A. De Paepe

Ronald Y. Kwon, D. Eyre, A. De Paepe, 2016, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene

G. Mortier, A. De Paepe, L. Nuytinck, 2000, Journal of medical genetics.

Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene

G. Mortier, T. Callens, A. De Paepe, 1997, Human Genetics.

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

A. De Paepe, S. Janssens, P. Borry, 2017, BMC Medical Ethics.

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis

G. Mortier, J. Hellemans, A. De Paepe, 2006, Human mutation.

Association of multiple intracranial aneurysms and collagen type III deficiency.

A. De Paepe, J. De Reuck, F. de Keyser, 1988, Clinical neurology and neurosurgery.

Molecular Docking Simulations Provide Insights in the Substrate Binding Sites and Possible Substrates of the ABCC6 Transporter

A. De Paepe, Bijendra Khadka, M. J. Hosen, 2014, PloS one.

Familial idiopathic dilated cardiomyopathy (IDC).

A. De Paepe, R. Claeys, K. Naudts, 1991, Acta cardiologica.

Classification of pseudoxanthoma elasticum: report of a consensus conference.

M. Lebwohl, V. McKusick, J. Uitto, 1994, Journal of the American Academy of Dermatology.

Molecular nosology of heritable disorders of connective tissue.

P. Beighton, R. Pyeritz, A. De Paepe, 1992, American journal of medical genetics.

Zebrafish Models for Ectopic Mineralization Disorders: Practical Issues from Morpholino Design to Post-Injection Observations

A. De Paepe, M. J. Hosen, P. Coucke, 2013, Front. Genet..

The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene

G. Mortier, D. Rimoin, A. Zankl, 2005, Journal of Medical Genetics.

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

A. De Paepe, B. Loeys, P. Coucke, 2009, Human mutation.

Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations.

L. Ala‐Kokko, A. De Paepe, D. Prockop, 1998, American journal of human genetics.

Genetics of the Ehlers–Danlos syndrome: more than collagen disorders

A. De Paepe, P. Coucke, F. Malfait, 2015 .

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

A. De Paepe, N. Sakalihasan, P. Coucke, 2007, Human mutation.

Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy.

W. van Biesen, R. Vanholder, A. De Paepe, 2013, International journal of cardiology.

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

R. Mecham, A. De Paepe, B. Loeys, 2006, Human molecular genetics.

The 2017 international classification of the Ehlers–Danlos syndromes

J. Belmont, P. Byers, R. Grahame, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

No evidence for correlation of DDX1 gene amplification with improved survival probability in patients with MYCN-amplified neuroblastomas.

F. Speleman, J. Vandesompele, J. Lunec, 2005, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

A. Hoischen, T. Meitinger, T. Strom, 2017, American journal of human genetics.

COL3A1 mutation leading to acrogeria (Gottron type)

G. Plewig, A. De Paepe, L. Nuytinck, 2000, The British journal of dermatology.

Genetic Counselling and Testing for Hereditary Breast and Ovarian Cancer: The Gent(le) Approach

G. Mortier, K. Claes, A. De Paepe, 2002, Disease markers.

Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies.

F. Speleman, A. De Paepe, N. Van Roy, 2001, Cancer genetics and cytogenetics.

A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient.

M. Yamauchi, R. Bank, A. De Paepe, 2005, The Journal of investigative dermatology.

Missense Mutations in LRP5 Are Not a Common Cause of Idiopathic Osteoporosis in Adult Men

J. Kaufman, Minrong Ai, A. De Paepe, 2005, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Association between Cys282Tyr missense mutation and haptoglobin phenotype polymorphism in patients with chronic hepatitis C

H. Van Vlierberghe, A. De Paepe, L. Messiaen, 2001, European journal of gastroenterology & hepatology.

Does monosymptomatic enuresis exist? A molecular genetic exploration of 32 families with enuresis/incontinence

A. De Paepe, L. Messiaen, B. Loeys, 2002, BJU international.

Marfan Syndrome and Related Heritable Thoracic Aortic Aneurysms and Dissections.

A. De Paepe, B. Callewaert, P. Coucke, 2015, Current pharmaceutical design.

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene.

P. Robinson, A. Verloes, U. Kornak, 2014, European journal of medical genetics.

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

A. De Paepe, B. Callewaert, P. Coucke, 2012, Human mutation.

Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population.

R. Vanholder, K. Claes, B. Maes, 2007, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Genetic linkage between the collagen type VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features.

J. Naeyaert, A. De Paepe, L. Nuytinck, 1995, The Journal of investigative dermatology.

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta.

H. Kayserili, A. De Paepe, P. Coucke, 2019, Human molecular genetics.

Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.

R. Veitia, A. De Paepe, D. Beysen, 2008, Human molecular genetics.

Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients.

R. Vanholder, K. Claes, B. Maes, 2008, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Identification of Two Critically Deleted Regions within Chromosome Segment 7q35-q36 in EVI1 Deregulated Myeloid Leukemia Cell Lines

F. Speleman, B. Menten, A. De Paepe, 2010, PloS one.

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

S. Terry, H. Göring, A. De Paepe, 2001, American journal of human genetics.

Substitution of valine for glycine 793 in type III procollagen in Ehlers‐Danlos syndrome type IV

H. Kuivaniemi, G. Tromp, A. De Paepe, 1995, Human mutation.

The osteoporosis pseudoglioma syndrome.

A. De Paepe, J. Capoen, H. Lauwers, 1993, Journal belge de radiologie.

Osteoporosis-pseudoglioma syndrome.

A. De Paepe, L. Nuytinck, F. Meire, 1993, American journal of medical genetics.

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

Ronald Y. Kwon, S. Fisher, D. Eyre, 2018, Proceedings of the National Academy of Sciences.

Zebrafish Collagen Type I: Molecular and Biochemical Characterization of the Major Structural Protein in Bone and Skin

B. Menten, K. Gevaert, A. De Paepe, 2016, Scientific Reports.

Atypical presentation of pseudoxanthoma elasticum with abdominal cutis laxa: Evidence for a spectrum of ectopic calcification disorders?

L. Schurgers, A. De Paepe, P. Coucke, 2011, American journal of medical genetics. Part A.

Mutations in FKBP10 Cause Recessive Osteogenesis Imperfecta and Bruck Syndrome

P. Beighton, Y. Gillerot, N. Elçioglu, 2010, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failure.

R. Vanholder, A. De Paepe, L. Messiaen, 1996, American journal of nephrology.

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

F. Westermann, F. Speleman, J. Vandesompele, 2012, International journal of cancer.

New insights in the pathogenesis of aortic aneurysms.

A. De Paepe, B. Loeys, 2008, Verhandelingen - Koninklijke Academie voor Geneeskunde van Belgie.

Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV.

A. De Paepe, L. Nuytinck, J. Renard, 1992, Journal of medical genetics.

Human Fibroblasts with Mutations in COL5A1 and COL3A1 Genes Do Not Organize Collagens and Fibronectin in the Extracellular Matrix, Down-regulate α2β1 Integrin, and Recruit αvβ3 Instead of α5β1 Integrin*

A. De Paepe, N. Zoppi, M. Colombi, 2004, Journal of Biological Chemistry.

Homozygosity mapping of a gene for arterial tortuosity syndrome to chromosome 20q13

A. De Paepe, P. Van Acker, P. Willems, 2003, Journal of medical genetics.

DUP25 remains unconfirmed

F. Speleman, B. Menten, A. De Paepe, 2004, American journal of medical genetics. Part A.

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

A. Dupuy, A. De Paepe, G. Piérard, 2013, Case Reports in Dermatological Medicine.

Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome

A. De Paepe, B. Loeys, B. Callewaert, 2010, Clinical dysmorphology.

Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers–Danlos syndrome

A. De Paepe, L. Nuytinck, R. Pallotta, 2004, American journal of medical genetics. Part A.

HERITABLE COLLAGEN DISORDERS: FROM GENOTYPE TO PHENOTYPE1

A. De Paepe, L. Nuytinck, 2001, Acta clinica Belgica.

Obstetrical problems in patients with Ehlers-Danlos syndrome type IV; a case report.

A. De Paepe, M. Matton, B. Thaler, 1989, European journal of obstetrics, gynecology, and reproductive biology.

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

D. Franchimont, E. Van Cutsem, K. Dahan, 2011, Acta gastro-enterologica Belgica.

Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type

K. Devriendt, M. Thiry, A. De Paepe, 2016, Genetics in Medicine.

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

A. De Paepe, W. Steyaert, P. Coucke, 2015, Disease markers.

Ehlers–Danlos arthrochalasia type (VIIA–B) – expanding the phenotype: from prenatal life through adulthood

G. Pals, A. De Paepe, D. Krakow, 2012, Clinical genetics.

Cytogenetic and array‐CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers–Danlos syndrome

A. De Paepe, L. Faivre, C. Thauvin-Robinet, 2010, American journal of medical genetics. Part A.

Abnormal dentin structure in two novel gene mutations [COL1A1, Arg134Cys] and [ADAMTS2, Trp795-to-ter] causing rare type I collagen disorders.

A. Vral, A. De Paepe, M. Cornelissen, 2007, Archives of oral biology.

Molecular genetics in classic Ehlers–Danlos syndrome

A. De Paepe, F. Malfait, 2005, American journal of medical genetics. Part C, Seminars in medical genetics.

Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene.

M. Yamauchi, A. De Paepe, A. Teebi, 2004, Molecular genetics and metabolism.

Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.

L. Lagae, A. De Paepe, L. Nuytinck, 2000, American journal of human genetics.

Pseudoxanthoma elasticum: similar autosomal recessive subtype in Belgian and Afrikaner families.

P. Beighton, K. Vossaert, A. De Paepe, 1991, American journal of medical genetics.

Novel cryptic chromosomal rearrangements in childhood acute lymphoblastic leukemia detected by multiple color fluorescent in situ hybridization.

F. Speleman, J. Philippé, A. De Paepe, 2005, Haematologica.

Acrogeric phenotype in Ehlers–Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene

P. Altmeyer, A. De Paepe, L. Nuytinck, 2001, The British journal of dermatology.

Copper deficiency in patients with cystinosis with cysteamine toxicity.

A. De Paepe, L. P. Van den Heuvel, E. Levtchenko, 2013, The Journal of pediatrics.

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.

A. De Paepe, N. Zoppi, M. Colombi, 2004, The Journal of biological chemistry.

Osteogenesis imperfecta Phenotypes Resulting from Serine for Glycine Substitutions in the α2(I) Collagen Chain

A. De Paepe, L. Nuytinck, G. Fabry, 1997, European journal of human genetics : EJHG.

Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES.

Y. Fukushima, A. Palotie, A. De Paepe, 2000, Genomics.

Proteoglycan alterations in skin fibroblast cultures from patients affected with pseudoxanthoma elasticum

R. Tiozzo, A. De Paepe, G. De Luca, 1996, Cell biochemistry and function.

Identification of cytogenetic subclasses and recurring chromosomal aberrations in AML and MDS with complex karyotypes using m‐FISH

F. Speleman, L. Michaux, A. De Paepe, 2002, Genes, chromosomes & cancer.

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

A. De Paepe, A. Váradi, V. Pomozi, 2011, Cell cycle.

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

F. Speleman, J. Vandesompele, A. De Paepe, 2006, International journal of cancer.

Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

A. Bird, G. Holder, A. Webster, 2007, Investigative ophthalmology & visual science.

The revised Ghent nosology for the Marfan syndrome

Laurence Faivre, Paul Wordsworth, Richard B Devereux, 2010, Journal of Medical Genetics.

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

S. Terry, D. Matthys, A. De Paepe, 2007, The Journal of investigative dermatology.

Oral health in prevalent types of Ehlers-Danlos syndromes.

A. De Paepe, P. D. De Coster, L. Martens, 2005, Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology.

Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

C. Cremers, L. Sangiorgi, A. De Paepe, 2011, Orphanet journal of rare diseases.

Fluorescent in-situ hybridization on human embryos showing cleavage arrest after freezing and thawing.

A. De Paepe, J. Van der Elst, P. De Sutter, 1998, Human reproduction.

Aneurysm syndromes caused by mutations in the TGF-beta receptor.

P. Byers, D. Milewicz, H. Dietz, 2006, The New England journal of medicine.

Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions

A. De Paepe, B. Loeys, B. Callewaert, 2008, Genesis.

Matrix proteins with high affinity for calcium ions are associated with mineralization within the elastic fibers of pseudoxanthoma elasticum dermis.

A. De Paepe, A. Paepe, F. Boraldi, 1996, The American journal of pathology.

Comprehensive NF1 screening on cultured Schwann cells from neurofibromas

G. Mortier, F. Speleman, J. Vandesompele, 2006, Human mutation.

The Ehlers-Danlos syndrome.

A. De Paepe, F. Malfait, 2014, Advances in experimental medicine and biology.

Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues

A. De Paepe, M. J. Hosen, O. Vanakker, 2012, Scientifica.

Monosomy 22 in a mixed germ cell‐sex cord‐stromal tumor of the ovary

F. Speleman, A. De Paepe, N. Van Roy, 1997, Genes, chromosomes & cancer.

VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum

A. De Paepe, J. de Zaeytijd, M. J. Hosen, 2020, Clinical genetics.

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

S. Terry, M. Ramsay, D. Viljoen, 2007, Journal of Medical Genetics.

The Ehlers–Danlos syndrome, a disorder with many faces

A. De Paepe, A. Paepe, F. Malfait, 2012, Clinical genetics.

Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.

T. de Ravel, B. Menten, I. Casteels, 2011, Investigative ophthalmology & visual science.

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

Frank Speleman, Anne De Paepe, F. Speleman, 2002, International journal of cancer.

Acquired chromosomal rearrangements targeting selected transcription factors: contribution of molecular cytogenetic and expression analyses to the identification of clinically and biologically relevant subgroups in hematological malignancies.

F. Speleman, A. De Paepe, B. Poppe, 2007, Verhandelingen - Koninklijke Academie voor Geneeskunde van Belgie.

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

A. De Paepe, S. Janssens, P. Borry, 2017, BMC medical ethics.

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

G Mortier, Y Moreau, B De Moor, 2006, Journal of Medical Genetics.

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country

R. Hennekam, K. Girisha, S. Nampoothiri, 2014, American journal of medical genetics. Part A.

Type I Procollagen C‐Propeptide Defects: Study of Genotype–Phenotype Correlation and Predictive Role of Crystal Structure

A. De Paepe, J. Bourhis, P. Coucke, 2014, Human mutation.

Single‐strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers–Danlos syndrome type IV

A. De Paepe, L. Nuytinck, Lieve Nuytinck, 1994, Human mutation.

Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV.

A. De Paepe, J. Lloyd, P. Narcisi, 1991, Journal of medical genetics.

Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations

J. Hellemans, K. Claes, A. De Paepe, 2011, Human mutation.

Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients.

F. Speleman, J. Vermeesch, R. Sciot, 2006, Human molecular genetics.

Meta-analysis of Neuroblastomas Reveals a Skewed ALK Mutation Spectrum in Tumors with MYCN Amplification

Frank Speleman, Rogier Versteeg, Isabelle Janoueix-Lerosey, 2010, Clinical Cancer Research.

Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening

Stylianos E. Antonarakis, Filip Pattyn, Frank Speleman, 2009, PLoS genetics.

Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome.

A. De Paepe, R. De Rycke, N. Voermans, 2019, Human molecular genetics.

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

Ludwine Messiaen, Eva Machackova, Anne De Paepe, 2003, Genes, chromosomes & cancer.

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

F. Speleman, P. de Paepe, C. de Wolf‐Peeters, 2005, Genes, chromosomes & cancer.

Molecular cytogenetic analysis of complex chromosomal rearrangements in patients with mental retardation and congenital malformations: Delineation of 7q21.11 breakpoints

G. Mortier, F. Speleman, B. Menten, 2004, American journal of medical genetics. Part A.

Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion.

F. Speleman, A. De Paepe, L. Messiaen, 2002, American journal of medical genetics.

A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement

A. De Paepe, P. Vlummens, F. Malfait, 2011, PloS one.

Molecular cytogenetic and clinical findings in ETV6/ABL1‐positive leukemia

P. Marynen, F. Speleman, A. De Paepe, 2001, Genes, chromosomes & cancer.

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

A. Kariminejad, A. De Paepe, A. Willaert, 2013, American journal of human genetics.

Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors.

H. Smeets, C. Antignac, A. De Paepe, 1993, Science.

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

F. Speleman, J. Vandesompele, A. De Paepe, 2014, Cancer letters.

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

Frank Speleman, Björn Menten, Jo Vandesompele, 2006, Genes, chromosomes & cancer.

Pharmacogenomics in Children: Advantages and Challenges of Next Generation Sequencing Applications

A. De Paepe, A. Paepe, O. Vanakker, 2013, International journal of pediatrics.

Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.

L. Peltonen, T. Hirose, P. Beighton, 1996, American journal of human genetics.

Identification of an unbalanced X-autosome translocation by array CGH in a boy with a syndromic form of chondrodysplasia punctata brachytelephalangic type.

Frank Speleman, Björn Menten, Jo Vandesompele, 2005, European journal of medical genetics.

Closing in on the BPES gene on 3q23: mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta'-COP, distal to the breakpoint.

Y. Fukushima, F. Speleman, A. De Paepe, 1999, Genomics.

Assignment1 of the cellular retinol-binding protein 2 gene (RBP2) to human chromosome band 3q23 by in situ hybridization

F. Speleman, A. De Paepe, L. Messiaen, 1999, Cytogenetic and Genome Research.

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

Mads Thomassen, Nina Ditsch, Muhammad Usman Rashid, 2015, JAMA.

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

F. Speleman, J. Vandesompele, J. Philippé, 2006, Cancer research.

Human myosin V gene produces different transcripts in a cell type-specific manner.

J. Naeyaert, T. Callens, A. De Paepe, 1998, Biochemical and biophysical research communications.

Evidence for involvement of a tumor suppressor gene on 1p in malignant peripheral nerve sheath tumors.

F. Speleman, J. Vandesompele, R. Sciot, 2003, Cancer genetics and cytogenetics.

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

F. Speleman, A. Hagemeijer, C. Bastard, 2008, Haematologica.

Functional Analysis of the p53 Pathway in Neuroblastoma Cells Using the Small-Molecule MDM2 Antagonist Nutlin-3

F. Westermann, F. Speleman, J. Vandesompele, 2011, Molecular Cancer Therapeutics.

Next Generation Sequencing to Determine the Cystic Fibrosis Mutation Spectrum in Palestinian Population

K. Claes, A. De Paepe, W. Steyaert, 2015, Disease markers.

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience.

Frank Speleman, Björn Menten, Bart Loeys, 2009, European journal of medical genetics.

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

C. Bloomfield, F. Speleman, J. Vandesompele, 2004, Blood.

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

Michael Baudis, Holger Christiansen, Frank Speleman, 2005, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Triple colour fluorescent in-situ hybridization for chromosomes X,Y and 1 on spare human embryos.

A. De Paepe, P. De Sutter, M. Dhont, 1997, Human reproduction.

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation.

K. Devriendt, G. Mortier, E. Jabs, 2001, Human molecular genetics.

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

G. Berx, F. Speleman, B. Menten, 2004, BMC Genomics.

Combined M‐FISH and CGH analysis allows comprehensive description of genetic alterations in neuroblastoma cell lines

F. Speleman, J. Vandesompele, A. De Paepe, 2001, Genes, chromosomes & cancer.

Screening for EVI1: ectopic expression absent in T-cell acute lymphoblastic leukemia patients and cell lines.

F. Speleman, A. Hagemeijer, A. De Paepe, 2006, Cancer genetics and cytogenetics.

Identification of binding partners interacting with the α1-N-propeptide of type V collagen.

S. Ricard-Blum, A. De Paepe, P. Coucke, 2011, The Biochemical journal.

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

M. B. Pereira, A. Need, D. Nickerson, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Heritable collagen disorders: from phenotype to genotype.

A. De Paepe, 1998, Verhandelingen - Koninklijke Academie voor Geneeskunde van Belgie.

FOXL2 mutations and genomic rearrangements in BPES

A. De Paepe, D. Beysen, E. de Baere, 2009, Human mutation.

Radiation-induced damage to normal tissues after radiotherapy in patients treated for gynecologic tumors: association with single nucleotide polymorphisms in XRCC1, XRCC3, and OGG1 genes and in vitro chromosomal radiosensitivity in lymphocytes.

H. Thierens, A. Vral, L. de Ridder, 2005, International journal of radiation oncology, biology, physics.

FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions

A. Shelling, W. Reardon, R. Veitia, 2010, Human mutation.

Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: comparison of two high-resolution melting platforms.

Anne De Paepe, K. Claes, A. De Paepe, 2008, Clinical chemistry.

Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers‐Danlos syndrome

A. De Paepe, P. Calders, I. De Wandele, 2012, Arthritis care & research.

Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers–Danlos syndrome hypermobility type

A. De Paepe, A. Cools, P. Calders, 2010, Disability and rehabilitation.

Preterm Premature Rupture of Membranes in a Patient with the Hypermobility Type of the Ehlers-Danlos Syndrome

A. De Paepe, L. Nuytinck, C. Verellen, 1999, Fetal Diagnosis and Therapy.

Chondrodysplasia punctata with multiple congenital anomalies: a new syndrome?

G. Mortier, A. De Paepe, L. Messiaen, 1998, Pediatric Radiology.

Identification of 2 putative critical segments of 17q gain in neuroblastoma through integrative genomics

F. Antonacci, F. Speleman, B. Menten, 2007, International journal of cancer.

Attitudes of cystic fibrosis patients and their parents towards direct-to-consumer genetic testing for carrier status.

A. De Paepe, S. Janssens, P. Borry, 2015, Personalized medicine.

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

F. Speleman, J. Vandesompele, A. De Paepe, 2009, BMC Research Notes.

Comparative genomic hybridization analysis of human neuroblastomas: detection of distal 1p deletions and further molecular genetic characterization of neuroblastoma cell lines.

A. Jauch, F. Speleman, T. Cremer, 1997, Cancer genetics and cytogenetics.

Attitudes of health care professionals toward carrier screening for cystic fibrosis. A review of the literature

A. De Paepe, A. Paepe, S. Janssens, 2012, Journal of Community Genetics.

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

Paul Coucke, Marjolijn Renard, Bart Loeys, 2013, International journal of cardiology.

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

A. De Paepe, J. De Backer, L. Campens, 2013, Annals of cardiothoracic surgery.

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

M Claustres, C Binquet, E. Arbustini, 2007, American journal of human genetics.

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

Paul Coucke, Bart Loeys, Geert Mortier, 2002, Human molecular genetics.

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families

A. De Paepe, B. Callewaert, P. Coucke, 2017, Molecular genetics & genomic medicine.

Occipital Horn syndrome in a 2-year-old boy.

K. Devriendt, J. Fryns, A. De Paepe, 1999, Clinical dysmorphology.

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.

J. Raes, Y. Peer, Y. van de Peer, 2005, American journal of human genetics.

UvA-DARE ( Digital Academic Repository ) FOXL 2 and BPES : Mutational hotspots , phenotypic variability , and revision of the genotype-phenotype correlation

K. Devriendt, B. Lorenz, R. Veitia, 2017 .

Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization.

F. Speleman, H. Brunner, L. Looijenga, 1991, American journal of medical genetics.

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

A. De Paepe, B. Loeys, L. Nuytinck, 2001, Archives of internal medicine.

Second family with the boston‐type craniosynostosis syndrome: Novel mutation and expansion of the clinical spectrum

A. De Paepe, M. J. Hosen, P. Coucke, 2013, American journal of medical genetics. Part A.

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

S. Nik-Zainal, K. Devriendt, R. Hennekam, 2008, Human mutation.

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

H. Kayserili, A. De Paepe, H. Bächinger, 2013, Orphanet Journal of Rare Diseases.

Bruck syndrome: neonatal presentation and natural course in three patients

Y. Gillerot, A. Verloes, A. De Paepe, 1998, Pediatric Radiology.

The molecular genetics of Marfan syndrome and related disorders

P. Robinson, D. Milewicz, D. Judge, 2006, Journal of Medical Genetics.

Leapfrogging with technology: introduction of a monitoring platform to support a large-scale Ebola vaccination program in Rwanda

E. Karita, A. De Paepe, J. Mazarati, 2021, Human vaccines & immunotherapeutics.

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

E. Arbustini, U. Francke, C. Béroud, 2009, American journal of medical genetics. Part A.

Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency.

A. De Paepe, P. Willems, S. Spitaels, 1991, Journal of medical genetics.

Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.

J. Naeyaert, A. De Paepe, L. Nuytinck, 1997, American journal of human genetics.

Correlation of linkage data with phenotype in eight families with Stickler syndrome.

G. Mortier, A. De Paepe, M. Shohat, 1998, American journal of medical genetics.

Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene

Catherine Boileau, Beat Steinmann, Gábor Mátyás, 2002, Human mutation.

Refined physical mapping and genomic structure of the EXTL1 gene

F. Speleman, R. Versteeg, A. De Paepe, 1999, Cytogenetic and Genome Research.

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

G. Mortier, S. Nampoothiri, A. De Paepe, 2013, Orphanet Journal of Rare Diseases.

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

F. Speleman, J. Vandesompele, J. Philippé, 2011, British journal of haematology.

Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome

A. De Paepe, B. Loeys, P. Coucke, 2007, Clinical genetics.

Oral manifestations of patients with Marfan syndrome: a case-control study.

A. De Paepe, P. D. De Coster, L. Martens, 2002, Oral surgery, oral medicine, oral pathology, oral radiology, and endodontics.

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

G. Mortier, J. Hellemans, A. De Paepe, 2003, American Journal of Human Genetics.

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

F. Speleman, J. Vandesompele, J. Marine, 2009, Journal of the National Cancer Institute.

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

A. De Paepe, M. J. Hosen, P. Coucke, 2014, Orphanet Journal of Rare Diseases.

Carrier screening for cystic fibrosis in a prenatal setting.

G. Mortier, A. De Paepe, L. Messiaen, 2001, Genetic testing.

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

K. Claes, A. De Paepe, B. Poppe, 2009, The Journal of molecular diagnostics : JMD.

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 1 patients

Frank Speleman, Rogier Versteeg, Jo Vandesompele, 2002, Genes, chromosomes & cancer.

Chromosome 2 short arm translocations revealed by M-FISH analysis of neuroblastoma cell lines.

F. Speleman, J. Vandesompele, A. De Paepe, 2000, Medical and pediatric oncology.

Efficiency of Exome Sequencing for the Molecular Diagnosis of Pseudoxanthoma Elasticum

G. Leftheriotis, D. Deforce, A. De Paepe, 2014, The Journal of investigative dermatology.

Novel clinico‐molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart

S. Terry, D. Matthys, J. Uitto, 2008, Human mutation.

Expressed Repeat Elements Improve RT-qPCR Normalization across a Wide Range of Zebrafish Gene Expression Studies

F. Speleman, J. Vandesompele, A. De Paepe, 2014, PloS one.

Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data: A report from the Marfan Treatment Trialists' Collaboration

A. Zwinderman, E. Arbustini, S. Neubauer, 2015, American heart journal.

Functional polymorphism in gamma-glutamylcarboxylase is a risk factor for severe neonatal hemorrhage.

A. De Paepe, P. Coucke, O. Vanakker, 2011, The Journal of pediatrics.

Molecular cytogenetic characterization of marker chromosomes found at prenatal diagnosis

F. Speleman, A. De Paepe, N. Van Roy, 1993, Prenatal diagnosis.

CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation.

R. Kooy, A. De Paepe, A. Brinkmann, 1999, American journal of medical genetics.

Characterization of Cardiovascular Involvement in Pseudoxanthoma Elasticum Families

P. Segers, T. D. de Backer, A. De Paepe, 2013, Arteriosclerosis, thrombosis, and vascular biology.

Visceral and testicular calcifications as part of the phenotype in pseudoxanthoma elasticum: ultrasound findings in Belgian patients and healthy carriers.

A. De Paepe, P. Coucke, O. Vanakker, 2006, The British journal of radiology.

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

P. Robinson, E. Arbustini, C. Béroud, 2012, American journal of human genetics.

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

C. Bodemer, M. Kempers, A. Plomp, 2013, Orphanet Journal of Rare Diseases.

Cutis laxa of the autosomal recessive type in a consanguineous family.

J. Lambert, J. Naeyaert, A. De Paepe, 2003, European journal of dermatology : EJD.

The use of Tissue Doppler Imaging for the assessment of changes in myocardial structure and function in inherited cardiomyopathies.

J. De Sutter, D. Matthys, T. Gillebert, 2005, European journal of echocardiography : the journal of the Working Group on Echocardiography of the European Society of Cardiology.

The Ghent Marfan Trial--a randomized, double-blind placebo controlled trial with losartan in Marfan patients treated with β-blockers.

E. Goetghebeur, C. Vervaet, P. Segers, 2012, International journal of cardiology.

Primary impairment of left ventricular function in Marfan syndrome.

Patrick Segers, Dirk Matthys, Daniel Devos, 2006, International journal of cardiology.

Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome

T. de Ravel, R. Hennekam, J. Clayton-Smith, 2008, Human mutation.

Unusual oral findings in dermatosparaxis (Ehlers-Danlos syndrome type VIIC).

A. De Paepe, P. D. De Coster, L. Martens, 2003, Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology.

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

B. Menten, A. De Paepe, W. Steyaert, 2018, Scientific Reports.

Vitamin D receptor gene allelic variants, bone density, and bone turnover in community-dwelling men.

A. De Paepe, D. De Bacquer, S. Goemaere, 2002, Bone.

An Exploratory Case-Control Study on the Impact of IL-1 Gene Polymorphisms on Early Implant Failure.

H. De Bruyn, A. De Paepe, P. Coucke, 2016, Clinical implant dentistry and related research.

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

T. D. de Backer, A. De Paepe, P. van de Borne, 2014, Seminars in arthritis and rheumatism.

Impairment and impact of pain in female patients with Ehlers-Danlos syndrome: a comparative study with fibromyalgia and rheumatoid arthritis.

G. Verbruggen, A. De Paepe, P. Calders, 2011, Arthritis and rheumatism.

Arterial tortuosity syndrome: 40 new families and literature review

K. Devriendt, K. Prescott, H. Dietz, 2018, Genetics in Medicine.

Association of the Type I Collagen alpha1 Sp1 Polymorphism, Bone Density and Upper Limb Muscle Strength in Community-Dwelling Elderly Men

J. Kaufman, A. De Paepe, L. Nuytinck, 2001, Osteoporosis International.

A clinical scoring system for congenital contractural arachnodactyly

A. Green, Alison M. Male, F. McKenzie, 2019, Genetics in Medicine.

Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation

H. Kayserili, A. De Paepe, L. Nuytinck, 2000, Journal of medical genetics.

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

S. Nampoothiri, A. De Paepe, P. Vlummens, 2010, Human mutation.

ArrayCGH‐based classification of neuroblastoma into genomic subgroups

Frank Speleman, Björn Menten, Rogier Versteeg, 2007, Genes, chromosomes & cancer.

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

F. Speleman, J. Vandesompele, A. De Paepe, 2003, Cancer Letters.

CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments

A. De Paepe, W. Steyaert, A. Boel, 2018, Disease Models & Mechanisms.

Trisomy 3 mosaicism in a patient with Bartter syndrome.

A. De Paepe, F. de Keyser, M. Matton, 1988, Journal of medical genetics.

Muscle–tendon tissue properties in the hypermobility type of Ehlers‐Danlos syndrome

P. Segers, A. De Paepe, P. Calders, 2012, Arthritis care & research.

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

A. De Paepe, T. Palmans, P. Calders, 2011, Arthritis care & research.

Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos Syndrome.

T. D. de Backer, A. De Paepe, P. Calders, 2016, Rheumatology.

Autonomic symptom burden in the hypermobility type of Ehlers-Danlos syndrome: a comparative study with two other EDS types, fibromyalgia, and healthy controls.

T. D. de Backer, A. De Paepe, P. Calders, 2014, Seminars in arthritis and rheumatism.

The human FOXL2 mutation database

J. Vandesompele, A. De Paepe, L. Messiaen, 2004, Human mutation.

Pulse wave velocity recordings in a family with ecchymotic Ehlers-Danlos syndrome.

A. De Paepe, D. Clément, M. Matton, 1986, International angiology : a journal of the International Union of Angiology.

The Ehlers-Danlos Syndrome: A Heritable Collagen Disorder as Cause of Bleeding

A. De Paepe, 1996, Thrombosis and Haemostasis.

Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.

G. Mortier, A. De Paepe, I. Dhooge, 2014, Molecular genetics and metabolism.

Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.

G. Mortier, L. Biesecker, D. Rimoin, 1998, American journal of human genetics.

Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1.

K. Devriendt, G. Mortier, J. Vandesompele, 2010, The Journal of clinical endocrinology and metabolism.

Orofacial manifestations of congenital fibrillin deficiency: pathogenesis and clinical diagnostics.

A. De Paepe, P. D. De Coster, L. Martens, 2004, Pediatric dentistry.

HOXA gene cluster rearrangement in a t(7;9)(p15;q34) in a child with MDS.

F. Speleman, A. De Paepe, B. Poppe, 2005, Cancer genetics and cytogenetics.

Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null‐allele testing

A. De Paepe, L. Nuytinck, B. Şayli, 1999, Prenatal diagnosis.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

A. Hoischen, T. Meitinger, T. Strom, 2020, American journal of human genetics.

Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke

A. De Paepe, D. Hemelsoet, J. de Zaeytijd, 2018, Brain pathology.

Intrinsic cardiomyopathy in Marfan syndrome: results from in-vivo and ex-vivo studies of the Fbn1C1039G/+ model and longitudinal findings in humans

J. De Sutter, P. Segers, A. De Paepe, 2015, Pediatric Research.

Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys‐Dietz syndromes

B. Menten, J. Hellemans, A. De Paepe, 2011, Human mutation.

Dural ectasia and the diagnosis of Marfan's syndrome

A. De Paepe, A. Paepe, 1999, The Lancet.

Assignment1 of the cellular retinol-binding protein 1 gene (RBP1) and of the coatomer beta` subunit gene (COPB2) to human chromosome band 3q23 by in situ hybridization

F. Speleman, A. De Paepe, L. Messiaen, 1998, Cytogenetic and Genome Research.

Assignment1 of SHOX2 (alias OG12X and SHOT) to human chromosome bands 3q25→q26.1 by in situ hybridization

F. Speleman, A. De Paepe, L. Messiaen, 1998, Cytogenetic and Genome Research.

7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.

A. De Paepe, J. Andrieux, Toshiyuki Yamamoto, 2016, European journal of medical genetics.

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

A. De Paepe, P. Calders, L. Rombaut, 2015, American journal of medical genetics. Part C, Seminars in medical genetics.

Unusual familial manifestation of Ehlers-Danlos syndrome.

A. De Paepe, F. de Keyser, M. Matton, 1982, Progress in clinical and biological research.

Arterial tortuosity syndrome: 40 new families and literature review

K. Devriendt, K. Prescott, H. Dietz, 2017, Genetics in Medicine.

Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India

B. Menten, A. De Paepe, B. Callewaert, 2021, The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.

Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta

A. De Paepe, M. Whiteford, P. Coucke, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation.

A. De Paepe, B. Loeys, E. Tuğ, 2010, Genetic counseling.

Met>Val substitution in a highly conserved region of the pro-α1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype

A. De Paepe, E. Legius, L. Nuytinck, 2004, Journal of Medical Genetics.

A four base pair insertion polymorphism in the 3' untranslated region of the COL1A1 gene is highly informative for null-allele testing in patients with osteogenesis imperfecta type I.

A. De Paepe, L. Nuytinck, C. Coppin, 1998, Matrix biology : journal of the International Society for Matrix Biology.

Substitution of glycine‐172 by arginine in the α1 chain of type I collagen in a patient with osteogenesis imperfecta, type III

R. Dalgleish, A. De Paepe, L. Nuytinck, 1994, Human mutation.

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

S. Terry, K. Csiszȧr, A. De Paepe, 2000, Nature Genetics.

Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

George H. Thomas, Julie De Backer, Paul Coucke, 2006 .

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Wolfram Kress, Julie De Backer, Jan Hellemans, 2005, Nature Genetics.

Tissue‐specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome

A. De Paepe, W. Steyaert, P. Coucke, 2017, American journal of medical genetics. Part A.

Prevalence of the Cys282Tyr and His63Asp mutation in Flemish patients with hereditary hemochromatosis.

H. Van Vlierberghe, A. De Paepe, L. Messiaen, 2000, Acta gastro-enterologica Belgica.

Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

K. Heimdal, K. Prescott, F. Sciurba, 2013 .

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

Dinesh Kumar Yadav, A. De Paepe, B. Callewaert, 2014, Journal of Pediatric Genetics.

Novel dental anomalies associated with congenital contractural arachnodactyly: a case report.

A. De Paepe, P. D. De Coster, L. Martens, 2004, Pediatric dentistry.

Substitution of glycine-661 by serine in the alpha1(I) and alpha2(I) chains of type I collagen results in different clinical and biochemical phenotypes.

R. Dalgleish, A. De Paepe, L. Nuytinck, 1996, Human Genetics.

Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.

J. Timmermans, F. Mattace-Raso, J. Roos‐Hesselink, 2012, Journal of the American College of Cardiology.

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

A. De Paepe, B. Loeys, P. Coucke, 2009, Human mutation.

The Ghent Marfan Trial--a randomized, double-blind placebo controlled trial with losartan in Marfan patients treated with β-blockers.

E. Goetghebeur, C. Vervaet, P. Segers, 2012, International journal of cardiology.

Cardiovascular manifestations in men and women carrying a FBN1 mutation.

C. Béroud, G. Collod-Béroud, A. De Paepe, 2010, European heart journal.

The microRNA body map: dissecting microRNA function through integrative genomics

Dana Ridzon, F. Speleman, J. Vandesompele, 2011, Nucleic acids research.

The Molecular Genetics of Marfan Syndrome and Related Disorders the Fibrillin-ltbp Gene Family

D. Milewicz, G. Collod-Béroud, A. De Paepe, 2022 .

methGraph: A genome visualization tool for PCR-based methylation assays

F. Speleman, J. Vandesompele, G. Tusnády, 2010, Epigenetics.

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: A model for the diagnosis and treatment of rare diseases in a developing country

R. Hennekam, K. Girisha, S. Nampoothiri, 2014, American journal of medical genetics. Part A.

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

A. De Paepe, P. Calders, L. Rombaut, 2015, American journal of medical genetics. Part C, Seminars in medical genetics.

Muscle mass, muscle strength, functional performance, and physical impairment in women with the hypermobility type of Ehlers‐Danlos syndrome

A. De Paepe, P. Calders, L. Rombaut, 2012, Arthritis care & research.

The Ehlers-Danlos syndrome.

A. De Paepe, F. Malfait, 2014, Advances in experimental medicine and biology.

Orthostatic intolerance and fatigue in the hypermobility type of Ehlers-Danlos Syndrome.

T. D. de Backer, A. De Paepe, P. Calders, 2016, Rheumatology.

Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.

J. Timmermans, F. Mattace-Raso, J. Roos‐Hesselink, 2012, Journal of the American College of Cardiology.

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

A. Kariminejad, A. De Paepe, A. Willaert, 2013, American journal of human genetics.

Efficacy of losartan as add-on therapy to prevent aortic growth and ventricular dysfunction in patients with Marfan syndrome: a randomized, double-blind clinical trial

A. De Paepe, D. Devos, J. De Backer, 2017, Acta cardiologica.

FOXL2 mutations and genomic rearrangements in BPES

A. De Paepe, D. Beysen, E. de Baere, 2009, Human mutation.

Psychosocial adaptation in adolescents and young adults with Marfan syndrome: an exploratory study.

A. De Paepe, A. Paepe, A. V. Tongerloo, 1998 .

qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data

G. Mortier, F. Speleman, J. Vandesompele, 2007, Genome Biology.