List of works - Anne De Paepe

A detailed inventory of DNA copy number alterations in four commonly used Hodgkin's lymphoma cell lines

scientific article (publication date: July 2007)

A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review

scientific article published on 5 April 2017

A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement

scientific article

Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model

scientific article

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

scientific article

Antitumor activity of the selective MDM2 antagonist nutlin-3 against chemoresistant neuroblastoma with wild-type p53.

scientific article

Application of laser capture microdissection in genetic analysis of neuroblastoma and neuroblastoma precursor cells

scientific article

ArrayCGH-based classification of neuroblastoma into genomic subgroups

scientific article published on December 2007

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

scientific article

Attitudes of European Geneticists Regarding Expanded Carrier Screening

scientific article published on 19 November 2016

Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues

scientific article published on 29 July 2015

BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment

scientific article

Balance, gait, falls, and fear of falling in women with the hypermobility type of Ehlers-Danlos syndrome

scientific article published on October 2011

Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders

scientific article

Bleeding in the heritable connective tissue disorders: mechanisms, diagnosis and treatment

scientific article published on 09 July 2009

CADM1 is a strong neuroblastoma candidate gene that maps within a 3.72 Mb critical region of loss on 11q23

scientific article

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome

scientific article

Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis

scientific article

Chromosome 3p microsatellite allelotyping in neuroblastoma: a report on the technical hurdles

scientific article

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

scientific article published on October 2010

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

scientific article published on 28 October 2015

Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes

scientific article published on 27 April 2011

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

scientific article published on 7 April 2010

Combined karyotyping, CGH and M-FISH analysis allows detailed characterization of unidentified chromosomal rearrangements in Merkel cell carcinoma

scientific article

Combined subtractive cDNA cloning and array CGH: an efficient approach for identification of overexpressed genes in DNA amplicons

scientific article

Complex splicing pattern generates great diversity in human NF1 transcripts

scientific article

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

scientific article

Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene

scientific article published on September 2014

Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature ⬇️

scientific article published on October 30, 2003

Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder

scientific article

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

scientific article published on 30 September 2013

Dickkopf-3 is regulated by the MYCN-induced miR-17-92 cluster in neuroblastoma

scientific journal article

Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.

scientific article published on July 2003

Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening

scientific article

Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome

scientific article

EVI1 overexpression in t(3;17) positive myeloid malignancies results from juxtaposition of EVI1 to the MSI2 locus at 17q22.

scientific article

EVI1-mediated down regulation of MIR449A is essential for the survival of EVI1 positive leukaemic cells

scientific article published on 14 May 2011

Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial.

scientific article

Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum

scientific article

Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients

scientific article published on 3 October 2013

Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family

scientific article

Ehlers-Danlos syndromes and Marfan syndrome

scientific article

Expressed repeat elements improve RT-qPCR normalization across a wide range of zebrafish gene expression studies

scientific article

Expression analyses identify MLL as a prominent target of 11q23 amplification and support an etiologic role for MLL gain of function in myeloid malignancies

scientific article published on 28 August 2003

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

scientific article

FOXL2 mutations and genomic rearrangements in BPES.

scientific article published on February 2009

Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa

scientific article

Functional analysis of the p53 pathway in neuroblastoma cells using the small-molecule MDM2 antagonist nutlin-3.

scientific article published on April 2011

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients

scientific article

Gene-expression profiling reveals distinct expression patterns for Classic versus Variant Merkel cell phenotypes and new classifier genes to distinguish Merkel cell from small-cell lung carcinoma

scientific article published on April 2004

Genes in Thoracic Aortic Aneurysms and Dissections - Do they Matter?: Translation and Integration of Research and Modern Genetic Techniques into Daily Clinical Practice

scientific article

Genes in thoracic aortic aneurysms/dissections - do they matter?

scientific article published on January 2013

Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia

scientific journal article

Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis

scientific article

Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden

scientific article published on 30 July 2009

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

scientific article published on 21 May 2013

Hereditary connective tissue diseases in young adult stroke: a comprehensive synthesis

scientific article published on 20 January 2011

High resolution tiling-path BAC array deletion mapping suggests commonly involved 3p21-p22 tumor suppressor genes in neuroblastoma and more frequent tumors

scientific article published on February 2007

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

scientific article (publication date: September 2002)

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips

scientific article

Human fetal neuroblast and neuroblastoma transcriptome analysis confirms neuroblast origin and highlights neuroblastoma candidate genes

scientific article published in January 2006

Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin

scientific article

Identification of two critically deleted regions within chromosome segment 7q35-q36 in EVI1 deregulated myeloid leukemia cell lines

scientific article

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

scientific article

Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among Flemish physiotherapists

scientific article published on March 2015

Localization of the 17q breakpoint of a constitutional 1;17 translocation in a patient with neuroblastoma within a 25-kb segment located between the ACCN1 and TLK2 genes and near the distal breakpoints of two microdeletions in neurofibromatosis type

scientific article

Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome

scientific article published on 19 August 2016

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

scientific article

Marfan Syndrome and Related Heritable Thoracic Aortic Aneurysms and Dissections

scientific article published on 25 August 2015

Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome

scientific article

Meta-analysis of neuroblastomas reveals a skewed ALK mutation spectrum in tumors with MYCN amplification

scientific article published on 18 August 2010

Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter

scientific article

Molecular genetics in classic Ehlers-Danlos syndrome

scientific article

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

scientific article

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

scientific article

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

scientific article published on 29 December 2016

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

scientific article

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

scientific article

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

scientific article

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

scientific article

No evidence for involvement of SDHD in neuroblastoma pathogenesis

scientific article

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.

scientific article published on 19 September 2011

Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene

scientific article

Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon

scientific article published on 04 September 2013

PAX5/IGH rearrangement is a recurrent finding in a subset of aggressive B-NHL with complex chromosomal rearrangements

scientific article

Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 gene

scientific article

Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum

scientific article published on 29 April 2014

Pharmacologic activation of wild-type p53 by nutlin therapy in childhood cancer

scientific article

Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists' views

scientific article

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity

scientific article

RNA pre-amplification enables large-scale RT-qPCR gene-expression studies on limiting sample amounts

scientific article

RTPrimerDB: the real-time PCR primer and probe database

scientific article published on January 2003

RTPrimerDB: the real-time PCR primer and probe database, major update 2006.

scientific article

Small-molecule MDM2 antagonists as a new therapy concept for neuroblastoma

scientific article published on October 2006

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

scientific article published on 24 February 2010

The 2017 international classification of the Ehlers-Danlos syndromes

scientific article published on March 2017

The Ehlers-Danlos syndrome

scientific article published on January 2014

The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP)

scientific article published on September 1, 2011

The microRNA body map: dissecting microRNA function through integrative genomics

scientific article published on 10 August 2011

The von Hippel-Lindau tumor suppressor gene expression level has prognostic value in neuroblastoma

scientific article

Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood

scientific article

Translocation-excision-deletion-amplification mechanism leading to nonsyntenic coamplification of MYC and ATBF1.

scientific article published on February 2006

Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure

scientific article

Unequivocal delineation of clinicogenetic subgroups and development of a new model for improved outcome prediction in neuroblastoma

scientific article

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

scientific article

Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum ⬇️

scientific article published on June 1, 2011

Zebrafish models for ectopic mineralization disorders: practical issues from morpholino design to post-injection observations

scientific article published on 8 May 2013

arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays

scientific article

methBLAST and methPrimerDB: web-tools for PCR based methylation analysis

scientific article published on 9 November 2006

List of works by Anne De Paepe

A detailed inventory of DNA copy number alterations in four commonly used Hodgkin's lymphoma cell lines

A novel case of autosomal dominant cutis laxa in a consanguineous family: report and literature review

A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement

Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

Antitumor activity of the selective MDM2 antagonist nutlin-3 against chemoresistant neuroblastoma with wild-type p53.

Application of laser capture microdissection in genetic analysis of neuroblastoma and neuroblastoma precursor cells

ArrayCGH-based classification of neuroblastoma into genomic subgroups

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

Attitudes of European Geneticists Regarding Expanded Carrier Screening

Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues

BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment

Balance, gait, falls, and fear of falling in women with the hypermobility type of Ehlers-Danlos syndrome

Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders

Bleeding in the heritable connective tissue disorders: mechanisms, diagnosis and treatment

CADM1 is a strong neuroblastoma candidate gene that maps within a 3.72 Mb critical region of loss on 11q23

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome

Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis

Chromosome 3p microsatellite allelotyping in neuroblastoma: a report on the technical hurdles

Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type

Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches

Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes

Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]

Combined karyotyping, CGH and M-FISH analysis allows detailed characterization of unidentified chromosomal rearrangements in Merkel cell carcinoma

Combined subtractive cDNA cloning and array CGH: an efficient approach for identification of overexpressed genes in DNA amplicons

Complex splicing pattern generates great diversity in human NF1 transcripts

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene

Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature ⬇️

Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

Dickkopf-3 is regulated by the MYCN-induced miR-17-92 cluster in neuroblastoma

Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.

Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening

Dysautonomia and its underlying mechanisms in the hypermobility type of Ehlers-Danlos syndrome

EVI1 overexpression in t(3;17) positive myeloid malignancies results from juxtaposition of EVI1 to the MSI2 locus at 17q22.

EVI1-mediated down regulation of MIR449A is essential for the survival of EVI1 positive leukaemic cells

Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial.

Efficiency of exome sequencing for the molecular diagnosis of pseudoxanthoma elasticum

Ehlers-Danlos Syndrome Type VIII: A Rare Cause of Leg Ulcers in Young Patients

Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family

Ehlers-Danlos syndromes and Marfan syndrome

Expressed repeat elements improve RT-qPCR normalization across a wide range of zebrafish gene expression studies

Expression analyses identify MLL as a prominent target of 11q23 amplification and support an etiologic role for MLL gain of function in myeloid malignancies

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation

FOXL2 mutations and genomic rearrangements in BPES.

Fibulin-5 mutations: mechanisms of impaired elastic fiber formation in recessive cutis laxa

Functional analysis of the p53 pathway in neuroblastoma cells using the small-molecule MDM2 antagonist nutlin-3.

Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients

Gene-expression profiling reveals distinct expression patterns for Classic versus Variant Merkel cell phenotypes and new classifier genes to distinguish Merkel cell from small-cell lung carcinoma

Genes in Thoracic Aortic Aneurysms and Dissections - Do they Matter?: Translation and Integration of Research and Modern Genetic Techniques into Daily Clinical Practice

Genes in thoracic aortic aneurysms/dissections - do they matter?

Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia

Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis

Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

Hereditary connective tissue diseases in young adult stroke: a comprehensive synthesis

High resolution tiling-path BAC array deletion mapping suggests commonly involved 3p21-p22 tumor suppressor genes in neuroblastoma and more frequent tumors

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips

Human fetal neuroblast and neuroblastoma transcriptome analysis confirms neuroblast origin and highlights neuroblastoma candidate genes

Human fibroblasts with mutations in COL5A1 and COL3A1 genes do not organize collagens and fibronectin in the extracellular matrix, down-regulate alpha2beta1 integrin, and recruit alphavbeta3 Instead of alpha5beta1 integrin

Identification of two critically deleted regions within chromosome segment 7q35-q36 in EVI1 deregulated myeloid leukemia cell lines

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

Knowledge, assessment, and management of adults with joint hypermobility syndrome/Ehlers-Danlos syndrome hypermobility type among Flemish physiotherapists

Localization of the 17q breakpoint of a constitutional 1;17 translocation in a patient with neuroblastoma within a 25-kb segment located between the ACCN1 and TLK2 genes and near the distal breakpoints of two microdeletions in neurofibromatosis type

Loss of Type I Collagen Telopeptide Lysyl Hydroxylation Causes Musculoskeletal Abnormalities in a Zebrafish Model of Bruck Syndrome

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Marfan Syndrome and Related Heritable Thoracic Aortic Aneurysms and Dissections

Medication, surgery, and physiotherapy among patients with the hypermobility type of Ehlers-Danlos syndrome

Meta-analysis of neuroblastomas reveals a skewed ALK mutation spectrum in tumors with MYCN amplification

Molecular docking simulations provide insights in the substrate binding sites and possible substrates of the ABCC6 transporter

Molecular genetics in classic Ehlers-Danlos syndrome

Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin