A. Paepe

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Exon 10b of the NF1 gene represented a mutational hotspot and harbors a recurrent missense mutation y489c associated with aberrant splicing

J. Vance, G. Mortier, T. Callens, 1999, Genetics in Medicine.

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects

G Mortier, T Callens, G. Mortier, 2000, Human mutation.

Using GlycoDelete to produce proteins lacking plant-specific N-glycan modification in seeds

A. Depicker, N. Callewaert, A. Paepe, 2015, Nature Biotechnology.

syndromefibrillin 1 genotype in patients with Marfan's Variability of aortic stiffness is not associated with

G. Pals, A. Paepe, K. Verstraete, 2006 .

prolyl 3-hydroxylation identification of the splice form responsible for mutations : clinical documentation andLEPRE 1 Recessive osteogenesis imperfecta caused

G. Mortier, A. Mégarbané, H. Kayserili, 2009 .

Osteogenesis imperfecta

P. Byers, N. Bishop, A. Paepe, 2017, Nature Reviews Disease Primers.

Quantification of MYCN, DDX1, and NAG Gene Copy Number in Neuroblastoma Using a Real-Time Quantitative PCR Assay

F. Speleman, J. Vandesompele, J. Lunec, 2002, Modern Pathology.

Marfan and Marfan-like syndromes

A. Paepe, B. Loeys, J. Backer, 2009 .

BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families

K. Claes, L. Messiaen, A. Paepe, 2004, British Journal of Cancer.

Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing

M. Blok, C. J. Asperen, G. Matthijs, 2012, Breast Cancer Research and Treatment.

Creatine transporter defect masquerading as Lujan Syndrome

R. Stevenson, A. Paepe, J. Leroy, 2019 .

New insights into the pathogenesis and treatment of arterial aneurysms and dissections

A. Paepe, B. Loeys, B. Callewaert, 2007 .

A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in theTGFBR2 gene substantiates interindividual clinical variability

A. Latos-Bieleńska, A. Paepe, B. Loeys, 2010, Journal of Applied Genetics.

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

G. Jondeau, A. Paepe, L. Faivre, 2011, European Journal of Human Genetics.

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

E. Arbustini, G. Jondeau, G. Collod-Béroud, 2010, European Journal of Human Genetics.

Arterial Tortuosity Syndrome

A. Paepe, B. Callewaert, P. Coucke, 2014 .

GLUT 10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGF b signaling

S. Crosby, A. Paepe, B. Callewaert, 2012 .

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

E. Arbustini, G. Jondeau, G. Collod-Béroud, 2018 .

Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year

E. Arbustini, U. Francke, G. Jondeau, 2011, Pediatric Research.

Mutation analysis of the FBN1 gene in individuals with Marfan syndrome: sensitivity, methods, clinical indications

A. Paepe, B. Loeys, P. Coucke, 2005 .

The growing role of professional societies in educating clinicians in genomics

T. Manolio, E. Arbustini, D. Milewicz, 2014, Genetics in Medicine.

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

H. Dietz, A. Paepe, B. Loeys, 2006, Nature Genetics.

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

M. Vos, L. Messiaen, A. Paepe, 2000 .

Selective inhibition of the p53–MDM2 interaction by nutlin drugs: a new therapeutic perspective for neuroblastoma

F. Speleman, J. Vandesompele, A. Paepe, 2013 .

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

J. Vandesompele, K. Dahan, K. Claes, 2002, Oncogene.

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

A. Green, I. Kaitila, R. Hennekam, 2010, European Journal of Human Genetics.

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

J. Oosterwijk, M. Thiry, A. Paepe, 2004, The Journal of investigative dermatology.

Osteogenesis imperfecta

P. Byers, N. Bishop, A. Paepe, 2012, Nature Reviews Disease Primers.

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

A. Gezdirici, M. B. Duz, M. Seven, 2017, Clinical dysmorphology.

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

A. Paepe, L. Møller, A. Heiberg, 2013, European Journal of Human Genetics.

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.

Emerging patterns of cryptic chromosomal imbalances in patients with idiopathic mental retardation and multiple congenital anomalies

Y. Moreau, K. Devriendt, G. Mortier, 2006 .

ACCUMULATING BACTERIA IN CRUSTACEAN LARVICULTURE

G. Huylenbroeck, A. Paepe, P. Bossier, 2015 .

Evaluation of CRE-mediated excision approaches in Arabidopsis thaliana

A. Depicker, A. Paepe, S. D. Buck, 2008, Transgenic Research.

Association of multiple intracranial aneurysms and collagen type III deficiency

A. Paepe, F. Keyser, J. Reuck, 1988, Clinical Neurology and Neurosurgery.

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

P. Robinson, E. Arbustini, G. Jondeau, 2015, European Journal of Human Genetics.

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

F. Speleman, J. Vandesompele, P. Parsons, 2004, Oncogene.

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

A. Paepe, S. Janssens, P. Borry, 2015, European Journal of Human Genetics.

Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigree

R. Dalgleish, A. Paepe, F. Keyser, 1988, Human Genetics.

A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV

A. Paepe, J. Lloyd, P. Narcisi, 2004, Human Genetics.

Aneurysm Syndromes Caused by Mutations in the TGF-β Receptor

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

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

Philippe Debeer, Frank Speleman, Jan Hellemans, 2004, Nature Genetics.

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.

Miikka Vikkula, Laurence M. Boon, Andrea Superti-Furga, 2001, Cell.

Evidence for a relationship between Ehlers–Danlos type VII C in humans and bovine dermatosparaxis

A. Paepe, L. Nuytinck, G. Piérard, 1992, Nature Genetics.

Ehlers‐Danlos syndrome type I: a clinical and ultrastructural study of a family with reduced amounts of collagen type III

A. Paepe, F. Keyser, P. Narcisi, 1987, The British journal of dermatology.

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

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

Mutation analysis of P73 and TP53 in Merkel cell carcinoma

F. Speleman, C. Wolf‐Peeters, R. Sciot, 2000, British Journal of Cancer.

Type III collagen mutations in Ehlers Danlos Syndrome type IV and other related disorders

A. Paepe, J. McEwan, D. Compston, 1988, Clinical and experimental dermatology.

Molecular cytogenetic analysis of XX males using Y-specific DNA sequences, including SRY

F. Speleman, A. Paepe, I. Liebaers, 1992, Human Genetics.

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

F. Speleman, C. Petit, R. Coimbra, 2003, Nature Genetics.

disorder correlation in patients with a lethal type II collagen mutations with analysis of genotype-phenotype COL 2 A 1 Report of five novel and one recurrent

D. Eyre, A. Paepe, L. Nuytinck, 1999 .

A new recurrent inversion, inv(7)(p15q34), leads to transcriptional activation of HOXA10 and HOXA11 in a subset of T-cell acute lymphoblastic leukemias

P. Marynen, F. Speleman, J. Vandesompele, 2005, Leukemia.

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

R. Reinhardt, J. Hellemans, A. Swaroop, 2005, Nature Genetics.

Molecular cytogenetic study of 126 unselected T-ALL cases reveals high incidence of TCRβ locus rearrangements and putative new T-cell oncogenes

F. Speleman, A. Hagemeijer, A. Paepe, 2006, Leukemia.

Quantification of splice variants using real-time PCR

Jo Vandesompele, Ina I. Vandenbroucke, Anne De Paepe, 2001, Nucleic Acids Res..

Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCRβ-HOXA rearrangement: a study of the Groupe Francophone de Cytogénétique Hématologique

F. Speleman, A. Hagemeijer, F. Sigaux, 2007, Leukemia.

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

Brian J. Stevenson, M. Hauschild, Huanming Yang, 2018, European journal of endocrinology.

Imperfect protection: NEPA at 35 years.

Frank Speleman, Anne De Paepe, Jo Vandesompele, 2004, Genome Biology.

Mutations in ATP 6 V 1 E 1 or ATP 6 V 1 A Cause Autosomal-Recessive Cutis Laxa

A. Hoischen, T. Meitinger, T. Strom, 2016 .

CADM 1 is a strong neuroblastoma candidate gene that maps within a 3 . 72 Mb critical region of loss on 11 q 23 .

F. Speleman, J. Vandesompele, A. Paepe, 2019 .

Clinical Cancer esearch an Cancer Biology a-analysis of Neuroblastomas Reveals a Skewed ALK R ation Spectrum in Tumors with MYCN Amplification

Vermeulen, F. Speleman, J. Vandesompele, 2010 .

The ABCC6 transporter: what lessons can be learnt from other ATP-binding cassette transporters?

A. Paepe, M. J. Hosen, O. Vanakker, 2013, Front. Genet..

Escape from p53-mediated tumor surveillance in neuroblastoma: switching off the p14ARF-MDM2-p53 axis

F. Speleman, J. Vandesompele, A. Paepe, 2009, Cell Death and Differentiation.

Rapid detection of VHL exon deletions using real-time quantitative PCR

F. Speleman, J. Vandesompele, K. Claes, 2005, Laboratory Investigation.

Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome

L. Schurgers, A. Paepe, P. Coucke, 2010, Laboratory Investigation.

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

A. Paepe, S. Janssens, P. Borry, 2012, Journal of Community Genetics.

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region

N. Chassaing, A. Paepe, P. Coucke, 2010, Journal of Human Genetics.

The Arabidopsis Mutant alh 1 Illustrates a Cross Talk between Ethylene and Auxin 1

D. Straeten, Filip Vandenbussche, K. Palme, 2003 .

Real-time qPCR as a tool for evaluating RNAi-mediated gene silencing

F. Speleman, J. Vandesompele, J. Marine, 2008 .

Transgene expression in plants, control of

A. Depicker, A. Paepe, S. D. Buck, 2012 .

Unveiling the C1000TM Thermal Cycler’s Protocol Autowriter ProteOnTM XPR36 Protein Interaction Array System Named Product of the Year Optimizing Sample and Bead Volumes for Low-Abundance Protein Enrichment Obtaining Pure Native Protein Via On-Column Cleavage in Less Than One Hour

F. Speleman, J. Vandesompele, A. Paepe, 2008 .

Connective Tissue Disorders

H. Dietz, A. Paepe, B. Loeys, 2009 .

Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

H. Dietz, O. Başpınar, M. Earing, 2010, European Journal of Human Genetics.

Molecular analysis in a large cohort of patients with anterior segment malformations: expanding the spectrum of FOXC1/PITX2 mutations and copy number changes

B. Menten, I. Casteels, R. Oldenburg, 2010 .

arrayCGHbase: an analysis platform for comparative genomic hybridization microarrays

Bart De Moor, Yves Moreau, Jo Vandesompele, 2005, BMC Bioinformatics.

Marfan Database (third edition): new mutations and new routines for the software

Hanns-Georg Klein, Christophe Béroud, Gwenaëlle Collod-Béroud, 1998, Nucleic Acids Res..

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24–32 mutation

E. Arbustini, U. Francke, C. Béroud, 2009, European 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 .

) FOXL 2 and BPES : Mutational hotspots , phenotypic variability , and revision of the genotype-phenotype correlation

K. Devriendt, B. Lorenz, R. Veitia, 2003 .

RTPrimerDB: the Real-Time PCR primer and probe database

Jo Vandesompele, Filip Pattyn, Frank Speleman, 2003, Nucleic Acids Res..

Molecular cytogenetic analysis of 10;11 rearrangements in acute myeloid leukemia

F. Speleman, A. Paepe, B. Poppe, 2002, Leukemia.

Genetic heterogeneity of neuroblastoma studied by comparative genomic hybridization

F. Speleman, J. Vandesompele, E. Schuuring, 1998, Genes, chromosomes & cancer.

Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing

K. Claes, A. Paepe, B. Poppe, 2012, Breast Cancer Research and Treatment.

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

Jo Vandesompele, Robert Herzog, Filip Pattyn, 2006, BMC Bioinformatics.

Familial meningioma Case report with cytogenetic study

A. Paepe, A. Vakaet, W. Landegem, 1988, Clinical Neurology and Neurosurgery.

EFEMP2-related cutis laxa

A. Paepe, B. Loeys, Z. Urban, 2015 .

Breakthrough Technologies Generation of Single-Copy T-DNA Transformants in Arabidopsis by the CRE / loxP Recombination-Mediated Resolution System 1

A. Depicker, A. Paepe, C. Wilde, 2007 .

Ethylene biosynthesis and signaling : An overview

D. Straeten, A. Paepe, 2005 .

Study of ethylene signalling in Arabidopsis thaliana by transcript profiling and mutant analysis

A. Paepe, 2004 .

Molecular dissection of isolated disease features in mosaic NF1 patients

F. Speleman, J. Vandesompele, L. Messiaen, 2007 .

Stickler syndrome: comprehensive clinical and molecular analysis

G. Mortier, A. Paepe, I. Dhooge, 2016 .

Refined Genetic and Physical Mapping of BPES Type II

F. Speleman, L. Messiaen, A. Paepe, 1996, European journal of human genetics : EJHG.

Wall shear stress in the mouse aortic arch: does size matter?

P. Segers, A. Paepe, B. Loeys, 2009 .

Identification and characterisation of a founder mutation in the Belgian breast/ovarian cancer population

M. Vos, K. Claes, L. Messiaen, 2000 .

Human Fibroblasts with Mutations in COL 5 A 1 and COL 3 A 1 Genes Do Not Organize Collagens and Fibronectin in the Extracellular

A. Paepe, N. Zoppi, M. Colombi, 2004 .

Specific dyslexia with familial neurological defects: A problem in genetic counseling

A. Rouck, E. Thiery, A. Paepe, 1982 .

Ethylene Signaling: More Players in the Game

M. Montagu, D. Straeten, Filip Vandenbussche, 1999 .

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

F. Speleman, A. Paepe, B. Dermaut, 1997 .

Analysis of 22 cystic fibrosis mutations in 62 patients from the Flanders, Belgium, reveals a high prevalence of Nordic mutation 394delTT

L. Messiaen, A. Paepe, R. Rossau, 1997, Human mutation.

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

J. Vandesompele, A. Hagemeijer, K. Mrózek, 2013 .

Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes

J. Fryns, A. Paepe, L. Nuytinck, 1997, Human Genetics.

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

F. Speleman, J. Vandesompele, A. Paepe, 2005, Nucleic Acids Res..

Direct-to-consumer genetic testing for health-related purposes in the European Union

M. Nöthen, X. Estivill, A. Metspalu, 2012 .

Substitution of glycine-661 by serine in the α1(I) and α2(1) chains of type I collagen results in different clinical and biochemical phenotypes

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

R. Dalgleish, A. Paepe, B. Steinmann, 1994, Human Genetics.

Gene Expression Profiling Reveals Two Distinct Subtypes of Merkel Cell Carcinoma

F. Speleman, P. Parsons, A. Paepe, 2003 .

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

H. Kayserili, A. Paepe, L. Nuytinck, 1999 .

A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome

H. Dietz, A. Paepe, B. Loeys, 2006, Genetics in Medicine.

UKCCCR guidelines for the use of cell lines in cancer research

T. Thangarajah, M. Hattori, N. Saitou, 1999, Cytogenetic and Genome Research.

A genome-wide linkage scan for low spinal bone mineral density in a single extended family confirms linkage to 1p36.3

J. Kaufman, A. Paepe, S. Goemaere, 2008, European Journal of Human Genetics.

Mutations in the COL 5 A 1 Gene Are Causal in the Ehlers-Danlos Syndromes

J. Naeyaert, A. Paepe, I. Anton‐Lamprecht, 2006 .

Design and rational 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, M. Flather, 2015 .