Joris A Veltman

发表

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

Gert Jan van der Wilt, Janneke Grutters, Han G Brunner, 2017, Genetics in Medicine.

Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life.

Christian Gilissen, Alexander Hoischen, Maartje van de Vorst, 2017, American journal of human genetics.

Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes.

Fabrice de Chaumont, Marie-Claude Potier, Alexander Hoischen, 2012, Human molecular genetics.

High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization.

Han G Brunner, Dominique Smeets, J. Veltman, 2002, American journal of human genetics.

Mobster: accurate detection of mobile element insertions in next generation sequencing data

Kai Ye, Jayne Y Hehir-Kwa, J. Hehir-Kwa, 2014, Genome Biology.

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

Christian Gilissen, Johannes Zschocke, Radek Szklarczyk, 2013, Human molecular genetics.

Massively parallel sequencing of ataxia genes after array‐based enrichment

Christian Gilissen, Alexander Hoischen, Nienke Wieskamp, 2010, Human mutation.

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.

Ton Feuth, Kazutoyo Osoegawa, Han G Brunner, 2003, American journal of human genetics.

Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

Christian Gilissen, Annette Schenck, Koenraad Devriendt, 2012, American journal of human genetics.

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

Christian Gilissen, Alexander Hoischen, Tomoko Tahira, 2013, Proceedings of the National Academy of Sciences.

Diagnostic genome profiling: unbiased whole genome or targeted analysis?

B. D. de Vries, J. Veltman, Bert B A de Vries, 2006, The Journal of molecular diagnostics : JMD.

Array-based comparative genomic hybridization for the differential diagnosis of renal cell cancer.

Ajay N. Jain, Ajay N Jain, F. Waldman, 2002, Cancer research.

Unlocking Mendelian disease using exome sequencing

Christian Gilissen, Alexander Hoischen, Han G Brunner, 2011, Genome Biology.

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2016, Nature Communications.

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Han G Brunner, L. Vissers, J. Veltman, 2004, Nature Genetics.

High density gene expression microarrays and gene ontology analysis for identifying processes in implanted tissue engineering constructs.

Christian Gilissen, J. Veltman, C. Gilissen, 2010, Biomaterials.

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.

Christian Gilissen, Alexander Hoischen, Han G Brunner, 2010, American journal of human genetics.

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Christian Gilissen, Alexander Hoischen, Alex Henderson, 2010, Nature Genetics.

Is the $1000 Genome as Near as We Think? A Cost Analysis of Next-Generation Sequencing.

Gert Jan van der Wilt, Janneke P C Grutters, J. Veltman, 2016, Clinical chemistry.

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

Edwin Cuppen, Marcel Nelen, Wilfred F J van IJcken, 2015, European Journal of Human Genetics.

Microarray analyses reveal strong influence of DNA copy number alterations on the transcriptional patterns in pancreatic cancer: implications for the interpretation of genomic amplifications

Mattias Höglund, David Lindgren, J. Veltman, 2005, Oncogene.

Whole‐exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D‐2‐hydroxyglutaric aciduria (MC‐HGA)

Sheila Unger, Andrea Superti-Furga, Ahmet Dursun, 2011, American journal of medical genetics. Part A.

Identification of disease genes by whole genome CGH arrays.

Han G Brunner, L. Vissers, J. Veltman, 2005, Human molecular genetics.

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

Christian Gilissen, Bonnie Nijhof, Annette Schenck, 2013, Human molecular genetics.

A de novo paradigm for mental retardation

Christian Gilissen, Alexander Hoischen, Nienke Wieskamp, 2010, Nature Genetics.

Array-based comparative genomic hybridization for genome-wide screening of DNA copy number in bladder tumors.

Wen-Lin Kuo, Jane Fridlyand, Ajay N. Jain, 2003, Cancer research.

Disease gene identification strategies for exome sequencing

Christian Gilissen, Alexander Hoischen, Han G Brunner, 2012, European Journal of Human Genetics.

Diagnostic genome profiling in mental retardation.

Ton Feuth, Martijn A. R. Leisink, Erik A Sistermans, 2005, American journal of human genetics.