Joris Veltman

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Christian GilissenRadboud university medical centerVerified email at radboudumc.nl
Lisenka VissersProfessor of Translational Genomics 🧬Verified email at radboudumc.nl
Conny van Ravenswaaij-ArtsProfessor in Dysmorphology, Department of Genetics, UMC Groningen, University of GroningenVerified email at umcg.nl
Joep de LigtLead Data @ Hartwig Medical Foundation (NL)Verified email at hartwigmedicalfoundation.nl
Pieter de JongCHORIVerified email at chori.org
Stefan LelieveldPrincess Máxima Center for Pediatric OncologyVerified email at prinsesmaximacentrum.nl
Terry VrijenhoekStaf and faculteit advisor Department of Genetics, UMC UtrechtVerified email at umcutrecht.nl
Rocío Acuña HidalgoNostos GenomicsVerified email at nostos-genomics.com
devriendtprofessor in genetics leuvenVerified email at uzleuven.be
Roel A. OphoffProfessor of Psychiatry and Human Genetics, University of California Los AngelesVerified email at ucla.edu
Martijn HuynenMBS, Radboud University Medical CentreVerified email at radboudumc.nl
Leo JoostenRadboud UMC Nijmegen, Iuliu Hatieganu University of Medicine and Pharmacy Cluj-NapocaVerified email at radboudumc.nl
Evan EichlerProfessor of Genome Sciences, University of WashingtonVerified email at gs.washington.edu
Alejandro Arias VasquezAssociate ProfessorVerified email at radboudumc.nl
Richard RodenburgClinical Laboratory GeneticistVerified email at radboudumc.nl
Barbara FrankeProfessor of Molecular PsychiatryVerified email at radboudumc.nl
Desa LilicNewcastle University UKVerified email at ncl.ac.uk
Leendert LooijengaProfessor Translational Patho-OncologyVerified email at prinsesmaximacentrum.nl
Jamie M. KramerDalhousie UniversityVerified email at dal.ca
Simone van der BurgSenior researcher, project leaderVerified email at wur.nl

Joris Veltman

Institute of Genetics & Cancer, University of Edinburgh, United Kingdom

Verified email at ed.ac.uk - Homepage

genomics human genetics infertility


Title Sort by citations Sort by year Sort by title	Cited by Cited by	Year
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	1861	2012
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	1410	2014
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	1401	2004
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	990	2010
De novo mutations in human genetic disease JA Veltman, HG Brunner Nature Reviews Genetics 13 (8), 565-575, 2012	954	2012
Genetic studies in intellectual disability and related disorders LELM Vissers, C Gilissen, JA Veltman Nature Reviews Genetics 17 (1), 9-18, 2016	931	2016
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	858	2008
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	749	2011
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	729	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	687	2005
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	637	2012
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	619	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	606	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	561	2003
A recent bottleneck of Y chromosome diversity coincides with a global change in culture M Karmin, L Saag, M Vicente, MAW Sayres, M Järve, UG Talas, S Rootsi, ... Genome research 25 (4), 459-466, 2015	527	2015
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	525	2006
New insights into the generation and role of de novo mutations in health and disease R Acuna-Hidalgo, JA Veltman, A Hoischen Genome biology 17, 1-19, 2016	522	2016
Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability SH Lelieveld, MRF Reijnders, R Pfundt, HG Yntema, EJ Kamsteeg, ... Nature neuroscience 19 (9), 1194-1196, 2016	516	2016
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	510	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	430	2011

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