Joris Veltman

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	All	Since 2016
Citations	27662	13250
h-index	86	59
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Co-authors

Christian GilissenRadboud university medical centerVerified email at radboudumc.nl
Lisenka VissersVerified email at radboudumc.nl
Alexander HoischenUniversity Medical Centre NijmegenVerified email at gen.umcn.nl
Conny van Ravenswaaij-ArtsProfessor in Dysmorphology, Department of Genetics, UMC Groningen, University of GroningenVerified email at umcg.nl
Joep de LigtLead - Bioinformatics and Genomics @ ESR, NZVerified email at esr.cri.nz
Pieter de JongCHORIVerified email at chori.org
Terry VrijenhoekStaf and faculteit advisor Department of Genetics, UMC UtrechtVerified email at umcutrecht.nl
Stefan LelieveldDepartment of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud UniversityVerified email at radboudumc.nl
Roel A. OphoffProfessor of Psychiatry and Human Genetics, University of California Los AngelesVerified email at ucla.edu
Rocío Acuña HidalgoNostos GenomicsVerified email at nostos-genomics.com
Alejandro Arias VasquezAssociate ProfessorVerified email at radboudumc.nl
Leo JoostenRadboud UMC Nijmegen, Iuliu Hatieganu University of Medicine and Pharmacy Cluj-NapocaVerified email at radboudumc.nl
Barbara FrankeProfessor of Molecular PsychiatryVerified email at radboudumc.nl
Martijn HuynenCMBI, Radboud University Medical CentreVerified email at cmbi.ru.nl
Leendert LooijengaProfessor Translational Patho-OncologyVerified email at prinsesmaximacentrum.nl
Desa LilicNewcastle University UKVerified email at ncl.ac.uk
devriendtprofessor in genetics leuvenVerified email at uzleuven.be
Evan EichlerProfessor of Genome Sciences, University of WashingtonVerified email at gs.washington.edu
Michele PinelliTelethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, ItalyVerified email at tigem.it
Richard RodenburgClinical Laboratory GeneticistVerified email at radboudumc.nl

Joris Veltman

Institute of Genetic Medicine, Newcastle University, United Kingdom

Verified email at newcastle.ac.uk - Homepage

genomics human genetics infertility


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Diagnostic exome sequencing in persons with severe intellectual disability J De Ligt, MH Willemsen, BWM Van Bon, T Kleefstra, HG Yntema, T Kroes, ... New England Journal of Medicine 367 (20), 1921-1929, 2012	1294	2012
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome LELM Vissers, CMA van Ravenswaaij, R Admiraal, JA Hurst, ... Nature genetics 36 (9), 955-957, 2004	1132	2004
Genome sequencing identifies major causes of severe intellectual disability C Gilissen, JY Hehir-Kwa, DT Thung, M van de Vorst, BWM van Bon, ... Nature 511 (7509), 344-347, 2014	893	2014
A de novo paradigm for mental retardation LELM Vissers, J de Ligt, C Gilissen, I Janssen, M Steehouwer, P de Vries, ... Nature genetics 42 (12), 1109-1112, 2010	795	2010
Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ... New England Journal of Medicine 359 (16), 1685-1699, 2008	728	2008
De novo mutations in human genetic disease JA Veltman, HG Brunner Nature Reviews Genetics 13 (8), 565-575, 2012	662	2012
Diagnostic genome profiling in mental retardation BBA De Vries, R Pfundt, M Leisink, DA Koolen, LELM Vissers, IM Janssen, ... The American Journal of Human Genetics 77 (4), 606-616, 2005	626	2005
Identification of common variants associated with human hippocampal and intracranial volumes JL Stein, SE Medland, AA Vasquez, DP Hibar, RE Senstad, AM Winkler, ... Nature genetics 44 (5), 552-561, 2012	581	2012
STAT1 Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis FL van de Veerdonk, TS Plantinga, A Hoischen, SP Smeekens, ... New England Journal of Medicine 365 (1), 54-61, 2011	540	2011
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome A Hoischen, BWM van Bon, C Gilissen, P Arts, B van Lier, M Steehouwer, ... Nature genetics 42 (6), 483-485, 2010	505	2010
Disruption of the neurexin 1 gene is associated with schizophrenia D Rujescu, A Ingason, S Cichon, OPH Pietiläinen, MR Barnes, ... Human molecular genetics 18 (5), 988-996, 2009	505	2009
Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities LELM Vissers, BBA de Vries, K Osoegawa, IM Janssen, T Feuth, CO Choy, ... The American Journal of Human Genetics 73 (6), 1261-1270, 2003	505	2003
Genetic studies in intellectual disability and related disorders LELM Vissers, C Gilissen, JA Veltman Nature Reviews Genetics 17 (1), 9-18, 2016	483	2016
Disease gene identification strategies for exome sequencing C Gilissen, A Hoischen, HG Brunner, JA Veltman European Journal of Human Genetics 20 (5), 490-497, 2012	478	2012
A new chromosome 17q21. 31 microdeletion syndrome associated with a common inversion polymorphism DA Koolen, LELM Vissers, R Pfundt, N De Leeuw, SJL Knight, R Regan, ... Nature genetics 38 (9), 999-1001, 2006	440	2006
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene MCJ Jongmans, RJ Admiraal, KP Van der Donk, L Vissers, AF Baas, ... Journal of medical genetics 43 (4), 306-314, 2006	393	2006
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta J Becker, O Semler, C Gilissen, Y Li, HJ Bolz, C Giunta, C Bergmann, ... The American Journal of Human Genetics 88 (3), 362-371, 2011	338	2011
CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy JI Friedman, T Vrijenhoek, S Markx, IM Janssen, WA Van Der Vliet, ... Molecular psychiatry 13 (3), 261-266, 2008	327	2008
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome C Gilissen, HH Arts, A Hoischen, L Spruijt, DA Mans, P Arts, B van Lier, ... The American Journal of Human Genetics 87 (3), 418-423, 2010	305	2010
Unlocking Mendelian disease using exome sequencing C Gilissen, A Hoischen, HG Brunner, JA Veltman Genome biology 12 (9), 1-11, 2011	303	2011

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