| Year |
Citation |
Score |
| 2019 |
Valkenburg D, Runhart EH, Bax NM, Liefers B, Lambertus SL, Sánchez CI, Cremers FPM, Hoyng CB. Highly Variable Disease Courses in Siblings with Stargardt Disease. Ophthalmology. PMID 31522899 DOI: 10.1016/j.ophtha.2019.07.010 |
1 |
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| 2019 |
Sharon D, Ben-Yosef T, Goldenberg-Cohen N, Pras E, Gradstein L, Soudry S, Mezer E, Zur D, Abbasi AH, Zeitz C, Cremers FPM, Khan MI, Levy J, Rotenstreich Y, Birk OS, et al. A nation-wide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC). Human Mutation. PMID 31456290 DOI: 10.1002/humu.23903 |
1 |
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| 2019 |
Bax NM, Valkenburg D, Lambertus S, Klevering BJ, Boon CJF, Holz FG, Cremers FPM, Fleckenstein M, Hoyng CB, Lindner M. Foveal Sparing in Central Retinal Dystrophies. Investigative Ophthalmology & Visual Science. 60: 3456-3467. PMID 31398255 DOI: 10.1167/iovs.18-26533 |
1 |
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| 2019 |
Fadaie Z, Khan M, Del Pozo-Valero M, Cornelis SS, Ayuso C, Cremers FPM, Roosing S. Identification of splice defects due to non-canonical splice site or deep-intronic variants in ABCA4. Human Mutation. PMID 31397521 DOI: 10.1002/humu.23890 |
1 |
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| 2019 |
Nikopoulos K, Cisarova K, Quinodoz M, Koskiniemi-Kuendig H, Miyake N, Farinelli P, Rehman AU, Khan MI, Prunotto A, Akiyama M, Kamatani Y, Terao C, Miya F, Ikeda Y, Ueno S, ... ... Cremers FPM, et al. A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. Nature Communications. 10: 2884. PMID 31253780 DOI: 10.1038/s41467-019-10746-4 |
1 |
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| 2019 |
Khan M, Cornelis SS, Khan MI, Elmelik D, Manders E, Bakker S, Derks R, Neveling K, van de Vorst M, Gilissen C, Meunier I, Defoort S, Puech B, Devos A, Schulz HL, ... ... Cremers FPM, et al. Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease. Human Mutation. PMID 31212395 DOI: 10.1002/humu.23787 |
1 |
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| 2019 |
Tornabene P, Trapani I, Minopoli R, Centrulo M, Lupo M, de Simone S, Tiberi P, Dell'Aquila F, Marrocco E, Iodice C, Iuliano A, Gesualdo C, Rossi S, Giaquinto L, Albert S, ... ... Cremers FPM, et al. Intein-mediated protein trans-splicing expands adeno-associated virus transfer capacity in the retina. Science Translational Medicine. 11. PMID 31092694 DOI: 10.1126/scitranslmed.aav4523 |
1 |
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| 2019 |
Verbakel SK, Fadaie Z, Klevering BJ, van Genderen MM, Feenstra I, Cremers FPM, Hoyng CB, Roosing S. The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy. Molecular Genetics & Genomic Medicine. e660. PMID 30950243 DOI: 10.1002/mgg3.660 |
1 |
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| 2019 |
Bax NM, Lambertus S, Cremers FPM, Klevering BJ, Hoyng CB. The absence of fundus abnormalities in Stargardt disease. Graefe's Archive For Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie. PMID 30903310 DOI: 10.1007/s00417-019-04280-8 |
1 |
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| 2019 |
Tayebi N, Akinrinade O, Khan MI, Hejazifar A, Dehghani A, Cremers FPM, Akhlaghi M. Targeted next generation sequencing reveals genetic defects underlying inherited retinal disease in Iranian families. Molecular Vision. 25: 106-117. PMID 30820146 |
1 |
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| 2019 |
Bauwens M, Garanto A, Sangermano R, Naessens S, Weisschuh N, De Zaeytijd J, Khan M, Sadler F, Balikova I, Van Cauwenbergh C, Rosseel T, Bauwens J, De Leeneer K, De Jaegere S, Van Laethem T, ... ... Cremers FPM, et al. ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30670881 DOI: 10.1038/s41436-018-0420-y |
1 |
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| 2019 |
Sangermano R, Garanto A, Khan M, Runhart EH, Bauwens M, Bax NM, van den Born LI, Khan MI, Cornelis SS, Verheij JBGM, Pott JR, Thiadens AAHJ, Klaver CCW, Puech B, Meunier I, ... ... Cremers FPM, et al. Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 30643219 DOI: 10.1038/s41436-018-0414-9 |
1 |
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| 2019 |
Khan M, Fadaie Z, Cornelis SS, Cremers FPM, Roosing S. Identification and Analysis of Genes Associated with Inherited Retinal Diseases. Methods in Molecular Biology (Clifton, N.J.). 1834: 3-27. PMID 30324433 DOI: 10.1007/978-1-4939-8669-9_1 |
1 |
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| 2018 |
Weisschuh N, Feldhaus B, Khan MI, Cremers FPM, Kohl S, Wissinger B, Zobor D. Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis. Plos One. 13: e0205380. PMID 30576320 DOI: 10.1371/journal.pone.0205380 |
1 |
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| 2018 |
Karjosukarso DW, Cremers FPM, van Nouhuys CE, Collin RWJ. Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly. European Journal of Human Genetics : Ejhg. PMID 30181612 DOI: 10.1038/s41431-018-0243-y |
1 |
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| 2018 |
Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, ... ... Cremers FPM, et al. Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. Plos Genetics. 14: e1007504. PMID 30157172 DOI: 10.1371/journal.pgen.1007504 |
1 |
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| 2018 |
de Bruijn SE, Verbakel SK, de Vrieze E, Kremer H, Cremers FPM, Hoyng CB, van den Born LI, Roosing S. Homozygous variants in , encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa. Journal of Medical Genetics. PMID 30120214 DOI: 10.1136/jmedgenet-2018-105364 |
1 |
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| 2018 |
Talib M, van Schooneveld MJ, Van Cauwenbergh C, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, van Genderen MM, De Baere E, Meester-Smoor MA, De Zaeytijd J, Cremers FPM, van den Born LI, Thiadens AA, et al. The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene. Investigative Ophthalmology & Visual Science. 59: 4123-4133. PMID 30105367 DOI: 10.1167/iovs.17-23453 |
1 |
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| 2018 |
Runhart EH, Sangermano R, Cornelis SS, Verheij JBGM, Plomp AS, Boon CJF, Lugtenberg D, Roosing S, Bax NM, Blokland EAW, Jacobs-Camps MHM, van der Velde-Visser SD, Pott JR, Rohrschneider K, Thiadens AAHJ, ... ... Cremers FPM, et al. The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants. Investigative Ophthalmology & Visual Science. 59: 3220-3231. PMID 29971439 DOI: 10.1167/iovs.18-23881 |
1 |
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| 2018 |
Garanto A, van der Velde-Visser SD, Cremers FPM, Collin RWJ. Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia. Advances in Experimental Medicine and Biology. 1074: 83-89. PMID 29721931 DOI: 10.1007/978-3-319-75402-4_11 |
1 |
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| 2018 |
Song JY, Aravand P, Nikonov S, Leo L, Lyubarsky A, Bennicelli JL, Pan J, Wei Z, Shpylchak I, Herrera P, Bennett DJ, Commins N, Maguire AM, Pham J, den Hollander AI, ... Cremers FPM, et al. Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness. Molecular Therapy : the Journal of the American Society of Gene Therapy. PMID 29673930 DOI: 10.1016/j.ymthe.2018.03.015 |
1 |
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| 2018 |
Cremers FPM, Boon CJF, Bujakowska K, Zeitz C. Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models. Genes. 9. PMID 29659558 DOI: 10.3390/genes9040215 |
1 |
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| 2018 |
Talib M, van Schooneveld MJ, Thiadens AA, Fiocco M, Wijnholds J, Florijn RJ, Schalij-Delfos NE, van Genderen MM, Putter H, Cremers FPM, Dagnelie G, Ten Brink JB, Klaver CCW, van den Born LI, Hoyng CB, et al. CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study. Retina (Philadelphia, Pa.). PMID 29528978 DOI: 10.1097/IAE.0000000000002125 |
1 |
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| 2018 |
Albert S, Garanto A, Sangermano R, Khan M, Bax NM, Hoyng CB, Zernant J, Lee W, Allikmets R, Collin RWJ, Cremers FPM. Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease. American Journal of Human Genetics. PMID 29526278 DOI: 10.1016/j.ajhg.2018.02.008 |
1 |
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| 2018 |
Littink KW, Stappers PTY, Riemslag FCC, Talsma HE, van Genderen MM, Cremers FPM, Collin RWJ, van den Born LI. Correction: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68. Genes. 9. PMID 29518905 DOI: 10.3390/genes9030145 |
1 |
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| 2018 |
Littink KW, Stappers PTY, Riemslag FCC, Talsma HE, van Genderen MM, Cremers FPM, Collin RWJ, van den Born LI. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes. 9. PMID 29385733 DOI: 10.3390/genes9020068 |
1 |
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| 2018 |
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, et al. Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes. Genes. 9. PMID 29320387 DOI: 10.3390/genes9010021 |
1 |
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| 2017 |
Tracewska-Siemiątkowska A, Haer-Wigman L, Bosch DGM, Nickerson D, Bamshad MJ, van de Vorst M, Rendtorff ND, Möller C, Kjellström U, Andréasson S, Cremers FPM, Tranebjærg L. An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS. Genes. 8. PMID 29232904 DOI: 10.3390/genes8120381 |
1 |
|
| 2017 |
Sangermano R, Khan M, Cornelis SS, Richelle V, Albert S, Elmelik D, Garanto A, Qamar R, Lugtenberg D, van den Born LI, Collin RWJ, Cremers FPM. ABCA4 midigenes reveal the full splice spectrum of all reported non-canonical splice site variants in Stargardt disease. Genome Research. PMID 29162642 DOI: 10.1101/gr.226621.117 |
1 |
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| 2017 |
Messchaert M, Haer-Wigman L, Khan MI, Cremers FPM, Collin RWJ. EYS mutation update: In silico assessment of 271 reported and 26 novel variants in patients with retinitis pigmentosa. Human Mutation. PMID 29159838 DOI: 10.1002/humu.23371 |
1 |
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| 2017 |
Roosing S, Cremers FPM, Riemslag FCC, Zonneveld-Vrieling MN, Talsma HE, Klessens-Godfroy FJM, den Hollander AI, van den Born LI. A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290. Genes. 8. PMID 28829391 DOI: 10.3390/genes8080208 |
1 |
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| 2017 |
Chen CA, Bosch DGM, Cho ScM MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, ... ... Cremers FPM, et al. CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 19: 962. PMID 28777376 DOI: 10.1038/gim.2017.12 |
1 |
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| 2017 |
Nguyen TT, Hull S, Roepman R, van den Born LI, Oud MM, de Vrieze E, Hetterschijt L, Letteboer SJF, van Beersum SEC, Blokland EA, Yntema HG, Cremers FPM, van der Zwaag PA, Arno G, van Wijk E, et al. Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa. Journal of Medical Genetics. PMID 28442542 DOI: 10.1136/jmedgenet-2016-104200 |
1 |
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| 2017 |
Pierrache LHM, Kimchi A, Ratnapriya R, Roberts L, Astuti GDN, Obolensky A, Beryozkin A, Tjon-Fo-Sang MJH, Schuil J, Klaver CCW, Bongers EMHF, Haer-Wigman L, Schalij N, Breuning MH, Fischer GM, ... ... Cremers FPM, et al. Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma. Ophthalmology. PMID 28412069 DOI: 10.1016/j.ophtha.2017.03.010 |
1 |
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| 2017 |
Talib M, van Schooneveld MJ, van Genderen MM, Wijnholds J, Florijn RJ, Ten Brink JB, Schalij-Delfos NE, Dagnelie G, Cremers FP, Wolterbeek R, Fiocco M, Thiadens AA, Hoyng CB, Klaver CC, Bergen AA, et al. Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study. Ophthalmology. PMID 28341475 DOI: 10.1016/j.ophtha.2017.01.047 |
1 |
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| 2017 |
Cornelis SS, Bax NM, Zernant J, Allikmets R, Fritsche LG, den Dunnen JT, Ajmal M, Hoyng CB, Cremers FP. In silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases. Human Mutation. PMID 28044389 DOI: 10.1002/humu.23165 |
1 |
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| 2016 |
Bedoni N, Haer-Wigman L, Vaclavik V, Tran VH, Farinelli P, Balzano S, Royer-Bertrand B, El-Asrag ME, Bonny O, Ikonomidis C, Litzistorf Y, Nikopoulos K, Yioti GG, Stefaniotou MI, McKibbin M, ... ... Cremers FP, et al. Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. Human Molecular Genetics. 25: 4546-4555. PMID 28173158 DOI: 10.1093/hmg/ddw282 |
1 |
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| 2016 |
Lambertus S, Bax NM, Groenewoud JM, Cremers FP, van der Wilt GJ, Klevering BJ, Theelen T, Hoyng CB. Asymmetric Inter-Eye Progression in Stargardt Disease. Investigative Ophthalmology & Visual Science. 57: 6824-6830. PMID 28002570 DOI: 10.1167/iovs.16-20963 |
1 |
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| 2016 |
Astuti GD, Arno G, Hull S, Pierrache L, Venselaar H, Carss K, Raymond FL, Collin RW, Faradz SM, van den Born LI, Webster AR, Cremers FP. Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa. Investigative Ophthalmology & Visual Science. 57: 6180-6187. PMID 27842159 DOI: 10.1167/iovs.16-20148 |
1 |
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| 2016 |
Maria M, Lamers IJ, Schmidts M, Ajmal M, Jaffar S, Ullah E, Mustafa B, Ahmad S, Nazmutdinova K, Hoskins B, van Wijk E, Koster-Kamphuis L, Khan MI, Beales PL, Cremers FP, et al. Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum. Scientific Reports. 6: 34764. PMID 27708425 DOI: 10.1038/srep34764 |
1 |
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| 2016 |
Arno G, Hull S, Carss K, Dev-Borman A, Chakarova C, Bujakowska K, van den Born I, Robson AG, Holder GE, Michaelides M, Cremers FP, Pierce E, Raymond FL, Moore AT, Webster AR. Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1. Investigative Ophthalmology & Visual Science. 57: 4806-13. PMID 27623334 DOI: 10.1167/iovs.16-19687 |
1 |
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| 2016 |
Nikopoulos K, Farinelli P, Giangreco B, Tsika C, Royer-Bertrand B, Mbefo MK, Bedoni N, Kjellström U, El Zaoui I, Di Gioia SA, Balzano S, Cisarova K, Messina A, Decembrini S, Plainis S, ... ... Cremers FP, et al. Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. American Journal of Human Genetics. 99: 770-6. PMID 27588451 DOI: 10.1016/j.ajhg.2016.07.009 |
1 |
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| 2016 |
Bedoni N, Haer-Wigman L, Vaclavik V, Tran HV, Farinelli P, Balzano S, Royer-Bertrand B, El-Asrag ME, Bonny O, Ikonomidis C, Litzistorf Y, Nikopoulos K, Yioti G, Stefaniotou M, McKibbin M, ... ... Cremers FP, et al. Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility. Human Molecular Genetics. PMID 27554115 DOI: 10.1093/hmg/ddw282 |
1 |
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| 2016 |
Vincent A, Ng J, Gerth-Kahlert C, Tavares E, Maynes JT, Wright T, Tiwari A, Tumber A, Li S, Hanson JV, Bahr A, MacDonald H, Bähr L, Westall C, Berger W, ... Cremers FP, et al. Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis. Investigative Ophthalmology & Visual Science. 57: 2637-2646. PMID 27258436 DOI: 10.1167/iovs.15-18281 |
1 |
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| 2016 |
Liu YP, Bosch DG, Siemiatkowska AM, Rendtorff ND, Boonstra FN, Möller C, Tranebjærg L, Katsanis N, Cremers FP. Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy. Ophthalmic Genetics. 1-6. PMID 27029556 DOI: 10.3109/13816810.2016.1151898 |
1 |
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| 2016 |
Chen CA, Bosch DG, Cho MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, ... ... Cremers FP, et al. The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 26986877 DOI: 10.1038/gim.2016.18 |
1 |
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| 2016 |
Sangermano R, Bax NM, Bauwens M, van den Born LI, De Baere E, Garanto A, Collin RW, Goercharn-Ramlal AS, den Engelsman-van Dijk AH, Rohrschneider K, Hoyng CB, Cremers FP, Albert S. Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T→C Mutation in Stargardt Disease. Ophthalmology. PMID 26976702 DOI: 10.1016/j.ophtha.2016.01.053 |
1 |
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| 2016 |
Pierrache LH, Hartel BP, van Wijk E, Meester-Smoor MA, Cremers FP, de Baere E, de Zaeytijd J, van Schooneveld MJ, Cremers CW, Dagnelie G, Hoyng CB, Bergen AA, Leroy BP, Pennings RJ, van den Born LI, et al. Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa. Ophthalmology. PMID 26927203 DOI: 10.1016/j.ophtha.2016.01.021 |
1 |
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| 2015 |
Saksens NT, Krebs MP, Schoenmaker-Koller FE, Hicks W, Yu M, Shi L, Rowe L, Collin GB, Charette JR, Letteboer SJ, Neveling K, van Moorsel TW, Abu-Ltaif S, De Baere E, Walraedt S, ... ... Cremers FP, et al. Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity. Nature Genetics. PMID 26691986 DOI: 10.1038/ng.3474 |
1 |
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| 2015 |
Astuti GD, Bertelsen M, Preising MN, Ajmal M, Lorenz B, Faradz SM, Qamar R, Collin RW, Rosenberg T, Cremers FP. Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. European Journal of Human Genetics : Ejhg. PMID 26626312 DOI: 10.1038/ejhg.2015.241 |
1 |
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| 2015 |
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. A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa. Investigative Ophthalmology & Visual Science. 56: 7418-26. PMID 26574802 DOI: 10.1167/iovs.15-17920 |
1 |
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| 2015 |
Bosch DG, Boonstra FN, de Leeuw N, Pfundt R, Nillesen WM, de Ligt J, Gilissen C, Jhangiani S, Lupski JR, Cremers FP, de Vries BB. Novel genetic causes for cerebral visual impairment. European Journal of Human Genetics : Ejhg. PMID 26350515 DOI: 10.1038/ejhg.2015.186 |
1 |
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| 2015 |
Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Gonzalez Menendez I, Chang S, Beck SC, Garcia Garrido M, Sothilingam V, Seeliger MW, Stanzial F, Benedicenti F, Inzana F, Héon E, ... ... Cremers FP, et al. Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia. Nature Genetics. 47: 757-65. PMID 26029869 DOI: 10.1038/ng.3319 |
1 |
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| 2015 |
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, ... ... Cremers FP, et al. Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). Human Molecular Genetics. 24: 3742-51. PMID 25859010 DOI: 10.1093/hmg/ddv118 |
1 |
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| 2015 |
Bosch DG, Boonstra FN, Kinoshita T, Jhangiani S, de Ligt J, Cremers FP, Lupski JR, Murakami Y, de Vries BB. Cerebral visual impairment and intellectual disability caused by PGAP1 variants. European Journal of Human Genetics : Ejhg. PMID 25804403 DOI: 10.1038/ejhg.2015.42 |
1 |
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| 2015 |
Maria M, Ajmal M, Azam M, Waheed NK, Siddiqui SN, Mustafa B, Ayub H, Ali L, Ahmad S, Micheal S, Hussain A, Shah ST, Ali SH, Ahmed W, Khan YM, ... ... Cremers FP, et al. Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan. Plos One. 10: e0119806. PMID 25775262 DOI: 10.1371/journal.pone.0119806 |
1 |
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| 2015 |
Lambertus S, van Huet RA, Bax NM, Hoefsloot LH, Cremers FP, Boon CJ, Klevering BJ, Hoyng CB. Early-onset stargardt disease: phenotypic and genotypic characteristics. Ophthalmology. 122: 335-44. PMID 25444351 DOI: 10.1016/j.ophtha.2014.08.032 |
1 |
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| 2015 |
Bax NM, Sangermano R, Roosing S, Thiadens AA, Hoefsloot LH, van den Born LI, Phan M, Klevering BJ, Westeneng-van Haaften C, Braun TA, Zonneveld-Vrieling MN, de Wijs I, Mutlu M, Stone EM, den Hollander AI, ... ... Cremers FP, et al. Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant. Human Mutation. 36: 43-7. PMID 25363634 DOI: 10.1002/humu.22717 |
1 |
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| 2015 |
Bosch DG, Boonstra FN, Pfundt R, Cremers FP, de Vries BB. Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12. Clinical Dysmorphology. 24: 34-7. PMID 25356883 DOI: 10.1097/MCD.0000000000000062 |
1 |
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| 2015 |
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. Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. Ophthalmology. 122: 170-9. PMID 25227500 DOI: 10.1016/j.ophtha.2014.07.040 |
1 |
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| 2015 |
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, et al. Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. Human Molecular Genetics. 24: 230-42. PMID 25168386 DOI: 10.1093/hmg/ddu441 |
1 |
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| 2014 |
van Huet RA, Oomen CJ, Plomp AS, van Genderen MM, Klevering BJ, Schlingemann RO, Klaver CC, van den Born LI, Cremers FP. The RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseases. Investigative Ophthalmology & Visual Science. 55: 7355-60. PMID 25404643 DOI: 10.1167/iovs.14-15317 |
1 |
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| 2014 |
van Huet RA, Bax NM, Westeneng-Van Haaften SC, Muhamad M, Zonneveld-Vrieling MN, Hoefsloot LH, Cremers FP, Boon CJ, Klevering BJ, Hoyng CB. Foveal sparing in Stargardt disease. Investigative Ophthalmology & Visual Science. 55: 7467-78. PMID 25324290 DOI: 10.1167/iovs.13-13825 |
1 |
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| 2014 |
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. Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial. Lancet (London, England). 384: 1513-20. PMID 25030840 DOI: 10.1016/S0140-6736(14)60153-7 |
1 |
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| 2014 |
Roosing S, Lamers IJ, de Vrieze E, van den Born LI, Lambertus S, Arts HH, Peters TA, Hoyng CB, Kremer H, Hetterschijt L, Letteboer SJ, van Wijk E, Roepman R, den Hollander AI, ... Cremers FP, et al. Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. American Journal of Human Genetics. 95: 131-42. PMID 25018096 DOI: 10.1016/j.ajhg.2014.06.012 |
1 |
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| 2014 |
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. Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis. Molecular Vision. 20: 753-9. PMID 24940029 |
1 |
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| 2014 |
Siemiatkowska AM, Collin RW, den Hollander AI, Cremers FP. Genomic approaches for the discovery of genes mutated in inherited retinal degeneration. Cold Spring Harbor Perspectives in Medicine. 4. PMID 24939053 DOI: 10.1101/cshperspect.a017137 |
1 |
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| 2014 |
Bosch DG, Boonstra FN, Reijnders MR, Pfundt R, Cremers FP, de Vries BB. Chromosomal aberrations in cerebral visual impairment. European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society. 18: 677-84. PMID 24912731 DOI: 10.1016/j.ejpn.2014.05.002 |
1 |
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| 2014 |
Bosch DG, Boonstra FN, Willemsen MA, Cremers FP, de Vries BB. Low vision due to cerebral visual impairment: differentiating between acquired and genetic causes. Bmc Ophthalmology. 14: 59. PMID 24886270 DOI: 10.1186/1471-2415-14-59 |
1 |
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| 2014 |
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. IMPG2-associated retinitis pigmentosa displays relatively early macular involvement. Investigative Ophthalmology & Visual Science. 55: 3939-53. PMID 24876279 DOI: 10.1167/iovs.14-14129 |
1 |
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| 2014 |
Roosing S, Thiadens AA, Hoyng CB, Klaver CC, den Hollander AI, Cremers FP. Causes and consequences of inherited cone disorders. Progress in Retinal and Eye Research. 42: 1-26. PMID 24857951 DOI: 10.1016/j.preteyeres.2014.05.001 |
1 |
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| 2014 |
Siemiatkowska AM, Schuurs-Hoeijmakers JH, Bosch DG, Boonstra FN, Riemslag FC, Ruiter M, de Vries BB, den Hollander AI, Collin RW, Cremers FP. Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1. Jama Ophthalmology. 132: 1002-4. PMID 24830548 DOI: 10.1001/jamaophthalmol.2014.983 |
1 |
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| 2014 |
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. A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma. Journal of Medical Genetics. 51: 444-8. PMID 24737827 DOI: 10.1136/jmedgenet-2014-102316 |
1 |
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| 2014 |
Khan MI, Azam M, Ajmal M, Collin RW, den Hollander AI, Cremers FP, Qamar R. The molecular basis of retinal dystrophies in pakistan. Genes. 5: 176-95. PMID 24705292 DOI: 10.3390/genes5010176 |
1 |
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| 2014 |
Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, ... ... Cremers FP, et al. Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. Ophthalmology. 121: 1620-7. PMID 24697911 DOI: 10.1016/j.ophtha.2014.02.008 |
1 |
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| 2014 |
Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA, ... ... Cremers FP, et al. NR2F1 mutations cause optic atrophy with intellectual disability. American Journal of Human Genetics. 94: 303-9. PMID 24462372 DOI: 10.1016/j.ajhg.2014.01.002 |
1 |
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| 2014 |
MacLaren RE, Groppe M, Barnard AR, Cottriall CL, Tolmachova T, Seymour L, Clark KR, During MJ, Cremers FP, Black GC, Lotery AJ, Downes SM, Webster AR, Seabra MC. Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial. Lancet (London, England). 383: 1129-37. PMID 24439297 DOI: 10.1016/S0140-6736(13)62117-0 |
1 |
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| 2014 |
Roosing S, Collin RW, den Hollander AI, Cremers FP, Siemiatkowska AM. Prenylation defects in inherited retinal diseases. Journal of Medical Genetics. 51: 143-51. PMID 24401286 DOI: 10.1136/jmedgenet-2013-102138 |
1 |
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| 2014 |
Corton M, Avila-Fernandez A, Vallespín E, López-Molina MI, Almoguera B, Martín-Garrido E, Tatu SD, Khan MI, Blanco-Kelly F, Riveiro-Alvarez R, Brión M, García-Sandoval B, Cremers FP, Carracedo A, Ayuso C. Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population. Ophthalmology. 121: 399-407. PMID 24144451 DOI: 10.1016/j.ophtha.2013.08.028 |
1 |
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| 2014 |
Cremers FP, den Dunnen JT, Ajmal M, Hussain A, Preising MN, Daiger SP, Qamar R. Comprehensive registration of DNA sequence variants associated with inherited retinal diseases in Leiden Open Variation Databases. Human Mutation. 35: 147-8. PMID 24123322 DOI: 10.1002/humu.22458 |
1 |
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| 2013 |
Garanto A, van Beersum SE, Peters TA, Roepman R, Cremers FP, Collin RW. Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis. Plos One. 8: e79369. PMID 24223178 DOI: 10.1371/journal.pone.0079369 |
1 |
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| 2013 |
Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, Rodenburg RJ, Yntema HG, Spruijt L, Vermeer S, Rinne T, van Gassen KL, Bodmer D, Lugtenberg D, de Reuver R, ... ... Cremers FP, et al. A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases. Human Mutation. 34: 1721-6. PMID 24123792 DOI: 10.1002/humu.22450 |
1 |
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| 2013 |
Siemiatkowska AM, van den Born LI, van Hagen PM, Stoffels M, Neveling K, Henkes A, Kipping-Geertsema M, Hoefsloot LH, Hoyng CB, Simon A, den Hollander AI, Cremers FP, Collin RW. Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa. Ophthalmology. 120: 2697-705. PMID 24084495 DOI: 10.1016/j.ophtha.2013.07.052 |
1 |
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| 2013 |
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, ... ... Cremers FP, et al. Mutations in IMPG1 cause vitelliform macular dystrophies. American Journal of Human Genetics. 93: 571-8. PMID 23993198 DOI: 10.1016/j.ajhg.2013.07.018 |
1 |
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| 2013 |
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, ... ... Cremers FP, et al. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations. Human Mutation. 34: 1537-46. PMID 23946133 DOI: 10.1002/humu.22398 |
1 |
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| 2013 |
Roosing S, Rohrschneider K, Beryozkin A, Sharon D, Weisschuh N, Staller J, Kohl S, Zelinger L, Peters TA, Neveling K, Strom TM, van den Born LI, Hoyng CB, Klaver CC, ... ... Cremers FP, et al. Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. American Journal of Human Genetics. 93: 110-7. PMID 23746546 DOI: 10.1016/j.ajhg.2013.05.005 |
1 |
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| 2013 |
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, ... ... Cremers FP, et al. ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proceedings of the National Academy of Sciences of the United States of America. 110: 9856-61. PMID 23716654 DOI: 10.1073/pnas.1220864110 |
1 |
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| 2013 |
Ajmal M, Khan MI, Neveling K, Tayyab A, Jaffar S, Sadeque A, Ayub H, Abbasi NM, Riaz M, Micheal S, Gilissen C, Ali SH, Azam M, Collin RW, Cremers FP, et al. Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome. Molecular Vision. 19: 644-53. PMID 23559858 |
1 |
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| 2013 |
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. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction. Ophthalmology. 120: 1239-46. PMID 23499059 DOI: 10.1016/j.ophtha.2012.12.005 |
1 |
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| 2013 |
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, ... ... Cremers FP, et al. Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. Plos One. 8: e51622. PMID 23308101 DOI: 10.1371/journal.pone.0051622 |
1 |
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| 2013 |
Neveling K, den Hollander AI, Cremers FP, Collin RW. Identification and analysis of inherited retinal disease genes. Methods in Molecular Biology (Clifton, N.J.). 935: 3-23. PMID 23150357 DOI: 10.1007/978-1-62703-080-9_1 |
1 |
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| 2013 |
Khan MI, Ajmal M, Micheal S, Azam M, Hussain A, Shahzad A, Venselaar H, Bokhari H, de Wijs IJ, Hoefsloot LH, Waheed NK, Collin RW, den Hollander AI, Qamar R, Cremers FP. Homozygosity mapping identifies genetic defects in four consanguineous families with retinal dystrophy from Pakistan. Clinical Genetics. 84: 290-3. PMID 23134348 DOI: 10.1111/cge.12039 |
1 |
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| 2012 |
Collin RW, den Hollander AI, van der Velde-Visser SD, Bennicelli J, Bennett J, Cremers FP. Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290. Molecular Therapy. Nucleic Acids. 1: e14. PMID 23343883 DOI: 10.1038/mtna.2012.3 |
1 |
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| 2012 |
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, ... ... Cremers FP, et al. BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. Archives of Ophthalmology (Chicago, Ill. : 1960). 130: 1425-32. PMID 23143442 DOI: 10.1001/archophthalmol.2012.2434 |
1 |
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| 2012 |
Paun CC, Pijl BJ, Siemiatkowska AM, Collin RW, Cremers FP, Hoyng CB, den Hollander AI. A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen. Molecular Vision. 18: 2447-53. PMID 23077403 |
1 |
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| 2012 |
Siemiatkowska AM, Astuti GD, Arimadyo K, den Hollander AI, Faradz SM, Cremers FP, Collin RW. Identification of a novel nonsense mutation in RP1 that causes autosomal recessive retinitis pigmentosa in an Indonesian family. Molecular Vision. 18: 2411-9. PMID 23077400 |
1 |
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| 2012 |
Liu Q, Collin RW, Cremers FP, den Hollander AI, van den Born LI, Pierce EA. Expression of wild-type Rp1 protein in Rp1 knock-in mice rescues the retinal degeneration phenotype. Plos One. 7: e43251. PMID 22927954 DOI: 10.1371/journal.pone.0043251 |
1 |
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| 2012 |
Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC, Lukowski R, den Hollander AI, Cremers FP, De Baere E, Hoyng CB, et al. A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. American Journal of Human Genetics. 91: 527-32. PMID 22901948 DOI: 10.1016/j.ajhg.2012.07.006 |
1 |
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| 2012 |
Estrada-Cuzcano A, Roepman R, Cremers FP, den Hollander AI, Mans DA. Non-syndromic retinal ciliopathies: translating gene discovery into therapy. Human Molecular Genetics. 21: R111-24. PMID 22843501 DOI: 10.1093/hmg/dds298 |
1 |
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| 2012 |
Ajmal M, Khan MI, Neveling K, Khan YM, Ali SH, Ahmed W, Iqbal MS, Azam M, den Hollander AI, Collin RW, Qamar R, Cremers FP. Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families. Molecular Vision. 18: 1558-71. PMID 22736946 |
1 |
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| 2012 |
Waheed NK, Qavi AH, Malik SN, Maria M, Riaz M, Cremers FP, Azam M, Qamar R. A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease. Molecular Vision. 18: 1253-9. PMID 22665972 |
1 |
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| 2012 |
Ajmal M, Khan MI, Micheal S, Ahmed W, Shah A, Venselaar H, Bokhari H, Azam A, Waheed NK, Collin RW, den Hollander AI, Qamar R, Cremers FP. Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa. Molecular Vision. 18: 1226-37. PMID 22665969 |
1 |
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| 2012 |
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. Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. Investigative Ophthalmology & Visual Science. 53: 4458-67. PMID 22661473 DOI: 10.1167/iovs.11-9166 |
1 |
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| 2012 |
Littink KW, van Genderen MM, van Schooneveld MJ, Visser L, Riemslag FC, Keunen JE, Bakker B, Zonneveld MN, den Hollander AI, Cremers FP, van den Born LI. A homozygous frameshift mutation in LRAT causes retinitis punctata albescens. Ophthalmology. 119: 1899-906. PMID 22559933 DOI: 10.1016/j.ophtha.2012.02.037 |
1 |
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| 2012 |
Westeneng-van Haaften SC, Boon CJ, Cremers FP, Hoefsloot LH, den Hollander AI, Hoyng CB. Clinical and genetic characteristics of late-onset Stargardt's disease. Ophthalmology. 119: 1199-210. PMID 22449572 DOI: 10.1016/j.ophtha.2012.01.005 |
1 |
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| 2012 |
Yzer S, Hollander AI, Lopez I, Pott JW, de Faber JT, Cremers FP, Koenekoop RK, van den Born LI. Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290. Molecular Vision. 18: 412-25. PMID 22355252 |
1 |
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| 2012 |
Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, Buckley MF, Kellner U, Branham KE, ... ... Cremers FP, et al. Next-generation genetic testing for retinitis pigmentosa. Human Mutation. 33: 963-72. PMID 22334370 DOI: 10.1002/humu.22045 |
1 |
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| 2012 |
Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC, Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, ... ... Cremers FP, et al. Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology. 119: 819-26. PMID 22264887 DOI: 10.1016/j.ophtha.2011.10.011 |
1 |
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| 2012 |
Littink KW, den Hollander AI, Cremers FP, Collin RW. The power of homozygosity mapping: discovery of new genetic defects in patients with retinal dystrophy. Advances in Experimental Medicine and Biology. 723: 345-51. PMID 22183352 DOI: 10.1007/978-1-4614-0631-0_45 |
1 |
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| 2012 |
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, ... ... Cremers FP, et al. Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. American Journal of Human Genetics. 90: 102-9. PMID 22177090 DOI: 10.1016/j.ajhg.2011.11.015 |
1 |
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| 2011 |
Avila-Fernández A, Cortón M, López-Molina MI, Martín-Garrido E, Cantalapiedra D, Fernández-Sánchez R, Blanco-Kelly F, Riveiro-Álvarez R, Tatu SD, Trujillo-Tiebas MJ, García-Sandoval B, Ayuso C, Cremers FP. Late onset retinitis pigmentosa. Ophthalmology. 118: 2523-4. PMID 22136677 DOI: 10.1016/j.ophtha.2011.07.030 |
1 |
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| 2011 |
Siemiatkowska AM, Arimadyo K, Moruz LM, Astuti GD, de Castro-Miro M, Zonneveld MN, Strom TM, de Wijs IJ, Hoefsloot LH, Faradz SM, Cremers FP, den Hollander AI, Collin RW. Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping. Molecular Vision. 17: 3013-24. PMID 22128245 |
1 |
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| 2011 |
Azam M, Collin RW, Malik A, Khan MI, Shah ST, Shah AA, Hussain A, Sadeque A, Arimadyo K, Ajmal M, Azam A, Qureshi N, Bokhari H, Strom TM, Cremers FP, et al. Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa. Archives of Ophthalmology (Chicago, Ill. : 1960). 129: 1377-8. PMID 21987686 DOI: 10.1001/archophthalmol.2011.290 |
1 |
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| 2011 |
Wissinger B, Schaich S, Baumann B, Bonin M, Jägle H, Friedburg C, Varsányi B, Hoyng CB, Dollfus H, Heckenlively JR, Rosenberg T, Rudolph G, Kellner U, Salati R, Plomp A, ... ... Cremers FP, et al. Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. Human Mutation. 32: 1398-406. PMID 21882291 DOI: 10.1002/humu.21580 |
1 |
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| 2011 |
Ozgül RK, Siemiatkowska AM, Yücel D, Myers CA, Collin RW, Zonneveld MN, Beryozkin A, Banin E, Hoyng CB, van den Born LI, Bose R, Shen W, Sharon D, Cremers FP, et al. Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa. American Journal of Human Genetics. 89: 253-64. PMID 21835304 DOI: 10.1016/j.ajhg.2011.07.005 |
1 |
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| 2011 |
Coene KL, Mans DA, Boldt K, Gloeckner CJ, van Reeuwijk J, Bolat E, Roosing S, Letteboer SJ, Peters TA, Cremers FP, Ueffing M, Roepman R. The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase. Human Molecular Genetics. 20: 3592-605. PMID 21685204 DOI: 10.1093/hmg/ddr280 |
1 |
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| 2011 |
Boldt K, Mans DA, Won J, van Reeuwijk J, Vogt A, Kinkl N, Letteboer SJ, Hicks WL, Hurd RE, Naggert JK, Texier Y, den Hollander AI, Koenekoop RK, Bennett J, Cremers FP, et al. Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice. The Journal of Clinical Investigation. 121: 2169-80. PMID 21606596 DOI: 10.1172/JCI45627 |
1 |
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| 2011 |
Nikopoulos K, Schrauwen I, Simon M, Collin RW, Veckeneer M, Keymolen K, Van Camp G, Cremers FP, van den Born LI. Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. Investigative Ophthalmology & Visual Science. 52: 4774-9. PMID 21421862 DOI: 10.1167/iovs.10-7128 |
1 |
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| 2011 |
Khan MI, Kersten FF, Azam M, Collin RW, Hussain A, Shah ST, Keunen JE, Kremer H, Cremers FP, Qamar R, den Hollander AI. CLRN1 mutations cause nonsyndromic retinitis pigmentosa. Ophthalmology. 118: 1444-8. PMID 21310491 DOI: 10.1016/j.ophtha.2010.10.047 |
1 |
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| 2011 |
Collin RW, van den Born LI, Klevering BJ, de Castro-Miró M, Littink KW, Arimadyo K, Azam M, Yazar V, Zonneveld MN, Paun CC, Siemiatkowska AM, Strom TM, Hehir-Kwa JY, Kroes HY, de Faber JT, ... ... Cremers FP, et al. High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population. Investigative Ophthalmology & Visual Science. 52: 2227-39. PMID 21217109 DOI: 10.1167/iovs.10-6185 |
1 |
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| 2011 |
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, ... ... Cremers FP, et al. IQCB1 mutations in patients with leber congenital amaurosis. Investigative Ophthalmology & Visual Science. 52: 834-9. PMID 20881296 DOI: 10.1167/iovs.10-5221 |
1 |
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| 2010 |
Khan MI, Collin RW, Arimadyo K, Micheal S, Azam M, Qureshi N, Faradz SM, den Hollander AI, Qamar R, Cremers FP. Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa. Molecular Vision. 16: 2753-9. PMID 21179430 |
1 |
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| 2010 |
Ávila-Fernández A, Cantalapiedra D, Aller E, Vallespín E, Aguirre-Lambán J, Blanco-Kelly F, Corton M, Riveiro-Álvarez R, Allikmets R, Trujillo-Tiebas MJ, Millán JM, Cremers FP, Ayuso C. Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. Molecular Vision. 16: 2550-8. PMID 21151602 |
1 |
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| 2010 |
den Hollander AI, Black A, Bennett J, Cremers FP. Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies. The Journal of Clinical Investigation. 120: 3042-53. PMID 20811160 DOI: 10.1172/JCI42258 |
1 |
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| 2010 |
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, ... ... Cremers FP, et al. Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. American Journal of Human Genetics. 87: 199-208. PMID 20673862 DOI: 10.1016/j.ajhg.2010.07.004 |
1 |
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| 2010 |
Thiadens AA, Somervuo V, van den Born LI, Roosing S, van Schooneveld MJ, Kuijpers RW, van Moll-Ramirez N, Cremers FP, Hoyng CB, Klaver CC. Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography. Investigative Ophthalmology & Visual Science. 51: 5952-7. PMID 20574029 DOI: 10.1167/iovs.10-5680 |
1 |
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| 2010 |
Mukhopadhyay A, Kramer JM, Merkx G, Lugtenberg D, Smeets DF, Oortveld MA, Blokland EA, Agrawal J, Schenck A, van Bokhoven H, Huys E, Schoenmakers EF, van Kessel AG, van Nouhuys CE, Cremers FP. CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation. Human Genetics. 128: 281-91. PMID 20563892 DOI: 10.1007/s00439-010-0848-x |
1 |
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| 2010 |
Littink KW, Koenekoop RK, van den Born LI, Collin RW, Moruz L, Veltman JA, Roosing S, Zonneveld MN, Omar A, Darvish M, Lopez I, Kroes HY, van Genderen MM, Hoyng CB, Rohrschneider K, ... ... Cremers FP, et al. Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Investigative Ophthalmology & Visual Science. 51: 5943-51. PMID 20554613 DOI: 10.1167/iovs.10-5797 |
1 |
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| 2010 |
Littink KW, van den Born LI, Koenekoop RK, Collin RW, Zonneveld MN, Blokland EA, Khan H, Theelen T, Hoyng CB, Cremers FP, den Hollander AI, Klevering BJ. Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype. Ophthalmology. 117: 2026-33, 2033.e1-7. PMID 20537394 DOI: 10.1016/j.ophtha.2010.01.040 |
1 |
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| 2010 |
Azam M, Collin RW, Shah ST, Shah AA, Khan MI, Hussain A, Sadeque A, Strom TM, Thiadens AA, Roosing S, den Hollander AI, Cremers FP, Qamar R. Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. Molecular Vision. 16: 774-81. PMID 20454696 |
1 |
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| 2010 |
Collin RW, Safieh C, Littink KW, Shalev SA, Garzozi HJ, Rizel L, Abbasi AH, Cremers FP, den Hollander AI, Klevering BJ, Ben-Yosef T. Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. American Journal of Human Genetics. 86: 783-8. PMID 20398884 DOI: 10.1016/j.ajhg.2010.03.016 |
1 |
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| 2010 |
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. Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population. Investigative Ophthalmology & Visual Science. 51: 4387-94. PMID 20375346 DOI: 10.1167/iovs.09-4732 |
1 |
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| 2010 |
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, ... ... Cremers FP, et al. Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. Human Mutation. 31: 656-66. PMID 20340138 DOI: 10.1002/humu.21250 |
1 |
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| 2010 |
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, ... ... Cremers FP, et al. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. American Journal of Human Genetics. 86: 240-7. PMID 20159111 DOI: 10.1016/j.ajhg.2009.12.016 |
1 |
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| 2010 |
Schraders M, Lee K, Oostrik J, Huygen PL, Ali G, Hoefsloot LH, Veltman JA, Cremers FP, Basit S, Ansar M, Cremers CW, Kunst HP, Ahmad W, Admiraal RJ, Leal SM, et al. Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment. American Journal of Human Genetics. 86: 138-47. PMID 20137778 DOI: 10.1016/j.ajhg.2009.12.017 |
1 |
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| 2010 |
Littink KW, Pott JW, Collin RW, Kroes HY, Verheij JB, Blokland EA, de Castro Miró M, Hoyng CB, Klaver CC, Koenekoop RK, Rohrschneider K, Cremers FP, van den Born LI, den Hollander AI. A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype. Investigative Ophthalmology & Visual Science. 51: 3646-52. PMID 20130272 DOI: 10.1167/iovs.09-5074 |
1 |
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| 2010 |
Louie CM, Caridi G, Lopes VS, Brancati F, Kispert A, Lancaster MA, Schlossman AM, Otto EA, Leitges M, Gröne HJ, Lopez I, Gudiseva HV, O'Toole JF, Vallespin E, Ayyagari R, ... ... Cremers FP, et al. AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. Nature Genetics. 42: 175-80. PMID 20081859 DOI: 10.1038/ng.519 |
1 |
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| 2010 |
Thiadens AA, Roosing S, Collin RW, van Moll-Ramirez N, van Lith-Verhoeven JJ, van Schooneveld MJ, den Hollander AI, van den Born LI, Hoyng CB, Cremers FP, Klaver CC. Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. Ophthalmology. 117: 825-30.e1. PMID 20079539 DOI: 10.1016/j.ophtha.2009.09.008 |
1 |
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| 2010 |
Schmid F, Glaus E, Cremers FP, Kloeckener-Gruissem B, Berger W, Neidhardt J. Mutation- and tissue-specific alterations of RPGR transcripts. Investigative Ophthalmology & Visual Science. 51: 1628-35. PMID 19834030 DOI: 10.1167/iovs.09-4031 |
1 |
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| 2009 |
Azam M, Khan MI, Gal A, Hussain A, Shah ST, Khan MS, Sadeque A, Bokhari H, Collin RW, Orth U, van Genderen MM, den Hollander AI, Cremers FP, Qamar R. A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa. Molecular Vision. 15: 2526-34. PMID 19960070 |
1 |
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| 2009 |
Cremers FP, Collin RW. Promises and challenges of genetic therapy for blindness. Lancet (London, England). 374: 1569-70. PMID 19854500 DOI: 10.1016/S0140-6736(09)61869-9 |
1 |
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| 2009 |
Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, ... Cremers FP, et al. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. American Journal of Human Genetics. 85: 465-81. PMID 19800048 DOI: 10.1016/j.ajhg.2009.09.002 |
1 |
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| 2009 |
Vermeer S, Meijer RP, Hofste TG, Bodmer D, Bosgoed EA, Cremers FP, Kremer BH, Knoers NV, Scheffer H. Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene. The Journal of Molecular Diagnostics : Jmd. 11: 514-23. PMID 19779133 DOI: 10.2353/jmoldx.2009.090059 |
1 |
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| 2009 |
Azam M, Collin RW, Khan MI, Shah ST, Qureshi N, Ajmal M, den Hollander AI, Qamar R, Cremers FP. A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family. Molecular Vision. 15: 1788-93. PMID 19753316 |
1 |
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| 2009 |
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, ... ... Cremers FP, et al. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. American Journal of Human Genetics. 85: 240-7. PMID 19615668 DOI: 10.1016/j.ajhg.2009.06.016 |
1 |
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| 2009 |
Thiadens AA, Slingerland NW, Roosing S, van Schooneveld MJ, van Lith-Verhoeven JJ, van Moll-Ramirez N, van den Born LI, Hoyng CB, Cremers FP, Klaver CC. Genetic etiology and clinical consequences of complete and incomplete achromatopsia. Ophthalmology. 116: 1984-9.e1. PMID 19592100 DOI: 10.1016/j.ophtha.2009.03.053 |
1 |
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| 2009 |
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-Saïd S, et al. Genotyping microarray for CSNB-associated genes. Investigative Ophthalmology & Visual Science. 50: 5919-26. PMID 19578023 DOI: 10.1167/iovs.09-3548 |
1 |
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| 2009 |
Boon CJ, Theelen T, Hoefsloot EH, van Schooneveld MJ, Keunen JE, Cremers FP, Klevering BJ, Hoyng CB. Clinical and molecular genetic analysis of best vitelliform macular dystrophy. Retina (Philadelphia, Pa.). 29: 835-47. PMID 19357557 DOI: 10.1097/IAE.0b013e31819d4fda |
1 |
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| 2009 |
Boonstra FN, van Nouhuys CE, Schuil J, de Wijs IJ, van der Donk KP, Nikopoulos K, Mukhopadhyay A, Scheffer H, Tilanus MA, Cremers FP, Hoefsloot LH. Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy. Investigative Ophthalmology & Visual Science. 50: 4379-85. PMID 19324841 DOI: 10.1167/iovs.08-3320 |
1 |
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| 2009 |
Boon CJ, van de Kar NC, Klevering BJ, Keunen JE, Cremers FP, Klaver CC, Hoyng CB, Daha MR, den Hollander AI. The spectrum of phenotypes caused by variants in the CFH gene. Molecular Immunology. 46: 1573-94. PMID 19297022 DOI: 10.1016/j.molimm.2009.02.013 |
1 |
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| 2009 |
Boon CJ, Klevering BJ, Cremers FP, Zonneveld-Vrieling MN, Theelen T, Den Hollander AI, Hoyng CB. Central areolar choroidal dystrophy. Ophthalmology. 116: 771-82, 782.e1. PMID 19243827 DOI: 10.1016/j.ophtha.2008.12.019 |
1 |
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| 2009 |
Littink KW, van Genderen MM, Collin RW, Roosing S, de Brouwer AP, Riemslag FC, Venselaar H, Thiadens AA, Hoyng CB, Rohrschneider K, den Hollander AI, Cremers FP, van den Born LI. A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder. Investigative Ophthalmology & Visual Science. 50: 2344-50. PMID 19074807 DOI: 10.1167/iovs.08-2553 |
1 |
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| 2008 |
Collin RW, Littink KW, Klevering BJ, van den Born LI, Koenekoop RK, Zonneveld MN, Blokland EA, Strom TM, Hoyng CB, den Hollander AI, Cremers FP. Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. American Journal of Human Genetics. 83: 594-603. PMID 18976725 DOI: 10.1016/j.ajhg.2008.10.014 |
1 |
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| 2008 |
den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Progress in Retinal and Eye Research. 27: 391-419. PMID 18632300 DOI: 10.1016/j.preteyeres.2008.05.003 |
1 |
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| 2008 |
Gosens I, den Hollander AI, Cremers FP, Roepman R. Composition and function of the Crumbs protein complex in the mammalian retina. Experimental Eye Research. 86: 713-26. PMID 18407265 DOI: 10.1016/j.exer.2008.02.005 |
1 |
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| 2008 |
Boon CJ, den Hollander AI, Hoyng CB, Cremers FP, Klevering BJ, Keunen JE. The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene. Progress in Retinal and Eye Research. 27: 213-35. PMID 18328765 DOI: 10.1016/j.preteyeres.2008.01.002 |
1 |
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| 2008 |
Boon CJ, Klevering BJ, Hoyng CB, Zonneveld-Vrieling MN, Nabuurs SB, Blokland E, Cremers FP, den Hollander AI. Basal laminar drusen caused by compound heterozygous variants in the CFH gene. American Journal of Human Genetics. 82: 516-23. PMID 18252232 DOI: 10.1016/j.ajhg.2007.11.007 |
1 |
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| 2008 |
Frank V, den Hollander AI, Brüchle NO, Zonneveld MN, Nürnberg G, Becker C, Du Bois G, Kendziorra H, Roosing S, Senderek J, Nürnberg P, Cremers FP, Zerres K, Bergmann C. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Human Mutation. 29: 45-52. PMID 17705300 DOI: 10.1002/humu.20614 |
1 |
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| 2007 |
den Hollander AI, Lopez I, Yzer S, Zonneveld MN, Janssen IM, Strom TM, Hehir-Kwa JY, Veltman JA, Arends ML, Meitinger T, Musarella MA, van den Born LI, Fishman GA, Maumenee IH, Rohrschneider K, ... Cremers FP, et al. Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. Investigative Ophthalmology & Visual Science. 48: 5690-8. PMID 18055821 DOI: 10.1167/iovs.07-0610 |
1 |
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| 2007 |
Gosens I, Sessa A, den Hollander AI, Letteboer SJ, Belloni V, Arends ML, Le Bivic A, Cremers FP, Broccoli V, Roepman R. FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex. Experimental Cell Research. 313: 3959-70. PMID 17920587 DOI: 10.1016/j.yexcr.2007.08.025 |
1 |
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| 2007 |
Koenekoop RK, Cremers FP, den Hollander AI. Leber congenital amaurosis: ciliary proteins on the move. Ophthalmic Genetics. 28: 111-2. PMID 17896308 DOI: 10.1080/13816810701537457 |
1 |
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| 2007 |
Boon CJ, Klevering BJ, den Hollander AI, Zonneveld MN, Theelen T, Cremers FP, Hoyng CB. Clinical and genetic heterogeneity in multifocal vitelliform dystrophy. Archives of Ophthalmology (Chicago, Ill. : 1960). 125: 1100-6. PMID 17698758 DOI: 10.1001/archopht.125.8.1100 |
1 |
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| 2007 |
Koenekoop RK, Lopez I, den Hollander AI, Allikmets R, Cremers FP. Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions. Clinical & Experimental Ophthalmology. 35: 473-85. PMID 17651254 DOI: 10.1111/j.1442-9071.2007.01534.x |
1 |
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| 2007 |
den Hollander AI, van Lith-Verhoeven JJ, Arends ML, Strom TM, Cremers FP, Hoyng CB. Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. Archives of Ophthalmology (Chicago, Ill. : 1960). 125: 932-5. PMID 17620573 DOI: 10.1001/archopht.125.7.932 |
1 |
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| 2007 |
den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, ... ... Cremers FP, et al. Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. Nature Genetics. 39: 889-95. PMID 17546029 DOI: 10.1038/ng2066 |
1 |
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| 2007 |
Boon CJ, van Schooneveld MJ, den Hollander AI, van Lith-Verhoeven JJ, Zonneveld-Vrieling MN, Theelen T, Cremers FP, Hoyng CB, Klevering BJ. Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus. The British Journal of Ophthalmology. 91: 1504-11. PMID 17504850 DOI: 10.1136/bjo.2007.115659 |
1 |
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| 2007 |
Collin RWJ, Kalay E, Oostrik J, Çaylan R, Wollnik B, Arslan S, Den Hollander AI, Birinci Y, Lichtner P, Strom TM, Toraman B, Hoefsloot LH, Cremers CWRJ, Brunner HG, Cremers FPM, et al. Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment Human Mutation. 28: 718-723. PMID 17373699 DOI: 10.1002/humu.20510 |
1 |
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| 2006 |
Richard M, Roepman R, Aartsen WM, van Rossum AG, den Hollander AI, Knust E, Wijnholds J, Cremers FP. Towards understanding CRUMBS function in retinal dystrophies. Human Molecular Genetics. 15: R235-43. PMID 16987889 DOI: 10.1093/hmg/ddl195 |
1 |
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| 2006 |
den Hollander AI, Koenekoop RK, Yzer S, Lopez I, Arends ML, Voesenek KE, Zonneveld MN, Strom TM, Meitinger T, Brunner HG, Hoyng CB, van den Born LI, Rohrschneider K, Cremers FP. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. American Journal of Human Genetics. 79: 556-61. PMID 16909394 DOI: 10.1086/507318 |
1 |
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| 2006 |
Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, ... ... Cremers FP, et al. Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss. Human Mutation. 27: 633-9. PMID 16752389 DOI: 10.1002/humu.20368 |
1 |
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| 2006 |
Yzer S, Leroy BP, De Baere E, de Ravel TJ, Zonneveld MN, Voesenek K, Kellner U, Ciriano JP, de Faber JT, Rohrschneider K, Roepman R, den Hollander AI, Cruysberg JR, Meire F, Casteels I, ... ... Cremers FP, et al. Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. Investigative Ophthalmology & Visual Science. 47: 1167-76. PMID 16505055 DOI: 10.1167/iovs.05-0848 |
1 |
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| 2005 |
Yzer S, van den Born LI, Cremers FP, den Hollander AI. [From gene to disease; Leber congenital amaurosis (LCA)]. Nederlands Tijdschrift Voor Geneeskunde. 149: 2334-7. PMID 16261712 |
1 |
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| 2005 |
Zernant J, Külm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, Allikmets R. Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles. Investigative Ophthalmology & Visual Science. 46: 3052-9. PMID 16123401 DOI: 10.1167/iovs.05-0111 |
1 |
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| 2005 |
Kantardzhieva A, Gosens I, Alexeeva S, Punte IM, Versteeg I, Krieger E, Neefjes-Mol CA, den Hollander AI, Letteboer SJ, Klooster J, Cremers FP, Roepman R, Wijnholds J. MPP5 recruits MPP4 to the CRB1 complex in photoreceptors. Investigative Ophthalmology & Visual Science. 46: 2192-201. PMID 15914641 DOI: 10.1167/iovs.04-1417 |
1 |
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| 2005 |
van den Hurk JA, Rashbass P, Roepman R, Davis J, Voesenek KE, Arends ML, Zonneveld MN, van Roekel MH, Cameron K, Rohrschneider K, Heckenlively JR, Koenekoop RK, Hoyng CB, Cremers FP, den Hollander AI. Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis. Molecular Vision. 11: 263-73. PMID 15851977 |
1 |
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| 2004 |
den Hollander AI, Davis J, van der Velde-Visser SD, Zonneveld MN, Pierrottet CO, Koenekoop RK, Kellner U, van den Born LI, Heckenlively JR, Hoyng CB, Handford PA, Roepman R, Cremers FP. CRB1 mutation spectrum in inherited retinal dystrophies. Human Mutation. 24: 355-69. PMID 15459956 DOI: 10.1002/humu.20093 |
1 |
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| 2004 |
den Hollander AI, van Lith-Verhoeven JJ, Kersten FF, Heister JG, de Kovel CG, Deutman AF, Hoyng CB, Cremers FP. Identification of novel locus for autosomal dominant butterfly shaped macular dystrophy on 5q21.2-q33.2. Journal of Medical Genetics. 41: 699-702. PMID 15342701 DOI: 10.1136/jmg.2004.019562 |
1 |
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| 2004 |
Shi W, van den Hurk JA, Alamo-Bethencourt V, Mayer W, Winkens HJ, Ropers HH, Cremers FP, Fundele R. Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues. Developmental Biology. 272: 53-65. PMID 15242790 DOI: 10.1016/j.ydbio.2004.04.016 |
1 |
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| 2004 |
Cremers FP, Maugeri A, den Hollander AI, Hoyng CB. The expanding roles of ABCA4 and CRB1 in inherited blindness. Novartis Foundation Symposium. 255: 68-79; discussion 79. PMID 14750597 |
1 |
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| 2003 |
Luijendijk MW, van de Pol TJ, van Duijnhoven G, den Hollander AI, ten Caat J, van Limpt V, Brunner HG, Kremer H, Cremers FP. Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAs. Genomics. 82: 480-90. PMID 13679028 |
1 |
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| 2003 |
van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP. Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon. Human Genetics. 113: 268-75. PMID 12827496 DOI: 10.1007/s00439-003-0970-0 |
1 |
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| 2002 |
Cremers FP, van den Hurk JA, den Hollander AI. Molecular genetics of Leber congenital amaurosis. Human Molecular Genetics. 11: 1169-76. PMID 12015276 |
1 |
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| 2002 |
den Hollander AI, Ghiani M, de Kok YJ, Wijnholds J, Ballabio A, Cremers FP, Broccoli V. Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain. Mechanisms of Development. 110: 203-7. PMID 11744384 DOI: 10.1016/S0925-4773(01)00568-8 |
1 |
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| 2001 |
den Hollander AI, Johnson K, de Kok YJ, Klebes A, Brunner HG, Knust E, Cremers FP. CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila. Human Molecular Genetics. 10: 2767-73. PMID 11734541 |
1 |
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| 2001 |
Kirschner R, Erturk D, Zeitz C, Sahin S, Ramser J, Cremers FP, Ropers HH, Berger W. DNA sequence comparison of human and mouse retinitis pigmentosa GTPase regulator (RPGR) identifies tissue-specific exons and putative regulatory elements. Human Genetics. 109: 271-8. PMID 11702207 DOI: 10.1007/s004390100572 |
1 |
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| 2001 |
den Hollander AI, Heckenlively JR, van den Born LI, de Kok YJ, van der Velde-Visser SD, Kellner U, Jurklies B, van Schooneveld MJ, Blankenagel A, Rohrschneider K, Wissinger B, Cruysberg JR, Deutman AF, Brunner HG, Apfelstedt-Sylla E, ... ... Cremers FP, et al. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. American Journal of Human Genetics. 69: 198-203. PMID 11389483 |
1 |
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| 2000 |
Roepman R, Bernoud-Hubac N, Schick DE, Maugeri A, Berger W, Ropers HH, Cremers FP, Ferreira PA. The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. Human Molecular Genetics. 9: 2095-105. PMID 10958648 |
1 |
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| 2000 |
Cremers FP, Cremers CW, Ropers HH. The ins and outs of X-linked deafness type 3. Advances in Oto-Rhino-Laryngology. 56: 184-95. PMID 10868234 |
1 |
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| 1999 |
Yntema HG, van den Helm B, Kissing J, van Duijnhoven G, Poppelaars F, Chelly J, Moraine C, Fryns JP, Hamel BC, Heilbronner H, Pander HJ, Brunner HG, Ropers HH, Cremers FP, van Bokhoven H. A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation. Genomics. 62: 332-43. PMID 10644430 DOI: 10.1006/geno.1999.6004 |
1 |
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| 1999 |
den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, ... ... Cremers FP, et al. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). Nature Genetics. 23: 217-21. PMID 10508521 DOI: 10.1038/13848 |
1 |
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| 1999 |
Kirschner R, Rosenberg T, Schultz-Heienbrok R, Lenzner S, Feil S, Roepman R, Cremers FP, Ropers HH, Berger W. RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. Human Molecular Genetics. 8: 1571-8. PMID 10401007 |
1 |
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| 1999 |
den Hollander AI, van Driel MA, de Kok YJ, van de Pol DJ, Hoyng CB, Brunner HG, Deutman AF, Cremers FP. Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization. Genomics. 58: 240-9. PMID 10373321 DOI: 10.1006/geno.1999.5823 |
1 |
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| 1999 |
den Hollander AI, van der Velde-Visser SD, Pinckers AJ, Hoyng CB, Brunner HG, Cremers FP. Refined mapping of the gene for autosomal dominant retinitis pigmentosa (RP17) on chromosome 17q22. Human Genetics. 104: 73-6. PMID 10071195 |
1 |
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| 1998 |
Schwahn U, Lenzner S, Dong J, Feil S, Hinzmann B, van Duijnhoven G, Kirschner R, Hemberger M, Bergen AA, Rosenberg T, Pinckers AJ, Fundele R, Rosenthal A, Cremers FP, Ropers HH, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nature Genetics. 19: 327-32. PMID 9697692 DOI: 10.1038/1214 |
1 |
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| 1998 |
Cremers FP, van de Pol DJ, van Driel M, den Hollander AI, van Haren FJ, Knoers NV, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Deutman AF, Hoyng CB. Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. Human Molecular Genetics. 7: 355-62. PMID 9466990 |
1 |
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| 1997 |
de Kok YJ, Cremers CW, Ropers HH, Cremers FP. The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: identification of a somatic mosaicism for a POU3F4 missense mutation. Human Mutation. 10: 207-11. PMID 9298820 DOI: 10.1002/(SICI)1098-1004(1997)10:3<207::AID-HUMU5>3.0.CO;2-F |
1 |
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| 1997 |
van den Hurk JA, Hendriks W, van de Pol DJ, Oerlemans F, Jaissle G, Rüther K, Kohler K, Hartmann J, Zrenner E, van Bokhoven H, Wieringa B, Ropers HH, Cremers FP. Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. Human Molecular Genetics. 6: 851-8. PMID 9175730 DOI: 10.1093/hmg/6.6.851 |
1 |
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| 1997 |
van den Hurk JA, Schwartz M, van Bokhoven H, van de Pol TJ, Bogerd L, Pinckers AJ, Bleeker-Wagemakers EM, Pawlowitzki IH, Rüther K, Ropers HH, Cremers FP. Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene. Human Mutation. 9: 110-7. PMID 9067750 DOI: 10.1002/(SICI)1098-1004(1997)9:2<110::AID-HUMU2>3.0.CO;2-D |
1 |
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| 1996 |
Van Bokhoven H, Van den Hurk JA, Bogerd L, Van de Pol DJ, Ropers HH, Cremers FP. A highly polymorphic microsatellite marker located within the choroideremia gene. Ophthalmic Genetics. 17: 119-21. PMID 8905853 |
1 |
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| 1996 |
de Kok YJ, Vossenaar ER, Cremers CW, Dahl N, Laporte J, Hu LJ, Lacombe D, Fischel-Ghodsian N, Friedman RA, Parnes LS, Thorpe P, Bitner-Glindzicz M, Pander HJ, Heilbronner H, Graveline J, ... ... Cremers FP, et al. Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Human Molecular Genetics. 5: 1229-35. PMID 8872461 |
1 |
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| 1996 |
Roepman R, van Duijnhoven G, Rosenberg T, Pinckers AJ, Bleeker-Wagemakers LM, Bergen AA, Post J, Beck A, Reinhardt R, Ropers HH, Cremers FP, Berger W. Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Human Molecular Genetics. 5: 1035-41. PMID 8817343 |
1 |
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| 1996 |
van der Maarel SM, Scholten IH, Huber I, Philippe C, Suijkerbuijk RF, Gilgenkrantz S, Kere J, Cremers FP, Ropers HH. Cloning and characterization of DXS6673E, a candidate gene for X-linked mental retardation in Xq13.1. Human Molecular Genetics. 5: 887-97. PMID 8817323 |
1 |
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| 1996 |
Roepman R, Bauer D, Rosenberg T, van Duijnhoven G, van de Vosse E, Platzer M, Rosenthal A, Ropers HH, Cremers FP, Berger W. Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP). Human Molecular Genetics. 5: 827-33. PMID 8776599 |
1 |
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| 1995 |
de Kok YJ, Merkx GF, van der Maarel SM, Huber I, Malcolm S, Ropers HH, Cremers FP. A duplication/paracentric inversion associated with familial X-linked deafness (DFN3) suggests the presence of a regulatory element more than 400 kb upstream of the POU3F4 gene. Human Molecular Genetics. 4: 2145-50. PMID 8589693 |
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| 1995 |
de Kok YJ, van der Maarel SM, Bitner-Glindzicz M, Huber I, Monaco AP, Malcolm S, Pembrey ME, Ropers HH, Cremers FP. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science (New York, N.Y.). 267: 685-8. PMID 7839145 |
1 |
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| 1995 |
Bitner-Glindzicz M, Turnpenny P, Höglund P, Kääriäinen H, Sankila EM, van der Maarel SM, de Kok YJ, Ropers HH, Cremers FP, Pembrey M. Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3. Human Molecular Genetics. 4: 1467-9. PMID 7581392 |
1 |
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| 1995 |
Philippe C, Arnould C, Sloan F, van Bokhoven H, van der Velde-Visser SD, Chery M, Ropers HH, Gilgenkrantz S, Monaco AP, Cremers FP. A high-resolution interval map of the q21 region of the human X chromosome. Genomics. 27: 539-43. PMID 7558039 DOI: 10.1006/geno.1995.1089 |
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| 1995 |
Cremers FP, Bitner-Glindzicz M, Pembrey ME, Ropers HH. Mapping and cloning hereditary deafness genes. Current Opinion in Genetics & Development. 5: 371-5. PMID 7549433 |
1 |
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| 1994 |
Röhme D, Sidén T, van der Maarel SM, Cremers FP, Tantravahi U, Marinoni JC, Ropers HH, Schwartz CE. Radiation hybrids for the proximal long arm of the X chromosome and their use in the derivation of an ordered set of cosmid markers from a defined subregion in proximal Xq13.1. Somatic Cell and Molecular Genetics. 20: 1-10. PMID 8197472 |
1 |
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| 1994 |
van Bokhoven H, van Genderen C, Ropers HH, Cremers FP. Dinucleotide repeat polymorphism within the choroideremia gene at Xq21.2. Human Molecular Genetics. 3: 1446. PMID 7987344 |
1 |
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| 1994 |
van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers HH, Cremers FP. Cloning and characterization of the human choroideremia gene. Human Molecular Genetics. 3: 1041-6. PMID 7981670 |
1 |
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| 1994 |
Bitner-Glindzicz M, de Kok Y, Summers D, Huber I, Cremers FP, Ropers HH, Reardon W, Pembrey ME, Malcolm S. Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families. Journal of Medical Genetics. 31: 916-21. PMID 7891371 |
1 |
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| 1993 |
Traupe H, Vetter U, Happle R, Fisher LW, Cremers FP, Landy SJ, Pankau R, Ropers HH. Exclusion of the biglycan (BGN) gene as a candidate gene for the Happle syndrome, employing an intragenic single-strand conformational polymorphism. Human Genetics. 91: 89-90. PMID 8454295 |
1 |
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| 1993 |
Philippe C, Cremers FP, Chery M, Bach I, Abbadi N, Ropers HH, Gilgenkrantz S. Physical mapping of DNA markers in the q13-q22 region of the human X chromosome. Genomics. 17: 147-52. PMID 8406446 DOI: 10.1006/geno.1993.1296 |
1 |
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| 1992 |
Bach I, Robinson D, Thomas N, Ropers HH, Cremers FP. Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21. Human Genetics. 89: 620-4. PMID 1511979 DOI: 10.1007/BF00221950 |
1 |
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| 1992 |
Traupe H, Müller D, Atherton D, Kalter DC, Cremers FP, van Oost BA, Ropers HH. Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation. Human Genetics. 89: 659-65. PMID 1355069 DOI: 10.1007/BF00221958 |
1 |
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| 1992 |
Berger W, Meindl A, van de Pol TJ, Cremers FP, Ropers HH, Döerner C, Monaco A, Bergen AA, Lebo R, Warburgh M. Isolation of a candidate gene for Norrie disease by positional cloning. Nature Genetics. 2: 84. PMID 1303256 DOI: 10.1038/ng0992-84 |
1 |
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| 1992 |
Berger W, Meindl A, van de Pol TJ, Cremers FP, Ropers HH, Döerner C, Monaco A, Bergen AA, Lebo R, Warburg M. Isolation of a candidate gene for Norrie disease by positional cloning. Nature Genetics. 1: 199-203. PMID 1303235 DOI: 10.1038/ng0692-199 |
1 |
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| 1990 |
Cremers FP, Sankila EM, Brunsmann F, Jay M, Jay B, Wright A, Pinckers AJ, Schwartz M, van de Pol DJ, Wieringa B. Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases. American Journal of Human Genetics. 47: 622-8. PMID 2220804 |
1 |
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| 1990 |
Cremers FP, van de Pol DJ, van Kerkhoff LP, Wieringa B, Ropers HH. Cloning of a gene that is rearranged in patients with choroideraemia. Nature. 347: 674-7. PMID 2215697 DOI: 10.1038/347674a0 |
1 |
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| 1990 |
Cremers FP, Brunsmann F, Berger W, van Kerkhoff EP, van de Pol TJ, Wieringa B, Pawlowitzki IH, Ropers HH. Cloning of the breakpoints of a deletion associated with choroidermia. Human Genetics. 86: 61-4. PMID 1979308 |
1 |
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| 1990 |
van de Pol TJ, Cremers FP, Brohet RM, Wieringa B, Ropers HH. Derivation of clones from the choroideremia locus by preparative field inversion gel electrophoresis. Nucleic Acids Research. 18: 725-31. PMID 1969148 |
1 |
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| 1989 |
Cremers FP, van de Pol DJ, Diergaarde PJ, Wieringa B, Nussbaum RL, Schwartz M, Ropers HH. Physical fine mapping of the choroideremia locus using Xq21 deletions associated with complex syndromes. Genomics. 4: 41-6. PMID 2914708 |
1 |
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| 1989 |
Cremers FP, van de Pol DJ, Wieringa B, Collins FS, Sankila EM, Siu VM, Flintoff WF, Brunsmann F, Blonden LA, Ropers HH. Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia. Proceedings of the National Academy of Sciences of the United States of America. 86: 7510-4. PMID 2798422 |
1 |
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| 1988 |
Cremers FP, van de Pol TJ, Wieringa B, Hofker MH, Pearson PL, Pfeiffer RA, Mikkelsen M, Tabor A, Ropers HH. Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq. American Journal of Human Genetics. 43: 452-61. PMID 3177387 |
1 |
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| 1987 |
Cremers FP, Brunsmann F, van de Pol TJ, Pawlowitzki IH, Paulsen K, Wieringa B, Ropers HH. Deletion of the DXS165 locus in patients with classical choroideremia. Clinical Genetics. 32: 421-3. PMID 3481306 |
1 |
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| 1987 |
Cremers FP, Pfeiffer RA, van de Pol TJ, Hofker MH, Kruse TA, Wieringa B, Ropers HH. An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region. Human Genetics. 77: 23-7. PMID 3476455 |
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