M. Hestand

发表

Genome-wide assessment of differential roles for p300 and CBP in transcription regulation

J. D. den Dunnen, P. ’. ‘t Hoen, Yolande F M Ramos, 2010, Nucleic acids research.

Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements.

E. Zackai, B. Morrow, K. Devriendt, 2017, American journal of human genetics.

Single-Molecule Sequencing: Towards Clinical Applications.

Adam Ameur, Wigard P Kloosterman, A. Ameur, 2019, Trends in biotechnology.

Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single‐Molecule Sequencing

K. Devriendt, J. Vermeesch, M. Hestand, 2017, Human mutation.

Extreme enrichment of VNTR-associated polymorphicity in human subtelomeres: genes with most VNTRs are predominantly expressed in the brain

J. Korlach, M. Reinders, J. Vermeesch, 2020, Translational Psychiatry.

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

Ian T. Fiddes, Brendan L. O’Connell, B. Walenz, 2018, Communications Biology.

The 22q11 low copy repeats are characterized by unprecedented size and structural variability.

T. Shaikh, P. Kwok, M. Xiao, 2019, Genome research.

A catalog of hemizygous variation in 127 22q11 deletion patients

E. Zackai, R. Gur, S. Warren, 2016, Human Genome Variation.

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

A. Ameur, J. Vermeesch, M. Hestand, 2018, Nucleic acids research.

GBSX: a toolkit for experimental design and demultiplexing genotyping by sequencing experiments

J. Vermeesch, M. Hestand, Koen Herten, 2015, BMC Bioinformatics.

Pseudoautosomal Region 1 Length Polymorphism in the Human Population

P. Robinson, K. Devriendt, J. Vermeesch, 2014, PLoS genetics.

The 22q11 low copy repeats are characterized by unprecedented size and structural variability

T. Shaikh, P. Kwok, M. Xiao, 2018, bioRxiv.

Atypical chromosome 22q11.2 deletions are complex rearrangements and have different mechanistic origins.

B. Morrow, K. Devriendt, J. Vermeesch, 2019, Human molecular genetics.

Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2

E. Zackai, C. Marshall, D. Zheng, 2018, Human molecular genetics.

Variant discovery and breakpoint region prediction for studying the human 22q11.2 deletion using BAC clone and whole genome sequencing analysis.

D. Zheng, B. Morrow, J. Vermeesch, 2016, Human molecular genetics.

A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains

J. Vermeesch, A. Afenjar, M. Hestand, 2016, Human mutation.

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Alex V. Kotlar, Sunny X. Tang, E. Zackai, 2020, Molecular Psychiatry.

Conventional and Single-Molecule Targeted Sequencing Method for Specific Variant Detection in IKBKG while Bypassing the IKBKGP1 Pseudogene.

J. Vermeesch, M. Hestand, W. Meert, 2017, The Journal of molecular diagnostics : JMD.

Fetal fraction evaluation in non-invasive prenatal screening (NIPS)

M. Hestand, E. Sistermans, M. Weiss, 2018, European Journal of Human Genetics.

Structure and variation of three canine genes involved in serotonin binding and transport: the serotonin receptor 1A gene (htr1A), serotonin receptor 2A gene (htr2A), and serotonin transporter gene (slc6A4).

B. V. van Oost, M. Hestand, P. Leegwater, 2005, The Journal of heredity.

Polymerase specific error rates and profiles identified by single molecule sequencing.

J. Vermeesch, M. Hestand, J. Van Houdt, 2016, Mutation research.

Tissue Restricted Splice Junctions Originate Not Only from Tissue-Specific Gene Loci, but Gene Loci with a Broad Pattern of Expression

S. J. Coleman, Jinze Liu, Z. Zeng, 2015, PloS one.

Analysis of Unannotated Equine Transcripts Identified by mRNA Sequencing

S. J. Coleman, Jinze Liu, Z. Zeng, 2013, PloS one.

The Versatility of SMRT Sequencing

A. Ameur, M. Hestand, 2019, Genes.

Canine COL4A3 and COL4A4: Sequencing, mapping and genomic organization

B. V. van Oost, M. Hestand, L. Millon, 2005, DNA sequence : the journal of DNA sequencing and mapping.

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

E. Zackai, J. Vermeesch, B. Emanuel, 2019, Genetics in Medicine.

Annotation of the Protein Coding Regions of the Equine Genome

S. J. Coleman, T. Kalbfleisch, Jinze Liu, 2015, PloS one.

Tissue-specific transcript annotation and expression profiling with complementary next-generation sequencing technologies

Thomas Werner, Matthias Scherf, Matthias Harbers, 2010, Nucleic acids research.

Correction: Analysis of Unannotated Equine Transcripts Identified by mRNA Sequencing

S. J. Coleman, Jinze Liu, Z. Zeng, 2013, PLoS ONE.

Clinical characteristics of patients with low functional IL-6 production upon TLR/IL-1R stimulation.

J. Vermeesch, M. Hestand, W. Meert, 2017, The Journal of allergy and clinical immunology.

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

Ian T. Fiddes, Brendan L. O’Connell, B. Walenz, 2018, Communications Biology.

EquCab3, an Updated Reference Genome for the Domestic Horse

Ian T. Fiddes, Brendan L. O’Connell, B. Walenz, 2018 .

Comparison of the Equine Reference Sequence with Its Sanger Source Data and New Illumina Reads

S. J. Coleman, T. Kalbfleisch, Z. Zeng, 2015, PloS one.

Experimental Design and Quality Control of Next-Generation Sequencing Experiments

Judith M. Boer, Peter A. C. 't Hoen, Johan T. den Dunnen, 2012 .

CORE_TF: a user-friendly interface to identify evolutionary conserved transcription factor binding sites in sets of co-regulated genes

Peter A. C. 't Hoen, Johan T. den Dunnen, Gert-Jan B. van Ommen, 2008, BMC Bioinformatics.