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List of works by Bernard Thienpont

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

scientific article published in July 2005

2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy

scientific article

A Single-Cell Transcriptome Atlas of the Aging Drosophila Brain

article by Kristofer Davie et al published 9 August 2018 in Cell

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

scientific article published on 9 January 2008

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

A new protocol for single-cell RNA-seq reveals stochastic gene expression during lag phase in budding yeast

scientific article published on 18 May 2020

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

scientific article published on 9 April 2008

A pan-cancer blueprint of the heterogeneous tumor microenvironment revealed by single-cell profiling

scientific article published on 19 June 2020

A second patient with Tsukahara syndrome: Type A1 brachydactyly, short stature, hearing loss, microcephaly, mental retardation and ptosis

Age-related changes in DNA methylation affect renal histology and post-transplant fibrosis

scientific article published on 10 July 2019

An Integrated Gene Expression Landscape Profiling Approach to Identify Lung Tumor Endothelial Cell Heterogeneity and Angiogenic Candidates

scientific article published on 01 January 2020

Anterior cervical hypertrichosis and mental retardation

scientific article published in July 2006

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

scientific article published on 6 February 2010

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

scientific article published on 20 October 2011

Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects.

scientific article published on 13 September 2011

Collaboratively charting the gene-to-phenotype network of human congenital heart defects

scientific article (publication date: March 2010)

Comparative oncogenomics identifies tyrosine kinase FES as a tumor suppressor in melanoma

scientific article published on 2 May 2017

Congenital anterolateral bowing of the tibia with ipsilateral polydactyly of the great toe associated with cerebral cyst: a new entity?

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

scientific article published on 8 February 2012

DNA methylation profiling of non-small cell lung cancer reveals a COPD-driven immune-related signature

scientific article published on 08 September 2015

DNA methylation repels binding of hypoxia-inducible transcription factors to maintain tumor immunotolerance

scientific article published on 27 July 2020

DNA methylation-driven EMT is a common mechanism of resistance to various therapeutic agents in cancer

scientific article published on 14 February 2020

Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome

scientific article published on September 2009

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

scientific article published on January 26, 2012

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

scientific article published in August 2016

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

scientific article published on 14 October 2009

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

scientific article

Epigenetics in the heart: the role of histone modifications in cardiac remodelling

scientific article published on June 2013

Evaluation of efficacy and safety markers in a phase II study of metastatic colorectal cancer treated with aflibercept in the first-line setting

scientific article

Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

scientific article

Facial asymmetry, cardiovascular anomalies and adducted thumbs as unusual symptoms in Dubowitz syndrome: a microdeletion/duplication in 13q.

scientific article published in January 2006

Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

scientific article

Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk

scientific article

Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.

scientific article

Gene correlation network analysis to identify regulatory factors in idiopathic pulmonary fibrosis

article

Genetic biomarkers in the VEGF pathway predicting response to anti-VEGF therapy in age-related macular degeneration

scientific article published on 17 December 2019

Genomic Mismatch at LIMS1 Locus and Kidney Allograft Rejection

scientific article published in August 2019

Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH).

scientific article published on 14 September 2007

HIF-1α Promotes Glutamine-Mediated Redox Homeostasis and Glycogen-Dependent Bioenergetics to Support Postimplantation Bone Cell Survival

scientific article published in February 2016

Haploinsufficiency of TAB2 causes congenital heart defects in humans

scientific article

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

scientific article

IGF1R is an entry receptor for respiratory syncytial virus

scientific article published on 03 June 2020

Inhibition of the Glycolytic Activator PFKFB3 in Endothelium Induces Tumor Vessel Normalization, Impairs Metastasis, and Improves Chemotherapy.

scientific article published on 8 November 2016

Ischemia-Induced DNA Hypermethylation during Kidney Transplant Predicts Chronic Allograft Injury

It's T Time for Normal Blood Vessels

scientific article published in April 2017

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

scientific article published on 27 January 2007

Lineage-specific functions of TET1 in the postimplantation mouse embryo.

scientific article

Lipid availability determines fate of skeletal progenitor cells via SOX9

scientific article published on 26 February 2020

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

scientific article published in April 2007

Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks

scientific article

ModuleMiner - improved computational detection of cis-regulatory modules: are there different modes of gene regulation in embryonic development and adult tissues?

scientific article published on 07 April 2008

Molecular cytogenetic characterization of a constitutional complex intrachromosomal 4q rearrangement in a patient with multiple congenital anomalies

scientific article published in January 2006

Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation.

scientific article published on January 2006

Network analysis of differential expression for the identification of disease-causing genes

scientific article

Neurogenic Radial Glia-like Cells in Meninges Migrate and Differentiate into Functionally Integrated Neurons in the Neonatal Cortex

scientific article published on 17 November 2016

Osteocytic oxygen sensing controls bone mass through epigenetic regulation of sclerostin.

scientific article published on 2 July 2018

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

scientific article published on 20 June 2007

Phenotype molding of stromal cells in the lung tumor microenvironment

scientific article published on 09 July 2018

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

scientific article published on 16 April 2008

Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.

scientific article published on 10 April 2018

Publisher Correction: IGF1R is an entry receptor for respiratory syncytial virus

scientific article published on 19 June 2020

Quiescent Endothelial Cells Upregulate Fatty Acid β-Oxidation for Vasculoprotection via Redox Homeostasis ⬇️

scientific article published on 23 August 2018

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

scientific article published in July 2014

Rare variants in NR2F2 cause congenital heart defects in humans

scientific article published on April 2014

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

scientific article published on 17 September 2009

Regulatory Dynamics of Tet1 and Oct4 Resolve Stages of Global DNA Demethylation and Transcriptomic Changes in Reprogramming

scientific article published on 01 February 2020

Sesn1 is a novel gene for left-right asymmetry and mediating nodal signaling

scientific article published on 12 October 2006

Single-Cell Transcriptome Atlas of Murine Endothelial Cells

scientific article published on 13 February 2020

Single-cell chromosomal imbalances detection by array CGH

scientific article published on 12 May 2006

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

scientific article

Subtelomeric imbalances in phenotypically normal individuals

scientific article published in October 2007

TET enzymes as oxygen-dependent tumor suppressors: exciting new avenues for cancer management

scientific article

The Cancer Cell Oxygen Sensor PHD2 Promotes Metastasis via Activation of Cancer-Associated Fibroblasts

scientific article published on 28 July 2015

The Emerging Role of DNA Methylation in Kidney Transplantation: A Perspective

scientific article

The H3K9 dimethyltransferases EHMT1/2 protect against pathological cardiac hypertrophy

scientific article

The dynamics of genome-wide DNA methylation reprogramming in mouse primordial germ cells

scientific article

The role of fatty acid β-oxidation in lymphangiogenesis

scientific article published on 26 December 2016

Tumors smother their epigenome

scientific article published on 30 September 2016

Tumour hypoxia causes DNA hypermethylation by reducing TET activity

scientific article published on 17 August 2016

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