Joris Vermeesch

Research interests

Publications

• Improved reference genome for the domestic horse increases assembly contiguity and composition

  Communications Biology · 2018 · https://doi.org/10.1038/s42003-018-0199-z

• Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics

  Nucleic Acids Research · 2018 · https://doi.org/10.1093/nar/gky066

• 22q11.2 deletion syndrome

  Nature Reviews Disease Primers · 2015 · https://doi.org/10.1038/nrdp.2015.71

• Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing

  JAMA Oncology · 2015 · https://doi.org/10.1001/jamaoncol.2015.1883

• Non-invasive detection of genomic imbalances in Hodgkin/Reed-Sternberg cells in early and advanced stage Hodgkin's lymphoma by sequencing of circulating cell-free DNA: a technical proof-of-principle study

  The Lancet Haematology · 2015 · https://doi.org/10.1016/s2352-3026(14)00039-8

• Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

  The American Journal of Human Genetics · 2014 · https://doi.org/10.1016/j.ajhg.2014.07.003

• A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

  Human Molecular Genetics · 2013 · https://doi.org/10.1093/hmg/ddt366

• Mosaic Copy Number Variation in Human Neurons

  Science · 2013 · https://doi.org/10.1126/science.1243472

• Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

  Nature Genetics · 2012 · https://doi.org/10.1038/ng.1105

• Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

  The American Journal of Human Genetics · 2010 · https://doi.org/10.1016/j.ajhg.2010.04.006

• Chromosome instability is common in human cleavage-stage embryos

  Nature Medicine · 2009 · https://doi.org/10.1038/nm.1924

• Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

  Journal of Medical Genetics · 2009 · https://doi.org/10.1136/jmg.2008.063412

• Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

  Journal of Medical Genetics · 2008 · https://doi.org/10.1136/jmg.2007.055202

• Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

  New England Journal of Medicine · 2008 · https://doi.org/10.1056/nejmoa0805384

• Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients

  Journal of Medical Genetics · 2007 · https://doi.org/10.1136/jmg.2007.052787

• Fusion of NUP214 to ABL1 on amplified episomes in T-cell acute lymphoblastic leukemia

  Nature Genetics · 2004 · https://doi.org/10.1038/ng1425

• Skeletal muscle repair by adult human mesenchymal stem cells from synovial membrane

  The Journal of Cell Biology · 2003 · https://doi.org/10.1083/jcb.200212064

Current projects

No projects listed.