Joris Vermeesch

发表

Next Generation Sequencing (NGS) as a tool for molecular diagnostics: practical aspects of validation and data analysis

G Michils, Silke Hollants, Jeroen Van Houdt, 2010 .

Quality Assessment scheme for Constitutional Molecular Karyotyping: lessons from

Joris Vermeesch, David E. Barton, H Gabriel, 2011 .

Bench and Array-CGH: information modeling for constitutional cytogenetics

Yves Moreau, Joris Vermeesch, Steven Van Vooren, 2008 .

Evaluation of a custom mendeliome for diagnostic genetic testing

Jeroen Van Houdt, Joris Vermeesch, Gert Matthijs, 2016 .

Annotate-it: a framework and web-interface for the archival, management and interpretation of single nucleotide variants obtained by next generation sequencing

Yves Moreau, Jeroen Van Houdt, Joris Vermeesch, 2011 .

International Standardised Cytogenomic Array (ISCA) Consortium : an approach to the design, implementation and reporting of constitutional oligo array-cgh

Joris Vermeesch, David H. Ledbetter, John A. Crolla, 2009 .

Making array CHG technology accessible for Congolese patients using stripped slides

Joris Vermeesch, Nathalie Brison, Hilde Peeters, 2014 .

Haplotyping single cells by using extended family members: an expanding option for PGD

Joris Vermeesch, Cindy Melotte, Jia Ding, 2017 .

Bringing array CGH from the scientific into the diagnostic laboratory

Joris Vermeesch, 2006 .

NGS-Logistics: data infrastructure for efficient analysis of NGS sequence variants

Yves Moreau, Joris Vermeesch, Luc Dehaspe, 2012 .

Detection of low grade mosaics by array CGH

Joris Vermeesch, Cindy Melotte, Koenraad Devriendt, 2005 .

Detection of Low-Level Mosaicisms using Array CGH

Joris Vermeesch, Gert Matthijs, Ilse Vanhevel, 2009 .

Haplotyping and copy-number profiling of single cells by massive parallel sequencing

Joris Vermeesch, Heleen Masset, Eftychia Dimitriadou, 2017 .

Analytical and computational performance of variant calling pipelines for targeted NGS gene panels

Joris Vermeesch, Erika Souche, L Dehaspe, 2017 .

Development of a novel ozone- and photo-stable HyPer5 red fluorescent dye for array CGH and microarray gene expression analysis with consistent performance irrespective of environmental conditions

Joris Vermeesch, Peter Kille, Thierry Voet, 2008, BMC biotechnology.

A 10.46 Mb 12p11.1–12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism

Joris Vermeesch, J. Vermeesch, Yasemin Soysal, 2011, American journal of medical genetics. Part A.

Fetal surgery is a clinical reality.

Zeger Debyser, Joris Vermeesch, Gunnar Naulaers, 2010, Seminars in fetal & neonatal medicine.

Mapping biomedical concepts onto the human genome by mining literature on chromosomal aberrations

Bart De Moor, Yves Moreau, Joris Vermeesch, 2007, Nucleic acids research.