P. Coucke

P. Coucke, A. Hammad, M. Al-Haggar, 2017, Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia.

First report of the genetic background of Marfan syndrome in Polish patients.

A. De Paepe, P. Coucke, J. De Backer, 2013, Polskie Archiwum Medycyny Wewnetrznej.

The new Ghent criteria for Marfan syndrome: what do they change?

E. Arbustini, U. Francke, C. Béroud, 2012, Clinical genetics.

Mutation analysis of the FBN1 gene in patients with Marfan syndrome.

A. De Paepe, P. Van Acker, P. Coucke, 2006, Methods in molecular medicine.

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

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

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome

G. Pals, A. De Paepe, B. Loeys, 2004, Human mutation.

Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome.

P. van Bogaert, J. de Zaeytijd, F. Meire, 2014, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

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

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

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

S. Menon, S. Nampoothiri, A. De Paepe, 2012, Orphanet Journal of Rare Diseases.

microCT-Based Skeletal Phenomics in Zebrafish Reveals Virtues of Deep Phenotyping at the Whole-Organism Scale

Ronald Y. Kwon, P. Coucke, A. Willaert, 2017 .

MicroCT-based phenomics in the zebrafish skeleton reveals virtues of deep phenotyping in a distributed organ system

Ronald Y. Kwon, P. Coucke, A. Willaert, 2017, bioRxiv.

1 microCT-Based Skeletal Phenomics in Zebrafish Reveals Virtues of Deep Phenotyping at the Whole-Organism Scale Short Title : Skeletal Phenomics in Zebrafish

Ronald Y. Kwon, Andy, P. Coucke, 2017 .

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

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.

Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA

D. De Wolf, W. Steyaert, B. Callewaert, 2022, Genes.

CARD15 polymorphisms are associated with anti‐Saccharomyces cerevisiae antibodies in caucasian Crohn's disease patients

D. Laukens, M. De Vos, E. Remaut, 2005, Clinical and experimental immunology.

Novel insights into the structure and transport mechanisms of TAPT1

Md. Niaz Morshed, Md Sorwer Alam Parvez, S. Anwar, 2020, bioRxiv.

Comprehensive re-assessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum

P. Coucke, O. Vanakker, S. Verschuere, 2019 .

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis

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

Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11.

S. Bhasin, P. Coucke, G. Van Camp, 1997, Genomics.

Altered cytoskeletal organization characterized lethal but not surviving Brtl+/- mice: insight on phenotypic variability in osteogenesis imperfecta.

R. Gioia, C. Landi, K. Kozloff, 2015, Human molecular genetics.

Comparison of Methods for In-House Screening of HLA-B*57:01 to Prevent Abacavir Hypersensitivity in HIV-1 Care

J. Philippé, P. Van Acker, L. Vandekerckhove, 2015, PloS one.

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.

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..

Decreased Nuclear Ascorbate Accumulation Accompanied with Altered Genomic Methylation Pattern in Fibroblasts from Arterial Tortuosity Syndrome Patients

G. Bánhegyi, Csilla E. Németh, É. Margittai, 2019, Oxidative medicine and cellular longevity.

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.

Czech dysplasia metatarsal type: another type II collagen disorder

D. Sillence, G. Mortier, T. Cole, 2007, European Journal of Human 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.

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.

G protein–coupled receptor kinase 6 (GRK6) regulates insulin processing and secretion via effects on proinsulin conversion to insulin

J. Benovic, R. Al-awar, W. Steyaert, 2022, The Journal of biological chemistry.

Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta

Rachel B. Keller, D. Nickerson, M. Bamshad, 2021, HGG advances.

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

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

Dermatosparaxis (Ehlers–Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery

B. Wagner, P. Coucke, Marta C. Cohen, 2013, American journal of medical genetics. Part A.

Maximizing CRISPR/Cas9 phenotype penetrance applying predictive modeling of editing outcomes in Xenopus and zebrafish embryos

M. Horb, A. Zorn, T. Naert, 2020, Scientific Reports.

Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc

P. Coucke, O. Vanakker, Ludovic Martin, 2020, Genetics in Medicine.

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.

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

A. Hoischen, T. Meitinger, T. Strom, 2017, American Journal of Human Genetics.

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

A. Green, E. Bongers, R. Hennekam, 2015, American journal of medical genetics. Part A.

Functional haplotypes of PADI4: relevance for rheumatoid arthritis specific synovial intracellular citrullinated proteins and anticitrullinated protein antibodies

E. Veys, P. Coucke, F. de Keyser, 2005, Annals of the rheumatic diseases.

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.

Serum Calcification Propensity T50 Associates with Disease Severity in Patients with Pseudoxanthoma Elasticum

T. D. de Backer, J. de Zaeytijd, P. Coucke, 2022, Journal of clinical medicine.

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.

New insights on the clinical variability of FKBP10 mutations.

D. Eyre, B. Callewaert, P. Coucke, 2020, European journal of medical genetics.

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation

G. Mortier, M. Abramowicz, P. Coucke, 2012, American journal of medical genetics. Part A.

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.

A comparative immunohistochemical study of cytokeratin and vimentin expression in middle ear mucosa and cholesteatoma, and in epidermis

I. Leigh, F. Ramaekers, P. Coucke, 2004, Virchows Archiv A.

Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

P. Verloo, P. Boon, B. Poppe, 2022, Orphanet Journal of Rare Diseases.

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.

Accurate quantification of homologous recombination in zebrafish: brca2 deficiency as a paradigm

A. Vral, P. Coucke, A. Willaert, 2017, Scientific Reports.

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.

Longitudinal and Cross-Sectional Phenotype Analysis in a New, Large Dutch DFNA2/KCNQ4 Family

C. Cremers, P. Coucke, G. Van Camp, 2002, The Annals of otology, rhinology, and laryngology.

The DFNA2 locus for hearing impairment: two genes regulating K+ ion recycling in the inner ear.

P. Coucke, G. Van Camp, P. Van Hauwe, 1999, British journal of audiology.

Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families.

C. Cremers, B. Oostra, J. Darby, 1994, The New England journal of medicine.

Complementary deoxyribonucleic acid cloning and characterization of a putative human axonemal dynein light chain gene.

S. Arver, S. Bhasin, P. Coucke, 1997, The Journal of clinical endocrinology and metabolism.

A quantitative histochemical study of sulphydryl and disulphide content during normal epidermal keratinization

P. Coucke, K. Cooreman, D. Broekaert, 1982, The Histochemical Journal.

Three new families with arterial tortuosity syndrome

C. Catsman-Berrevoets, H. Stroink, M. Breuning, 2004, American journal of medical genetics. Part A.

Practical Tools to Implement Massive Parallel Pyrosequencing of PCR Products in Next Generation Molecular Diagnostics

J. Vandesompele, J. Hellemans, L. Clement, 2011, PloS one.

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.

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.

Arterial Tortuosity Syndrome: an ascorbate compartmentalization disorder?

Csilla E. Németh, É. Margittai, A. Boel, 2019, Antioxidants & redox signaling.

Vascular Ehlers-Danlos syndrome in two Polish patients: identification of two novel COL3A1 gene mutations.

P. Coucke, A. Undas, S. Symoens, 2019, Kardiologia polska.

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.

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.

Glucose transporter type 10—lacking in arterial tortuosity syndrome—facilitates dehydroascorbic acid transport

T. Mészáros, G. Bánhegyi, Csilla E. Németh, 2016, FEBS letters.

Hypergastrinemia, a clue leading to the identification of an atypical form of diabetes mellitus type 2.

J. Benovic, W. Steyaert, P. Coucke, 2022, Clinica chimica acta; international journal of clinical chemistry.

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

Jason J. Corneveaux, M. Bitner-Glindzicz, G. Mortier, 2016, Human mutation.

Minocycline attenuates excessive DNA damage response and reduces ectopic calcification in pseudoxanthoma elasticum.

P. Coucke, A. Willaert, O. Vanakker, 2021, The Journal of investigative dermatology.

X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase.

E. Dams, P. Willems, P. Coucke, 1996, Human molecular genetics.

Nucleic acids enrichment of fungal pathogens to study host-pathogen interactions

M. Vaneechoutte, P. Coucke, Brecht Guillemyn, 2019, Scientific Reports.

Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

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

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.

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.

Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta

C. Cremers, I. Dhooge, P. Coucke, 2009, The Laryngoscope.

A second gene for otosclerosis, OTSC2, maps to chromosome 7q34-36.

F. E. Offeciers, F. Declau, P. Govaerts, 2001, American journal of human genetics.

Localization of a gene for otosclerosis to chromosome 15q25-q26.

P. Willems, P. Coucke, C. Srisailapathy, 1998, Human molecular genetics.

Association between bone mineral density and hearing loss in osteogenesis imperfecta

C. Cremers, I. Dhooge, S. Goemaere, 2012, The Laryngoscope.

Stapes Surgery in Osteogenesis Imperfecta: Retrospective Analysis of 34 Operated Ears

C. Cremers, I. Dhooge, P. Coucke, 2012, Audiology and Neurotology.

Audiologic Phenotype of Osteogenesis Imperfecta: Use in Clinical Differentiation

C. Cremers, I. Dhooge, P. Coucke, 2012, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

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

Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI

B. Menten, B. Heindryckx, M. Popovic, 2022, Journal of Assisted Reproduction and Genetics.

Germline nuclear transfer in mice may rescue poor embryo development associated with advanced maternal age and early embryo arrest.

B. Menten, B. Heindryckx, D. Deforce, 2020, Human reproduction.

Digital Polymerase Chain Reaction for Assessment of Mutant Mitochondrial Carry-over after Nuclear Transfer for In Vitro Fertilization.

B. Heindryckx, D. Deforce, F. van Nieuwerburgh, 2021, Clinical chemistry.

Flexible, Scalable, and Efficient Targeted Resequencing on a Benchtop Sequencer for Variant Detection in Clinical Practice

J. Vandesompele, J. Hellemans, E. Baere, 2015, Human mutation.

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.

The Abcc6a Knockout Zebrafish Model as a Novel Tool for Drug Screening for Pseudoxanthoma Elasticum

P. Coucke, A. Willaert, O. Vanakker, 2022, Frontiers in Pharmacology.

Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment

G. Richardson, W. Kimberling, P. Heyning, 1998, Nature Genetics.

The corneoscleral shape in Marfan syndrome

P. Coucke, B. Leroy, A. Consejo, 2020, Acta ophthalmologica.

Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes

T. de Ravel, H. Van Esch, I. Casteels, 2010, Human mutation.

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.

Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures

A. Rajković, G. Goeminne, F. Hanisch, 2021, PLoS genetics.

Loss of a subunit of vacuolar ATPase identifies unexpected biological signatures of reduced organelle acidification in vivo

A. Rajković, G. Goeminne, F. Hanisch, 2020 .

Spectrum of mutations in fucosidosis

P. Willems, P. Coucke, R. Tonlorenzi, 1999, European Journal of Human Genetics.

Linkage of DNA markers at Xq28 to adrenoleukodystrophy and adrenomyeloneuropathy present within the same family.

G. Dacremont, R. Wanders, R. Schutgens, 1990, Archives of neurology.

Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism

G. Mortier, L. Faivre, C. Thauvin-Robinet, 2004, 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.

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.

DNA Diagnosis of Cystic Fibrosis by Direct Detection of the Af508 Mutation.

P. Willems, P. Coucke, L. Vits, 1991, Acta clinica Belgica.

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

G Van Camp, P Van de Heyning, C. Cremers, 1999, Human molecular genetics.

Mutations in the KCNQ 4 gene are responsible for autosomal dominant deafness in four DFNA 2 families

C. Cremers, P. Heyning, S. Bhasin, 1999 .

The gene for Pendred syndrome is located between D7S501 and D7S692 in a 1.7-cM region on chromosome 7q.

C. Cremers, A. Parving, P. Willems, 1997, Genomics.

CRASH Syndrome: Clinical Spectrum of Corpus Callosum Hypoplasia, Retardation, Adducted Thumbs, Spastic Paraparesis and Hydrocephalus Due to Mutations in One Single Gene, L1

Vance Lemmon, Paul Coucke, Erik Fransen, 1995, European journal of human genetics : EJHG.

Future perspectives of genome-scale sequencing

B. Poppe, D. Hemelsoet, W. Steyaert, 2018, Acta clinica Belgica.

E. Tobias, G. Mortier, T. Iwaya, 2007, American journal of medical genetics. Part A.

Identification of a new connexin gene GJA11 (Cx59) using degenerate PCR primers

P. Willems, P. Coucke, P. M. Kelley, 2000 .

A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome

B. Menten, D. De Wolf, B. Callewaert, 2021, Genes.

Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment.

F. E. Offeciers, G. Richardson, P. Govaerts, 1998, Nature genetics.

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.

A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.

Y. Ninomiya, P. Coucke, G. Van Camp, 1999, American journal of human genetics.

Refined Mapping of a Gene for Autosomal Dominant Progressive Sensorineural Hearing Loss (DFNA5) to a 2-cM Region, and Exclusion of a Candidate Gene That Is Expressed in the Cochlea

E. Green, P. Van de Heyning, P. Willems, 1997, European journal of human genetics : EJHG.

Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15.

R. Frants, P. Willems, D. van Velzen, 1995, Human molecular genetics.

Genetic study of non‐syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case‐series

A. Saâd, P. Coucke, P. D. De Coster, 2018, European journal of oral sciences.

Comparative analysis of mouse and human preimplantation development following POU5F1 CRISPR/Cas9 targeting reveals interspecies differences.

B. Menten, B. Heindryckx, F. van Nieuwerburgh, 2021, Human reproduction.

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 .

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR‐based approach and next generation sequencing

M. Bitner-Glindzicz, M. Huentelman, J. Corneveaux, 2013, American journal of medical genetics. Part A.

GLUT10—Lacking in Arterial Tortuosity Syndrome—Is Localized to the Endoplasmic Reticulum of Human Fibroblasts

G. Bánhegyi, A. Szarka, Csilla E. Németh, 2017, International journal of molecular sciences.

Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines

D. Hemelsoet, J. de Zaeytijd, P. Coucke, 2021, Journal of Medical Genetics.

An investigation of cytokeratin expression in skin epithelial cysts and some uncommon types of cystic tumours using chain-specific antibodies

E. Lane, I. Leigh, F. Ramaekers, 2004, Archives of Dermatological Research.

Immunohistochemical Analysis of the Cytokeratin Expression in Middle Ear Cholesteatoma and Related Epithelial Tissues

Paul Coucke, I. Leigh, F. Ramaekers, 1992, The Annals of otology, rhinology, and laryngology.

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

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

Differentiation of nuclei during keratinization in middle ear cholesteatoma. DNA cytophotometry completed by computerized image analysis.

P Van Oostveldt, P. van Oostveldt, P. Coucke, 1988, Acta oto-laryngologica.

Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform

J. Vandesompele, J. Hellemans, D. Deforce, 2012, BMC Medical Genomics.

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.

A common founder for the 35delG GJB2gene mutation in connexin 26 hearing impairment

G. Taylor, E. Fransen, P. Coucke, 2001, Journal of medical genetics.

Zebrafish: A Resourceful Vertebrate Model to Investigate Skeletal Disorders

P. Coucke, A. Willaert, P. Salmon, 2020, Frontiers in Endocrinology.

Further research on solubilization of cholesteatoma keratins.

P. Coucke, D. Broekaert, P. Kluyskens, 1981, Acta oto-laryngologica.

The Genetics of Soft Connective Tissue Disorders.

B. Callewaert, P. Coucke, O. Vanakker, 2015, Annual review of genomics and human genetics.

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.

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

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

Keratinization of middle ear cholesteatomas

P. Coucke, J. Marquet, D. Broekaert, 1990, European Archives of Oto-Rhino-Laryngology.

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1.

S. Mundlos, C. Ott, U. Kornak, 2014, Molecular genetics and metabolism.

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.

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.

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.

Characterization of a novel mutation in PAX9 gene in a family with non-syndromic dental agenesis.

A. Saâd, P. Coucke, P. D. De Coster, 2016, Archives of oral biology.

K+-Channel Gene KCNQ4

P. Willems, P. Coucke, 2003 .

Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p.

C. Cremers, F. Declau, P. Willems, 1997, Genomics.

Phenomics-Based Quantification of CRISPR-Induced Mosaicism in Zebrafish.

Ronald Y. Kwon, Y. Hsu, P. Coucke, 2020, Cell systems.

Decoding G0 somatic mutants through deep phenotyping and mosaic pattern analysis in the zebrafish skeleton

Ronald Y. Kwon, Y. Hsu, P. Coucke, 2018 .

Deep Phenotyping Enhances Somatic Mutant Detection and Mosaic Pattern Recognition in the Zebrafish Skeleton

Ronald Y. Kwon, Y. Hsu, P. Coucke, 2018, bioRxiv.

High myopia and vitreal veils in a patient with Poretti– Boltshauser syndrome due to a novel homozygous LAMA1 mutation

I. Casteels, M. De Bruyne, P. Coucke, 2022, Ophthalmic genetics.

Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?

S. Janssens, W. Wuyts, P. Coucke, 2022, Genes.

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.

Deafness linked to DFNA2: one locus but how many genes?

C. Cremers, P. Heyning, F. Declau, 1999, Nature Genetics.

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.

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.

Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc

P. Coucke, O. Vanakker, P. Nevalainen, 2020, Genetics in Medicine.

An immunohistochemical and histochemical study of cytokeratin, involucrin and transglutaminase in seborrhoeic keratosis

E. Lane, I. Leigh, F. Ramaekers, 2004, Archives of Dermatological Research.

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.

MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM

Golder N Wilson, A. Poustka, B. Korn, 1994, Nature Genetics.

A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3

S. Mehta, J. Roos‐Hesselink, M. Kempers, 2018, Human mutation.

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.

Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease.

E. Dams, P. Willems, P. Coucke, 1995, Human molecular genetics.

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.

Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype

P. Coucke, O. Vanakker, M. Van Gils, 2023, Journal of clinical medicine.

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.

Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP

J. Shendure, D. Nickerson, S. Leal, 2016, BMC Medical Genetics.

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.

Radiological sacroiliitis, a hallmark of spondylitis, is linked with CARD15 gene polymorphisms in patients with Crohn’s disease

D. Laukens, M. Vos, E. Remaut, 2004, Annals of the rheumatic diseases.

A Dutch family with progressive sensorineural hearing impairment linked to the DFNA2 region

C. Cremers, P. Coucke, G. Van Camp, 2000, European Archives of Oto-Rhino-Laryngology.

Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2.

C. Cremers, P. Willems, P. Coucke, 1997, Archives of otolaryngology--head & neck surgery.

A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment

C. Cremers, E. Fransen, P. Coucke, 2002, Human mutation.

A duplication in the L1CAM gene associated with X–linked hydrocephalus

A. Munnich, J. Darby, S. Lyonnet, 1993, Nature Genetics.

Further localization of X-linked hydrocephalus in the chromosomal region Xq28.

S. Warren, C. Broeckhoven, B. Wittwer, 1992, American journal of human genetics.

Assignment of X-linked hydrocephalus to Xq28 by linkage analysis.

S. Warren, C. van Broeckhoven, G. Consalez, 1990, Genomics.

An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6.

Shelley D. Smith, P. Coucke, C. Srisailapathy, 1995, Genome research.

Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2).

R. Berger, J. Smeitink, P. Coucke, 1994, Genomics.

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.

CRISPR-SID: Identifying EZH2 as a druggable target for desmoid tumors via in vivo dependency mapping

B. Alman, M. van de Rijn, C. Vanhove, 2019, Proceedings of the National Academy of Sciences.

A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.

Ron A Wevers, Eva Morava, Paul Coucke, 2005, Biochimica et biophysica acta.

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.

Defective protein glycosylation in patients with cutis laxa syndrome

R. Wevers, J. Smeitink, S. Wopereis, 2005, European Journal of Human Genetics.

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.

Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31.

M. Lovett, P. Coucke, C. Srisailapathy, 1998, American journal of medical genetics.

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.

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.

b3galt6 Knock-Out Zebrafish Recapitulate β3GalT6-Deficiency Disorders in Human and Reveal a Trisaccharide Proteoglycan Linkage Region

G. Larson, P. Coucke, A. Willaert, 2020, bioRxiv.

1 b 3 galt 6 knock-out zebrafish recapitulate β 3 GalT 6-deficiency disorders in 1 human and reveal a trisaccharide proteoglycan linkage region 2

G. Larson, P. Coucke, A. Willaert, 2020 .

Arterial tortuosity syndrome: case report.

P. Coucke, L. Maldergem, L. Van Maldergem, 2012, Genetic counseling.

Arterial tortuosity syndrome: 40 new families and literature review

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

Stickler syndrome: comprehensive clinical and molecular analysis

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

Identification of von Willebrand disease type 1 in a patient with Ehlers–Danlos syndrome classic type

P. Coucke, M. Spannagl, A. Paepe, 2016, Haemophilia : the official journal of the World Federation of Hemophilia.

Nonsyndromic Autosornal Dominant Progressive Sensorineural Hearing

C. Cremers, P. Willems, P. Coucke, 2009 .

A clinical scoring system for congenital contractural arachnodactyly

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

Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.

J. Hellemans, G. Haegeman, D. Beysen, 2007, American journal of human genetics.

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families

D. Nickerson, S. Leal, M. Bamshad, 2017, International journal of dermatology.

Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family.

A. Munnich, A. Rosenthal, S. Kenwrick, 1994, Human molecular genetics.

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.

Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy.

P. Coucke, S. Larsson, A. Kindmark, 2018, Bone.

A mild form of Stickler syndrome type II caused by mosaicism of COL11A1.

P. Coucke, D. Larsen, D. Lildballe, 2017, European Journal of Medical Genetics.

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.

Assisted oocyte activation does not overcome recurrent embryo developmental problems.

B. Heindryckx, P. De Sutter, L. Leybaert, 2023, Human reproduction.

Rare Modifier Variants Alter the Severity of Cardiovascular Disease in Pseudoxanthoma Elasticum: Identification of Novel Candidate Modifier Genes and Disease Pathways Through Mixture of Effects Analysis

G. Leftheriotis, F. van Nieuwerburgh, P. Coucke, 2021, Frontiers in Cell and Developmental Biology.

Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects.

C. Vanhove, J. Essers, D. Reinhardt, 2020, Human molecular genetics.

SLC2A knockout mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects

C. Vanhove, J. Essers, D. Reinhardt, 2019, bioRxiv.

Zebrafish Tric-b is required for skeletal development and bone cells differentiation

R. Gioia, P. Witten, B. Busse, 2023, Frontiers in Endocrinology.

Cell differentiation and matrix organization are differentially affected during bone formation in osteogenesis imperfecta zebrafish models with different genetic defects impacting collagen type I structure.

M. Biggiogera, P. Coucke, A. Willaert, 2023, Matrix biology : journal of the International Society for Matrix Biology.

Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22.

R. Berger, C. van Broeckhoven, P. Willems, 1991, Genomics.

Quantitative determination of free thiol and disulphide groups by a fluorescent maleimide procedure.

P. van Oostveldt, P. Coucke, D. Broekaert, 1982, Acta histochemica.

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.

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

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

Two brothers with mental retardation discordant for the fragile-X syndrome.

B. Ceulemans, P. Willems, P. Coucke, 1990, American journal of medical genetics.

Molecular study of chromosome 15 in 22 patients with Angelman syndrome

C. Broeckhoven, J. Beuten, R. Hennekam, 2004, Human Genetics.

Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome.

P. Coucke, A. Willaert, F. Malfait, 2019, Matrix biology : journal of the International Society for Matrix Biology.

The gene for human gap junction protein connexin37 (GJA4) maps to chromosome 1p35.1, in the vicinity of D1S195.

F. Speleman, N. Van Roy, P. Willems, 1995, Genomics.

O-216 CRISPR/Cas9 mediated knock-out (KO) reveals a divergent role for trophectoderm markers GATA2/3 in the mouse and human preimplantation embryo

B. Menten, B. Heindryckx, S. M. Chuva de Sousa Lopes, 2022, Human Reproduction.

Analysing 454 amplicon resequencing experiments using the modular and database oriented Variant Identification Pipeline

Jo Vandesompele, Dieter Deforce, Sofie Bekaert, 2010, BMC Bioinformatics.

Frequency of the phenylalanine deletion (ΔF508) in the CF gene of Belgian cystic fibrosis patients

P. Willems, P. Coucke, L. Vits, 1991, Clinical genetics.

Arterial tortuosity syndrome: 40 new families and literature review

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

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.

Review Hearing loss in Waardenburg syndrome: a systematic review

Y. Feng, P. Coucke, F. Acke, 2021 .

Lrp5 Mutant and Crispant Zebrafish Faithfully Model Human Osteoporosis, Establishing the Zebrafish as a Platform for CRISPR‐Based Functional Screening of Osteoporosis Candidate Genes

C. Shochat, D. Karasik, A. Boel, 2021, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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 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.

A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract

F. van Nieuwerburgh, P. Coucke, A. Willaert, 2023, Human Genetics.

Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome

W. Ahmad, W. Steyaert, P. Coucke, 2016, Clinical 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.

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.

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

K. Claes, W. Steyaert, P. Coucke, 2015, Disease markers.

Illumina sequencing of 15 deafness genes using fragmented amplicons

J. Vandesompele, D. Deforce, F. van Nieuwerburgh, 2014, BMC Research Notes.

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

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

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.

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.

Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model.

P. Coucke, O. Vanakker, Shana Verschuere, 2021, Journal of genetics and genomics = Yi chuan xue bao.

Nuclear differentiation and ultimate fate during epidermal keratinization

P. Oostveldt, P. Coucke, D. Broekaert, 1986, Archives of Dermatological Research.

A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p.Ile2585Thr) variation.

B. Loeys, P. Coucke, M. Perik, 2023, Stem cell research.