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Issue Date	Title	Author(s)
2011	Identification of novel mutations in pakistani families with autosomal recessive retinitis pigmentosa	Azam, M.; Collin, R.W.J.; Malik, A.; Khan, M.I.; Shah, S.T.; Shah, A.A.; Hussain, A.; Sadeque, A.; Arimadyo, K.; Ajmal, M.; Azam, A.; Qureshi, N.; Bokhari, H.; Strom, T.M.; Cremers, F.P.M.; Qamar, R.; Hollander, A.I. den
2011	Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene	Nikopoulos, K.; Schrauwen, I.; Simon, M.; Collin, R.W.J.; Veckeneer, M.; Keymolen, K.; Camp, G. van; Cremers, F.P.M.; Born, L.I. van den
2011	Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1	Heer, A.M. de; Collin, R.W.J.; Huygen, P.L.M.; Schraders, M.; Oostrik, J.; Rouwette, M.; Kunst, H.P.M.; Kremer, J.M.J.; Cremers, C.W.R.J.
2011	High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population	Collin, R.W.J.; Born, L.I. van den; Klevering, B.J.; Castro-Miro, M. de; Littink, K.W.; Arimadyo, K.; Azam, M.; Yazar, V.; Zonneveld, M.N.; Paun, C.C.; Siemiatkowska, A.M.; Strom, T.M.; Hehir, J.Y.; Kroes, H.Y.; Faber, J.T. de; Schooneveld, M.J. van; Heckenlively, J.R.; Hoyng, C.B.; Hollander, A.I. den; Cremers, F.P.M.
2011	IQCB1 mutations in patients with leber congenital amaurosis	Estrada-Cuzcano, A.; Koenekoop, R.K.; Coppieters, F.; Kohl, S.; Lopez, I.; Collin, R.W.J.; Baere, E.B. De; Roeleveld, D.; Marek, J.; Bernd, A.; Rohrschneider, K.; Born, L.I. van den; Meire, F.; Maumenee, I.H.; Jacobson, S.G.; Hoyng, C.B.; Zrenner, E.; Cremers, F.P.M.; Hollander, A.I. den
2011	Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping	Siemiatkowska, A.M.; Arimadyo, K.; Moruz, L.M.; Astuti, G.D.; Castro-Miro, M. de; Zonneveld, M.N.; Strom, T.M.; Wijs, I.J. de; Hoefsloot, L.H.; Faradz, S.M.; Cremers, F.P.M.; Hollander, A.I. den; Collin, R.W.J.
2011	Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa	Ozgul, R.K.; Siemiatkowska, A.M.; Yucel, D.; Myers, C.A.; Collin, R.W.J.; Zonneveld, M.N.; Beryozkin, A.; Banin, E.; Hoyng, C.B.; Born, L.I. van den; Bose, R.; Shen, W.; Sharon, D.; Cremers, F.P.M.; Klevering, B.J.; Hollander, A.I. den; Corbo, J.C.
2011	CLRN1 mutations cause nonsyndromic retinitis pigmentosa	Khan, M.I.; Kersten, F.F.J.; Azam, M.; Collin, R.W.J.; Hussain, A.; Shah, S.T.; Keunen, J.E.E.; Kremer, J.M.J.; Cremers, F.P.M.; Qamar, R.; Hollander, A.I. den
2010	Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa.	Khan, M.I.; Collin, R.W.J.; Arimadyo, K.; Micheal, S.; Azam, M.; Qureshi, N.; Faradz, S.M.; Hollander, A.I. den; Qamar, R.; Cremers, F.P.M.
2010	Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy	Thiadens, A.A.H.J.; Roosing, S.; Collin, R.W.J.; Moll-Ramirez, N. van; Lith-Verhoeven, J.J. van; Schooneveld, M.J. van; Hollander, A.I. den; Born, L.I. van den; Hoyng, C.B.; Cremers, F.P.M.; Klaver, C.C.
2010	Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa.	Collin, R.W.J.; Safieh, C.; Littink, K.W.; Shalev, S.A.; Garzozi, H.J.; Rizel, L.; Abbasi, A.H.; Cremers, F.P.M.; Hollander, A.I. den; Klevering, B.J.; Ben-Yosef, T.
2010	Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.	Otto, E.A.; Hurd, T.W.; Airik, R.; Chaki, M.; Zhou, W.; Stoetzel, C.; Patil, S.B.; Levy, S.; Ghosh, A.K.; Murga-Zamalloa, C.A.; Reeuwijk, J. van; Letteboer, S.J.F.; Sang, L.; Giles, R.H.; Liu, Q.; Coene, K.L.M.; Estrada-Cuzcano, A.; Collin, R.W.J.; McLaughlin, H.M.; Held, S.; Kasanuki, J.M.; Ramaswami, G.; Conte, J.; Lopez, I.; Washburn, J.; Macdonald, J.; Hu, J.; Yamashita, Y.; Maher, E.R.; Guay-Woodford, L.M.; Neumann, H.P.; Obermuller, N.; Koenekoop, R.K.; Bergmann, C.; Bei, X.; Lewis, R.A.; Katsanis, N.; Lopes, V.; Williams, D.S.; Lyons, R.H.; Dang, C.V.; Brito, D.A.; Dias, M.B.; Zhang, X.; Cavalcoli, J.D.; Nurnberg, G.; Nurnberg, P.; Pierce, E.A.; Jackson, P.K.; Antignac, C.; Saunier, S.; Roepman, R.; Dollfus, H.; Khanna, H.; Hildebrandt, F.
2010	Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.	Bandah-Rozenfeld, D.; Collin, R.W.J.; Banin, E.; Born, L.I. van den; Coene, K.L.M.; Siemiatkowska, A.M.; Zelinger, L.; Khan, M.I.; Lefeber, D.J.; Erdinest, I.; Testa, F.; Simonelli, F.; Voesenek, K.E.J.; Blokland, E.A.W.; Strom, T.M.; Klaver, C.C.; Qamar, R.; Banfi, S.; Cremers, F.P.M.; Sharon, D.; Hollander, A.I. den
2010	Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.	Nikopoulos, K.; Gilissen, C.F.H.A.; Hoischen, A.; Nouhuys, C.E. van; Boonstra, F.N.; Blokland, E.A.W.; Arts, P.J.W.; Wieskamp, N.A.W.; Strom, T.M.; Ayuso, C.; Tilanus, M.A.D.; Bouwhuis, S.; Mukhopadhyay, A.; Scheffer, H.; Hoefsloot, L.H.; Veltman, J.A.; Cremers, F.P.M.; Collin, R.W.J.
2010	Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.	Littink, K.W.; Koenekoop, R.K.; Born, L.I. van den; Collin, R.W.J.; Moruz, L.M.; Veltman, J.A.; Roosing, S.; Zonneveld, M.N.; Omar, A.; Darvish, M.; Lopez, I.; Kroes, H.Y.; Genderen, M.M. van; Hoyng, C.B.; Rohrschneider, K.; Schooneveld, M.J. van; Cremers, F.P.M.; Hollander, A.I. den
2010	Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population.	Bandah-Rozenfeld, D.; Littink, K.W.; Ben-Yosef, T.; Strom, T.M.; Chowers, I.; Collin, R.W.J.; Hollander, A.I. den; Born, L.I. van den; Zonneveld, M.N.; Merin, S.; Banin, E.; Cremers, F.P.M.; Sharon, D.
2010	Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.	Littink, K.W.; Born, L.I. van den; Koenekoop, R.K.; Collin, R.W.J.; Zonneveld, M.N.; Blokland, E.A.W.; Khan, H.; Theelen, T.; Hoyng, C.B.; Cremers, F.P.M.; Hollander, A.I. den; Klevering, B.J.
2010	Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.	Nikopoulos, K.; Venselaar, H.; Collin, R.W.J.; Riveiro-Alvarez, R.; Boonstra, F.N.; Hooymans, J.M.; Mukhopadhyay, A.; Shears, D.; Bers, M. van; Wijs, I.J. de; Essen, A.J. van; Sijmons, R.H.; Tilanus, M.A.D.; Nouhuys, C.E. van; Ayuso, C.; Hoefsloot, L.H.; Cremers, F.P.M.
2010	Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia	Azam, M.; Collin, R.W.J.; Shah, S.T.; Shah, A.A.; Khan, M.I.; Hussain, A.; Sadeque, A.; Strom, T.M.; Thiadens, A.A.H.J.; Roosing, S.; Hollander, A.I. den; Cremers, F.P.M.; Qamar, R.
2010	A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.	Littink, K.W.; Pott, J.W.; Collin, R.W.J.; Kroes, H.Y.; Verheij, J.B.; Blokland, E.A.W.; Castro Miro, M. de; Hoyng, C.B.; Klaver, C.C.; Koenekoop, R.K.; Rohrschneider, K.; Cremers, F.P.M.; Born, L.I. van den; Hollander, A.I. den
2009	Promises and challenges of genetic therapy for blindness	Cremers, F.P.M.; Collin, R.W.J.
2009	A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.	Azam, M.; Collin, R.W.J.; Khan, M.I.; Shah, S.T.; Qureshi, N.; Ajmal, M.; Hollander, A.I. den; Qamar, R.; Cremers, F.P.M.
2009	Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3.	Drunen, F.J. van; Pauw, R.J.; Collin, R.W.J.; Kremer, H.; Huygen, P.L.M.; Cremers, C.W.R.J.
2009	Flat threshold and mid-frequency hearing impairment in a Dutch DFNA8/12 family with a novel mutation in TECTA. Some evidence for protection of the inner ear.	Heer, A.R de; Pauw, R.J.; Huygen, P.L.M.; Collin, R.W.J.; Kremer, J.M.J.; Cremers, C.W.R.J.
2009	Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.	Heer, A.M. de; Huygen, P.L.M.; Collin, R.W.J.; Kremer, H.; Cremers, C.W.R.J.
2009	Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.	Wang, H.; Hollander, A.I. den; Moayedi, Y.; Abulimiti, A.; Li, Y.; Collin, R.W.J.; Hoyng, C.B.; Lopez, I.; Bray, M.; Lewis, R.A.; Lupski, J.R.; Mardon, G.; Koenekoop, R.K.; Chen, R.
2009	A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa	Azam, M.; Khan, M.I.; Gal, A.; Hussain, A.; Shah, S.T.; Khan, M.S.; Sadeque, A.; Bokhari, H.; Collin, R.W.J.; Orth, U.; Genderen, M. van; Hollander, A.I. den; Cremers, F.P.M.; Qamar, R.
2009	Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.	Heer, A.M. de; Huygen, P.L.M.; Collin, R.W.J.; Oostrik, J.; Kremer, J.M.J.; Cremers, C.W.R.J.
2009	A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.	Littink, K.W.; Genderen, M. van; Collin, R.W.J.; Roosing, S.; Brouwer, A.P.M. de; Riemslag, F.C.; Venselaar, H.; Thiadens, A.A.H.J.; Hoyng, C.B.; Rohrschneider, K.; Hollander, A.I. den; Cremers, F.P.M.; Born, L.I. van den
2009	Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.	Thiadens, A.A.H.J.; Hollander, A.I. den; Roosing, S.; Nabuurs, S.B.; Zekveld-Vroon, R.C.; Collin, R.W.J.; Baere, E. de; Koenekoop, R.K.; Schooneveld, M.J. van; Strom, T.M.; Lith-Verhoeven, J.J. van; Lotery, A.J.; Moll-Ramirez, N.G. van; Leroy, B.P.; Born, L.I. van den; Hoyng, C.B.; Cremers, F.P.M.; Klaver, C.C.
2008	Flat Threshold and Mid-Frequency Hearing Impairment in a Dutch DFNA8/12 Family with a Novel Mutation in TECTA. Some Evidence for Protection of the Inner Ear.	Heer, A.R de; Pauw, R.J.; Huygen, P.L.M.; Collin, R.W.J.; Kremer, H.; Cremers, C.W.R.J.
2008	Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans.	Ahmed, Z.M.; Masmoudi, S.; Kalay, E.; Belyantseva, I.A.; Mosrati, M.A.; Collin, R.W.J.; Riazuddin, Saima; Hmani-Aifa, M.; Venselaar, H.; Kawar, M.N.; Tlili, A.; Zwaag, B. van der; Khan, S.; Ayadi, L.; Riazuddin, S.A.; Morell, R.J.; Griffith, A.J.; Charfedine, I.; Caylan, R.; Oostrik, J.; Karaguzel, A.; Ghorbel, A.; Riazuddin, Sheikh; Friedman, T.B.; Ayadi, H.; Kremer, H.
2008	Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.	Collin, R.W.J.; Kalay, E.; Tariq, M.; Peters, T.A.; Zwaag, B. van der; Venselaar, H.; Oostrik, J.; Lee, K.; Ahmed, Z.M.; Caylan, R.; Li, Y.; Spierenburg, H.A.; Eyupoglu, E.; Heister, A.; Riazuddin, Saima; Bahat, E.; Ansar, M.; Arslan, S.; Wollnik, B.; Brunner, H.G.; Cremers, C.W.R.J.; Karaguzel, A.; Ahmad, W.; Cremers, F.P.M.; Vriend, G.; Friedman, T.B.; Riazuddin, Sheikh; Leal, S.M.; Kremer, H.
2008	Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.	Pauw, R.J.; Drunen, FJ van; Collin, R.W.J.; Huygen, P.L.; Kremer, H.; Cremers, C.W.R.J.
2008	Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer.	Collin, R.W.J.; Heer, AM de; Oostrik, J.; Pauw, R.J.; Plantinga, R.F.; Huygen, P.L.; Admiraal, R.; Brouwer, A.P.M. de; Strom, T.M.; Cremers, C.W.R.J.; Kremer, H.
2008	Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding.	Collin, R.W.J.; Chellappa, R.; Pauw, R.J.; Vriend, G.; Oostrik, J.; Drunen, W van; Huygen, P.L.; Admiraal, R.; Hoefsloot, L.H.; Cremers, F.P.M.; Xiang, M.; Cremers, C.W.R.J.; Kremer, H.
2007	Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W.	Pauw, R.J.; Collin, R.W.J.; Huygen, P.L.M.; Hoefsloot, L.H.; Kremer, H.; Cremers, C.W.R.J.
2007	A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2-q13.4.	Kalay, E.; Caylan, R.; Kiroglu, A.F.; Yasar, T.; Collin, R.W.J.; Heister, J.G.A.M.; Oostrik, J.; Cremers, C.W.R.J.; Brunner, H.G.; Karaguzel, A.; Kremer, H.
2007	Phenotype description of a novel DFNA9/COCH mutation, I109T.	Pauw, R.J.; Huygen, P.L.M.; Collin, R.W.J.; Cruysberg, J.R.M.; Hoefsloot, L.H.; Kremer, H.; Cremers, C.W.R.J.
2007	Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment.	Collin, R.W.J.; Kalay, E.; Oostrik, J.; Caylan, R.; Wollnik, B.; Arslan, S.; Hollander, A.I. den; Birinci, Y.; Lichtner, P.; Strom, T.M.; Toraman, B.; Hoefsloot, L.H.; Cremers, C.W.R.J.; Brunner, H.G.; Cremers, F.P.M.; Karaguzel, A.; Kremer, H.
2006	Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9).	Collin, R.W.J.; Pauw, R.J.; Schoots, J.; Huygen, P.L.M.; Hoefsloot, L.H.; Cremers, C.W.R.J.; Kremer, H.
2006	The coding sequence of amyloid-beta precursor protein APP contains a neural-specific promoter element.	Collin, R.W.J.; Martens, G.J.M.
2006	Exploring the role of Alzheimer's amyloid-β precursor protein APP and its relative APLP2 in Xenopus intermediate pituitary	Collin, R.W.J.
2006	Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.	Kalay, E.; Li, Y.; Uzumcu, A.; Uyguner, O.; Collin, R.W.J.; Caylan, R.; Ulubil-Emiroglu, M.; Kersten, F.F.J.; Hafiz, G.; Wijk, E. van; Kayserili, H.; Rohmann, E.; Wagenstaller, J.; Hoefsloot, L.H.; Strom, T.M.; Nurnberg, G.; Baserer, N.; Hollander, A.I. den; Cremers, F.P.M.; Cremers, C.W.R.J.; Becker, C.; Brunner, H.G.; Nurnberg, P.; Karaguzel, A.; Basaran, S.; Kubisch, C.; Kremer, H.; Wollnik, B.
2005	The amyloid-<beta> precursor-like protein APLP2 and its relative APP are differentially regulated during neuroendocrine cell activation.	Collin, R.W.J.; Martens, G.J.M.
2005	Biosynthesis and differential processing of two pools of amyloid-b precursor protein in a physiologically inducible neuroendocrine cell	Collin, R.W.J.; Hurk, W.H. van den; Martens, G.J.M.
2004	Identification and expression of the first nonmammalian amyloid-beta precursor-like protein APLP2 in the amphibian Xenopus laevis.	Collin, R.W.J.; Strien, D. van; Leunissen, J.A.M.; Martens, G.J.M.