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Full Text	Issue Date	Title	Author(s)
	2012	Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan	Roscioli, T.; Reeuwijk, J. van; Elzen, C. van den; Beusekom, E. van; Pfundt, R.; Vissers, L.E.L.M.; Buckley, M.F.; Zhou, H.; Veltman, J.A.; Gilissen, C.; Bokhoven, Hans van
	2012	Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1	Kim, S.D.; Liu, J.L.; Roscioli, T.; Buckley, M.F.; Yagnik, G.; Boyadjiev, S.A.; Kim, J.
	2012	Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome).	Thompson, M.D.; Roscioli, T.; Marcelis, C.L.M.; Nezarati, M.M.; Stolte-Dijkstra, I.; Sharom, F.J.; Lu, P.; Phillips, J.A.; Sweeney, E.; Robinson, P.N.; Krawitz, P.; Yntema, H.G.; Andrade, D.M.; Brunner, H.G.; Cole, D.E.
	2012	A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9	Justice, C.M.; Yagnik, G.; Kim, Y.; Peter, I.; Jabs, E.W.; Erazo, M.; Ye, X.; Ainehsazan, E.; Shi, L.; Cunningham, M.L.; Kimonis, V.; Roscioli, T.; Wall, S.A.; Wilkie, A.O.; Stoler, J.; Richtsmeier, J.T.; Heuze, Y.; Sanchez-Lara, P.A.; Buckley, M.F.; Druschel, C.M.; Mills, J.L.; Caggana, M.; Romitti, P.A.; Kay, D.M.; Senders, C.; Taub, P.J.; Klein, O.D.; Boggan, J.; Zwienenberg-Lee, M.; Naydenov, C.; Kim, J.; Wilson, A.F.; Boyadjiev, S.A.
	2012	Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome	Cliffe, S.T.; Bloch, D.B.; Suryani, S.; Kamsteeg, E.J.; Avery, D.T.; Palendira, U.; Church, J.A.; Wainstein, B.K.; Trizzino, A.; Lefranc, G.; Akatcherian, C.; Megarbane, A.; Gilissen, C.; Moshous, D.; Reichenbach, J.; Misbah, S.; Salzer, U.; Abinun, M.; Ong, P.Y.; Stepensky, P.; Ruga, E.; Ziegler, J.B.; Wong, M.; Tangye, S.G.; Lindeman, R.; Buckley, M.F.; Roscioli, T.
	2012	Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan	Roscioli, T.; Kamsteeg, E.J.; Buysse, K.; Maystadt, I.; Reeuwijk, J. van; van den Elzen, C.; van Beusekom, E.; Riemersma, M.; Pfundt, R.; Peart-Vissers, L.E.L.M.; Schraders, M.; Altunoglu, U.; Buckley, M.F.; Brunner, H.G.; Grisart, B.; Zhou, H.; Veltman, J.A.; Gilissen, C.; Mancini, G.M.; Delree, P.; Willemsen, M.A.A.P.; Ramadza, D.P.; Chitayat, D.; Bennett, C.; Sheridan, E.; Peeters, E.A.; Tan-Sindhunata, G.M.; de Die-Smulders, C.E.; Devriendt, K.; Kayserili, H.; El-Hashash, O.A.; Stemple, D.L.; Lefeber, D.J.; Lin, Y.Y.; Bokhoven, J.H.L.M. van
	2012	De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome	Riviere, J.B.; Bon, B.W. van; Hoischen, A.; Kholmanskikh, S.S.; O'Roak, B.J.; Gilissen, C.; Gijsen, S.; Sullivan, C.T.; Christian, S.L.; Abdul-Rahman, O.A.; Atkin, J.F.; Chassaing, N.; Drouin-Garraud, V.; Fry, A.E.; Fryns, J.P.; Gripp, K.W.; Kempers, M.; Kleefstra, T.; Mancini, G.M.; Nowaczyk, M.J.; Ravenswaaij-Arts, C.M. van; Roscioli, T.; Marble, M.; Rosenfeld, J.A.; Siu, V.M.; Vries, B.B. de; Shendure, J.; Verloes, A.; Veltman, J.A.; Brunner, H.G.; Ross, M.E.; Pilz, D.T.; Dobyns, W.B.
	2011	B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement	Guillard, M.; Morava, E.; Ruijter, J. de; Roscioli, T.; Penzien, J.; Heuvel, L.P.W.J. van den; Willemsen, M.A.A.P.; Brouwer, A.P.M. de; Bodamer, O.A.; Wevers, R.A.; Lefeber, D.J.
	2011	Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice	Vissers, L.E.L.M.; Cox, T.C.; Maga, A.M.; Short, K.M.; Wiradjaja, F.; Janssen, I.M.; Jehee, F.; Bertola, D.; Liu, J.; Yagnik, G.; Sekiguchi, K.; Kiyozumi, D.; Bokhoven, J.H.L.M. van; Marcelis, C.L.M.; Cunningham, M.L.; Anderson, P.J.; Boyadjiev, S.A.; Passos-Bueno, M.R.; Veltman, J.A.; Smyth, I.; Buckley, M.F.; Roscioli, T.
	2010	A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.	Reeuwijk, J. van; Olderode-Berends, M.J.; Elzen, C. van den; Brouwer, O.F.; Roscioli, T.; Pampus, M.G. van; Scheffer, H.; Brunner, H.G.; Bokhoven, J.H.L.M. van; Hol, F.A.
	2010	Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.	Krawitz, P.M.; Schweiger, M.R.; Rodelsperger, C.; Marcelis, C.L.M.; Kolsch, U.; Meisel, C.; Stephani, F.; Kinoshita, T.; Murakami, Y.; Bauer, S.; Isau, M.; Fischer, A.; Dahl, A.; Kerick, M.; Hecht, J.; Kohler, S.; Jager, M. de; Grunhagen, J.; Condor, B.J. de; Doelken, S.; Brunner, H.G.; Meinecke, P.; Passarge, E.; Thompson, M.D.; Cole, D.E.; Horn, D.; Roscioli, T.; Mundlos, S.; Robinson, P.N.
	2010	Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.	Kouwenhoven, E.N.; Heeringen, S.J. van; Tena, J.J.; Oti, M.O.; Dutilh, B.E.; Alonso, M.E.; Calle-Mustienes, E. de la; Smeenk, L.; Rinne, T.K.; Parsaulian, L.; Bolat, E.; Jurgelenaite, R.; Huynen, M.A.; Hoischen, A.; Veltman, J.A.; Brunner, H.G.; Roscioli, T.; Oates, E.; Wilson, M.; Manzanares, M.; Gomez-Skarmeta, J.L.; Stunnenberg, H.G.; Lohrum, M.A.E.; Bokhoven, J.H.L.M. van; Zhou, H.
	2009	Generalized arterial calcification of infancy: treatment with bisphosphonates.	Ramjan, K.A.; Roscioli, T.; Rutsch, F.; Sillence, D.; Munns, C.F.
	2009	Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.	James, P.A.; Culling, B.; Mullan, G.; Jenkins, M.; Elakis, G.; Turner, A.M.; Mowat, D.; Wilson, M.; Anderson, P.; Savarirayan, R.; Cliffe, S.T.; Caramins, M.; Buckley, M.F.; Tucker, K.; Roscioli, T.
	2009	Rare mutations of FGFR2 causing Apert syndrome : identification of the first partial gene deletion, and an Alu element insertion from a new subfamily	Bochukova, E.G.; Roscioli, T.; Hedges, D.J.; Taylor, I.B.; Johnson, D.; David, D.J.; Deininger, P.L.; Wilkie, A.O.
	2009	SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.	Cliffe, S.T.; Kramer, J.M.; Hussain, K.; Robben, J.H.; Jong, E.K. de; Brouwer, A.P.M. de; Nibbeling, E.; Kamsteeg, E.J.; Wong, M.; Prendiville, J.; James, C.; Padidela, R.; Becknell, C.; Bokhoven, J.H.L.M. van; Deen, P.M.T.; Hennekam, R.C.M.; Lindeman, R.; Schenck, A.; Roscioli, T.; Buckley, M.F.
	2008	Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation.	Freeman, L.; Elakis, G.; Watson, G.; Mullan, G.L.; Taylor, P.J.; Anderson, P.; Ogle, R.; Buckley, M.F.; Roscioli, T.
	2008	Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.	Zankl, A.; Elakis, G.; Susman, R.D.; Inglis, G.; Gardener, G.; Buckley, M.F.; Roscioli, T.

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