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Joris Veltman

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Oligonucleotide Array Sequence Analysis

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Physiology

Genes & Molecular Sequences

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Nucleic Acid Hybridization

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Chromosomes, Human, Pair 9

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Janneke H M Schuurs-Hoeijmakers; Marloes Steehouwer; Mariëlle E M Swinkels; Hans van Bokhoven; Joris Veltman; Lisenka E L M Vissers; Michèl A Willemsen; Arjan P M de Brouwer; Bert B A de Vries; koenraad devriendt; Christian Gilissen; Maureen Holvoet; Nicholas Katsanis; Edwin C Oh; Han G Brunner
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.
Joep de Ligt; Bert B A de Vries; Petra de Vries; Marisol del Rosario; Christian Gilissen; Alexander Hoischen; Tjitske Kleefstra; David A Koolen; Thessa Kroes; Hans Scheffer; Bregje W M van Bon; Joris Veltman; Anneke T Vulto-van Silfhout; Marjolein H Willemsen; Helger G Yntema; Han G Brunner; Lisenka E L M Vissers
Diagnostic exome sequencing in persons with severe intellectual disability.
Sharita Timal; Lambert van Den Heuvel; Francjan J van Spronsen; Joris Veltman; Ron A Wevers; Ludwig Lehle; Eva Morava; Justyna Paprocka; Richard J Rodenburg; Jolanta Sykut-Cegielska; Christian Thiel; Maciej Adamowicz; Ilse Eidhof; Christian Gilissen; Alexander Hoischen; Karin M L C Huijben; Ewa Jamroz; Christian Körner; Dirk J Lefeber
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

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2012: Janneke H M Schuurs-Hoeijmakers; Marloes Steehouwer; Mariëlle E M Swinkels; Hans van Bokhoven; Joris Veltman; Lisenka E L M Vissers; Michèl A Willemsen; Arjan P M de Brouwer; Bert B A de Vries; koenraad devriendt; Christian Gilissen; Maureen Holvoet; Nicholas Katsanis; Edwin C Oh; Han G Brunner
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.
American journal of human genetics 2012;91(6):1122-7.
2012: Joep de Ligt; Bert B A de Vries; Petra de Vries; Marisol del Rosario; Christian Gilissen; Alexander Hoischen; Tjitske Kleefstra; David A Koolen; Thessa Kroes; Hans Scheffer; Bregje W M van Bon; Joris Veltman; Anneke T Vulto-van Silfhout; Marjolein H Willemsen; Helger G Yntema; Han G Brunner; Lisenka E L M Vissers
Diagnostic exome sequencing in persons with severe intellectual disability.
The New England journal of medicine 2012;367(20):1921-9.
2012: Sharita Timal; Lambert van Den Heuvel; Francjan J van Spronsen; Joris Veltman; Ron A Wevers; Ludwig Lehle; Eva Morava; Justyna Paprocka; Richard J Rodenburg; Jolanta Sykut-Cegielska; Christian Thiel; Maciej Adamowicz; Ilse Eidhof; Christian Gilissen; Alexander Hoischen; Karin M L C Huijben; Ewa Jamroz; Christian Körner; Dirk J Lefeber
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Human molecular genetics 2012;21(19):4151-61.
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.
2012: Bregje W M van Bon; Joris Veltman; Nienke Wieskamp; Han G Brunner; Bert B A de Vries; Petra de Vries; Hartmut Engels; Metin Eser; Christian Gilissen; Dorothy K Grange; Raoul C M Hennekam; Bertrand Isidor; Hulya Kayserili; Martine Le Merrer; Eva Morava; John R Ostergaard; Heiko Reutter; Stephen P Robertson; Marloes Steehouwer; Konstantinos Tsiakas; Alexander Hoischen
Cantú syndrome is caused by mutations in ABCC9.
American journal of human genetics 2012;90(6):1094-101.
2012: David A Koolen; Jamie M Kramer; Valérie Malan; Sarah Martens; Heather L Moore-Barton; Kornelia Neveling; Willy M Nillesen; Hans Scheffer; Annette Schenck; Annick Toutain; Anne Chun-Hui Tsai; Joris Veltman; Eugene T P Verwiel; Lisenka E L M Vissers; Helger G Yntema; Jeanne Amiel; Ernie M H F Bongers; Han G Brunner; Sau Wai Cheung; Arjan P M de Brouwer; Petra de Vries; Frances V Elmslie; Ton Feuth; Christian Gilissen; Bert B A de Vries
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
Nature genetics 2012;44(6):639-41.
2012: Kornelia Neveling; Anna M Siemiatkowska; L Ingeborgh Van Den Born; Ramon A C van Huet; Joris Veltman; Linda Visser; Nienke Wieskamp; Marijke N Zonneveld; Kari E H Branham; Michael F Buckley; Rob W J Collin; Frans P M Cremers; Joep de Ligt; Anneke I den Hollander; Sabine J Gijsen; Christian Gilissen; Lies Hoefsloot; Alexander Hoischen; Carel B Hoyng; Ulrich Kellner; B Jeroen Klevering; Michael P Kwint; Hans Scheffer
Next-generation genetic testing for retinitis pigmentosa.
Human mutation 2012;33(6):963-72.
2012: Andy Itsara; Robert B Jenkins; David A Koolen; Choli Lee; Kevin J Meyer; Karyn Meltz Steinberg; Joris Veltman; Lisenka E L M Vissers; Richard K Wilson; Michael C Zody; Carl Baker; Edwin Cuppen; Joep de Ligt; Tina A Graves; Evan E Eichler
Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.
American journal of human genetics 2012;90(4):599-613.
2012: Marjolein H Willemsen; Han G Brunner; Joep de Ligt; Bert B A de Vries; Ben C J Hamel; Thessa Kroes; Dorien Lugtenberg; Jeroen Schoots; Hans van Bokhoven; Bregje W M van Bon; Joris Veltman; Lisenka E L M Vissers; Michèl A A P Willemsen; Tjitske Kleefstra
Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.
Journal of medical genetics 2012;49(3):179-83.
2012: Anna Sanecka; Maaike A van Hout-Kuijer; Joris Veltman; Suzanne Welten; Marleen Ansems; Dagmar Eleveld-Trancikova; Christian Gilissen; Martijn A Huynen; Bastiaan Jan Herman Jansen; Maaike W G Looman; Amy C Prosser; Iziah E Sama; Gosse J Adema
Analysis of genes regulated by the transcription factor LUMAN identifies ApoA4 as a target gene in dendritic cells.
Molecular immunology 2012;50(1-2):66-73.
2012: Alejandro Estrada-Cuzcano; Tzipora C Falik-Zaccai; Sabine J Gijsen; Stephanie Hipp; B Jeroen Klevering; Susanne Kohl; Michael P Kwint; Stef J F Letteboer; Dorus A Mans; Kornelia Neveling; Ronald Roepman; Ygal Rotenstreich; Hans Scheffer; Dror Sharon; Ramon A C van Huet; Joris Veltman; Bernd Wissinger; Eberhart Zrenner; Eyal Banin; Ellen A W Blokland; Rob W J Collin; Anneke I den Hollander; Frans P M Cremers
Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.
American journal of human genetics 2012;90(1):102-9.
2011: Lisenka E L M Vissers; Giuseppina Timpani; Sheila Unger; Joris Veltman; Domenico Barbuti; Luisa Bonafé; Han G Brunner; Belinda Campos-Xavier; Tae-Joon Cho; Carlo Dionisi Vici; Ahmet Dursun; Virginia Fano; Ok Hwa Kim; Sun Hee Lee; Diego Martinelli; Gen Nishimura; Jörn Oliver Sass; Andrea Superti-Furga
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).
American journal of medical genetics. Part A 2011;155A(11):2609-16.
2011: Jayne Hehir-Kwa; Luis A Pérez Jurado; Rolph Pfundt; Benjamín Rodríguez-Santiago; Jan K Buitelaar; Nicole de Leeuw; Lisenka E L M Vissers; Joris Veltman
De novo copy number variants associated with intellectual disability have a paternal origin and age bias.
Journal of medical genetics 2011;48(11):776-8.
2011: Lisenka E L M Vissers; Fenny Wiradjaja; Garima Yagnik; Kiyotoshi Sekiguchi; Kieran M Short; Ian Smyth; Hans van Bokhoven; Joris Veltman; Peter J Anderson; Debora Bertola; Simeon Boyd; Michael F Buckley; Timothy C Cox; Michael L Cunningham; Irene M Janssen; Fernanda Jehee; Daiji Kiyozumi; Jia Liu; A. Murat Maga; Carlo Marcelis; Maria Rita Passos-Bueno; Tony Roscioli
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
PLoS genetics 2011;7(9):e1002278.
2011: Alexander Hoischen; Irene Janssen; Susanne Kjaergaard; Ruth McGowan; Ruth Newbury-Ecob; Maarit Peippo; Anita Rauch; Benjamín Rodríguez-Santiago; Sarah F Smithson; Bregje W M van Bon; Bart van Lier; Joris Veltman; Lisenka E L M Vissers; Dagmar Wieczorek; Deborah Bartholdi; Han G Brunner; Jan M Cobben; Petra de Vries; Christian Gilissen; Gabriele Gillessen-Kaesbach; Judith Goodship; Rob Hastings; Bert B A de Vries
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
Nature genetics 2011;43(8):729-31.
2011: Lisenka E L M Vissers; Ekkehart Lausch; Sheila Unger; Ana Belinda Campos-Xavier; Christian Gilissen; Antonio Rossi; Marisol Del Rosario; Hanka Venselaar; Ute Knoll; Sheela Nampoothiri; Mohandas Nair; Jürgen Spranger; Han G Brunner; Luisa Bonafé; Joris Veltman; Bernhard Zabel; andrea superti-furga
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP.
American journal of human genetics 2011;88(5):608-15.
2011: Jutta Becker; Oliver Semler; Christian Gilissen; Yun Li; Hanno Jörn Bolz; Cecilia Giunta; Carsten Bergmann; Marianne Rohrbach; Friederike Koerber; Katharina Zimmermann; Petra de Vries; Brunhilde Wirth; Eckhard Schoenau; Bernd Wollnik; Joris Veltman; Alexander Hoischen; Christian Netzer
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
American journal of human genetics 2011;88(3):362-71.
2011: Loes van der Zanden; Iris A L M van Rooij; W F J Feitz; Jo Knight; A Rogier T Donders; Kirsten Y Renkema; Ernie M H F Bongers; Sita H H M Vermeulen; Lambertus A L M Kiemeney; Joris Veltman; Alejandro Arias-Vásquez; Xufeng Zhang; Ellen Markljung; Liang Qiao; Laurence S Baskin; Agneta Nordenskjöld; Nel Roeleveld; Barbara Franke; Nine V A M Knoers
Common variants in DGKK are strongly associated with risk of hypospadias.
Nature genetics 2011;43(1):48-50.
2010: Sascha Vermeer; Alexander Hoischen; Rowdy P P Meijer; Christian Gilissen; Kornelia Neveling; Nienke Wieskamp; Arjan de Brouwer; Michel Koenig; Mathieu Anheim; Mirna Assoum; Nathalie Drouot; Slobodanka Todorovic; Vedrana Milic-Rasic; Hanns Lochmüller; Giovanni Stevanin; Cyril Goizet; Albert David; Alexandra Durr; Alexis Brice; Berry Kremer; Bart P C van de Warrenburg; Mascha M V A P Schijvenaars; Angelien Heister; Michael Kwint; Peer Arts; Jenny van der Wijst; Joris Veltman; Erik-Jan Kamsteeg; Hans Scheffer; Nine V A M Knoers
Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia.
American journal of human genetics 2010;87(6):813-9.
2010: Lisenka E L M Vissers; Joep de Ligt; Christian Gilissen; Irene Janssen; Marloes Steehouwer; Petra de Vries; Bart van Lier; Peer Arts; Nienke Wieskamp; Marisol del Rosario; Bregje W M van Bon; Alexander Hoischen; Bert B A de Vries; Han G Brunner; Joris Veltman
A de novo paradigm for mental retardation.
Nature genetics 2010;42(12):1109-12.
2010: L B C Bralten; A M Gravendeel; N K Kloosterhof; A Sacchetti; T Vrijenhoek; Joris Veltman; Martin J van den Bent; Johan M Kros; Casper C Hoogenraad; Peter A E Sillevis Smitt; Pim J French
The CASPR2 cell adhesion molecule functions as a tumor suppressor gene in glioma.
Oncogene 2010;29(46):6138-48.
2010: Serena De Vita; C Canzonetta; Claire Mulligan; F Delom; Jürgen Groet; C Baldo; L Vanes; Franca Dagna Bricarelli; A Hoischen; Joris Veltman; E M C Fisher; Victor L J Tybulewicz; Dean Nizetic
Trisomic dose of several chromosome 21 genes perturbs haematopoietic stem and progenitor cell differentiation in Down's syndrome.
Oncogene 2010;29(46):6102-14.
2010: Karin W Littink; Robert K Koenekoop; L Ingeborgh Van Den Born; Rob W J Collin; Luminita Moruz; Joris Veltman; Susanne Roosing; Marijke N Zonneveld; Amer Omar; Mahshad Darvish; Irma Lopez; Hester Y Kroes; Maria M van Genderen; Carel B Hoyng; Klaus Rohrschneider; Mary J van Schooneveld; Frans P M Cremers; Anneke I den Hollander
Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.
Investigative ophthalmology & visual science 2010;51(11):5943-51.
2010: Barbara Franke; Alejandro Arias Vasquez; Joris Veltman; Han G Brunner; Mark Rijpkema; Guillén Fernández
Genetic variation in CACNA1C, a gene associated with bipolar disorder, influences brainstem rather than gray matter volume in healthy individuals.
Biological psychiatry 2010;68(6):586-8.
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: Evelyn N Kouwenhoven; Simon J van Heeringen; Juan J Tena; Martin Oti; Bas E Dutilh; M Eva Alonso; Elisa de la Calle-Mustienes; Leonie Smeenk; Tuula Rinne; Lilian Parsaulian; Emine Bolat; Rasa Jurgelenaite; Martijn A Huynen; Alexander Hoischen; Joris Veltman; Han G Brunner; Tony Roscioli; Emily Oates; Meredith Wilson; Miguel Manzanares; José Luis Gómez-Skarmeta; Hendrik G Stunnenberg; Marion Lohrum; Hans van Bokhoven; Huiqing Zhou
Genome-wide profiling of p63 DNA-binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus.
PLoS genetics 2010;6(8):e1001065.
2010: 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 Veltman
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
Nature genetics 2010;42(6):483-5.
2010: Lisenka E L M Vissers; Bert B A de Vries; Joris Veltman
Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis.
Journal of medical genetics 2010;47(5):289-97.
2010: Jayne Y Hehir-Kwa; Nienke Wieskamp; Caleb Webber; Rolph Pfundt; Han G Brunner; Christian Gilissen; Bert B A de Vries; Chris P Ponting; Joris Veltman
Accurate distinction of pathogenic from benign CNVs in mental retardation.
PLoS computational biology 2010;6(4):e1000752.
2010: 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 Veltman
Massively parallel sequencing of ataxia genes after array-based enrichment.
Human mutation 2010;31(4):494-9.
2010: Bastiaan Jan Herman Jansen; Christian Gilissen; Helene Roelofs; Aneta Schaap-Oziemlak; Joris Veltman; Reinier A P Raymakers; Joop H Jansen; Gesine Kögler; Carl G Figdor; Ruurd Torensma; Gosse J Adema
Functional differences between mesenchymal stem cell populations are reflected by their transcriptome.
Stem cells and development 2010;19(4):481-90.
2010: Yun Li; Esther Pohl; Redouane Boulouiz; Margit Schraders; Gudrun Nürnberg; Majida Charif; Ronald J C Admiraal; Simon von Ameln; Ingelore Baessmann; Mostafa Kandil; Joris Veltman; Peter Nürnberg; Christian Kubisch; Abdelhamid Barakat; Hannie Kremer; Bernd Wollnik
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.
American journal of human genetics 2010;86(3):479-84.
2010: Dorien Lugtenberg; Luiz Zangrande-Vieira; Maria Kirchhoff; Annabel C Whibley; Astrid R Oudakker; Susanne Kjaergaard; Angela M Vianna-Morgante; Tjitske Kleefstra; Mariken Ruiter; Fernanda S Jehee; Reinhard Ullmann; Charles E Schwartz; Michael Stratton; F Lucy Raymond; Joris Veltman; Terry Vrijenhoek; Rolph Pfundt; Janneke H M Schuurs-Hoeijmakers; Jayne Y Hehir-Kwa; Guy Froyen; Jamel Chelly; Hans-Hilger Ropers; Claude Moraine; Jozef Gècz; Jeroen Knijnenburg; Sarina G Kant; Ben C J Hamel; Carla Rosenberg; Hans van Bokhoven; Arjan de Brouwer
Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.
American journal of medical genetics. Part A 2010;152A(3):638-45.
2010: Joris Veltman; Han G Brunner
Understanding variable expressivity in microdeletion syndromes.
Nature genetics 2010;42(3):192-3.
2010: Konstantinos Nikopoulos; Christian Gilissen; Alexander Hoischen; C Erik van Nouhuys; F Nienke Boonstra; Ellen A W Blokland; Peer Arts; Nienke Wieskamp; Tim M Strom; Carmen Ayuso; Mauk A D Tilanus; Sanne Bouwhuis; Arijit Mukhopadhyay; Hans Scheffer; Lies Hoefsloot; Joris Veltman; Frans P M Cremers; Rob W J Collin
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.
American journal of human genetics 2010;86(2):240-7.
2010: Margit Schraders; Kwanghyuk Lee; Jaap Oostrik; Patrick Huygen; Ghazanfar Ali; Lies Hoefsloot; Joris Veltman; Frans P M Cremers; Sulman Basit; Muhammad Ansar; Cor W R J Cremers; Henricus P M Kunst; Wasim Ahmad; Ronald J C Admiraal; Suzanne M Leal; Hannie Kremer
Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.
American journal of human genetics 2010;86(2):138-47.
2010: Zafar Iqbal; Pilar Cejudo-Martin; Arjan de Brouwer; Bert van der Zwaag; Pilar Ruiz-Lozano; M Cecilia Scimia; James D Lindsey; Robert Weinreb; Beate Albrecht; Andre Megarbane; Yasemin Alanay; Ziva Ben-Neriah; Mariangela Amenduni; Rosangela Artuso; Joris Veltman; Ellen van Beusekom; Astrid Oudakker; José Luis Millán; Raoul Hennekam; Ben Hamel; Sara A Courtneidge; Hans van Bokhoven
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.
American journal of human genetics 2010;86(2):254-61.
2010: M van Kogelenberg; S Ghedia; G McGillivray; D Bruno; R Leventer; K Macdermot; J Nelson; L Nagarajan; Joris Veltman; A P de Brouwer; R J McKinlay Gardner; H van Bokhoven; E P Kirk; S P Robertson
Periventricular heterotopia in common microdeletion syndromes.
Molecular syndromology 2010;1(1):35-41.
2010: Bregje W M van Bon; David A Koolen; Louise Brueton; Dominic McMullan; Klaske D Lichtenbelt; Lesley C Adès; Gregory Peters; Kate Gibson; Susan Moloney; Francesca Novara; Tiziano Pramparo; Bernardo Dalla Bernardina; Leonardo Zoccante; Umberto Balottin; Fausta Piazza; Vanna Pecile; Paolo Gasparini; Veronica Guerci; Marleen Kets; Rolph Pfundt; Arjan P de Brouwer; Joris Veltman; Nicole de Leeuw; Meredith Wilson; Jayne Antony; Santina Reitano; Daniela Luciano; Marco Fichera; Corrado Romano; Han G Brunner; Orsetta Zuffardi; Bert B A de Vries
The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
European journal of human genetics : EJHG 2010;18(2):163-70.
2009: Karlien L M Coene; Ronald Roepman; Dan Doherty; Bushra Afroze; Hester Y Kroes; Stef J F Letteboer; Lock H Ngu; Bartlomiej Budny; Erwin van Wijk; Nicholas T Gorden; Malika Azhimi; Christel Thauvin-Robinet; Joris Veltman; Mireille Boink; Tjitske Kleefstra; Frans P M Cremers; Hans van Bokhoven; Arjan de Brouwer
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
American journal of human genetics 2009;85(4):465-81.
2009: Lisenka E L M Vissers; samarth Bhatt; Irene M Janssen; Zhilian Xia; Seema R Lalani; Rolph Pfundt; Katarzyna Derwinska; Bert B A de Vries; Christian Gilissen; Alexander Hoischen; Monika Nesteruk; Barbara Wisniowiecka-Kowalnik; Marta Smyk; Han G Brunner; Sau Wai Cheung; Ad Geurts van Kessel; Joris Veltman; Pawel Stankiewicz
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
Human molecular genetics 2009;18(19):3579-93.
2009: Dominic J McMullan; Michael Bonin; Jayne Y Hehir-Kwa; Bert B A de Vries; Andreas Dufke; Eleanor Rattenberry; Marloes Steehouwer; Luminita Moruz; Rolph Pfundt; Nicole de Leeuw; Angelika Riess; Ozge Altug-Teber; Herbert Enders; Sylke Singer; Ute Grasshoff; Michael Walter; Judith M Walker; Catherine V Lamb; E Val Davison; Louise Brueton; Olaf Riess; Joris Veltman
Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study.
Human mutation 2009;30(7):1082-92.
2009: Caleb Webber; Jayne Y Hehir-Kwa; Duc-Quang Nguyen; Bert B A de Vries; Joris Veltman; Chris P Ponting
Forging links between human mental retardation-associated CNVs and mouse gene knockout models.
PLoS genetics 2009;5(6):e1000531.
2009: David A Koolen; Rolph Pfundt; Nicole de Leeuw; Jayne Hehir-Kwa; Willy M Nillesen; Ineke Neefs; Ine Scheltinga; Erik A Sistermans; Dominique Smeets; Han G Brunner; Ad Geurts van Kessel; Joris Veltman; Bert B A de Vries
Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.
Human mutation 2009;30(3):283-92.
2009: Dan Rujescu; Andres Ingason; Sven Cichon; Olli P H Pietiläinen; Michael R Barnes; Timothea Toulopoulou; Marco Picchioni; Evangelos Vassos; Ulrich Ettinger; Elvira Bramon; Robin Murray; Mirella Ruggeri; Sarah Tosato; Chiara Bonetto; Stacy Steinberg; Engilbert Sigurdsson; Thordur Sigmundsson; Hannes Petursson; Arnaldur Gylfason; Pall I Olason; Gudmundur Hardarsson; Gudrun A Jonsdottir; Omar Gustafsson; Ragnheidur Fossdal; Ina Giegling; Hans-Jürgen Möller; Annette M Hartmann; Per Hoffmann; Caroline Crombie; Gillian Fraser; Nicholas Walker; Jouko Lonnqvist; Jaana Suvisaari; Annamari Tuulio-Henriksson; Srdjan Djurovic; Ingrid Melle; Ole A Andreassen; Thomas Hansen; Thomas Werge; Lambertus A Kiemeney; Barbara Franke; Joris Veltman; Jacobine E Buizer-Voskamp; Chiara Sabatti; Roel A Ophoff; Marcella Rietschel; Markus M Nöthen; Kari Stefansson; Leena Peltonen; David St Clair; Hreinn Stefansson; David A Collier
Disruption of the neurexin 1 gene is associated with schizophrenia.
Human molecular genetics 2009;18(5):988-96.
2009: Frédéric Delom; Emma Burt; Alex Hoischen; Joris Veltman; Jürgen Groet; Finbarr E Cotter; Dean Nizetic
Transchromosomic cell model of Down syndrome shows aberrant migration, adhesion and proteome response to extracellular matrix.
Proteome science 2009;7():31.
2008: Duc-Quang Nguyen; Caleb Webber; Jayne Hehir-Kwa; Rolph Pfundt; Joris Veltman; Chris P Ponting
Reduced purifying selection prevails over positive selection in human copy number variant evolution.
Genome research 2008;18(11):1711-23.
2008: D A Koolen; andrew sharp; J A Hurst; H V Firth; S J L Knight; A Goldenberg; P Saugier-Veber; R Pfundt; L E L M Vissers; A Destrée; B Grisart; L Rooms; N Van der Aa; M Field; A Hackett; K Bell; M J M Nowaczyk; G M S Mancini; P J Poddighe; C E Schwartz; E Rossi; M De Gregori; L L Antonacci-Fulton; M D McLellan; J M Garrett; M A Wiechert; T L Miner; S Crosby; R Ciccone; Lionel Willatt; A Rauch; M Zenker; S Aradhya; M A Manning; T M Strom; J Wagenstaller; A C Krepischi-Santos; A M Vianna-Morgante; C Rosenberg; S M Price; H Stewart; C Shaw-Smith; H G Brunner; A O M Wilkie; Joris Veltman; O Zuffardi; Evan E Eichler; B B A de Vries
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.
Journal of medical genetics 2008;45(11):710-20.
2008: Heather C Mefford; andrew sharp; Carl Baker; Andy Itsara; Zhaoshi Jiang; Karen Buysse; Shuwen Huang; Viv K Maloney; John A Crolla; Diana Baralle; Amanda Collins; Catherine Mercer; Koen Norga; Thomy de Ravel; koenraad devriendt; Ernie M H F Bongers; Nicole de Leeuw; William Reardon; stefania gimelli; Frederique Bena; Raoul Hennekam; Alison Male; Lorraine Gaunt; Jill Clayton-Smith; Ingrid Simonic; Soo Mi Park; Sarju G Mehta; Serena Nik-Zainal; C Geoffrey Woods; Helen V Firth; Georgina Parkin; Marco Fichera; Santina Reitano; Mariangela Lo Giudice; Kelly E Li; Iris Casuga; Adam Broomer; Bernard Conrad; Markus Schwerzmann; Lorenz Räber; Sabina Gallati; Pasquale Striano; Antonietta Coppola; John L Tolmie; Edward S Tobias; Chris Lilley; Lluis Armengol; Yves Spysschaert; Patrick Verloo; Anja De Coene; Linde Goossens; Geert Mortier; Frank Speleman; Ellen van Binsbergen; Marcel R Nelen; Ron Hochstenbach; Martin Poot; Louise Gallagher; Michael Gill; Jon McClellan; Mary-Claire King; Regina Regan; Cindy Skinner; Roger E Stevenson; Stylianos Antonarakis; Caifu Chen; Xavier Estivill; Björn Menten; Giorgio Gimelli; Susan Gribble; Stuart Schwartz; James S Sutcliffe; Tom Walsh; Samantha J L Knight; Jonathan Sebat; Corrado Romano; Charles E Schwartz; Joris Veltman; Bert B A de Vries; Joris R Vermeesch; John C K Barber; Lionel Willatt; May Tassabehji; Evan E Eichler
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
The New England journal of medicine 2008;359(16):1685-99.
2008: Terry Vrijenhoek; Jacobine E Buizer-Voskamp; Inge van der Stelt; Eric Strengman; Chiara Sabatti; Ad Geurts van Kessel; Han G Brunner; Roel A Ophoff; Joris Veltman
Recurrent CNVs disrupt three candidate genes in schizophrenia patients.
American journal of human genetics 2008;83(4):504-10.
2008: K Buysse; A Crepel; B Menten; F Pattyn; Francesca Antonacci; Joris Veltman; L A Larsen; Z Tümer; A de Klein; I van de Laar; koenraad devriendt; G Mortier; F Speleman
Mapping of 5q35 chromosomal rearrangements within a genomically unstable region.
Journal of medical genetics 2008;45(10):672-8.
2008: Mariëlle E M Swinkels; Annet Simons; Dominique Smeets; Lisenka E L M Vissers; Joris Veltman; Rolph Pfundt; Bert B A de Vries; B H W Faas; C T R M Schrander-Stumpel; Emma McCann; Elizabeth Sweeney; Paul May; Jos M Th Draaisma; Nine V A M Knoers; Ad Geurts van Kessel; Conny van Ravenswaaij-Arts
Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype.
American journal of medical genetics. Part A 2008;146A(11):1430-8.
2008: Joseph I Friedman; T Vrijenhoek; S Markx; I M Janssen; Walter A Van Der Vliet; B H W Faas; N V Knoers; W Cahn; R S Kahn; Lisa Edelmann; Kenneth L Davis; Jeremy Silverman; Han G Brunner; Ad Geurts van Kessel; cisca wijmenga; R A Ophoff; Joris Veltman
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy.
Molecular psychiatry 2008;13(3):261-6.
2007: Anneke I den Hollander; Irma Lopez; Suzanne Yzer; Marijke N Zonneveld; Irene M Janssen; Tim M Strom; Jayne Hehir-Kwa; Joris Veltman; Maarten L Arends; Thomas Meitinger; Maria A Musarella; L Ingeborgh Van Den Born; Gerald A Fishman; Irene H Maumenee; Klaus Rohrschneider; Frans P M Cremers; Robert K Koenekoop
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
Investigative ophthalmology & visual science 2007;48(12):5690-8.
2007: Dorien Lugtenberg; Joris Veltman; Hans van Bokhoven
High-resolution genomic microarrays for X-linked mental retardation.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(9):560-5.
2007: Ilse Feenstra; Lisenka E L M Vissers; Mirjam Orsel; Ad Geurts van Kessel; Han G Brunner; Joris Veltman; Conny van Ravenswaaij-Arts
Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map.
American journal of medical genetics. Part A 2007;143A(16):1858-67.
2007: Anneke I den Hollander; Robert K Koenekoop; Moin D Mohamed; Heleen H Arts; Karsten Boldt; Katherine V Towns; Tina Sedmak; Monika Beer; Kerstin Nagel-Wolfrum; Martin McKibbin; Sharola Dharmaraj; Irma Lopez; Lenka Ivings; Grange A Williams; Kelly Springell; C Geoff Woods; Hussain Jafri; Yasmin Rashid; Tim M Strom; Bert van der Zwaag; Ilse Gosens; Ferry F J Kersten; Erwin van Wijk; Joris Veltman; Marijke N Zonneveld; Sylvia E C van Beersum; Irene H Maumenee; Uwe Wolfrum; Michael Cheetham; Marius Ueffing; Frans P M Cremers; Chris F Inglehearn; Ronald Roepman
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
Nature genetics 2007;39(7):889-95.
2007: Lisenka E L M Vissers; Pawel Stankiewicz; Svetlana A Yatsenko; E Crawford; H Creswick; V K Proud; Bert B A de Vries; Rolph Pfundt; C L M Marcelis; J Zackowski; Weimin Bi; Ad Geurts van Kessel; James R Lupski; Joris Veltman
Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.
Human genetics 2007;121(6):697-709.
2007: Silke Schlaubitz; Svetlana A Yatsenko; Laurie D Smith; Kory L Keller; Lisenka E L M Vissers; Daryl A Scott; Wei-Wen Cai; William Reardon; Omar A Abdul-Rahman; Edward J Lammer; Caroline A Lifchez; Ellen Magenis; Joris Veltman; Pawel Stankiewicz; Bernhard Zabel; Brendan Lee
Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.
American journal of medical genetics. Part A 2007;143A(10):1071-81.
2007: Joris Veltman; Bert B A de Vries
Whole-genome array comparative genome hybridization: the preferred diagnostic choice in postnatal clinical cytogenetics.
The Journal of molecular diagnostics : JMD 2007;9(2):277.
2007: andrew sharp; Rebecca R Selzer; Joris Veltman; stefania gimelli; Giorgio Gimelli; Pasquale Striano; Antonietta Coppola; Regina Regan; Sue M Price; Nine V A M Knoers; Peggy S Eis; Han G Brunner; Raoul Hennekam; Samantha J L Knight; Bert B A de Vries; Orsetta Zuffardi; Evan E Eichler
Characterization of a recurrent 15q24 microdeletion syndrome.
Human molecular genetics 2007;16(5):567-72.
2007: Jayne Hehir-Kwa; Michael Egmont-Petersen; Irene M Janssen; Dominique Smeets; Ad Geurts van Kessel; Joris Veltman
Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis.
DNA research : an international journal for rapid publication of reports on genes and genomes 2007;14(1):1-11.
2007: Stefan J White; Lisenka E L M Vissers; Ad Geurts van Kessel; Renée X de Menezes; E Kalay; A E Lehesjoki; P C Giordano; Esther van de Vosse; M H Breuning; Han G Brunner; Johan T den Dunnen; Joris Veltman
Variation of CNV distribution in five different ethnic populations.
Cytogenetic and genome research 2007;118(1):19-30.
2007: Joris Veltman
Genomic copy number analysis in mental retardation: finding the needles in the haystack.
European journal of human genetics : EJHG 2007;15(1):1-2.
2006: Joris Veltman
Genomic microarrays in clinical diagnosis.
Current opinion in pediatrics 2006;18(6):598-603.
2006: Y M H Jonkers; S M H Claessen; Ton Feuth; Ad Geurts van Kessel; Frans C S Ramaekers; Joris Veltman; Ernst J M Speel
Novel candidate tumour suppressor gene loci on chromosomes 11q23-24 and 22q13 involved in human insulinoma tumourigenesis.
The Journal of pathology 2006;210(4):450-8.
2006: Piergiorgio Modena; Elena Lualdi; Federica Facchinetti; Joris Veltman; James F Reid; Simone Minardi; Irene Janssen; Felice Giangaspero; Marco Forni; Gaetano Finocchiaro; Lorenzo Genitori; Flavio Giordano; Riccardo Riccardi; Eric F P M Schoenmakers; maura massimino; Gabriella Sozzi
Identification of tumor-specific molecular signatures in intracranial ependymoma and association with clinical characteristics.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2006;24(33):5223-33.
2006: Joris Veltman; Bert B A de Vries
Diagnostic genome profiling: unbiased whole genome or targeted analysis?
The Journal of molecular diagnostics : JMD 2006;8(5):534-7; discussion 537-9.
2006: David A Koolen; Lisenka E L M Vissers; Rolph Pfundt; Nicole de Leeuw; Samantha J L Knight; Regina Regan; R Frank Kooy; Edwin Reyniers; Corrado Romano; Marco Fichera; Albert Schinzel; Alessandra Baumer; Britt-Marie Anderlid; Jacqueline Schoumans; Nine V A M Knoers; Ad Geurts van Kessel; Erik A Sistermans; Joris Veltman; Han G Brunner; Bert B A de Vries
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.
Nature genetics 2006;38(9):999-1001.
2006: Mariken Ruiter; David A Koolen; Rolph Pfundt; Nicole de Leeuw; Harry M J Klinkers; Erik A Sistermans; Joris Veltman; Bert B A de Vries
A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation.
Clinical dysmorphology 2006;15(3):133-7.
2006: Dorien Lugtenberg; Arjan de Brouwer; Tjitske Kleefstra; Astrid R Oudakker; Suzanna G M Frints; C T R M Schrander-Stumpel; Jean-Pierre Fryns; Lars Riff Jensen; Jamel Chelly; Claude Moraine; Gillian Turner; Joris Veltman; Ben C J Hamel; Bert B A de Vries; Hans van Bokhoven; Helger G Yntema
Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.
Journal of medical genetics 2006;43(4):362-70.
2006: Marjolijn Jongmans; Ronald J C Admiraal; Kim P van der Donk; Lisenka E L M Vissers; A F Baas; Livia Kapusta; J M van Hagen; D Donnai; T J de Ravel; Joris Veltman; Ad Geurts van Kessel; Bert B A de Vries; Han G Brunner; Lies Hoefsloot; Conny van Ravenswaaij-Arts
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.
Journal of medical genetics 2006;43(4):306-14.
2006: Tjitske Kleefstra; David A Koolen; Willy M Nillesen; Nicole de Leeuw; Ben C J Hamel; Joris Veltman; Erik A Sistermans; Hans van Bokhoven; Conny van Ravenswaay; Bert B A de Vries
Interstitial 2.2 Mb deletion at 9q34 in a patient with mental retardation but without classical features of the 9q subtelomeric deletion syndrome.
American journal of medical genetics. Part A 2006;140(6):618-23.
2006: Y M H Jonkers; S M H Claessen; Joris Veltman; Ad Geurts van Kessel; Winand N M Dinjens; B Skogseid; Frans C S Ramaekers; Ernst J M Speel
Molecular parameters associated with insulinoma progression: chromosomal instability versus p53 and CK19 status.
Cytogenetic and genome research 2006;115(3-4):289-97.
2006: David A Koolen; Jos Herbergs; Joris Veltman; Rolph Pfundt; Hans van Bokhoven; Hans Stroink; Erik A Sistermans; Han G Brunner; Ad Geurts van Kessel; Bert B A de Vries
Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.
Journal of human genetics 2006;51(8):721-6.
2006: Leendert H J Looijenga; Remko Hersmus; Ad J M Gillis; Rolph Pfundt; hans stoop; Ruud van Gurp; Joris Veltman; Berna Beverloo; Ellen van Drunen; Ad Geurts van Kessel; Renee Reijo Pera; Dominik Schneider; Brenda Summersgill; Janet Shipley; Alan McIntyre; Peter van der Spek; Eric F P M Schoenmakers; J Wolter Oosterhuis
Genomic and expression profiling of human spermatocytic seminomas: primary spermatocyte as tumorigenic precursor and DMRT1 as candidate chromosome 9 gene.
Cancer research 2006;66(1):290-302.
2005: Lisenka E L M Vissers; Joris Veltman; Ad Geurts van Kessel; Han G Brunner
Identification of disease genes by whole genome CGH arrays.
Human molecular genetics 2005;14 Spec No. 2():R215-23.
2005: Bert B A de Vries; Rolph Pfundt; Martijn A R Leisink; David A Koolen; Lisenka E L M Vissers; Irene M Janssen; Simon van Reijmersdal; Willy M Nillesen; Erik H L P G Huys; Nicole de Leeuw; Dominique Smeets; Erik A Sistermans; Ton Feuth; Conny van Ravenswaaij-Arts; Ad Geurts van Kessel; Eric F P M Schoenmakers; Han G Brunner; Joris Veltman
Diagnostic genome profiling in mental retardation.
American journal of human genetics 2005;77(4):606-16.
2005: David A Koolen; William Reardon; Elisabeth M Rosser; Didier Lacombe; Jane A Hurst; Caroline J Law; Ernie M H F Bongers; Conny van Ravenswaaij-Arts; Martijn A R Leisink; Ad Geurts van Kessel; Joris Veltman; Bert B A de Vries
Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation.
European journal of human genetics : EJHG 2005;13(9):1019-24.
2005: Imke M Veltman; Joris Veltman; Irene M Janssen; Christina A Hulsbergen-van de Kaa; Wolter Oosterhuis; Dominik Schneider; hans stoop; Ad Gillis; Susanne Zahn; Leendert H J Looijenga; Ulrich Göbel; Ad Geurts van Kessel
Identification of recurrent chromosomal aberrations in germ cell tumors of neonates and infants using genomewide array-based comparative genomic hybridization.
Genes, chromosomes & cancer 2005;43(4):367-76.
2005: Markus Heidenblad; David Lindgren; Joris Veltman; Tord Jonson; Eija H Mahlamäki; Ludmila Gorunova; Ad Geurts van Kessel; Eric F P M Schoenmakers; Mattias Höglund
Microarray analyses reveal strong influence of DNA copy number alterations on the transcriptional patterns in pancreatic cancer: implications for the interpretation of genomic amplifications.
Oncogene 2005;24(10):1794-801.
2004: David A Koolen; Joris Veltman; Willy O Renier; Richard P Droog; Ad Geurts van Kessel; Bert B A de Vries
Chromosome 22q11 deletion and pachygyria characterized by array-based comparative genomic hybridization.
American journal of medical genetics. Part A 2004;131(3):322-4.
2004: Lisenka E L M Vissers; Conny van Ravenswaaij-Arts; Ronald J C Admiraal; Jane A Hurst; Bert B A de Vries; Irene M Janssen; Walter A Van Der Vliet; Erik H L P G Huys; Pieter J de Jong; Ben C J Hamel; Eric F P M Schoenmakers; Han G Brunner; Joris Veltman; Ad Geurts van Kessel
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.
Nature genetics 2004;36(9):955-7.
2004: Joris Veltman; Helger G Yntema; Dorien Lugtenberg; H Arts; Sylvain Briault; Erik H L P G Huys; Kazutoyo Osoegawa; Pieter de Jong; Han G Brunner; Ad Geurts van Kessel; Hans van Bokhoven; Eric F P M Schoenmakers
High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation.
Journal of medical genetics 2004;41(6):425-32.
2004: Markus Heidenblad; Eric F P M Schoenmakers; Tord Jonson; Ludmila Gorunova; Joris Veltman; Ad Geurts van Kessel; Mattias Höglund
Genome-wide array-based comparative genomic hybridization reveals multiple amplification targets and novel homozygous deletions in pancreatic carcinoma cell lines.
Cancer research 2004;64(9):3052-9.
2004: David A Koolen; Lisenka E L M Vissers; Willy M Nillesen; Dominique Smeets; Conny van Ravenswaaij-Arts; Erik A Sistermans; Joris Veltman; Bert B A de Vries; B D A de Vries
A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array-based comparative genomic hybridization.
Clinical genetics 2004;65(5):429-32.
2004: Karin G Hermans; Dirk C van Alewijk; Joris Veltman; Wytske M Van Weerden; Ad Geurts van Kessel; Jan Trapman
Loss of a small region around the PTEN locus is a major chromosome 10 alteration in prostate cancer xenografts and cell lines.
Genes, chromosomes & cancer 2004;39(3):171-84.
2003: Lisenka E L M Vissers; Bert B A de Vries; Kazutoyo Osoegawa; Irene M Janssen; Ton Feuth; Chik On Choy; huub straatman; Walter A Van Der Vliet; Erik H L P G Huys; Anke van Rijk; Dominique Smeets; Conny van Ravenswaaij-Arts; Nine V A M Knoers; Ineke van der Burgt; Pieter J de Jong; Han G Brunner; Ad Geurts van Kessel; Eric F P M Schoenmakers; Joris Veltman
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.
American journal of human genetics 2003;73(6):1261-70.
2003: Imke M Veltman; Joris Veltman; Ger Arkesteijn; Irene M Janssen; Lisenka E L M Vissers; Pieter J de Jong; Ad Geurts van Kessel; Eric F P M Schoenmakers
Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomes.
BioTechniques 2003;35(5):1066-70.
2003: Gaetano Zafarana; Beata Grygalewicz; Ad J M Gillis; Lisenka E L M Vissers; Walter van de Vliet; Ruud van Gurp; hans stoop; Maria Debiec-Rychter; J Wolter Oosterhuis; Ad Geurts van Kessel; Eric F P M Schoenmakers; Leendert H J Looijenga; Joris Veltman
12p-amplicon structure analysis in testicular germ cell tumors of adolescents and adults by array CGH.
Oncogene 2003;22(48):7695-701.
2003: Joris Veltman; Jane Fridlyand; Sunanda Pejavar; Adam B Olshen; James Korkola; Sandy Devries; Peter Carroll; Wen-Lin Kuo; Daniel Pinkel; Donna Albertson; Carlos Cordon-Cardo; Ajay N Jain; Frederic M Waldman
Array-based comparative genomic hybridization for genome-wide screening of DNA copy number in bladder tumors.
Cancer research 2003;63(11):2872-80.
2003: Joris Veltman; Yvonne Jonkers; Inge Nuijten; Irene M Janssen; Walter A Van Der Vliet; Erik H L P G Huys; Joris R Vermeesch; Griet Van Buggenhout; Jean-Pierre Fryns; Ronald J C Admiraal; Paulien Terhal; Didier Lacombe; Ad Geurts van Kessel; Dominique Smeets; Eric F P M Schoenmakers; Conny van Ravenswaaij-Arts
Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH.
American journal of human genetics 2003;72(6):1578-84.
2003: F H van der Westhuizen; Lambert P van den Heuvel; Roel Smeets; Joris Veltman; Rolph Pfundt; Ad Geurts van Kessel; B M Ursing; Jan A M Smeitink
Human mitochondrial complex I deficiency: investigating transcriptional responses by microarray.
Neuropediatrics 2003;34(1):14-22.
2003: Leendert H J Looijenga; Gaetano Zafarana; Beata Grygalewicz; Brenda Summersgill; Maria Debiec-Rychter; Joris Veltman; Eric F P M Schoenmakers; Sandrine Rodriguez; Osman Jafer; Jeremy Clark; Ad Geurts van Kessel; Janet Shipley; Ruud van Gurp; Ad J M Gillis; J Wolter Oosterhuis
Role of gain of 12p in germ cell tumour development.
APMIS : acta pathologica, microbiologica, et immunologica Scandinavica 2003;111(1):161-71; discussion 172-3.
2002: Joris Veltman; Eric F P M Schoenmakers; Bert H J Eussen; Irene M Janssen; Gerard F M Merkx; Brigitte van Cleef; Conny van Ravenswaaij-Arts; Han G Brunner; Dominique Smeets; Ad Geurts van Kessel
High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization.
American journal of human genetics 2002;70(5):1269-76.
2002: Mónica Wilhelm; Joris Veltman; Adam B Olshen; Ajay N Jain; Dan H Moore; Joe C Presti; Gyula Kovacs; Frederic M Waldman
Array-based comparative genomic hybridization for the differential diagnosis of renal cell cancer.
Cancer research 2002;62(4):957-60.
2001: Joris Veltman; I van Weert; M Aubele; Fredrik J Bot; Frans C S Ramaekers; Johannes J Manni; Anton H N Hopman
Specific steps in aneuploidization correlate with loss of heterozygosity of 9p21, 17p13 and 18q21 in the progression of pre-malignant laryngeal lesions.
International journal of cancer. Journal international du cancer 2001;91(2):193-9.
2001: P P van der Toorn; Joris Veltman; Fredrik J Bot; J M B V de Jong; J J Manni; Frans C S Ramaekers; Anton H N Hopman
Mapping of resection margins of oral cancer for p53 overexpression and chromosome instability to detect residual (pre)malignant cells.
The Journal of pathology 2001;193(1):66-72.
2000: Joris Veltman; Fredrik J Bot; F C Huynen; Frans C S Ramaekers; Johannes J Manni; Anton H N Hopman
Chromosome instability as an indicator of malignant progression in laryngeal mucosa.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2000;18(8):1644-51.
1998: Joris Veltman; Anton H N Hopman; S A van der Vlies; Fredrik J Bot; Frans C S Ramaekers; Johannes J Manni
Double-target fluorescence in situ hybridization distinguishes multiple genetically aberrant clones in head and neck squamous cell carcinoma.
Cytometry 1998;34(3):113-20.
1997: Joris Veltman; Anton H N Hopman; Fredrik J Bot; Frans C S Ramaekers; Johannes J Manni
Detection of chromosomal aberrations in cytologic brush specimens from head and neck squamous cell carcinoma.
Cancer 1997;81(5):309-14.
1997: Fernando A. Arosa; L Oliveira; Graça Porto; B M da Silva; Wiebe Kruijer; Joris Veltman; Maria de Sousa
Anomalies of the CD8+ T cell pool in haemochromatosis: HLA-A3-linked expansions of CD8+CD28- T cells.
Clinical and experimental immunology 1997;107(3):548-54.