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List of works by Irene M Janssen

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

scientific article

Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomes

scientific article published on November 2003

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

scientific article published on 27 October 2016

Diagnostic genome profiling in mental retardation

scientific article

Genome sequencing identifies major causes of severe intellectual disability

scientific article

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

scientific article

Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice

scientific article

Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.

scientific article published on 11 October 2013

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

scientific article

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

scientific article

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture

scientific article

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