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Full Text	Issue Date	Title	Author(s)
	2011	C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome	Arts, H.H.; Bongers, M.H.F.; Mans, D.A.; Beersum, S.E.C. van; Oud, M.M.; Bolat, E.; Spruijt, L.; Cornelissen, E.A.M.; Schuurs-Hoeijmakers, J.H.M.; Leeuw, N. de; Cormier-Daire, V.; Brunner, H.G.; Knoers, N.V.A.M.; Roepman, R.
	2008	CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.	Gorden, N.T.; Arts, H.H.; Parisi, M.A.; Coene, K.L.M.; Letteboer, S.J.F.; Beersum, S.E.C. van; Mans, D.A.; Hikida, A.; Eckert, M.; Knutzen, D.; Alswaid, A.F.; Ozyurek, H.; Dibooglu, S.; Otto, E.A.; Liu, Y.; Davis, E.E.; Hutter, C.M.; Bammler, T.K.; Farin, F.M.; Dorschner, M.; Topcu, M.; Zackai, E.H.; Rosenthal, P.; Owens, K.N.; Katsanis, N.; Vincent, J.B.; Hildebrandt, F.; Rubel, E.W.; Raible, D.W.; Knoers, N.V.A.M.; Chance, P.F.; Roepman, R.; Moens, C.B.; Glass, I.A.; Doherty, D.
	2007	Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.	Arts, H.H.; Doherty, D.; Beersum, S.E.C. van; Parisi, M.A.; Letteboer, S.J.F.; Gorden, N.T.; Peters, T.A.; Marker, T.; Voesenek, K.E.J.; Kartono, A.; Ozyurek, H.; Farin, F.M.; Kroes, H.Y.; Wolfrum, U.; Brunner, H.G.; Cremers, F.P.M.; Glass, I.A.; Knoers, N.V.A.M.; Roepman, R.
	2007	Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.	Hollander, A.I. den; Koenekoop, R.K.; Mohamed, M.D.; Arts, H.H.; Boldt, K.; Towns, K.V.; Sedmak, T.; Beer, M. de; Nagel-Wolfrum, K.; McKibbin, M.; Dharmaraj, S.; Lopez, I.; Ivings, L.; Williams, G.A.; Springell, K.; Woods, C.G.; Jafri, H.; Rashid, Y.; Strom, T.M.; Zwaag, B. van der; Gosens, I.; Kersten, F.F.J.; Wijk, E. van; Veltman, J.A.; Zonneveld, M.N.; Beersum, S.E.C. van; Maumenee, I.H.; Wolfrum, U.; Cheetham, M.E.; Ueffing, M.; Cremers, F.P.M.; Inglehearn, C.F.; Roepman, R.
	2005	Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.	Roepman, R.; Letteboer, S.J.F.; Arts, H.H.; Beersum, S.E.C. van; Lu, X.; Krieger, E.; Ferreira, P.A.; Cremers, F.P.M.
	2004	Mutations in the human TBX4 gene cause small patella syndrome.	Bongers, M.H.F.; Duijf, P.H.; Beersum, S.E.C. van; Schoots, J.; Kampen, A. van; Burckhardt, A.; Hamel, B.C.J.; Losan, F.; Hoefsloot, L.H.; Yntema, H.G.; Knoers, N.V.A.M.; Bokhoven, J.H.L.M. van
	1997	Assignment of WNT7B to human chromosome band 22q13 by in situ hybridization	Bokhoven, J.H.L.M. van; Kissing, J.; Schepens, M.T.M.; Beersum, S.E.C. van; Simons, A.; Riegman, P.H.J.; McMahon, J.A.; McMahon, A.P.; Brunner, H.G.
	1996	A mutation in COL9A2 causes multiple epiphyseal dysplasia (EDM2)	Muragaki, Y.; Mariman, E.C.M.; Beersum, S.E.C. van; Perälä, M.; Mourik, J.B.A. van; Warman, M.L.; Hamel, B.C.J.; Olsen, B.R.
	1996	A gene for hereditary non-chromaffin paragangliomas, a disorder subject to genomic imprinting, maps at 11q13.1	Mariman, E.C.M.; Beersum, S.E.C. van; Cremers, C.W.R.J.; Smits, A.P.T.; Ropers, H.H.
	1996	A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2)	Muragaki, Y.; Mariman, E.C.M.; Beersum, S.E.C. van; Perälä, M.; Mourik, J.B.A. van; Warman, M.L.; Olsen, B.R.; Hamel, B.C.J.
	1996	Two divergent types of nerve pathology in patients with different Po mutations in Charcot-Marie-Tooth disease	Gabreëls-Festen, A.A.W.M.; Hoogendijk, J.E.; Meijerink, P.H.S.; Gabreëls, F.J.M.; Bolhuis, P.A.; Beersum, S.E.C. van; Kulkens, T.; Nelis, E.; Jennekens, F.G.I.; Visser, M. de; Engelen, B.G.M. van; Broeckhoven, C. van; Mariman, E.C.M.
	1995	Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity.	Mariman, E.C.M.; Beersum, S.E.C. van; Cremers, C.W.R.J.; Struycken, P.M.; Ropers, H.H.
	1995	Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity	Mariman, E.C.M.; Beersum, S.E.C. van; Cremers, C.W.R.J.; Struycken, P.M.; Ropers, H.H.
	1995	Een gen voor glomustumoren ligt op 11q12-q13.1 en is onderhevig aan genomische 'imprinting'	Mariman, E.C.M.; Beersum, S.E.C. van; Cremers, C.W.R.J.; Smits, A.P.T.; Ropers, H.H.
	1995	Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A12 Locus	Vikkula, M.; Mariman, E.C.M.; Lui, V.C.H.; Zhidkova, N.I.; Tiller, G.E.; Goldring, M.B.; Beersum, S.E.C. van; Waal Malefijt, M.C. de; Hoogen, F.H.J. van den; Ropers, H.H.; Mayne, R.; Cheah, K.S.E.; Olsen, B.R.; Warman, M.L.; Brunner, H.G.
	1995	Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus	Vikkula, M.; Mariman, E.C.M.; Lui, V.C.H.; Zhidkova, N.I.; Tiller, G.E.; Goldring, M.B.; Beersum, S.E.C. van; Waal Malefijt, M.C. de; Hoogen, F.H.J. van den; Ropers, H.-H.; Mayne, R.; Cheah, K.S.E.; Olsen, B.R.; Warman, M.L.; Brunner, H.G.

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