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TITLE: DVL1 Frameshift Mutations Clustering in the Penultimate Exon Cause Autosomal-Dominant Robinow Syndrome
AUTHORS: Janson White; Juliana F Mazzeu; Alexander Hoischen; Shalini N Jhangiani; Tomasz Gambin; Michele Calijorne Alcino; Samantha Penney; Jorge M Saraiva; Hanne Hove; Flemming Skovby; Hulya Kayserili; Elicia Estrella; Anneke T Vulto van Silfhout; Marloes Steehouwer; Donna M Muzny; Reid R Sutton; Richard A Gibbs; James R Lupski; Han G Brunner; Bregje W M van Bon; Claudia M B Carvalho; ...More
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 96, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
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TITLE: MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. MLL2 mutation detection in 86 patients with Kabuki syndrome   Full Text
AUTHORS: Makrythanasis, P; van Bon, BW; Steehouwer, M; Rodriguez Santiago, B; Simpson, M; Dias, P; Anderlid, BM; Arts, P; Bhat, M; Augello, B; Biamino, E; Bongers, EMHF; del Campo, M; Cordeiro, I; M. Cueto Gonzalez; Cusco, I; Deshpande, C; Frysira, E; Izatt, L; Flores, R; Galan, E; Gener, B; Gilissen, C; Granneman, SM; Hoyer, J; Yntema, HG; Kets, CM; Koolen, DA; Marcelis, CL; Medeira, A; Micale, L; Mohammed, S; de Munnik, SA; Nordgren, A; Psoni, S; Reardon, W; Revencu, N; Roscioli, T; Ruiterkamp Versteeg, M; G. Santos; Schoumans, J; Schuurs Hoeijmakers, JHM; Silengo, MC; Toledo, L; Vendrell, T; van der Burgt, I; van Lier, B; Zweier, C; Reymond, A; Trembath, RC; Perez Jurado, L; Dupont, J; de Vries, BBA; Brunner, HG; Veltman, JA; Merla, G; Antonarakis, SE; Hoischen, A; ...More
PUBLISHED: 2013, SOURCE: CLINICAL GENETICS, VOLUME: 84, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
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TITLE: De novo mutations of SETBP1 cause Schinzel-Giedion syndrome  Full Text
AUTHORS: Alexander Hoischen; Bregje W M van Bon; Christian Gilissen; Peer Arts; Bart van Lier; Marloes Steehouwer; Petra de Vries; Rick de Reuver; Nienke Wieskamp; Geert Mortier; Koen Devriendt; Marta Z Amorim; Nicole Revencu; Alexa Kidd; Mafalda Barbosa; Anne Turner; Janine Smith; Christina Oley; Alex Henderson; Ian M Hayes; Elizabeth M Thompson; Han G Brunner; Bert B A de Vries; Joris A Veltman; ...More
PUBLISHED: 2010, SOURCE: NATURE GENETICS, VOLUME: 42, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
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TITLE: Massively Parallel Sequencing of Ataxia Genes after Array-Based Enrichment  Full Text
AUTHORS: Alexander Hoischen; Christian Gilissen; Peer Arts; Nienke Wieskamp; Walter van der Vliet; Sascha Vermeer; Marloes Steehouwer; Petra de Vries; Rowdy Meijer; Jorge Seiqueros ; Nine V A M Knoers; Michael F Buckley; Hans Scheffer; Joris A Veltman;
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef