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Jeroen van Reeuwijk

Research Profile

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TOP 3
Karen Buysse; David Chitayat; William Halliday; Erik-Jan Kamsteeg; Dirk J Lefeber; Yung-Yao Lin; Gareth Powell; Moniek Riemersma; Tony Roscioli; Derek L Stemple; Ellen van Beusekom; Riyana Babul-Hirji; Susan Blaser; Christa van den Elzen; Jeroen van Reeuwijk; Gavin J Wright; Hans van Bokhoven
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.
Tjitske Kleefstra; Tom S Koemans; Jamie M Kramer; Kornelia Neveling; Willy M Nillesen; Trine Prescott; Annette Schenck; Han G Brunner; Robin D Clark; Arjan P M de Brouwer; koenraad devriendt; Michaela Fenckova; Christian Gilissen; Nael Nadif Kasri; Willem M R van den Akker; Jeroen van Reeuwijk; Joris Veltman; Lisenka E L M Vissers; Marjolein H Willemsen; Willemijn Wissink-Lindhout; Huiqing Zhou; Hans van Bokhoven
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
Jeroen van Reeuwijk; Heleen H Arts; Ronald Roepman
Scrutinizing ciliopathies by unraveling ciliary interaction networks.

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All Publications

2013: Karen Buysse; David Chitayat; William Halliday; Erik-Jan Kamsteeg; Dirk J Lefeber; Yung-Yao Lin; Gareth Powell; Moniek Riemersma; Tony Roscioli; Derek L Stemple; Ellen van Beusekom; Riyana Babul-Hirji; Susan Blaser; Christa van den Elzen; Jeroen van Reeuwijk; Gavin J Wright; Hans van Bokhoven
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.
Human molecular genetics 2013;22(9):1746-54.
2012: Tjitske Kleefstra; Tom S Koemans; Jamie M Kramer; Kornelia Neveling; Willy M Nillesen; Trine Prescott; Annette Schenck; Han G Brunner; Robin D Clark; Arjan P M de Brouwer; koenraad devriendt; Michaela Fenckova; Christian Gilissen; Nael Nadif Kasri; Willem M R van den Akker; Jeroen van Reeuwijk; Joris Veltman; Lisenka E L M Vissers; Marjolein H Willemsen; Willemijn Wissink-Lindhout; Huiqing Zhou; Hans van Bokhoven
Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.
American journal of human genetics 2012;91(1):73-82.
2011: Jeroen van Reeuwijk; Heleen H Arts; Ronald Roepman
Scrutinizing ciliopathies by unraveling ciliary interaction networks.
Human molecular genetics 2011;20(R2):R149-57.
2011: Karlien L M Coene; Frans P M Cremers; C Johannes Gloeckner; Stef J F Letteboer; Dorus A Mans; Theo A Peters; Emine Bolat; Karsten Boldt; Susanne Roosing; Marius Ueffing; Jeroen van Reeuwijk; Ronald Roepman
The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.
Human molecular genetics 2011;20(18):3592-605.
2011: Karsten Boldt; Dorus A Mans; Jungyeon Won; Jeroen van Reeuwijk; Andreas Vogt; Norbert Kinkl; Stef J F Letteboer; Wanda L Hicks; Ron E Hurd; Jürgen K Naggert; Yves Texier; Anneke I den Hollander; Robert K Koenekoop; Jean Bennett; Frans P M Cremers; Christian J Gloeckner; Patsy M Nishina; Ronald Roepman; Marius Ueffing
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.
The Journal of clinical investigation 2011;121(6):2169-80.
2010: Eva Morava; Ron A Wevers; Vincent Cantagrel; Lies Hoefsloot; Lihadh Al-Gazali; Jeroen Schoots; Arno van Rooij; Karin M L C Huijben; Conny van Ravenswaaij-Arts; Marjolijn Jongmans; Jolanta Sykut-Cegielska; Georg F Hoffmann; Peter Bluemel; Maciej Adamowicz; Jeroen van Reeuwijk; Bobby G Ng; Jorieke E H Bergman; Hans van Bokhoven; Christian Körner; Dusica Babovic-Vuksanovic; Michèl A A P Willemsen; Joseph G Gleeson; Ludwig Lehle; Arjan P M de Brouwer; Dirk J Lefeber
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.
Brain : a journal of neurology 2010;133(11):3210-20.
2010: Christian Gilissen; Heleen H Arts; Alexander Hoischen; Liesbeth Spruijt; Dorus A Mans; Peer Arts; Bart van Lier; Marloes Steehouwer; Jeroen van Reeuwijk; Sarina G Kant; Ronald Roepman; Nine V A M Knoers; Joris Veltman; Han G Brunner
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
American journal of human genetics 2010;87(3):418-23.
2010: Jeroen van Reeuwijk; M J W Olderode-Berends; Christa van den Elzen; O F Brouwer; T Roscioli; maria van pampus; Hans Scheffer; Han G Brunner; Hans van Bokhoven; Frans A Hol
A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.
Clinical genetics 2010;78(3):275-81.
2010: Ferry F J Kersten; Erwin van Wijk; Jeroen van Reeuwijk; Bert van der Zwaag; Tina Märker; Theo A Peters; Nicholas Katsanis; Uwe Wolfrum; Jan E E Keunen; Ronald Roepman; Hannie Kremer
Association of whirlin with Cav1.3 (alpha1D) channels in photoreceptors, defining a novel member of the usher protein network.
Investigative ophthalmology & visual science 2010;51(5):2338-46.
2008: Martin Oti; Jeroen van Reeuwijk; Martijn A Huynen; Han G Brunner
Conserved co-expression for candidate disease gene prioritization.
BMC bioinformatics 2008;9():208.
2008: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; Dirk J Lefeber; Zsolt Urban; Stephanie Gruenewald; Willem ANNAERT; Han G Brunner; Hans van Bokhoven; Ron A Wevers; Eva Morava; Gert Matthijs; Lionel Van Maldergem; Stefan Mundlos
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Nature genetics 2008;40(1):32-4.
2008: Eva Morava; Dirk J Lefeber; Z Urban; Linda De Meirleir; Peter Meinecke; Gabriele Gillessen-Kaesbach; Jolanta Sykut-Cegielska; Maciej Adamowicz; I Salafsky; J Ranells; E Lemyre; Jeroen van Reeuwijk; Han G Brunner; Ron A Wevers
Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation.
European journal of human genetics : EJHG 2008;16(1):28-35.
2007: Jeroen van Reeuwijk; Prabhjit K Grewal; Mustafa A Salih; Daniel Beltrán-Valero de Bernabé; Jenny M McLaughlan; Caroline B Michielse; Ralf Herrmann; Jane E Hewitt; Alice Steinbrecher; Mohamed Z Seidahmed; Mohamed M Shaheed; Abdullah M Abomelha; Han G Brunner; Hans van Bokhoven; Thomas Voit
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
Human genetics 2007;121(6):685-90.
2006: Jeroen van Reeuwijk; Svetlana Maugenre; Christa van den Elzen; Aad Verrips; Enrico Bertini; Francesco Muntoni; Luciano Merlini; Hans Scheffer; Han G Brunner; Pascale Guicheney; Hans van Bokhoven
The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.
Human mutation 2006;27(5):453-9.
2006: Dorien Lugtenberg; Helger G Yntema; Martijn J G Banning; Astrid R Oudakker; Helen V Firth; Lionel Willatt; Martine Raynaud; Tjitske Kleefstra; Jean-Pierre Fryns; Hans-Hilger Ropers; Jamel Chelly; Claude Moraine; Jozef Gecz; Jeroen van Reeuwijk; Sander B Nabuurs; Bert B A de Vries; Ben C J Hamel; Arjan de Brouwer; Hans van Bokhoven
ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.
American journal of human genetics 2006;78(2):265-78.
2005: Jeroen van Reeuwijk; M Janssen; Christa van den Elzen; D Beltran-Valero de Bernabé; Patrizia Sabatelli; Luciano Merlini; M Boon; Hans Scheffer; Martin Brockington; F Muntoni; M A Huynen; Aad Verrips; Christopher Walsh; P G Barth; Han G Brunner; Hans van Bokhoven
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
Journal of medical genetics 2005;42(12):907-12.
2005: Hans van Bokhoven; Jacopo Celli; Jeroen van Reeuwijk; Tuula Rinne; Bob Glaudemans; Ellen van Beusekom; Paul Rieu; Ruth Newbury-Ecob; Chin Chiang; Han G Brunner
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.
Nature genetics 2005;37(5):465-7.
2005: Jeroen van Reeuwijk; Han G Brunner; Hans van Bokhoven
Glyc-O-genetics of Walker-Warburg syndrome.
Clinical genetics 2005;67(4):281-9.