Joris A. Veltman

发表

Accurate Distinction of Pathogenic from Benign CNVs in Mental Retardation

Caleb Webber, Chris P. Ponting, Christian Gilissen, 2010, PLoS Comput. Biol..

Targeted Next Generation Sequencing As A Powerful Diagnostic Tool For RP

Christian Gilissen, Joris A. Veltman, Kornelia Neveling, 2011 .

Genetic Variation in CACNA1C, a Gene Associated with Bipolar Disorder, Influences Brainstem Rather than Gray Matter Volume in Healthy Individuals

Guillén Fernández, Mark Rijpkema, Han G. Brunner, 2010, Biological Psychiatry.

From genes to genomes in the clinic

Joris A. Veltman, J. Lupski, J. Veltman, 2015, Genome Medicine.

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Christian Gilissen, Han G. Brunner, Michael F. Buckley, 2012, Nature Genetics.

Validation Study of Existing Gene Expression Signatures for Anti-TNF Treatment in Patients with Rheumatoid Arthritis

Christian Gilissen, Erik J. M. Toonen, Marieke J. H. Coenen, 2012, PloS one.

Forging Links between Human Mental Retardation–Associated CNVs and Mouse Gene Knockout Models

Caleb Webber, Chris P. Ponting, Jayne Y. Hehir-Kwa, 2009, PLoS genetics.

Diagnostic exome sequencing in persons with severe intellectual disability.

Christian Gilissen, Alexander Hoischen, Han G. Brunner, 2012, New England Journal of Medicine.

Genome-Wide Profiling of p63 DNA–Binding Sites Identifies an Element that Regulates Gene Expression during Limb Development in the 7q21 SHFM1 Locus

Bas E. Dutilh, Alexander Hoischen, Martijn A. Huynen, 2010, PLoS genetics.

Novel bioinformatic developments for exome sequencing

Christian Gilissen, Joris A. Veltman, J. Veltman, 2016, Human Genetics.

New insights into the generation and role of de novo mutations in health and disease

Alexander Hoischen, Joris A. Veltman, A. Hoischen, 2016, Genome Biology.

Next-generation genetic testing for retinitis pigmentosa

Christian Gilissen, Alexander Hoischen, Michael F. Buckley, 2012, Human mutation.

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

Michael Egmont-Petersen, Jayne Y. Hehir-Kwa, Joris A. Veltman, 2007, DNA research : an international journal for rapid publication of reports on genes and genomes.