| Year |
Citation |
Score |
| 2022 |
Yahya S, Smith CE, Poulter JA, McKibbin M, Arno G, Ellingford J, Kämpjärvi K, Khan MI, Cremers FP, Hardcastle AJ, Castle B, Steel DHW, Webster AR, Black GC, El-Asrag ME, et al. Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene. Ophthalmology. PMID 35934205 DOI: 10.1016/j.ophtha.2022.07.023 |
0.377 |
|
| 2017 |
Weisz Hubshman M, Broekman S, van Wijk E, Cremers F, Abu-Diab A, Samer K, Tzur S, Lagovsky I, Smirin-Yosef P, Sharon D, Haer-Wigman L, Banin E, Basel-Vanagaite L, de Vrieze E. Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa. Human Molecular Genetics. PMID 29272404 DOI: 10.1093/Hmg/Ddx428 |
0.521 |
|
| 2017 |
Ghofrani M, Yahyaei M, Brunner HG, Cremers FP, Movasat M, Imran Khan M, Keramatipour M. Homozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Cumbs homologue 1) Mutations in Iranian Retinal Degeneration Families Iranian Biomedical Journal. PMID 28460491 DOI: 10.18869/Acadpub.Ibj.21.5.294 |
0.625 |
|
| 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 |
0.343 |
|
| 2017 |
Haer-Wigman L, van Zelst-Stams WA, Pfundt R, van den Born LI, Klaver CC, Verheij JB, Hoyng CB, Breuning MH, Boon CJ, Kievit AJ, Verhoeven VJ, Pott JW, Sallevelt SC, van Hagen JM, Plomp AS, ... ... Cremers FP, et al. Diagnostic exome sequencing in 266 Dutch patients with visual impairment. European Journal of Human Genetics : Ejhg. PMID 28224992 DOI: 10.1038/Ejhg.2017.9 |
0.439 |
|
| 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 |
0.381 |
|
| 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 |
0.539 |
|
| 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 |
0.42 |
|
| 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 |
0.52 |
|
| 2016 |
Burin-des-Roziers C, Rothschild PR, Layet V, Chen JM, Ghiotti T, Leroux C, Cremers FP, Brézin AP, Valleix S. Deletions Overlapping VCAN Exon 8 are New Molecular Defects for Wagner Disease. Human Mutation. PMID 27667122 DOI: 10.1002/Humu.23124 |
0.484 |
|
| 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 |
0.38 |
|
| 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 |
0.499 |
|
| 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 |
0.451 |
|
| 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 |
0.443 |
|
| 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 |
0.434 |
|
| 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 |
0.372 |
|
| 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 |
0.383 |
|
| 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 |
0.425 |
|
| 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 |
0.502 |
|
| 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 |
0.546 |
|
| 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 |
0.503 |
|
| 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 |
0.437 |
|
| 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 |
0.54 |
|
| 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 |
0.504 |
|
| 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 |
0.35 |
|
| 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 |
0.502 |
|
| 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 |
0.322 |
|
| 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 |
0.455 |
|
| 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 |
0.479 |
|
| 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 |
0.543 |
|
| 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 |
0.371 |
|
| 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 |
0.314 |
|
| 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 |
0.406 |
|
| 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 |
0.445 |
|
| 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 |
0.428 |
|
| 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 |
0.557 |
|
| 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 |
0.356 |
|
| 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 |
0.415 |
|
| 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 |
0.413 |
|
| 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 |
0.448 |
|
| 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 |
0.489 |
|
| 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 |
0.544 |
|
| 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 |
0.493 |
|
| 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 |
0.38 |
|
| 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 |
0.413 |
|
| 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 |
0.416 |
|
| 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 |
0.561 |
|
| 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 |
0.445 |
|
| 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 |
0.474 |
|
| 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 |
0.55 |
|
| 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 |
0.526 |
|
| 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 |
0.494 |
|
| 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 |
0.457 |
|
| 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 |
0.494 |
|
| 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 |
0.468 |
|
| 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 |
0.352 |
|
| 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 |
0.556 |
|
| 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 |
0.542 |
|
| 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 |
0.481 |
|
| 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 |
0.397 |
|
| 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 |
0.338 |
|
| 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 |
0.479 |
|
| 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 |
0.481 |
|
| 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 |
0.459 |
|
| 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 |
0.52 |
|
| 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 |
0.427 |
|
| 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 |
0.525 |
|
| 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 |
0.381 |
|
| 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 |
0.412 |
|
| 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 |
0.398 |
|
| 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 |
0.455 |
|
| 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 |
0.527 |
|
| 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 |
0.463 |
|
| 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 |
0.366 |
|
| 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 |
0.495 |
|
| 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 |
0.385 |
|
| 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 |
0.484 |
|
| 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 |
0.528 |
|
| 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 |
0.34 |
|
| 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 |
0.501 |
|
| 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 |
0.49 |
|
| 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 |
0.544 |
|
| 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 |
0.545 |
|
| 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 |
0.389 |
|
| 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 |
0.412 |
|
| 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 |
0.526 |
|
| 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 |
0.573 |
|
| 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 |
0.505 |
|
| 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 |
0.373 |
|
| 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 |
0.472 |
|
| 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 |
0.446 |
|
| 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 |
0.526 |
|
| 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 |
0.55 |
|
| 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 |
0.383 |
|
| 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 |
0.46 |
|
| 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 |
0.547 |
|
| 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 |
0.53 |
|
| 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 |
0.412 |
|
| 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 |
0.557 |
|
| 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 |
0.562 |
|
| 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 |
0.508 |
|
| 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 |
0.558 |
|
| 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 |
0.523 |
|
| 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 |
0.554 |
|
| 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 |
0.445 |
|
| 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 |
0.533 |
|
| 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 |
0.493 |
|
| 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 |
0.473 |
|
| 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 |
0.522 |
|
| 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 |
0.453 |
|
| 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 |
0.443 |
|
| 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 |
0.559 |
|
| 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 |
0.521 |
|
| 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 |
0.453 |
|
| 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 |
0.484 |
|
| 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 |
0.498 |
|
| 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 |
0.436 |
|
| 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 |
0.509 |
|
| 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 |
0.53 |
|
| 2009 |
Kremer H, Cremers FP. Positional cloning of deafness genes. Methods in Molecular Biology (Clifton, N.J.). 493: 215-38. PMID 18839350 DOI: 10.1007/978-1-59745-523-7_13 |
0.455 |
|
| 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 |
0.601 |
|
| 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 |
0.574 |
|
| 2008 |
Neidhardt J, Glaus E, Lorenz B, Netzer C, Li Y, Schambeck M, Wittmer M, Feil S, Kirschner-Schwabe R, Rosenberg T, Cremers FP, Bergen AA, Barthelmes D, Baraki H, Schmid F, et al. Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing. Molecular Vision. 14: 1081-93. PMID 18552978 |
0.473 |
|
| 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 |
0.375 |
|
| 2008 |
Mukhopadhyay A, Hogewind BF, Theelen T, Cremers FP, Hoyng CB. Novel human pathological mutations. Gene symbol: MYOC. Disease: primary open angle glaucoma. Human Genetics. 122: 553. PMID 18383598 |
0.372 |
|
| 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 |
0.521 |
|
| 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 |
0.476 |
|
| 2008 |
Collin RW, Chellappa R, Pauw RJ, Vriend G, Oostrik J, van Drunen W, Huygen PL, Admiraal R, Hoefsloot LH, Cremers FP, Xiang M, Cremers CW, Kremer H. Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding. Human Mutation. 29: 545-54. PMID 18228599 DOI: 10.1002/Humu.20693 |
0.51 |
|
| 2008 |
Collin RW, Kalay E, Tariq M, Peters T, van der Zwaag B, Venselaar H, Oostrik J, Lee K, Ahmed ZM, Caylan R, Li Y, Spierenburg HA, Eyupoglu E, Heister A, Riazuddin S, ... ... Cremers FP, et al. Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35. American Journal of Human Genetics. 82: 125-38. PMID 18179891 DOI: 10.1016/J.Ajhg.2007.09.008 |
0.643 |
|
| 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 |
0.586 |
|
| 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 |
0.539 |
|
| 2007 |
Hogewind BF, Gaplovska-Kysela K, Theelen T, Cremers FP, Yam GH, Hoyng CB, Mukhopadhyay A. Identification and functional characterization of a novel MYOC mutation in two primary open angle glaucoma families from The Netherlands. Molecular Vision. 13: 1793-801. PMID 17960117 |
0.415 |
|
| 2007 |
Yzer S, van den Born LI, Zonneveld MN, Lopez I, Ayyagari R, Teye-Botchway L, Mota-Vieira L, Cremers FP, Koenekoop RK. Molecular and phenotypic analysis of a family with autosomal recessive cone-rod dystrophy and Stargardt disease. Molecular Vision. 13: 1568-72. PMID 17893657 |
0.438 |
|
| 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 |
0.503 |
|
| 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 |
0.46 |
|
| 2007 |
Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, ... Cremers FP, et al. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nature Genetics. 39: 882-8. PMID 17558407 DOI: 10.1038/Ng2069 |
0.595 |
|
| 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 |
0.557 |
|
| 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 |
0.474 |
|
| 2007 |
van den Hurk JA, Meij IC, Seleme MC, Kano H, Nikopoulos K, Hoefsloot LH, Sistermans EA, de Wijs IJ, Mukhopadhyay A, Plomp AS, de Jong PT, Kazazian HH, Cremers FP. L1 retrotransposition can occur early in human embryonic development. Human Molecular Genetics. 16: 1587-92. PMID 17483097 DOI: 10.1093/Hmg/Ddm108 |
0.315 |
|
| 2007 |
Cremers FP, Kimberling WJ, Külm M, de Brouwer AP, van Wijk E, te Brinke H, Cremers CW, Hoefsloot LH, Banfi S, Simonelli F, Fleischhauer JC, Berger W, Kelley PM, Haralambous E, Bitner-Glindzicz M, et al. Development of a genotyping microarray for Usher syndrome. Journal of Medical Genetics. 44: 153-60. PMID 16963483 DOI: 10.1136/Jmg.2006.044784 |
0.402 |
|
| 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 |
0.511 |
|
| 2006 |
Yzer S, Fishman GA, Racine J, Al-Zuhaibi S, Chakor H, Dorfman A, Szlyk J, Lachapelle P, van den Born LI, Allikmets R, Lopez I, Cremers FP, Koenekoop RK. CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis. Investigative Ophthalmology & Visual Science. 47: 3736-44. PMID 16936081 DOI: 10.1167/Iovs.05-1637 |
0.511 |
|
| 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 |
0.652 |
|
| 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 |
0.648 |
|
| 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 |
0.458 |
|
| 2005 |
Roepman R, Letteboer SJ, Arts HH, van Beersum SE, Lu X, Krieger E, Ferreira PA, Cremers FP. Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. Proceedings of the National Academy of Sciences of the United States of America. 102: 18520-5. PMID 16339905 DOI: 10.1073/Pnas.0505774102 |
0.478 |
|
| 2005 |
Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FP, Cremers CW, Brunner HG, de Brouwer AP, Kremer H. Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss Human Mutation.. 26: 591. PMID 16287143 DOI: 10.1002/Humu.9384 |
0.628 |
|
| 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 |
0.423 |
|
| 2005 |
Zeitz C, van Genderen M, Neidhardt J, Luhmann UF, Hoeben F, Forster U, Wycisk K, Mátyás G, Hoyng CB, Riemslag F, Meire F, Cremers FP, Berger W. Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. Investigative Ophthalmology & Visual Science. 46: 4328-35. PMID 16249515 DOI: 10.1167/iovs.05-0526 |
0.403 |
|
| 2005 |
Kemperman MH, De Leenheer EM, Huygen PL, van Duijnhoven G, Morton CC, Robertson NG, Cremers FP, Kremer H, Cremers CW. Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation. Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology. 26: 926-33. PMID 16151339 DOI: 10.1097/01.Mao.0000185062.12458.87 |
0.399 |
|
| 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 |
0.434 |
|
| 2005 |
de Brouwer AP, Kunst HP, Krebsova A, van Asseldonk K, Reis A, Snoeckx RL, Van Camp G, Cremers CW, Cremers FP, Kremer H. Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3. American Journal of Medical Genetics. Part A. 137: 41-6. PMID 16007628 DOI: 10.1002/Ajmg.A.30844 |
0.47 |
|
| 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 |
0.398 |
|
| 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 |
0.481 |
|
| 2005 |
Zeitz C, Minotti R, Feil S, Mátyás G, Cremers FP, Hoyng CB, Berger W. Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness. Molecular Vision. 11: 179-83. PMID 15761389 |
0.342 |
|
| 2005 |
Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jägle H, Rosenberg T, Kellner U, Lorenz B, Salati R, Jurklies B, Farkas A, Andreasson S, Weleber RG, Jacobson SG, ... ... Cremers FP, et al. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. European Journal of Human Genetics : Ejhg. 13: 302-8. PMID 15657609 DOI: 10.1038/Sj.Ejhg.5201269 |
0.527 |
|
| 2004 |
Klevering BJ, Deutman AF, Maugeri A, Cremers FP, Hoyng CB. The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. Graefe's Archive For Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie. 243: 90-100. PMID 15614537 DOI: 10.1007/S00417-004-1079-4 |
0.528 |
|
| 2004 |
Maugeri A, Meire F, Hoyng CB, Vink C, Van Regemorter N, Karan G, Yang Z, Cremers FP, Zhang K. A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy. Investigative Ophthalmology & Visual Science. 45: 4263-7. PMID 15557430 DOI: 10.1167/Iovs.04-0078 |
0.538 |
|
| 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 |
0.527 |
|
| 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 |
0.587 |
|
| 2004 |
Pennings RJ, Te Brinke H, Weston MD, Claassen A, Orten DJ, Weekamp H, Van Aarem A, Huygen PL, Deutman AF, Hoefsloot LH, Cremers FP, Cremers CW, Kimberling WJ, Kremer H. USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. Human Mutation. 24: 185. PMID 15241801 DOI: 10.1002/Humu.9259 |
0.482 |
|
| 2004 |
Luijendijk MW, Van Wijk E, Bischoff AM, Krieger E, Huygen PL, Pennings RJ, Brunner HG, Cremers CW, Cremers FP, Kremer H. Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). Human Genetics. 115: 149-56. PMID 15221449 DOI: 10.1007/S00439-004-1137-3 |
0.585 |
|
| 2004 |
Kemperman MH, De Leenheer EM, Huygen PL, van Wijk E, van Duijnhoven G, Cremers FP, Kremer H, Cremers CW. A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment. Archives of Otolaryngology--Head & Neck Surgery. 130: 281-8. PMID 15023833 DOI: 10.1001/Archotol.130.3.281 |
0.306 |
|
| 2004 |
Klevering BJ, Maugeri A, Wagner A, Go SL, Vink C, Cremers FP, Hoyng CB. Three families displaying the combination of Stargardt's disease with cone-rod dystrophy or retinitis pigmentosa. Ophthalmology. 111: 546-53. PMID 15019334 DOI: 10.1016/J.Ophtha.2003.06.010 |
0.383 |
|
| 2004 |
van Wijk E, Pennings RJ, te Brinke H, Claassen A, Yntema HG, Hoefsloot LH, Cremers FP, Cremers CW, Kremer H. Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. American Journal of Human Genetics. 74: 738-44. PMID 15015129 DOI: 10.1086/383096 |
0.539 |
|
| 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 |
0.447 |
|
| 2004 |
van Lith-Verhoeven JJ, Hoyng CB, van den Helm B, Deutman AF, Brink HM, Kemperman MH, de Jong WH, Kremer H, Cremers FP. The benign concentric annular macular dystrophy locus maps to 6p12.3-q16. Investigative Ophthalmology & Visual Science. 45: 30-5. PMID 14691150 DOI: 10.1167/Iovs.03-0392 |
0.388 |
|
| 2004 |
Bischoff AM, Luijendijk MW, Huygen PL, van Duijnhoven G, De Leenheer EM, Oudesluijs GG, Van Laer L, Cremers FP, Cremers CW, Kremer H. A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation. Audiology & Neuro-Otology. 9: 34-46. PMID 14676472 DOI: 10.1159/000074185 |
0.354 |
|
| 2003 |
van Wijk E, Krieger E, Kemperman MH, De Leenheer EM, Huygen PL, Cremers CW, Cremers FP, Kremer H. A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). Journal of Medical Genetics. 40: 879-84. PMID 14684684 DOI: 10.1136/jmg.40.12.879 |
0.4 |
|
| 2003 |
van Lith-Verhoeven JJ, van den Helm B, Deutman AF, Bergen AA, Cremers FP, Hoyng CB, de Jong PT. A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene. Archives of Ophthalmology (Chicago, Ill. : 1960). 121: 1452-7. PMID 14557182 DOI: 10.1001/Archopht.121.10.1452 |
0.498 |
|
| 2003 |
Jaakson K, Zernant J, Külm M, Hutchinson A, Tonisson N, Glavac D, Ravnik-Glavac M, Hawlina M, Meltzer MR, Caruso RC, Testa F, Maugeri A, Hoyng CB, Gouras P, Simonelli F, ... ... Cremers FP, et al. Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Human Mutation. 22: 395-403. PMID 14517951 DOI: 10.1002/humu.10263 |
0.354 |
|
| 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 DOI: 10.1016/S0888-7543(03)00150-2 |
0.508 |
|
| 2003 |
Yzer S, van den Born LI, Schuil J, Kroes HY, van Genderen MM, Boonstra FN, van den Helm B, Brunner HG, Koenekoop RK, Cremers FP. A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population. Journal of Medical Genetics. 40: 709-13. PMID 12960219 DOI: 10.1136/Jmg.40.9.709 |
0.591 |
|
| 2003 |
Go SL, Maugeri A, Mulder JJ, van Driel MA, Cremers FP, Hoyng CB. Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. Investigative Ophthalmology & Visual Science. 44: 4035-43. PMID 12939326 DOI: 10.1167/Iovs.02-0736 |
0.515 |
|
| 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 |
0.732 |
|
| 2003 |
de Brouwer AP, Pennings RJ, Roeters M, Van Hauwe P, Astuto LM, Hoefsloot LH, Huygen PL, van den Helm B, Deutman AF, Bork JM, Kimberling WJ, Cremers FP, Cremers CW, Kremer H. Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family. Human Genetics. 112: 156-63. PMID 12522556 DOI: 10.1007/s00439-002-0833-0 |
0.367 |
|
| 2002 |
Klevering BJ, Blankenagel A, Maugeri A, Cremers FP, Hoyng CB, Rohrschneider K. Phenotypic spectrum of autosomal recessive cone-rod dystrophies caused by mutations in the ABCA4 (ABCR) gene. Investigative Ophthalmology & Visual Science. 43: 1980-5. PMID 12037008 |
0.479 |
|
| 2002 |
Cremers FP, van den Hurk JA, den Hollander AI. Molecular genetics of Leber congenital amaurosis. Human Molecular Genetics. 11: 1169-76. PMID 12015276 DOI: 10.1093/Hmg/11.10.1169 |
0.474 |
|
| 2002 |
Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, Brunner HG, Hoyng CB, Metspalu A, ... ... Cremers FP, et al. The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe. European Journal of Human Genetics : Ejhg. 10: 197-203. PMID 11973624 DOI: 10.1038/Sj.Ejhg.5200784 |
0.565 |
|
| 2002 |
van Lith-Verhoeven JJ, van der Velde-Visser SD, Sohocki MM, Deutman AF, Brink HM, Cremers FP, Hoyng CB. Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13). Ophthalmic Genetics. 23: 1-12. PMID 11910553 DOI: 10.1076/opge.23.1.1.2206 |
0.439 |
|
| 2002 |
Klevering BJ, van Driel M, van Hogerwou AJ, van De Pol DJ, Deutman AF, Pinckers AJ, Cremers FP, Hoyng CB. Central areolar choroidal dystrophy associated with dominantly inherited drusen. The British Journal of Ophthalmology. 86: 91-6. PMID 11801511 DOI: 10.1136/Bjo.86.1.91 |
0.404 |
|
| 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 |
0.351 |
|
| 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 DOI: 10.1093/Hmg/10.24.2767 |
0.565 |
|
| 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 |
0.606 |
|
| 2001 |
Wissinger B, Gamer D, Jägle H, Giorda R, Marx T, Mayer S, Tippmann S, Broghammer M, Jurklies B, Rosenberg T, Jacobson SG, Sener EC, Tatlipinar S, Hoyng CB, Castellan C, ... ... Cremers FP, et al. CNGA3 mutations in hereditary cone photoreceptor disorders. American Journal of Human Genetics. 69: 722-37. PMID 11536077 DOI: 10.1086/323613 |
0.514 |
|
| 2001 |
McKie AB, McHale JC, Keen TJ, Tarttelin EE, Goliath R, van Lith-Verhoeven JJ, Greenberg J, Ramesar RS, Hoyng CB, Cremers FP, Mackey DA, Bhattacharya SS, Bird AC, Markham AF, Inglehearn CF. Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Human Molecular Genetics. 10: 1555-62. PMID 11468273 DOI: 10.1093/Hmg/10.15.1555 |
0.581 |
|
| 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 DOI: 10.1086/321263 |
0.643 |
|
| 2001 |
Shah ZH, Toompuu M, Hakkinen T, Rovio AT, van Ravenswaay C, De Leenheer EM, Smith RJ, Cremers FP, Cremers CW, Jacobs HT. Novel coding-region polymorphisms in mitochondrial seryl-tRNA synthetase (SARSM) and mitoribosomal protein S12 (RPMS12) genes in DFNA4 autosomal dominant deafness families. Human Mutation. 17: 433-4. PMID 11317363 DOI: 10.1002/Humu.1123 |
0.512 |
|
| 2000 |
Maugeri A, Klevering BJ, Rohrschneider K, Blankenagel A, Brunner HG, Deutman AF, Hoyng CB, Cremers FP. Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. American Journal of Human Genetics. 67: 960-6. PMID 10958761 DOI: 10.1086/303079 |
0.669 |
|
| 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 DOI: 10.1093/Hmg/9.14.2095 |
0.656 |
|
| 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 |
0.409 |
|
| 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 |
0.685 |
|
| 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 |
0.678 |
|
| 1999 |
Bom SJ, Kemperman MH, De Kok YJ, Huygen PL, Verhagen WI, Cremers FP, Cremers CW. Progressive cochleovestibular impairment caused by a point mutation in the COCH gene at DFNA9. The Laryngoscope. 109: 1525-30. PMID 10499067 DOI: 10.1097/00005537-199909000-00031 |
0.414 |
|
| 1999 |
Klevering BJ, van Driel M, van de Pol DJ, Pinckers AJ, Cremers FP, Hoyng CB. Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene. The British Journal of Ophthalmology. 83: 914-8. PMID 10413692 DOI: 10.1136/bjo.83.8.914 |
0.441 |
|
| 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 DOI: 10.1093/Hmg/8.8.1571 |
0.641 |
|
| 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 |
0.518 |
|
| 1999 |
Maugeri A, van Driel MA, van de Pol DJ, Klevering BJ, van Haren FJ, Tijmes N, Bergen AA, Rohrschneider K, Blankenagel A, Pinckers AJ, Dahl N, Brunner HG, Deutman AF, Hoyng CB, Cremers FP. The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. American Journal of Human Genetics. 64: 1024-35. PMID 10090887 DOI: 10.1086/302323 |
0.565 |
|
| 1999 |
Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, et al. Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nature Genetics. 21: 302-4. PMID 10080184 DOI: 10.1038/6821 |
0.618 |
|
| 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 DOI: 10.1007/S004390050912 |
0.638 |
|
| 1999 |
de Kok YJ, Bom SJ, Brunt TM, Kemperman MH, van Beusekom E, van der Velde-Visser SD, Robertson NG, Morton CC, Huygen PL, Verhagen WI, Brunner HG, Cremers CW, Cremers FP. A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. Human Molecular Genetics. 8: 361-6. PMID 9931344 DOI: 10.1093/Hmg/8.2.361 |
0.663 |
|
| 1999 |
van Driel MA, Maugeri A, Klevering BJ, Hoyng CB, Cremers FP. ABCR unites what ophthalmologists divide(s) Ophthalmic Genetics. 19: 117-22. PMID 9810566 DOI: 10.1076/OPGE.19.3.117.2187 |
0.432 |
|
| 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 |
0.666 |
|
| 1998 |
Gerber S, Rozet JM, van de Pol TJ, Hoyng CB, Munnich A, Blankenagel A, Kaplan J, Cremers FP. Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. Genomics. 48: 139-42. PMID 9503029 DOI: 10.1006/GENO.1997.5164 |
0.429 |
|
| 1998 |
Cremers FP. Genetic causes of hearing loss. Current Opinion in Neurology. 11: 11-6. PMID 9484611 DOI: 10.1097/00019052-199802000-00003 |
0.397 |
|
| 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 |
0.455 |
|
| 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 |
0.635 |
|
| 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 |
0.728 |
|
| 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 |
0.669 |
|
| 1997 |
van Bokhoven H, Rawson RB, Merkx GF, Cremers FP, Seabra MC. cDNA cloning and chromosomal localization of the genes encoding the alpha- and beta-subunits of human Rab geranylgeranyl transferase: the 3' end of the alpha-subunit gene overlaps with the transglutaminase 1 gene promoter. Genomics. 38: 133-40. PMID 8954794 DOI: 10.1006/Geno.1996.0608 |
0.413 |
|
| 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 DOI: 10.3109/13816819609057115 |
0.575 |
|
| 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 DOI: 10.1093/Hmg/5.9.1229 |
0.744 |
|
| 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 DOI: 10.1093/Hmg/5.7.1035 |
0.689 |
|
| 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 DOI: 10.1093/Hmg/5.7.887 |
0.621 |
|
| 1996 |
Hoyng CB, Poppelaars F, van de Pol TJ, Kremer H, Pinckers AJ, Deutman AF, Cremers FP. Genetic fine mapping of the gene for recessive Stargardt disease. Human Genetics. 98: 500-4. PMID 8792830 DOI: 10.1007/s004390050247 |
0.355 |
|
| 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 DOI: 10.1093/Hmg/5.6.827 |
0.663 |
|
| 1996 |
Ponjavic V, Abrahamson M, Andréasson S, Van Bokhoven H, Cremers FP, Ehinger B, Fex G. Phenotype variations within a choroideremia family lacking the entire CHM gene. Ophthalmic Genetics. 16: 143-50. PMID 8749050 DOI: 10.3109/13816819509057855 |
0.538 |
|
| 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 |
0.61 |
|
| 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 DOI: 10.1126/Science.7839145 |
0.669 |
|
| 1995 |
Berger W, van Duijnhoven G, Pinckers A, Smits A, Ropers HH, Cremers F. Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB). Human Genetics. 95: 67-70. PMID 7814029 DOI: 10.1007/BF00225077 |
0.45 |
|
| 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 |
0.523 |
|
| 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 |
0.541 |
|
| 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 DOI: 10.1016/0959-437X(95)80053-0 |
0.589 |
|
| 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 DOI: 10.1007/Bf02257481 |
0.518 |
|
| 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 DOI: 10.1093/Hmg/3.8.1446 |
0.573 |
|
| 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 DOI: 10.1093/Hmg/3.7.1041 |
0.661 |
|
| 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 |
0.639 |
|
| 1993 |
Schwartz M, Rosenberg T, van den Hurk JA, van de Pol DJ, Cremers FP. Identification of mutations in Danish choroideremia families. Human Mutation. 2: 43-7. PMID 8477262 DOI: 10.1002/Humu.1380020108 |
0.522 |
|
| 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 DOI: 10.1007/Bf00230233 |
0.582 |
|
| 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 |
0.55 |
|
| 1993 |
Berger W, Meindl A, de Leeuw B, de Roos A, van de Pol TJ, Meitinger T, van der Velde-Visser SD, Achatz H, Geurts van Kessel A, Cremers FP. Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome. Human Genetics. 90: 243-6. PMID 1487237 DOI: 10.1007/Bf00220070 |
0.42 |
|
| 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 |
0.606 |
|
| 1992 |
Molloy CM, van de Pol TJ, Brohet RM, Ropers HH, Cremers FP. Three RFLPs for pZ11 (DXS540) in the choroideremia gene at Xq21.2. Nucleic Acids Research. 20: 1434. PMID 1373238 DOI: 10.1093/NAR/20.6.1434 |
0.535 |
|
| 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 |
0.645 |
|
| 1992 |
Berger W, van de Pol D, Warburg M, Gal A, Bleeker-Wagemakers L, de Silva H, Meindl A, Meitinger T, Cremers F, Ropers HH. Mutations in the candidate gene for Norrie disease. Human Molecular Genetics. 1: 461-5. PMID 1307245 DOI: 10.1093/Hmg/1.7.461 |
0.668 |
|
| 1992 |
Meindl A, Berger W, Meitinger T, van de Pol D, Achatz H, Dörner C, Haasemann M, Hellebrand H, Gal A, Cremers F. Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. Nature Genetics. 2: 139-43. PMID 1303264 DOI: 10.1038/Ng1092-139 |
0.491 |
|
| 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/Ng0992-84A |
0.506 |
|
| 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 |
0.393 |
|
| 1992 |
Sankila EM, Tolvanen R, van den Hurk JA, Cremers FP, de la Chapelle A. Aberrant splicing of the CHM gene is a significant cause of choroideremia. Nature Genetics. 1: 109-13. PMID 1302003 DOI: 10.1038/Ng0592-109 |
0.562 |
|
| 1992 |
Cremers FP, Molloy CM, van de Pol DJ, van den Hurk JA, Bach I, Geurts van Kessel AH, Ropers HH. An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q. Human Molecular Genetics. 1: 71-5. PMID 1301160 DOI: 10.1093/Hmg/1.2.71 |
0.608 |
|
| 1992 |
Cremers F, v.d. Hurk J, Rüther K, Brunsmann F, v.d. Pol D, Boersma C, Burggraaf E, Pawlowitzki I, Zrenner E, Ropers H. Mutation spectrum of the choroideremia gene and cloning of a highly homologous gene from chromosome 1 Experimental Eye Research. 55: 16. DOI: 10.1016/0014-4835(92)90269-X |
0.536 |
|
| 1991 |
Sankila EM, Sistonen P, Cremers F, de la Chapelle A. Choroideremia: linkage analysis with physically mapped close DNA-markers. Human Genetics. 87: 348-52. PMID 1677924 DOI: 10.1007/Bf00200918 |
0.367 |
|
| 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 |
0.57 |
|
| 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 |
0.739 |
|
| 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 DOI: 10.1007/Bf00205174 |
0.712 |
|
| 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 DOI: 10.1093/NAR/18.4.725 |
0.654 |
|
| 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 DOI: 10.1016/0888-7543(89)90312-1 |
0.695 |
|
| 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 DOI: 10.1073/Pnas.86.19.7510 |
0.699 |
|
| 1989 |
den Dunnen JT, van Neck JW, Cremers FP, Lubsen NH, Schoenmakers JG. Nucleotide sequence of the rat gamma-crystallin gene region and comparison with an orthologous human region. Gene. 78: 201-13. PMID 2777080 DOI: 10.1016/0378-1119(89)90223-0 |
0.354 |
|
| 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 |
0.591 |
|
| 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 |
0.586 |
|
| 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 DOI: 10.1007/Bf00284707 |
0.666 |
|
| 1985 |
den Dunnen JT, Moormann RJ, Cremers FP, Schoenmakers JG. Two human gamma-crystallin genes are linked and riddled with Alu-repeats. Gene. 38: 197-204. PMID 4065573 DOI: 10.1016/0378-1119(85)90218-5 |
0.46 |
|
| Show low-probability matches. |
