Irene M. Janssen
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1
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214
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About
Irene M. Janssen is a leading figure in human genetics, whose work has fundamentally advanced the detection and understanding of chromosomal abnormalities. Her primary research focuses on the development and application of high-resolution genomic technologies, particularly array-based comparative genomic hybridization (array CGH), to map structural variations in the human genome. Janssen’s most influential contribution is her pioneering 2002 paper, "High-Throughput Analysis of Subtelomeric Chromosome Rearrangements by Use of Array-Based Comparative Genomic Hybridization," which has garnered over 214 citations. This landmark study revolutionized the diagnosis of cryptic subtelomeric imbalances, enabling the high-throughput, genome-wide screening of chromosomal rearrangements that were previously undetectable by conventional karyotyping. By providing a robust method for identifying submicroscopic deletions and duplications, Janssen’s work has been instrumental in uncovering the genetic basis of intellectual disability, congenital anomalies, and cancer. Her contributions have not only shaped clinical cytogenetics but have also paved the way for modern genomic medicine, making her a key architect of the tools used to explore the fine-scale architecture of the human genome.
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