieser L, Zlotogorski A, Falik-Zaccai T, Alimi-Kasem O, Jacobson SG, Chowers I, Swaroop A, Banin E, Sharon D

Sci Rep. 2015 Aug 26;5:13187

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).

Haer-Wigman, L., *Newman, H., *Leibu, R., *Bax, N. M., Baris, H. N., Rizel, L., Banin, E., Massarweh, A., Roosing, S., Lefeber, D. J., Zonneveld-Vrieling, M. N., Isakov, O., Shomron, N., Sharon, D., den Hollander, A. I., Hoyng, C. B., Cremers, F. P. M., Ben-Yosef, T (*Equal contributions)

(2015) Hum. Mol. Genet. 24, 3742-3751

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

(2015) Nat. Genet. 47, 757-765.

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with non-syndromic autosomal recessive macular dystrophy

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with non-syndromic autosomal recessive macular dystrophy

(2015) Ophthalmology. 122, 170-179.

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).

Haer-Wigman L, Newman H, Leibu R, Bax NM, Baris HN, Rizel L, Banin E, Massarweh A, Roosing S, Lefeber DJ, Zonneveld-Vrieling MN, Isakov O, Shomron N, Sharon D, Den Hollander AI, Hoyng CB, Cremers FP, Ben-Yosef T:

Hum Mol Genet 2015.

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.

Roosing S, van den Born LI, Sangermano R, Banfi S, Koenekoop RK, Zonneveld-Vrieling MN, Klaver CC, van Lith-Verhoeven JJ, Cremers FP, den Hollander AI, Hoyng CB:

Ophthalmology 2015, 122:170-179.

Mutations 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-Said 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, 24:230-242.

Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.

Zelinger L, Cideciyan AV, Kohl S, Schwartz SB, Rosenmann A, Eli D, Sumaroka A, Roman AJ, Luo X, Brown C, Rosin B, Blumenfeld A, Wissinger B, Jacobson SG, Banin E, Sharon D:

Ophthalmology 2015.

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.

Ravesh Z, El Asrag ME, Weisschuh N, McKibbin M, Reuter P, Watson CM, Baumann B, Poulter JA, Sajid S, Panagiotou ES, O'Sullivan J, Abdelhamed Z, Bonin M, Soltanifar M, Black GC, Amin-ud Din M, Toomes C, Ansar M, Inglehearn CF, Wissinger B, Ali M:

Mol Vis 2015, 21:236-243.

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.

Astuti GD, Sun V, Bauwens M, Zobor D, Leroy BP, Omar A, Jurklies B, Lopez I, Ren H, Yazar V, Hamel C, Kellner U, Wissinger B, Kohl S, De Baere E, Collin RW, Koenekoop RK:

Mol Genet Genomic Med 2015, 3:14-29.

An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients.

Bauwens M, De Zaeytijd J, Weisschuh N, Kohl S, Meire F, Dahan K, Depasse F, De Jaegere S, De Ravel T, De Rademaeker M, Loeys B, Coppieters F, Leroy BP, De Baere E:

Hum Mutat 2015, 36:39-42.

Association Between Missense Mutations in the BBS2 Gene and Nonsyndromic Retinitis Pigmentosa.

Shevach E, Ali M, Mizrahi-Meissonnier L, McKibbin M, El-Asrag M, Watson CM, Inglehearn CF, Ben-Yosef T, Blumenfeld A, Jalas C, Banin E, Sharon D:

JAMA Ophthalmol 2015, 133:312-318.

Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.

Di Gioia SA, Farinelli P, Letteboer SJ, Arsenijevic Y, Sharon D, Roepman R, Rivolta C:

Hum Mol Genet 2015.

Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.

Chassine T, Bocquet B, Daien V, Avila-Fernandez A, Ayuso C, Collin RW, Corton M, Hejtmancik JF, van den Born LI, Klevering BJ, Riazuddin SA, Sendon N, Lacroux A, Meunier I, Hamel CP:

Br J Ophthalmol 2015.

Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy.

Gillespie RL, Urquhart J, Lovell SC, Biswas S, Parry NR, Schorderet DF, Lloyd IC, Clayton-Smith J, Black GC:

Invest Ophthalmol Vis Sci 2015, 56:883-891.

Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.

Kmoch S, Majewski J, Ramamurthy V, Cao S, Fahiminiya S, Ren H, MacDonald IM, Lopez I, Sun V, Keser V, Khan A, Stranecky V, Hartmannova H, Pristoupilova A, Hodanova K, Piherova L, Kuchar L, Baxova A, Chen R, Barsottini OG, Pyle A, Griffin H, Splitt M, Sallum J, Tolmie JL, Sampson JR, Chinnery P, Care4Rare C, Banin E, Sharon D, Dutta S, Grebler R, Helfrich-Foerster C, Pedroso JL, Kretzschmar D, Cayouette M, Koenekoop RK:

Nat Commun 2015, 6:5614.

Exome Sequencing Reveals ZNF408 as a New Gene Associated With Autosomal Recessive Retinitis Pigmentosa with Vitreal Alterations.

Avila-Fernandez A, Perez-Carro R, Corton M, Lopez-Molina MI, Campello L, Garanto A, Fernadez-Sanchez L, Duijkers L, Lopez-Martinez MA, Riveiro-Alvarez R, da Silva LR, Sanchez-Alcudia R, Martin-Garrido E, Reyes N, Garcia-Garcia F, Dopazo J, Garcia-Sandoval B, Collin RW, Cuenca N, Ayuso C:

Hum Mol Genet 2015.

Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients.

Blanco-Kelly F, Jaijo T, Aller E, Avila-Fernandez A, Lopez-Molina MI, Gimenez A, Garcia-Sandoval B, Millan JM, Ayuso C:

JAMA Ophthalmol 2015, 133:157-164.

New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.

Riveiro-Alvarez R, Xie YA, Lopez-Martinez MA, Gambin T, Perez-Carro R, Avila-Fernandez A, Lopez-Molina MI, Zernant J, Jhangiani S, Muzny D, Yuan B, Boerwinkle E, Gibbs R, Lupski JR, Ayuso C, Allikmets R:

JAMA Ophthalmol 2015, 133:133-139.

Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.

van Huet RA, Siemiatkowska AM, Ozgul RK, Yucel D, Hoyng CB, Banin E, Blumenfeld A, Rotenstreich Y, Riemslag FC, den Hollander AI, Theelen T, Collin RW, van den Born LI, Klevering BJ:

Acta Ophthalmol 2015, 93:83-94.

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.

Benaglio P, San Jose PF, Avila-Fernandez A, Ascari G, Harper S, Manes G, Ayuso C, Hamel C, Berson EL, Rivolta C:

Mol Vis 2014, 20:843-851.

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

Corton M, Avila-Fernandez A, Vallespin E, Lopez-Molina MI, Almoguera B, Martin-Garrido E, Tatu SD, Khan MI, Blanco-Kelly F, Riveiro-Alvarez R, Brion M, Garcia-Sandoval B, Cremers FP, Carracedo A, Ayuso C:

Ophthalmology 2014, 121:399-407.

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.

Siemiatkowska AM, van den Born LI, van Genderen MM, Bertelsen M, Zobor D, Rohrschneider K, van Huet RA, Nurohmah S, Klevering BJ, Kohl S, Faradz SM, Rosenberg T, den Hollander AI, Collin RW, Cremers FP:

Mol Vis 2014, 20:753-759.

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.

Ajmal M, Khan MI, Neveling K, Khan YM, Azam M, Waheed NK, Hamel CP, Ben-Yosef T, De Baere E, Koenekoop RK, Collin RW, Qamar R, Cremers FP:

J Med Genet 2014, 51:444-448.

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Perez-Carro R, Martin-Garrido E, Lopez-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, Garcia-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, Garcia-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C:

Ophthalmology 2014, 121:1620-1627.

IMPG2-associated retinitis pigmentosa displays relatively early macular involvement.

van Huet RA, Collin RW, Siemiatkowska AM, Klaver CC, Hoyng CB, Simonelli F, Khan MI, Qamar R, Banin E, Cremers FP, Theelen T, den Hollander AI, van den Born LI, Klevering BJ:

Invest Ophthalmol Vis Sci 2014, 55:3939-3953.

Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.

Roosing S, Lamers IJ, de Vrieze E, van den Born LI, Lambertus S, Arts HH, Group PBS, Peters TA, Hoyng CB, Kremer H, Hetterschijt L, Letteboer SJ, van Wijk E, Roepman R, den Hollander AI, Cremers FP:

Am J Hum Genet 2014, 95:131-142.

The progressive rod-cone degeneration (PRCD) protein is secreted through the conventional ER/Golgi-dependent pathway.

Remez L, Zobor D, Kohl S, Ben-Yosef T:

Exp Eye Res 2014, 125:217-225.

A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome.

Khateb S, Zelinger L, Mizrahi-Meissonnier L, Ayuso C, Koenekoop RK, Laxer U, Gross M, Banin E, Sharon D:

J Med Genet 2014, 51:460-469.

Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

Aparisi MJ, Aller E, Fuster-Garcia C, Garcia-Garcia G, Rodrigo R, Vazquez-Manrique RP, Blanco-Kelly F, Ayuso C, Roux AF, Jaijo T, Millan JM:

Orphanet J Rare Dis 2014, 9:168.

Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa.

Garcia-Garcia G, Aller E, Jaijo T, Aparisi MJ, Larrieu L, Faugere V, Blanco-Kelly F, Ayuso C, Roux AF, Millan JM:

Mol Vis 2014, 20:1398-1410.

Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families.

Sanchez-Alcudia R, Corton M, Avila-Fernandez A, Zurita O, Tatu SD, Perez-Carro R, Fernandez-San Jose P, Lopez-Martinez MA, del Castillo FJ, Millan JM, Blanco-Kelly F, Garcia-Sandoval B, Lopez-Molina MI, Riveiro-Alvarez R, Ayuso C:

Invest Ophthalmol Vis Sci 2014, 55:7562-7571.

Analysis of the ABCA4 genomic locus in Stargardt disease.

Zernant J, Xie YA, Ayuso C, Riveiro-Alvarez R, Lopez-Martinez MA, Simonelli F, Testa F, Gorin MB, Strom SP, Bertelsen M, Rosenberg T, Boone PM, Yuan B, Ayyagari R, Nagy PL, Tsang SH, Gouras P, Collison FT, Lupski JR, Fishman GA, Allikmets R:

Hum Mol Genet 2014, 23:6797-6806.

New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.

Xie YA, Lee W, Cai C, Gambin T, Noupuu K, Sujirakul T, Ayuso C, Jhangiani S, Muzny D, Boerwinkle E, Gibbs R, Greenstein VC, Lupski JR, Tsang SH, Allikmets R:

Hum Mol Genet 2014, 23:5774-5780.

Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial.

Koenekoop RK, Sui R, Sallum J, van den Born LI, Ajlan R, Khan A, den Hollander AI, Cremers FP, Mendola JD, Bittner AK, Dagnelie G, Schuchard RA, Saperstein DA:

Lancet 2014, 384:1513-1520.

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

Poulter JA, Al-Araimi M, Conte I, van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, Tan A, Mackey DA, Hewitt AW, Banfi S, Ali M, Inglehearn CF, Toomes C:

Am J Hum Genet 2013, 93:1143-1150.

Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.

Corton M, Nishiguchi KM, Avila-Fernandez A, Nikopoulos K, Riveiro-Alvarez R, Tatu SD, Ayuso C, Rivolta C:

PLoS One 2013, 8:e65574.

Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype.

Zelinger L, Wissinger B, Eli D, Kohl S, Sharon D, Banin E:

Ophthalmology 2013, 120:2338-2343.

Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.

Mackay DS, Borman AD, Sui R, van den Born LI, Berson EL, Ocaka LA, Davidson AE, Heckenlively JR, Branham K, Ren H, Lopez I, Maria M, Azam M, Henkes A, Blokland E, Group LCAS, Andreasson S, de Baere E, Bennett J, Chader GJ, Berger W, Golovleva I, Greenberg J, den Hollander AI, Klaver CC, Klevering BJ, Lorenz B, Preising MN, Ramsear R, Roberts L, Roepman R, Rohrschneider K, Wissinger B, Qamar R, Webster AR, Cremers FP, Moore AT, Koenekoop RK:

Hum Mutat 2013, 34:1537-1546.

Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.

Roosing S, Rohrschneider K, Beryozkin A, Sharon D, Weisschuh N, Staller J, Kohl S, Zelinger L, Peters TA, Neveling K, Strom TM, European Retinal Disease C, van den Born LI, Hoyng CB, Klaver CC, Roepman R, Wissinger B, Banin E, Cremers FP, den Hollander AI:

Am J Hum Genet 2013, 93:110-117.

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.

Collin RW, Nikopoulos K, Dona M, Gilissen C, Hoischen A, Boonstra FN, Poulter JA, Kondo H, Berger W, Toomes C, Tahira T, Mohn LR, Blokland EA, Hetterschijt L, Ali M, Groothuismink JM, Duijkers L, Inglehearn CF, Sollfrank L, Strom TM, Uchio E, van Nouhuys CE, Kremer H, Veltman JA, van Wijk E, Cremers FP:

Proc Natl Acad Sci U S A 2013, 110:9856-9861.

Mutations in IMPG1 cause vitelliform macular dystrophies.

Manes G, Meunier I, Avila-Fernandez 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, Senechal A, Hebrard M, Bocquet B, Ayuso Garcia C, Hamel CP:

Am J Hum Genet 2013, 93:571-578.

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.

Perrault I, Estrada-Cuzcano A, Lopez I, Kohl S, Li S, Testa F, Zekveld-Vroon R, Wang X, Pomares E, Andorf J, Aboussair N, Banfi S, Delphin N, den Hollander AI, Edelson C, Florijn R, Jean-Pierre M, Leowski C, Megarbane A, Villanueva C, Flores B, Munnich A, Ren H, Zobor D, Bergen A, Chen R, Cremers FP, Gonzalez-Duarte R, Koenekoop RK, Simonelli F, Stone E, Wissinger B, Zhang Q, Kaplan J, Rozet JM:

PLoS One 2013, 8:e51622.

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

Roosing S, van den Born LI, Hoyng CB, Thiadens AA, de Baere E, Collin RW, Koenekoop RK, Leroy BP, van Moll-Ramirez N, Venselaar H, Riemslag FC, Cremers FP, Klaver CC, den Hollander AI:

Ophthalmology 2013, 120:1239-1246.

The ADAMTS18 gene is responsible for autosomal recessive early onset severe retinal dystrophy.

Peluso I, Conte I, Testa F, Dharmalingam G, Pizzo M, Collin RW, Meola N, Barbato S, Mutarelli M, Ziviello C, Barbarulo AM, Nigro V, Melone MA, European Retinal Disease C, Simonelli F, Banfi S:

Orphanet J Rare Dis 2013, 8:16.

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.

Nishiguchi KM, Tearle RG, Liu YP, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma TR, Beckmann JS, Ikegawa S, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C:

Proc Natl Acad Sci U S A 2013, 110:16139-16144.

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

Bocquet B, Lacroux A, Surget MO, Baudoin C, Marquette V, Manes G, Hebrard M, Senechal A, Delettre C, Roux AF, Claustres M, Dhaenens CM, Rozet JM, Perrault I, Bonnefont JP, Kaplan J, Dollfus H, Amati-Bonneau P, Bonneau D, Reynier P, Audo I, Zeitz C, Sahel JA, Paquis-Flucklinger V, Calvas P, Arveiler B, Kohl S, Wissinger B, Blanchet C, Meunier I, Hamel CP:

Ophthalmic Epidemiol 2013, 20:13-25.

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.

Zeitz C, Jacobson SG, Hamel CP, Bujakowska K, Neuille M, Orhan E, Zanlonghi X, Lancelot ME, Michiels C, Schwartz SB, Bocquet B, Congenital Stationary Night Blindness C, Antonio A, Audier C, Letexier M, Saraiva JP, Luu TD, Sennlaub F, Nguyen H, Poch O, Dollfus H, Lecompte O, Kohl S, Sahel JA, Bhattacharya SS, Audo I:

Am J Hum Genet 2013, 92:67-75.

Clinical utility gene card for: Achromatopsia - update 2013.

Kohl S, Hamel C:

Eur J Hum Genet 2013, 21.

Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.

Asai-Coakwell M, March L, Dai XH, Duval M, Lopez I, French CR, Famulski J, De Baere E, Francis PJ, Sundaresan P, Sauve Y, Koenekoop RK, Berry FB, Allison WT, Waskiewicz AJ, Lehmann OJ:

Hum Mol Genet 2013, 22:1432-1442.

Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

Riveiro-Alvarez R, Lopez-Martinez MA, Zernant J, Aguirre-Lamban J, Cantalapiedra D, Avila-Fernandez A, Gimenez A, Lopez-Molina MI, Garcia-Sandoval B, Blanco-Kelly F, Corton M, Tatu S, Fernandez-San Jose P, Trujillo-Tiebas MJ, Ramos C, Allikmets R, Ayuso C:

Ophthalmology 2013, 120:2332-2337.

Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.

van Huet RA, Estrada-Cuzcano A, Banin E, Rotenstreich Y, Hipp S, Kohl S, Hoyng CB, den Hollander AI, Collin RW, Klevering BJ:

Invest Ophthalmol Vis Sci 2013, 54:4683-4690.

A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.

Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC, European Retinal Disease C, Lukowski R, den Hollander AI, Cremers FP, De Baere E, Hoyng CB, Wissinger B:

Am J Hum Genet 2012, 91:527-532.

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.

Estrada-Cuzcano A, Neveling K, Kohl S, Banin E, Rotenstreich Y, Sharon D, Falik-Zaccai TC, Hipp S, Roepman R, Wissinger B, Letteboer SJ, Mans DA, Blokland EA, Kwint MP, Gijsen SJ, van Huet RA, Collin RW, Scheffer H, Veltman JA, Zrenner E, European Retinal Disease C, den Hollander AI, Klevering BJ, Cremers FP:

Am J Hum Genet 2012, 90:102-109.

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

Estrada-Cuzcano A, Koenekoop RK, Senechal A, De Baere EB, de Ravel T, Banfi S, Kohl S, Ayuso C, Sharon D, Hoyng CB, Hamel CP, Leroy BP, Ziviello C, Lopez I, Bazinet A, Wissinger B, Sliesoraityte I, Avila-Fernandez A, Littink KW, Vingolo EM, Signorini S, Banin E, Mizrahi-Meissonnier L, Zrenner E, Kellner U, Collin RW, den Hollander AI, Cremers FP, Klevering BJ:

Arch Ophthalmol 2012, 130:1425-1432.

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

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-Said 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, Leveillard T, Nguyen-Ba-Charvet K, Sahel JA, Bhattacharya SS, Zeitz C:

Am J Hum Genet 2012, 90:321-330.

Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis.

Avila-Fernandez A, Corton M, Nishiguchi KM, Munoz-Sanz N, Benavides-Mori B, Blanco-Kelly F, Riveiro-Alvarez R, Garcia-Sandoval B, Rivolta C, Ayuso C:

Ophthalmology 2012, 119:2616-2621.

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.

Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC, Writing Committee for the Cone Disorders Study Group C, Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ:

Ophthalmology 2012, 119:819-826.

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.

Yzer S, Hollander AI, Lopez I, Pott JW, de Faber JT, Cremers FP, Koenekoop RK, van den Born LI:

Mol Vis 2012, 18:412-425.

Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.

Burke TR, Fishman GA, Zernant J, Schubert C, Tsang SH, Smith RT, Ayyagari R, Koenekoop RK, Umfress A, Ciccarelli ML, Baldi A, Iannaccone A, Cremers FP, Klaver CC, Allikmets R:

Invest Ophthalmol Vis Sci 2012, 53:4458-4467.

Exome sequencing identifies a founder frameshift mutation in an alternative exon of USH1C as the cause of autosomal recessive retinitis pigmentosa with late-onset hearing loss.

Khateb S, Zelinger L, Ben-Yosef T, Merin S, Crystal-Shalit O, Gross M, Banin E, Sharon D:

PLoS One 2012, 7:e51566.

FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.

Di Gioia SA, Letteboer SJ, Kostic C, Bandah-Rozenfeld D, Hetterschijt L, Sharon D, Arsenijevic Y, Roepman R, Rivolta C:

Hum Mol Genet 2012, 21:5174-5184.

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.

Vache C, Besnard T, le Berre P, Garcia-Garcia G, Baux D, Larrieu L, Abadie C, Blanchet C, Bolz HJ, Millan J, Hamel C, Malcolm S, Claustres M, Roux AF:

Hum Mutat 2012, 33:104-108.

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.

Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M, Finding of Rare Disease Genes Canada C, Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R:

Nat Genet 2012, 44:1035-1039.

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

Ramsden SC, Davidson AE, Leroy BP, Moore AT, Webster AR, Black GC, Manson FD:

Eur J Hum Genet 2012, 20.

Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.

Rachel RA, May-Simera HL, Veleri S, Gotoh N, Choi BY, Murga-Zamalloa C, McIntyre JC, Marek J, Lopez I, Hackett AN, Zhang J, Brooks M, den Hollander AI, Beales PL, Li T, Jacobson SG, Sood R, Martens JR, Liu P, Friedman TB, Khanna H, Koenekoop RK, Kelley MW, Swaroop A:

J Clin Invest 2012, 122:1233-1245.

Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3.

Garcia-Garcia G, Aparisi MJ, Rodrigo R, Sequedo MD, Espinos C, Rosell J, Olea JL, Mendivil MP, Ramos-Arroyo MA, Ayuso C, Jaijo T, Aller E, Millan JM:

Mol Vis 2012, 18:3070-3078.

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.

Wissinger B, Schaich S, Baumann B, Bonin M, Jagle H, Friedburg C, Varsanyi B, Hoyng CB, Dollfus H, Heckenlively JR, Rosenberg T, Rudolph G, Kellner U, Salati R, Plomp A, De Baere E, Andrassi-Darida M, Sauer A, Wolf C, Zobor D, Bernd A, Leroy BP, Enyedi P, Cremers FP, Lorenz B, Zrenner E, Kohl S:

Hum Mutat 2011, 32:1398-1406.

IQCB1 mutations in patients with leber congenital amaurosis.

Estrada-Cuzcano A, Koenekoop RK, Coppieters F, Kohl S, Lopez I, Collin RW, De Baere EB, Roeleveld D, Marek J, Bernd A, Rohrschneider K, van den Born LI, Meire F, Maumenee IH, Jacobson SG, Hoyng CB, Zrenner E, Cremers FP, den Hollander AI:

Invest Ophthalmol Vis Sci 2011, 52:834-839.

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

Ozgul RK, Siemiatkowska AM, Yucel D, Myers CA, Collin RW, Zonneveld MN, Beryozkin A, Banin E, Hoyng CB, van den Born LI, European Retinal Disease C, Bose R, Shen W, Sharon D, Cremers FP, Klevering BJ, den Hollander AI, Corbo JC:

Am J Hum Genet 2011, 89:253-264.

Late onset retinitis pigmentosa.

Avila-Fernandez A, Corton M, Lopez-Molina MI, Martin-Garrido E, Cantalapiedra D, Fernandez-Sanchez R, Blanco-Kelly F, Riveiro-Alvarez R, Tatu SD, Trujillo-Tiebas MJ, Garcia-Sandoval B, Ayuso C, Cremers FP:

Ophthalmology 2011, 118:2523-2524.

A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews.

Zelinger L, Banin E, Obolensky A, Mizrahi-Meissonnier L, Beryozkin A, Bandah-Rozenfeld D, Frenkel S, Ben-Yosef T, Merin S, Schwartz SB, Cideciyan AV, Jacobson SG, Sharon D:

Am J Hum Genet 2011, 88:207-215.

Clinical utility gene card for: achromatopsia.

Kohl S, Hamel CP:

Eur J Hum Genet 2011, 19.

Clinical utility gene card for: blue cone monochromatism.

Kohl S, Hamel CP:

Eur J Hum Genet 2011, 19.

A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa.

Tanackovic G, Ransijn A, Ayuso C, Harper S, Berson EL, Rivolta C:

Am J Hum Genet 2011, 88:643-649.

Childhood-onset autosomal recessive bestrophinopathy.

Borman AD, Davidson AE, O'Sullivan J, Thompson DA, Robson AG, De Baere E, Black GC, Webster AR, Holder GE, Leroy BP, Manson FD, Moore AT:

Arch Ophthalmol 2011, 129:1088-1093.

Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations.

Garcia-Garcia G, Aparisi MJ, Jaijo T, Rodrigo R, Leon AM, Avila-Fernandez A, Blanco-Kelly F, Bernal S, Navarro R, Diaz-Llopis M, Baiget M, Ayuso C, Millan JM, Aller E:

Orphanet J Rare Dis 2011, 6:65.

An update on the genetics of usher syndrome.

Millan JM, Aller E, Jaijo T, Blanco-Kelly F, Gimenez-Pardo A, Ayuso C:

J Ophthalmol 2011, 2011:417217.

BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

Deveault C, Billingsley G, Duncan JL, Bin J, Theal R, Vincent A, Fieggen KJ, Gerth C, Noordeh N, Traboulsi EI, Fishman GA, Chitayat D, Knueppel T, Millan JM, Munier FL, Kennedy D, Jacobson SG, Innes AM, Mitchell GA, Boycott K, Heon E:

Hum Mutat 2011, 32:610-619.

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

Bandah-Rozenfeld D, Collin RW, Banin E, van den Born LI, Coene KL, Siemiatkowska AM, Zelinger L, Khan MI, Lefeber DJ, Erdinest I, Testa F, Simonelli F, Voesenek K, Blokland EA, Strom TM, Klaver CC, Qamar R, Banfi S, Cremers FP, Sharon D, den Hollander AI:

Am J Hum Genet 2010, 87:199-208.

Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.

Bandah-Rozenfeld D, Littink KW, Ben-Yosef T, Strom TM, Chowers I, Collin RW, den Hollander AI, van den Born LI, Zonneveld MN, Merin S, Banin E, Cremers FP, Sharon D:

Invest Ophthalmol Vis Sci 2010, 51:4387-4394.

An ancient autosomal haplotype bearing a rare achromatopsia-causing founder mutation is shared among Arab Muslims and Oriental Jews.

Zelinger L, Greenberg A, Kohl S, Banin E, Sharon D:

Hum Genet 2010, 128:261-267.

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

Avila-Fernandez A, Cantalapiedra D, Aller E, Vallespin E, Aguirre-Lamban J, Blanco-Kelly F, Corton M, Riveiro-Alvarez R, Allikmets R, Trujillo-Tiebas MJ, Millan JM, Cremers FP, Ayuso C:

Mol Vis 2010, 16:2550-2558.

Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

Nikopoulos K, Venselaar H, Collin RW, Riveiro-Alvarez R, Boonstra FN, Hooymans JM, Mukhopadhyay A, Shears D, van Bers M, de Wijs IJ, van Essen AJ, Sijmons RH, Tilanus MA, van Nouhuys CE, Ayuso C, Hoefsloot LH, Cremers FP:

Hum Mutat 2010, 31:656-666.

Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

Nikopoulos K, Gilissen C, Hoischen A, van Nouhuys CE, Boonstra FN, Blokland EA, Arts P, Wieskamp N, Strom TM, Ayuso C, Tilanus MA, Bouwhuis S, Mukhopadhyay A, Scheffer H, Hoefsloot LH, Veltman JA, Cremers FP, Collin RW:

Am J Hum Genet 2010, 86:240-247.

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.

Louie CM, Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA, Leitges M, Grone HJ, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, Ayuso C, Cremers FP, den Hollander AI, Koenekoop RK, Dallapiccola B, Ghiggeri GM, Hildebrandt F, Valente EM, Williams DS, Gleeson JG:

Nat Genet 2010, 42:175-180.

Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.

Collin RW, Safieh C, Littink KW, Shalev SA, Garzozi HJ, Rizel L, Abbasi AH, Cremers FP, den Hollander AI, Klevering BJ, Ben-Yosef T:

Am J Hum Genet 2010, 86:783-788.

Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.

Bandah-Rozenfeld D, Mizrahi-Meissonnier L, Farhy C, Obolensky A, Chowers I, Pe'er J, Merin S, Ben-Yosef T, Ashery-Padan R, Banin E, Sharon D:

Am J Hum Genet 2010, 87:382-391.

Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel.

Koeppen K, Reuter P, Ladewig T, Kohl S, Baumann B, Jacobson SG, Plomp AS, Hamel CP, Janecke AR, Wissinger B:

Hum Mutat 2010, 31:830-839.

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.

Towns KV, Kipioti A, Long V, McKibbin M, Maubaret C, Vaclavik V, Ehsani P, Springell K, Kamal M, Ramesar RS, Mackey DA, Moore AT, Mukhopadhyay R, Webster AR, Black GC, O'Sullivan J, Bhattacharya SS, Pierce EA, Beggs JD, Inglehearn CF:

Hum Mutat 2010, 31:E1361-1376.

Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.

Nishimura DY, Baye LM, Perveen R, Searby CC, Avila-Fernandez A, Pereiro I, Ayuso C, Valverde D, Bishop PN, Manson FD, Urquhart J, Stone EM, Slusarski DC, Black GC, Sheffield VC:

Am J Hum Genet 2010, 86:686-695.

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, van Reeuwijk J, Letteboer SJ, Sang L, Giles RH, Liu Q, Coene KL, Estrada-Cuzcano A, Collin RW, McLaughlin HM, Held S, Kasanuki JM, Ramaswami G, Conte J, Lopez I, Washburn J, Macdonald J, Hu J, Yamashita Y, Maher ER, Guay-Woodford LM, Neumann HP, Obermuller N, Koenekoop RK, Bergmann C, Bei X, Lewis RA, Katsanis N, Lopes V, Williams DS, Lyons RH, Dang CV, Brito DA, Dias MB, Zhang X, Cavalcoli JD, Nurnberg G, Nurnberg P, Pierce EA, Jackson PK, Antignac C, Saunier S, Roepman R, Dollfus H, Khanna H, Hildebrandt F:

Nat Genet 2010, 42:840-850.

Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.

Walia S, Fishman GA, Jacobson SG, Aleman TS, Koenekoop RK, Traboulsi EI, Weleber RG, Pennesi ME, Heon E, Drack A, Lam BL, Allikmets R, Stone EM:

Ophthalmology 2010, 117:1190-1198.

Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.

Barragan I, Borrego S, Pieras JI, Gonzalez-del Pozo M, Santoyo J, Ayuso C, Baiget M, Millan JM, Mena M, Abd El-Aziz MM, Audo I, Zeitz C, Littink KW, Dopazo J, Bhattacharya SS, Antinolo G:

Hum Mutat 2010, 31:E1772-1800.

Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome.

Aller E, Jaijo T, Garcia-Garcia G, Aparisi MJ, Blesa D, Diaz-Llopis M, Ayuso C, Millan JM:

Invest Ophthalmol Vis Sci 2010, 51:5480-5485.

Retinitis pigmentosa and allied conditions today: a paradigm of translational research.

Ayuso C, Millan JM:

Genome Med 2010, 2:34.

Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

Jaijo T, Aller E, Garcia-Garcia G, Aparisi MJ, Bernal S, Avila-Fernandez A, Barragan I, Baiget M, Ayuso C, Antinolo G, Diaz-Llopis M, Kulm M, Beneyto M, Najera C, Millan JM:

Invest Ophthalmol Vis Sci 2010, 51:1311-1317.

Analysis of candidate genes for macular telangiectasia type 2.

Parmalee NL, Schubert C, Merriam JE, Allikmets K, Bird AC, Gillies MC, Peto T, Figueroa M, Friedlander M, Fruttiger M, Greenwood J, Moss SE, Smith LE, Toomes C, Inglehearn CF, Allikmets R:

Mol Vis 2010, 16:2718-2726.

A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa.

den Hollander AI, McGee TL, Ziviello C, Banfi S, Dryja TP, Gonzalez-Fernandez F, Ghosh D, Berson EL:

Invest Ophthalmol Vis Sci 2009, 50:1864-1872.

Genotyping microarray for CSNB-associated genes.

Zeitz C, Labs S, Lorenz B, Forster U, Uksti J, Kroes HY, De Baere E, Leroy BP, Cremers FP, Wittmer M, van Genderen MM, Sahel JA, Audo I, Poloschek CM, Mohand-Said S, Fleischhauer JC, Huffmeier U, Moskova-Doumanova V, Levin AV, Hamel CP, Leifert D, Munier FL, Schorderet DF, Zrenner E, Friedburg C, Wissinger B, Kohl S, Berger W:

Invest Ophthalmol Vis Sci 2009, 50:5919-5926.

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

Thiadens AA, den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, Collin RW, De Baere E, Koenekoop RK, van Schooneveld MJ, Strom TM, van Lith-Verhoeven JJ, Lotery AJ, van Moll-Ramirez N, Leroy BP, van den Born LI, Hoyng CB, Cremers FP, Klaver CC:

Am J Hum Genet 2009, 85:240-247.

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Said S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Leveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C:

Am J Hum Genet 2009, 85:720-729.

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.

Parry DA, Toomes C, Bida L, Danciger M, Towns KV, McKibbin M, Jacobson SG, Logan CV, Ali M, Bond J, Chance R, Swendeman S, Daniele LL, Springell K, Adams M, Johnson CA, Booth AP, Jafri H, Rashid Y, Banin E, Strom TM, Farber DB, Sharon D, Blobel CP, Pugh EN, Jr., Pierce EA, Inglehearn CF:

Am J Hum Genet 2009, 84:683-691.

Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.

Polok B, Escher P, Ambresin A, Chouery E, Bolay S, Meunier I, Nan F, Hamel C, Munier FL, Thilo B, Megarbane A, Schorderet DF:

Am J Hum Genet 2009, 84:259-265.

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.

Wang H, den Hollander AI, Moayedi Y, Abulimiti A, Li Y, Collin RW, Hoyng CB, Lopez I, Abboud EB, Al-Rajhi AA, Bray M, Lewis RA, Lupski JR, Mardon G, Koenekoop RK, Chen R:

Am J Hum Genet 2009, 84:380-387.

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial.

Maguire AM, High KA, Auricchio A, Wright JF, Pierce EA, Testa F, Mingozzi F, Bennicelli JL, Ying GS, Rossi S, Fulton A, Marshall KA, Banfi S, Chung DC, Morgan JI, Hauck B, Zelenaia O, Zhu X, Raffini L, Coppieters F, De Baere E, Shindler KS, Volpe NJ, Surace EM, Acerra C, Lyubarsky A, Redmond TM, Stone E, Sun J, McDonnell JW, Leroy BP, Simonelli F, Bennett J:

Lancet 2009, 374:1597-1605.

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.

Boon CJ, Klevering BJ, Leroy BP, Hoyng CB, Keunen JE, den Hollander AI:

Prog Retin Eye Res 2009, 28:187-205.

Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.

Escher P, Gouras P, Roduit R, Tiab L, Bolay S, Delarive T, Chen S, Tsai CC, Hayashi M, Zernant J, Merriam JE, Mermod N, Allikmets R, Munier FL, Schorderet DF:

Hum Mutat 2009, 30:342-351.

Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews.

Auslender N, Bandah D, Rizel L, Behar DM, Shohat M, Banin E, Allon-Shalev S, Sharony R, Sharon D, Ben-Yosef T:

Genet Test 2008, 12:289-294.

Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearon IM, De Baere E, Brown PD, Robson AG, Wright GA, Kestelyn P, Holder GE, Webster AR, Manson FD, Black GC:

Am J Hum Genet 2008, 82:19-31.