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Lista de obras de Joris R Vermeesch

"Opitz C syndrome and pseudohypoaldosteronism" is caused by a chromosome 4q deletion

scientific article published on 01 June 2009

22q11.2 Low Copy Repeats Expanded in the Human Lineage

artículo científico publicado en 2021

22q11.2 deletion syndrome

artículo científico publicado en 2015

25 Mb deletion of 13q13.3-->q21.31 in a patient without retinoblastoma

artículo científico publicado en 2005

2q31.1 microdeletion syndrome: redefining the associated clinical phenotype

scientific article published on 10 November 2010

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 ⬇️

artículo científico publicado el 27 de mayo de 2011

A 4-Mb BAC/PAC contig and complete genomic structure of the GPC5/GPC6 gene cluster on chromosome 13q32

artículo científico publicado en 2001

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

artículo científico publicado en 2016

A benchmark of structural variation detection by long reads through a realistic simulated model

artículo científico publicado en 2021

A catalog of hemizygous variation in 127 22q11 deletion patients

artículo científico publicado en 2016

A complex submicroscopic chromosomal imbalance in 19p13.11 with one microduplication and two microtriplications

artículo científico publicado en 2008

A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo

artículo científico publicado en 2018

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

artículo científico publicado en 2013

A dysmorphic boy with 4qter deletion and 4q32.3-34.3 duplication: clinical, cytogenetic, and molecular findings

artículo científico publicado en 2004

A male with two idic(Y)(q12) chromosomes: a distinct phenotype resembling the XXXY/XXXXY syndrome

artículo científico publicado en 2005

A microdeletion proximal of the critical deletion region is associated with mild Wolf-Hirschhorn syndrome

artículo científico publicado en 2012

A microduplication ofCBP in a patient with mental retardation and a congenital heart defect

A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay

artículo científico publicado en 2008

A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.

artículo científico publicado en 2012

A physical map of the region spanning the chromosome 12 translocation breakpoint in a mesothelioma with a t(X;12)(q22;p13) ⬇️

artículo científico publicado el 1 de enero de 1995

A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC)

artículo científico publicado en 2021

A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factors.

artículo científico publicado en 2013

A small supernumerary marker chromosome present in a Turner syndrome patient not derived from X- or Y-chromosome: a case report

artículo científico publicado en 2009

A speculative outlook on embryonic aneuploidy: can molecular pathways be involved?

artículo científico publicado en 2018

A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

artículo científico publicado en 2009

Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies

artículo científico publicado en 2016

Accurate determination of copy number variations (CNVs): application to the alpha- and beta-defensin CNVs

artículo científico publicado en 2009

An 11q11-q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses

artículo científico publicado en 2007

An experimental loop design for the detection of constitutional chromosomal aberrations by array CGH.

artículo científico publicado en 2009

An incidental finding of maternal multiple myeloma by non invasive prenatal testing.

artículo científico publicado en 2017

Aneuploidy and copy number variation in early human development

artículo científico

Annotate-it: a Swiss-knife approach to annotation, analysis and interpretation of single nucleotide variation in human disease

artículo científico publicado en 2012

Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome

artículo científico publicado en 2009

Anterior cervical hypertrichosis and mental retardation

artículo científico publicado en 2006

Array CGH analysis in primary gastrointestinal stromal tumors: Cytogenetic profile correlates with anatomic site and tumor aggressiveness, irrespective of mutational status

artículo científico publicado en 2007

Array comparative genomic hybridization and computational genome annotation in constitutional cytogenetics: suggesting candidate genes for novel submicroscopic chromosomal imbalance syndromes

artículo científico publicado en 2007

Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects.

artículo científico publicado en 2010

Array technology in prenatal diagnosis.

scientific article published on 05 January 2011

Array-based approaches in prenatal diagnosis

artículo científico publicado en 2012

Assignment of the human glypican gene (GPC1) to 2q35-q37 by fluorescence in situ hybridization

artículo científico publicado en 1995

Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16

artículo científico publicado en 2008

BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome

artículo científico publicado en 2011

Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos

artículo científico publicado en 2011

Breast Cancer Detection and Treatment Monitoring Using a Noninvasive Prenatal Testing Platform: Utility in Pregnant and Nonpregnant Populations

artículo científico publicado en 2020

Bronchiectasis and immune deficiency in an adult patient with deletion 2q37 due to an unbalanced translocation t(2;10).

artículo científico publicado en 2009

Case Report Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech ⬇️

artículo científico publicado el 21 de septiembre de 2011

Characterization of glypican-5 and chromosomal localization of human GPC5, a new member of the glypican gene family

artículo científico publicado en 1997

Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome

artículo científico publicado en 2012

Choriocarcinoma in Situ in a Partial Hydatidiform Mole A: Case Report

scientific article published on 01 August 2016

Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate.

artículo científico publicado en 2015

Chromosome Instability Is Common in Human Cleavage-Stage Embryos

Chromosome healing of constitutional chromosome deletions studied by microdissection ⬇️

artículo científico publicado el 1 de enero de 1998

Chromosome instability is common in human cleavage-stage embryos

artículo científico publicado en 2009

Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability

artículo científico publicado en 2014

Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

artículo científico publicado en 2019

Complete sex reversal in a WAGR syndrome patient

artículo científico publicado en 2007

Complex MCA/MR syndrome associated with interstitial deletion of the long arm of chromosome 6, del(6)(q25.1-->q27)

scientific article published on 01 July 2003

Concurrent whole-genome haplotyping and copy-number profiling of single cells

artículo científico publicado en 2015

Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

artículo científico publicado en 2018

Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.

artículo científico publicado en 2012

Congenital nasal piriform aperture stenosis as a rare manifestation of monosomy 1p36

artículo científico publicado en 2010

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

artículo científico publicado en 2010

Conserved DNA sequences adjacent to chromosome fragmentation and telomere addition sites in Euplotes crassus.

artículo científico publicado en 1998

Copy Number Variation Analysis by Array Analysis of Single Cells Following Whole Genome Amplification

artículo científico publicado en 2015

Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor

artículo científico publicado en 2016

Creating basis for introducing non-invasive prenatal testing in the Estonian public health setting

scientific article published on 06 November 2019

Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH.

artículo científico publicado en 2008

Current Controversies in Prenatal Diagnosis 3: Gene editing should replace embryo selection following PGD

artículo científico publicado en 2019

Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy

article

Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology

scholarly article by Joyce C Harper et al published 1 November 2013 in European Journal of Human Genetics

Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation

scientific article published on 16 March 2020

Cytogenetic and morphological analysis of early products of conception following hystero-embryoscopy from couples with recurrent pregnancy loss

artículo científico publicado en 2012

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

artículo científico publicado en 2003

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis

artículo científico publicado en 2005

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

artículo científico publicado en 2018

Delineation of the critical deletion region for congenital heart defects, on chromosome 8p23.1.

artículo científico publicado en 1999

Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule Sequencing: A 1 Year Clinical Experience.

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Detecting mosaicism in trophectoderm biopsies.

artículo científico publicado en 2017

Detection of incipient tumours by screening of circulating plasma DNA: hype or hope?

scientific article published on 03 October 2019

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

artículo científico publicado en 2008

Diagnosis of miscarriages by molecular karyotyping: benefits and pitfalls

artículo científico publicado en 2009

Diagnostic implications of genetic copy number variation in epilepsy plus

artículo científico publicado en 2019

Differences in Copy Number Variation between Discordant Monozygotic Twins as a Model for Exploring Chromosomal Mosaicism in Congenital Heart Defects ⬇️

artículo científico publicado el 26 de enero de 2012

Direct fluorescent labelling of clones by DOP PCR

artículo científico publicado en 2008

Duplication of the TGFBR1 gene causes features of Loeys-Dietz syndrome

artículo científico publicado en 2010

Duplication of the Wolf-Hirschhorn syndrome critical region causes neurodevelopmental delay

artículo científico publicado en 2010

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

artículo científico publicado en 2009

Early detection of chromosome 9q22.32q31.1 microdeletion and the nevoid basal cell carcinoma syndrome

scientific article published on 21 February 2009

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

artículo científico publicado en 2008

Efficient CRISPR/Cas9-mediated editing of trinucleotide repeat expansion in myotonic dystrophy patient-derived iPS and myogenic cells

artículo científico publicado en 2018

Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes

artículo científico publicado en 2013

Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations

artículo científico publicado en 2014

Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.

artículo científico publicado en 2014

Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome

artículo científico publicado en 2005

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia

artículo científico publicado en 2014

FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish

artículo científico publicado en 2011

FISH identifies different types of duplications with 12q13-15 as the commonly involved segment in B-cell lymphoproliferative malignancies characterized by partial trisomy 12 ⬇️

artículo científico publicado el 1 de octubre de 1997

Fetal sex determination in twin pregnancies using non-invasive prenatal testing

scientific article published on 04 July 2019

Fetal surgery is a clinical reality

artículo científico publicado en 2009

Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome

artículo científico publicado en 2011

FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation

artículo científico publicado en 2011

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

artículo científico publicado en 2015

GPC4, the gene for human K-glypican, flanks GPC3 on xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome

artículo científico publicado en 1998

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

artículo científico publicado en 2020

Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next-generation sequencing

artículo científico publicado en 2018

Genome stability of bovine in vivo-conceived cleavage-stage embryos is higher compared to in vitro-produced embryos.

artículo científico publicado en 2017

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.

artículo científico publicado en 2017

Genome-Wide Copy Number Variation Scan Identifies Complement Component C4 as Novel Susceptibility Gene for Crohn's Disease

artículo científico publicado en 2015

Genome-wide arrays: quality criteria and platforms to be used in routine diagnostics

artículo científico publicado en 2012

Genome-wide copy number profiling of single cells in S-phase reveals DNA-replication domains

artículo científico publicado en 2013

Genome-wide haplotyping embryos developing from 0PN and 1PN zygotes increases transferrable embryos in PGT-M

scholarly article by Aspasia Destouni et al published 31 October 2018 in Human Reproduction

Genomic microarrays: a technology overview

artículo científico

Genomic organization and evolution of the NF1 microdeletion region.

artículo científico publicado en 2004

Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani--Lenz-like non-syndromic oligosyndactyly

artículo científico publicado en 2010

Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly

scientific article published on 03 August 2020

Glypican-6, a new member of the glypican family of cell surface heparan sulfate proteoglycans

scientific journal article

Guidelines for molecular karyotyping in constitutional genetic diagnosis

artículo científico publicado en 2007

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

artículo científico publicado en 2017

Haploinsufficiency of ANKRD11 causes mild cognitive impairment, short stature and minor dysmorphisms

artículo científico publicado en 2011

Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome

artículo científico publicado en 2010

Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.

artículo científico publicado en 2012

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

artículo científico publicado en 2012

High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations

artículo científico publicado en 2011

Holoprosencephaly and ZIC2 microdeletions: novel clinical and epidemiological specificities delineated ⬇️

artículo científico publicado el 23 de mayo de 2011

How can zygotes segregate entire parental genomes into distinct blastomeres? The zygote metaphase revisited

artículo científico publicado en 2017

Human sphingosine-1-phosphate lyase: cDNA cloning, functional expression studies and mapping to chromosome 10q22(1)

artículo científico publicado en 2000

Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism.

artículo científico publicado en 2007

Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

artículo científico publicado en 2016

Identity-by-state-based haplotyping expands the application of comprehensive preimplantation genetic testing

scientific article published on 01 March 2020

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

artículo científico

In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages

scientific article published on 04 November 2019

In vitro screening of embryos by whole-genome sequencing: now, in the future or never?

artículo científico publicado en 2014

International Society for Prenatal Diagnosis (ISPD) Position Statement: Cell free (cf)DNA screening for Down syndrome in multiple pregnancies

artículo científico publicado en 2020

Interstitial 6q deletion: clinical and array CGH characterisation of a new patient

artículo científico publicado en 2005

LEF1 haploinsufficiency causes ectodermal dysplasia

artículo científico publicado en 2020

LETM1 haploinsufficiency causes mitochondrial defects in cells from humans with Wolf-Hirschhorn syndrome: implications for dissecting the underlying pathomechanisms in this condition

artículo científico publicado en 2014

Lack of Evidence That Male Fetal Microchimerism is Present in Endometriosis

artículo científico publicado en 2015

Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study

artículo científico publicado en 2005

Large-scale analysis of tandem repeat variability in the human genome

artículo científico publicado en 2014

Left-ventricular non-compaction in a patient with monosomy 1p36

artículo científico publicado en 2007

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

artículo científico publicado en 2007

Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

artículo científico publicado en 2018

Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

scientific article published on 14 June 2019

Maternal liver transplant: Another cause of discordant fetal sex determination using cell-free DNA.

artículo científico publicado en 2017

Maternal vitamin B12 deficiency and abnormal cell-free DNA results in pregnancy

artículo científico publicado en 2016

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism

artículo científico publicado en 2012

Microarray analysis of copy number variation in single cells.

artículo científico publicado en 2012

Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity

scientific article published on 23 October 2019

Modulation of Aneuploidy in Leishmania donovani during Adaptation to Different In Vitro and In Vivo Environments and Its Impact on Gene Expression.

artículo científico publicado en 2017

Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing

artículo científico publicado en 2012

Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formation

artículo científico publicado en 2006

Molecular genetics of 22q11.2 deletion syndrome

article

Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis.

artículo científico publicado en 2005

Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients

artículo científico publicado en 2006

Mosaic copy number variation in human neurons

artículo científico publicado en 2013

Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event

artículo científico publicado en 2003

Multi-centre evaluation of a comprehensive preimplantation genetic test through haplotyping-by-sequencing

artículo científico publicado en 2019

Mutational Processes Shaping the Genome in Early Human Embryos

artículo científico publicado en 2017

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

artículo científico publicado en 2015

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

artículo científico publicado en 2015

NGS-Logistics: federated analysis of NGS sequence variants across multiple locations

artículo científico publicado en 2014

NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies

artículo científico publicado en 2018

Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders

artículo científico publicado en 2018

New array approaches to explore single cells genomes

artículo científico publicado en 2012

No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome

artículo científico publicado en 2003

Noise-robust assessment of SNP array based CNV calls through local noise estimation of log R ratios

artículo científico publicado en 2018

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

artículo científico publicado en 2015

Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations.

artículo científico publicado en 2012

Noninvasive Prenatal Testing and Detection of Occult Maternal Malignancies

artículo científico publicado en 2019

Noninvasive prenatal diagnosis by genome-wide haplotyping of cell-free plasma DNA

artículo científico publicado en 2020

Noninvasive prenatal testing detected acute myeloid leukemia in paucisymptomatic pregnant patient

artículo científico publicado en 2020

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

artículo científico publicado en 2015

Novel CASK mutations in cases with syndromic microcephaly

artículo científico publicado en 2018

Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening

artículo científico publicado en 2017

Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability.

artículo científico

O12: Text Mining for Constitutional Cytogenetics

Oculocerebral Hypopigmentation Syndrome Maps to Chromosome 3q27.1q29 ⬇️

artículo científico publicado el 1 de enero de 2011

Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC

article

PGD for a complex chromosomal rearrangement by array comparative genomic hybridization ⬇️

artículo científico publicado el 2 de febrero de 2011

PPP2R2C, a gene disrupted in autosomal dominant intellectual disability

artículo científico publicado en 2010

PREIMPLANTATION GENETIC TESTING: Single-cell technologies at the forefront of PGT and embryo research

scientific article published on 01 November 2020

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

artículo científico publicado en 2011

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders

artículo científico publicado en 2014

Partial duplications of the ATRX gene cause the ATR-X syndrome

artículo científico publicado en 2007

Pathogenesis of vestibular schwannoma in ring chromosome 22

artículo científico publicado en 2009

Pathogenic significance of deletions distal to the currently described Wolf-Hirschhorn syndrome critical regions on 4p16.3.

artículo científico publicado en 2008

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

artículo científico publicado en 2019

Piecing together the problems in diagnosing low-level chromosomal mosaicism

artículo científico publicado en 2010

Polymerase specific error rates and profiles identified by single molecule sequencing

artículo científico publicado en 2016

Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism

artículo científico publicado en 2008

Post-zygotic origin of isochromosome 12p

scientific article published on 01 December 2004

Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing.

artículo científico publicado en 2018

Pregnant women with confirmed neoplasms should not have noninvasive prenatal testing

artículo científico publicado en 2019

Preimplantation genetic diagnosis guided by single-cell genomics

scientific article published on 19 August 2013

Preimplantation genetic screening for aneuploidy of embryos after in vitro fertilization in women aged at least 35 years: a prospective randomized trial

artículo científico publicado en 2009

Prenatal and pre-implantation genetic diagnosis

artículo científico publicado en 2016

Prenatal management of the fetus with isolated congenital diaphragmatic hernia in the era of the TOTAL trial.

artículo científico publicado en 2014

Prenatally detected copy number variants in a national cohort: a postnatal follow-up study

artículo científico publicado en 2020

Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing

artículo científico publicado en 2015

Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos

artículo científico publicado en 2017

Pseudoautosomal region 1 length polymorphism in the human population

artículo científico publicado en 2014

Pulmonary transcriptome analysis in the surgically induced rabbit model of diaphragmatic hernia treated with fetal tracheal occlusion

artículo científico publicado en 2016

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

artículo científico publicado en 2017

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome

artículo científico publicado en 2017

Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

article

Recent developments in the genetic factors underlying congenital diaphragmatic hernia

artículo científico publicado en 2010

Reciprocal 22q11.2 Deletion and Duplication in Siblings with Karyotypically Normal Parents

artículo científico publicado en 2016

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

artículo científico publicado en 2008

Refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1.

artículo científico publicado en 2009

Reply to Hochstenbach et al. 'Molecular karyotyping'

scientific article published on 31 May 2006

Response to a comment on "Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing"

scientific article published on 19 July 2018

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

Ring chromosome 4 and Wolf–Hirschhorn syndrome (WHS) in a child with multiple anomalies

artículo científico publicado en 2006

SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles.

artículo científico publicado en 2010

Single cell segmental aneuploidy detection is compromised by S phase

artículo científico publicado en 2014

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

artículo científico publicado en 2018

Single-cell chromosomal imbalances detection by array CGH

scientific article published on 12 May 2006

Single-cell copy number variation detection.

artículo científico publicado en 2011

Single-cell paired-end genome sequencing reveals structural variation per cell cycle

artículo científico publicado en 2013

Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them

artículo científico publicado en 2008

Somatic genomic variations in early human prenatal development

artículo científico publicado en 2010

Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients

artículo científico publicado en 2006

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

artículo científico publicado en 2007

Submicroscopic distal deletion of the long arm of chromosome 13(13q34) with corpus callosum agenesis

scientific article published on 01 August 2009

Subtelomeric imbalances in phenotypically normal individuals

artículo científico publicado en 2007

Systematic evaluation of NIPT aneuploidy detection software tools with clinically validated NIPT samples

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Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)

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Telomere healing following DNA polymerase arrest-induced breakages is likely the main mechanism generating chromosome 4p terminal deletions

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Telomere processing in Euplotes

artículo científico publicado en 1993

Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.

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

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The BElgian PREnatal MicroArray (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations

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The C20orf133 gene is disrupted in a patient with Kabuki syndrome

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The C20orf133 gene is disrupted in a patient with Kabuki syndrome

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The Human Cleavage Stage Embryo Is a Cradle of Chromosomal Rearrangements ⬇️

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The IL-9 receptor gene (IL9R): genomic structure, chromosomal localization in the pseudoautosomal region of the long arm of the sex chromosomes, and identification of IL9R pseudogenes at 9qter, 10pter, 16pter, and 18pter

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The IL-9 receptor gene, located in the Xq/Yq pseudoautosomal region, has an autosomal origin, escapes X inactivation and is expressed from the Y

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The causality of de novo copy number variants is overestimated

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The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe

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The clinical relevance of intragenic NRXN1 deletions

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The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects

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The human peroxisomal multifunctional protein involved in bile acid synthesis: activity measurement, deficiency in Zellweger syndrome and chromosome mapping

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The introduction of arrays in prenatal diagnosis: a special challenge

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The smallest de novo deletion of 20q11.21-q11.23 in a girl with feeding problems, retinal dysplasia, and skeletal abnormalities

scientific article published on 23 January 2014

The sudden death of the combined first trimester aneuploidy screening, a single centre experience in Belgium

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The why, the how and the when of PGS 2.0: current practices and expert opinions of fertility specialists, molecular biologists, and embryologists

artículo científico publicado en 2016

Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGH

artículo científico publicado en 2011

Towards a European consensus for reporting incidental findings during clinical NGS testing

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Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome

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Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13.

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Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocation

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Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome

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Valproic acid confers functional pluripotency to human amniotic fluid stem cells in a transgene-free approach

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Variability in expression of a familial 2.79 Mb microdeletion in chromosome 14q22.1-22.2.

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Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

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

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What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate

scientific article published on 24 July 2009

What's new in karyotyping? The move towards array comparative genomic hybridisation (CGH).

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Why genomics shouldn't get too personal: in favor of filters: Re: invited comment by Holly K. Tabor et al. in American Journal of Medical Genetics Part A Volume 155

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Wolf-Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions

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Zygotes segregate entire parental genomes in distinct blastomere lineages causing cleavage-stage chimerism and mixoploidy

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arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays

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eXtasy: variant prioritization by genomic data fusion.

artículo científico publicado en 2013

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