Research Explorer

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Researcher

Paul Coucke

Publications & Research Data

Awards & Distinctions

373 Results

2025

Evaluating variants of uncertain significance in adult knock-in zebrafish : a proof of concept with a COL1A2 variant

Michiel VanhooydonckSophie DebaenstEva VanbelleghemHanna De SaffelDelfien SyxPatrick SipsPaul CouckeAndy WillaertBert Callewaert

Revisiting the molecular basis for ectopic mineralization, using pseudoxanthoma elasticum as a model

Shana VerschuereOlivier VanakkerPaul Coucke

RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease

Maxim VerleeErika D'haenensLaurenz De CockLaura Muiño MosqueraKatya De GrooteKristof VandekerckhoveJoseph PanzerEllen RoetsBjörn MentenSofie Symoens et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

The importance of being earnest : putting molecular analysis for the diagnosis of pseudoxanthoma elasticum in perspective

Shana VerschuereSofie SymoensDelfien SyxPaul CouckeOlivier Vanakker

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

Variant of uncertain significance testing in zebrafish : a proof of concept using a COL1A2 variant as example

Michiel VanhooydonckSophie DebaenstEva VanbelleghemHanna De SaffelDelfien SyxAndy WillaertPatrick SipsPaul CouckeBert Callewaert

Zebrafish in bone research : a deep dive into fragile bone disorders

Sophie DebaenstPaul CouckeAndy Willaert

2024

Accepting or declining preconception expanded carrier screening : an exploratory study with 407 couples

Ariane Van TongerlooHannah VerdinWouter SteyaertPaul CouckeSandra Janssens

A1 Journal Article in JOURNAL OF GENETIC COUNSELING

An exploration of alternative therapeutic targets for aortic disease in Marfan syndrome

Lotte Van Den HeuvelSilke PeetersJosephina MeesterPaul CouckeBart Loeys

A1 Journal Article in DRUG DISCOVERY TODAY

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model

Tamara JaraysehSophie DebaenstHanna De SaffelToon RosseelMauro Alessio MilazzoJan Willem BekDavid M HudsonFilip Van NieuwerburghYannick GansemansIván Josipovic et al.

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for bone fragility

Sophie DebaenstTamara JaraysehHanna De SaffelJan Willem BekMatthieu BooneIván JosipovicPierre KibleurRonald Y KwonPaul CouckeAndy Willaert

A2 Journal Article in ELIFE

Generation of a human induced pluripotent stem cell line UGENTi002-A from an arrhythmogenic cardiomyopathy patient carrying the c.817C>T DSP heterozygous variant and isogenic control using CRISPR/Cas9 editing

Laurens LégerJeffrey AaldersNina HeymansKiara Van Acker-VerbercktLéa De BleeckerePaul CouckeBjörn MentenBarbara BauceLibero VitielloAlessandra Rampazzo et al.

A1 Journal Article in STEM CELL RESEARCH

Gonadal mosaicism as a rare inheritance pattern in recessive genodermatoses : report of two cases with pseudoxanthoma elasticum and literature review

Lisa DangreauMohammad Jakir HosenJulie De ZaeytijdBart LeroyPaul CouckeOlivier Vanakker

A1 Journal Article in CURRENT ISSUES IN MOLECULAR BIOLOGY

High rate of detected variants in male PLCZ1 and ACTL7A genes causing failed fertilization after ICSI

Arantxa Cardona BarberánRamesh Reddy GuggillaCora ColenbierEmma Van der VeldenAndrei RybouchkinDominic StoopLuc LeybaertPaul CouckeSofie SymoensAnnekatrien Boel et al.

A1 Journal Article in HUMAN REPRODUCTION OPEN

Preconceptionele uitgebreide dragerschapsscreening : een genetische test voor koppels met een kinderwens

Ariane Van TongerlooHannah VerdinB. BlaumeiserL. PolsterPaul CouckeSandra Janssens

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Unraveling phenotypic variability and disease manifestations in brittle bone disorders

Tamara JaraysehPaul CouckeAndy Willaert

2023

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

Tamara JaraysehBrecht GuillemynHanna De SaffelJan Willem BekDelfien SyxSofie SymoensYannick GansemansFilip Van NieuwerburghSujatha JagadeeshJayarekha Raja et al.

A1 Journal Article in HUMAN GENETICS

Assisted oocyte activation does not overcome recurrent embryo developmental problems

Arantxa Cardona BarberánDavina BonteAnnekatrien BoelVanessa ThysRuth ParedisFemke MachtelinckxPetra De SutterIlse De CrooLuc LeybaertDominic Stoop et al.

A1 Journal Article in HUMAN REPRODUCTION

Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for Osteogenesis Imperfecta

Sophie DebaenstHanna De SaffelJan Willem BekAdelbert De ClercqTamara JaraysehLauren SahdPaul CouckeAndy Willaert

Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing

Jeffrey AaldersLaurens LégerAnthony DemolderLaura Muiño MosqueraPaul CouckeBjörn MentenJulie De BackerJolanda van Hengel

A1 Journal Article in STEM CELL RESEARCH

Identification of modifier genes underlying intra-familial phenotypic variability in zebrafish OI models using whole exome sequencing and linkage analysis

Tamara JaraysehAdelbert De ClercqToon RosseelMauro Alessio MilazzoAndy WillaertPaul Coucke

Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum patients and heterozygous carriers but do not correlate with the genotype or phenotype

Matthias Van GilsJustin DepauwPaul CouckeShari AertsShana VerschuereLukas NolletOlivier Vanakker

A1 Journal Article in JOURNAL OF CLINICAL MEDICINE

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

Nika SchuermansSalima El ChehadehDimitri HemelsoetJérémie GautheronMarie-Christine VantyghemSonia NouiouaMeriem TazirCorinne VigourouxMartine AuclairElke Bogaert et al.

A1 Journal Article in NATURE GENETICS

Monogenic and digenic variants in male PLCZ1, ACTL7A and ACTL9 genes cause fertilization failure after ICSI

Arantxa Cardona BarberánAnnekatrien BoelCora ColenbierEmma Van der VeldenDominic StoopPaul CouckeFrauke Vanden MeerschautBjörn Heindryckx

Negative molecular diagnostics in non-syndromic hearing loss : what next?

Thomas ClaboutLaurence MaesFrederic AckeWim WuytsKristof Van SchilPaul CouckeSandra JanssensEls De Leenheer

A1 Journal Article in GENES

Reliability of blastomere versus trophectoderm biopsy in preimplantation genetic testing for mitochondrial DNA disorders

Noemi CastelluccioRamesh Reddy GuggillaAndrei RybouchkinDominic StoopSofie SymoensPaul CouckeAnnekatrien BoelBjörn Heindryckx

Retained chromosomal integrity following CRISPR-Cas9-based mutational correction in human embryos

Bieke BekaertAnnekatrien BoelLisa De WitteWinter VandenbergheMina PopovicPanagiotis StamatiadisGwenny CosemansLise TordeursAthina-Maria De LooreSusana Marina Chuva de Sousa Lopes et al.

A1 Journal Article in MOLECULAR THERAPY

Serum calcification propensity T50 associates with disease severity in patients with pseudoxanthoma elasticum

Lukas NolletMatthias Van GilsSuzanne FischerLaurence CampensSwapna KarthikAndreas PaschJulie De ZaeytijdBart LeroyDaniel DevosTine De Backer et al.

Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development

Brecht GuillemynHanna De SaffelJan Willem BekPiyanoot TapaneeyaphanAdelbert De ClercqTamara JaraysehSophie DebaenstAndy WillaertRiet De RyckePeter H. Byers et al.

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

Syntaxin-18 defects in human and zebrafish cause traffic jams and unravel key roles in early bone development

Brecht GuillemynHanna De SaffelJan Willem BekPiyanoot TapaneeyaphanAdelbert De ClercqTamara JaraysehSophie DebaenstAndy WillaertPeter ByersPaul Coucke et al.

The Abcc6a knockout zebrafish model as a novel tool for drug screening for pseudoxanthoma elasticum

Matthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

The pseudoxanthoma elasticum zebrafish model contributes to novel pathophysiological insights and therapeutic strategies in ectopic mineralization

Lisa DangreauLukas NolletMatthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

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

Francesca TonelliLaura LeoniValentina DaponteRoberta GioiaSilvia CottiImke A. K. FiedlerDaria LarionovaAndy WillaertPaul CouckeSimona Villani et al.

A1 Journal Article in FRONTIERS IN ENDOCRINOLOGY

2022

A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract

Tamara JaraysehBrecht GuillemynHanna De SaffelJan Willem BekSujatha JagadeeshSofie SymoensFransiska MalfaitDelfien SyxFilip Van NieuwerburghYannick Gansemans et al.

Attenuation of dysfunctional DNA damage response and PARP1 signaling by minocycline reduces ectopic calcification in pseudoxanthoma elasticum

Lukas NolletMatthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

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

Lukas NolletLaurence CampensJulie De ZaeytijdBart LeroyDimitri HemelsoetPaul CouckeOlivier Vanakker

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Crispant screening in zebrafish as a promising approach for rapid functional screening of osteoporosis candidate genes and known genes for Osteogenesis Imperfecta

Sophie DebaenstHanna De SaffelJan Willem BekAdelbert De ClercqTamara JaraysehLauren SahdPaul CouckeAndy Willaert

Distinct genetic impact of CRISPR/Cas9 gene correction in human embryos compared to induced pluripotent stem cells

Bieke BekaertAnnekatrien BoelLisa De WitteGwenny CosemansLise TordeursAthina-Maria De LooreSusana Marina Chuva de Sousa LopesPetra De SutterDominic StoopPaul Coucke et al.

Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA

Ilse MeerschautWouter SteyaertThierry BovéKatrien FrancoisThomas MartensKatya De GrooteHans De WildeLaura Muiño MosqueraJoseph PanzerKristof Vandekerckhove et al.

A1 Journal Article in GENES

Four novel families expand the genotypic and phenotypic landscape of MESD-related Osteogenesis Imperfecta

Thao Tran Thao TranRachel KellerBrecht GuillemynMelanie PepinJane CortevilleSamir KhatibMohammad-Sadegh FallahSirous ZeinaliFransiska MalfaitSofie Symoens et al.

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

Matthew J. VarneyWouter SteyaertPaul CouckeJoris DelangheDavid E. UehlingBabu JosephRichard MarcellusRima Al-awarJeffrey L. Benovic

A1 Journal Article in JOURNAL OF BIOLOGICAL CHEMISTRY

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

Nawid FaiziIngele CasteelsBruno TermotePaul CouckeElfride De BaereMarieke De BruyneIrina Balikova

A1 Journal Article in OPHTHALMIC GENETICS

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

Maoxing TangAnnekatrien BoelNoemi CastelluccioArantxa Cardona BarberánAntonia ChristodoulakiBieke BekaertMina PopovicFrauke Vanden MeerschautPetra De SutterBjörn Menten et al.

A1 Journal Article in JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

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

Wouter SteyaertMatthew J. VarneyJeffrey L. BenovicJohn CreemersMarijn SpeeckaertPaul CouckeJoris Delanghe

A1 Journal Article in CLINICA CHIMICA ACTA

Identifying and characterizing EZH2 as a druggable dependency factor for desmoid tumors in a genetic Xenopus tropicalis model for Gardner's Syndrome

Thomas NaertDieter TulkensTom Van NieuwenhuysenJoanna PrzybylSuzan DemuynckMushriq Al-JazraweMatt van de RijnBenjamin AlmanKim De LeenheerPaul Coucke et al.

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

Lukas NolletMatthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

Serum calcification propensity T50 associates with disease severity in patients with pseudoxanthoma elasticum

Lukas NolletMatthias Van GilsSuzanne FischerLaurence CampensSwapna KarthikAndreas PaschJulie De ZaeytijdBart LeroyDaniel DevosTine De Backer et al.

A1 Journal Article in JOURNAL OF CLINICAL MEDICINE

Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

Nika SchuermansDimitri HemelsoetWim TerrynSanne SteyaertRudy Van CosterPaul CouckeWouter SteyaertBert CallewaertElke BogaertPATRICK VERLOO et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

TEAD4 regulates trophectoderm differentiation upstream of CDX2 in a GATA3-independent manner in the human preimplantation embryo

Panagiotis StamatiadisGwenny CosemansAnnekatrien BoelBjörn MentenPetra De SutterDominic StoopSusana Marina Chuva de Sousa LopesFrederic LluisPaul CouckeBjörn Heindryckx

A1 Journal Article in HUMAN REPRODUCTION

The Abcc6a knockout zebrafish model as a novel tool for drug screening for pseudoxanthoma elasticum

Matthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

A1 Journal Article in FRONTIERS IN PHARMACOLOGY

The pseudoxanthoma elasticum zebrafish model contributes to novel pathophysiological insights and therapeutic strategies in ectopic mineralization

Lisa DangreauLukas NolletMatthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

2021

A reassessment of copy number variations in congenital heart defects : picturing the whole genome

Ilse MeerschautSarah VergultAnnelies DheedeneBjörn MentenKatya De GrooteHans De WildeLaura Muiño MosqueraJoseph PanzerKristof VandekerckhovePaul Coucke et al.

A1 Journal Article in GENES

Arterial tortuosity syndrome : an ascorbate compartmentalization disorder?

Annekatrien BoelKrisztina VeszelyiCsilla E. NemethAude BeyensAndy WillaertPaul CouckeBert CallewaertEva Margittai

A1 Journal Article in ANTIOXIDANTS & REDOX SIGNALING

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

Thao T. TranRachel B. KellerBrecht GuillemynMelanie PepinJane E. CortevilleSamir KhatibMohammad-Sadegh FallahSirous ZeinaliFransiska MalfaitSofie Symoens et al.

A2 Journal Article in HUMAN GENETICS AND GENOMICS ADVANCES

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

Panagiotis StamatiadisAnnekatrien BoelGwenny CosemansMina PopovicBieke BekaertRamesh Reddy GuggillaMaoxing TangPetra De SutterFilip Van NieuwerburghBjörn Menten et al.

A1 Journal Article in HUMAN REPRODUCTION

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

Wouter SteyaertShana VerschuerePaul CouckeOlivier Vanakker

A1 Journal Article in JOURNAL OF GENETICS AND GENOMICS

Correcting a PLCζ mutation in the human germ line to overcome hereditary infertility

Bieke BekaertAnnekatrien BoelMina PopovicPanagiotis StamatiadisS M Chuva de Sousa LopesPetra De SutterBjörn MentenDominic StoopPaul CouckeBjörn Heindryckx

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

Thomas NaertDieter TulkensTom Van NieuwenhuysenJoanna PrzybylSuzan DemuynckMatt van de RijnMushriq Al-JazraweBenjamin A. AlmanPaul CouckeKim De Leeneer et al.

A1 Journal Article in PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Digital polymerase chain reaction for assessment of mutant mitochondrial carry-over after nuclear transfer for in vitro fertilization

Olivier TytgatMaoxing TangWillem van SnippenbergAnnekatrien BoelRamesh Reddy GuggillaYannick GansemansMichiel Van HerpSofie SymoensWim TrypsteenDieter Deforce et al.

A1 Journal Article in CLINICAL CHEMISTRY

Digital polymerase chain reaction for assessment of mutant mitochondrial carry-over after nuclear transfer for In Vitro fertilization

Olivier TytgatMX TangWillem van SnippenbergAnnekatrien BoelRR GuggillaYannick GansemansMichiel Van HerpSofie SymoensWim TrypsteenDieter Deforce et al.

A1 Journal Article in CLINICAL CHEMISTRY

G protein-coupled receptor kinase 6 (GRK6) regulation of insulin processing and secretion

Matthew VarneyWouter SteyaertPaul CouckeJoris DelangheJeffrey Benovic

Identification of skeletal deformities towards deep phenotyping of zebrafish (Danio rerio) connective tissue disease models

Caitlin DebaeneAdelbert De ClercqAndy WillaertPaul Coucke

Inorganic pyrophosphate plasma levels are decreased in pseudoxanthoma elasticum (PXE) patients and carriers, and correlate with the severity of the vascular phenotype

Matthias Van GilsJustin DepauwPaul CouckeShana VerschuereLukas NolletOlivier Vanakker

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

Lore PottieWouter Van GoolMichiel VanhooydonckFranz-Georg HanischGeert GoeminneAndreja RajkovicPaul CouckePatrick SipsBert Callewaert

A1 Journal Article in PLOS GENETICS

Lrp5 mutant and crispant zebrafish faithfully model human osteoporosis, establishing the zebrafish as a platform for CRISPR‐based functional screening of osteoporosis candidate genes

Jan Willem BekChen ShochatAdelbert De ClercqHanna De SaffelAnnekatrien BoelJuriaan MetzFrans RodenburgDavid KarasikAndy WillaertPaul Coucke

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

Photoconvertible fluorescent proteins : a versatile tool in zebrafish skeletal imaging

Jan Willem BekAdelbert De ClercqHanna De SaffelMieke SoenensAnn HuysseunePaul Eckhard WittenPaul CouckeAndy Willaert

A1 Journal Article in JOURNAL OF FISH BIOLOGY

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

Eva De VilderLudovic MartinGeorges LefthériotisPaul CouckeFilip Van NieuwerburghOlivier Vanakker

A1 Journal Article in FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY

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

Shana VerschuereNastassia NavassiolavaLudovic MartinPasi I. NevalainenPaul CouckeOlivier Vanakker

A1 Journal Article in GENETICS IN MEDICINE

The corneoscleral shape in Marfan syndrome

Eva VanhonsebrouckAlejandra ConsejoPaul CouckeBart LeroyElke O. Kreps

A1 Journal Article in ACTA OPHTHALMOLOGICA

The ZE-Tunnel : an affordable, easy-to-assemble, and user-friendly benchtop zebrafish swim tunnel

Jan Willem BekAdelbert De ClercqPaul CouckeAndy Willaert

A1 Journal Article in ZEBRAFISH

The zebrafish in biomedical research : a vertebrate model to study skeletal disorders

Jan Willem BekPaul CouckeAndy Willaert

2020

A clinical scoring system for congenital contractural arachnodactyly

Ilse MeerschautShana De ConinckWouter SteyaertAngela BarnicoatAllan BayatFrancesco BenedicentiSiren BerlandEdward M. BlairJeroen BreckpotAnna de Burca et al.

A1 Journal Article in GENETICS IN MEDICINE

A proof-of-concept study to investigate DNA repair mechanisms in the human embryo after the application of CRISPR/Cas9 gene editing in the germ line

Bieke BekaertAnnekatrien BoelLisa De WitteMina PopovicRamesh Reddy GuggillaSwati MishraGwenny CosemansLise TordeursSusana Marina Chuva de Sousa LopesPetra De Sutter et al.

Assessment of molecular determinants underlying recurrent embryo developmental arrest and value of assisted oocyte activation as a treatment option

Annekatrien BoelDavina BonteArantxa Cardona BarberánVanessa ThysDominic StoopPetra De SutterPaul CouckeFrauke Vanden MeerschautBjörn Heindryckx

b3galt6 knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region

Sarah DelbaereAdelbert De ClercqShuji MizumotoFredrik NobornJan Willem BekLien AlluynCharlotte GistelinckDelfien SyxPhil L. SalmonPaul Coucke et al.

b3galt6 Knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region

Sarah DelbaereAdelbert De ClercqShuji MizumotoFredrik NobornJan Willem BekLien AlluynCharlotte GistelinckDelfien SyxPhil L. SalmonPaul Coucke et al.

A1 Journal Article in FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY

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

Maoxing TangMina PopovicPanagiotis StamatiadisMargot Van der JeughtRudy Van CosterDieter DeforcePetra De SutterPaul CouckeBjörn MentenDominic Stoop et al.

A1 Journal Article in HUMAN REPRODUCTION

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

Sarah DelbaereTim Van DammeDelfien SyxSofie SymoensPaul CouckeAndy WillaertFransiska Malfait

A1 Journal Article in MATRIX BIOLOGY

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

Thomas NaertDieter TulkensNicole A. EdwardsMarjolein CarronNikko-Ideen ShaidaniMarcin WlizlaAnnekatrien BoelSuzan DemuynckMarko E. HorbPaul Coucke et al.

A1 Journal Article in SCIENTIFIC REPORTS

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)

Tim Van DammeThatjana GardeitchikMiski MohamedSergio Guerrero-CastilloPeter FreisingerBrecht GuillemynAriana KariminejadDaisy DalloyauxSanne van KraaijDirk J. Lefeber et al.

New insights on the clinical variability of FKBP10 mutations

Osama EssawiPiyanoot TapaneeyaphanSofie SymoensCharlotte GistelinckFransiska MalfaitDavid EyreTamer EssawiBert CallewaertPaul Coucke

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Phenomics-based quantification of CRISPR-induced mosaicism in zebrafish

Claire J. WatsonAdrian T. Monstad-RiosRehaan M. BhimaniCharlotte GistelinckAndy WillaertPaul CouckeYi-Hsiang HsuRonald Y. Kwon

A1 Journal Article in CELL SYSTEMS

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

Annekatrien BoelJoyce BurgerMarine VanhomwegenAude BeyensMarjolijn RenardSander BarnhoornChristophe CasteleynDieter ReinhardtBenedicte DescampsChristian Vanhove et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

VEGFA variants as prognostic markers for the retinopathy in pseudoxanthoma elasticum

Eva De VilderMohammad Jakir HosenLudovic MartinJulie De ZaeytijdBart LeroyJean-Marc EbranPaul CouckeAnne De PaepeOlivier Vanakker

A1 Journal Article in CLINICAL GENETICS

Zebrafish : a resourceful vertebrate model to investigate skeletal disorders

Francesca TonelliJan Willem BekRoberta BesioAdelbert De ClercqLaura LeoniPhil SalmonPaul CouckeAndy WillaertAntonella Forlino

A1 Journal Article in FRONTIERS IN ENDOCRINOLOGY

2019

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

Brecht GuillemynHülya KayseriliLynn DemuynckPatrick SipsAnne De PaepeDelfien SyxPaul CouckeFransiska MalfaitSofie Symoens

A1 Journal Article in HUMAN MOLECULAR GENETICS

Animal disease modeling of the arterial tortuosity syndrome : advancing the CRISPR/Cas9 system for improved genome editing

Annekatrien BoelPaul CouckeAndy Willaert

Arterial tortuosity syndrome : 40 new families and literature review (vol 20, pg 1236, 2017)

Aude BeyensJuliette AlbuissonAnnekatrien BoelMazen Al-EssaWaheed Al-ManeaDamien BonnetOzlem BostanOdile BouteTiffany BusaNathalie Canham et al.

Compound screening for PXE using a zebrafish abcc6a CRISPR/Cas9 mutant model : a proof-of-concept study

Matthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

Compound screening for PXE using zebrafish abcc6a mutant models

Matthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

Compound screening for PXE using zebrafish abcc6a mutant models

Matthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

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

Shana VerschuerePaul CouckeOlivier Vanakker

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

Shana VerschuerePaul CouckeOlivier Vanakker

Decreased nuclear ascorbate accumulation accompanied with altered genomic methylation pattern in fibroblasts from arterial tortuosity syndrome patients

Csilla NémethZsófia NemodaPéter LőwPál SzabóErzsébet HorváthAndy WillaertAnnekatrien BoelBert CallewaertPaul CouckeMarina Colombi et al.

A1 Journal Article in OXIDATIVE MEDICINE AND CELLULAR LONGEVITY

Generation and validation of the first complete knockout model of abcc6a in zebrafish

Matthias Van GilsAndy WillaertEva De VilderPaul CouckeOlivier Vanakker

Genetic analysis in consanguineous families from Palestine : a focus on cystic fibrosis and osteogenesis imperfecta

Osama EssawiPaul CouckeBert CallewaertTamer Essawi

Genetic investigation of a rare form of severe tooth agenesis : Anodontia

M. Haddaji MastouriPeter De CosterN. Ben SalahA. TouatiI. VeereckeA. ZaghabaniA. SaadD. H'mida-Ben BrahimPaul Coucke

In-depth characterization of the ultrastructural variability of the vertebral column in a severe, medium and mildly affected Osteogenesis Imperfecta zebrafish model

Adelbert De ClercqHanna De SaffelJan Willem BekMyriam ClaeysPetra VermassenPaul CouckeAndy Willaert

Knock-out of atp6v1e1b in zebrafish faithfully recapitulates the human cutis laxa syndrome and highlights the endosomal pathway in disease pathogenesis

Lore PottiePatrick SipsBert CallewaertPetra VermassenHanna De SaffelPaul Coucke

Knock-out of atp6v1e1b in zebrafish faithfully recapitulates the human cutis laxa syndrome and highlights the endosomal pathway in disease pathogenesis.

Lore PottiePatrick SipsHanna De SaffelPetra VermassenPaul CouckeBert Callewaert

Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type

Sarah DelbaereAndy WillaertPhil L SalmonPaul CouckeFransiska Malfait

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

Antonio Rodriguez SánchezBrecht GuillemynPaul CouckeMario Vaneechoutte

A1 Journal Article in SCIENTIFIC REPORTS

PCR based target enrichment for variant confirmation, gene panels and multiplex PCR sample tracking in a whole exome sequencing workflow

Frauke CoppietersThalia Van LaethemMatthias De SmetPaul CouckeElfride De BaereKathleen ClaesBjörn MentenJo VandesompeleSteve Lefever

Targeted compound screening for PXE using CRISPR/Cas9 abcc6a mutant zebrafish model

Matthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

The inflammasome pathway is involved in PXE through IL1B upregulation in patients with a severe cardiovascular PXE phenotype

Eva De VilderL. MartinG. LeftheriotisPaul CouckeAnne De PaepeFilip Van NieuwerburghOlivier Vanakker

The zebrafish as a model for fragile bone disorders

Jan Willem BekHanna De SaffelOsama EssawiAdelbert De ClercqPaul Eckhard WittenAnn HuysseuneJuriaan MetzPhil SalmonPaul CouckeAndy Willaert

The zebrafish as a model for recessive types of osteogenesis imperfecta

Jan Willem BekHanna De SaffelOsama EssawiAdelbert De ClercqPaul Eckhard WittenAnn HuysseunePhil SalmonPaul CouckeAndy Willaert

The zebrafish as a model for recessive types of Osteogenesis Imperfecta.

Jan Willem BekHanna De SaffelOsama EssawiAdelbert De ClercqPaul Eckhard WittenAnn HuysseunePhil SalmonPaul CouckeAndy Willaert

Transcriptome and protein analysis highlight the endosomal pathway in disease pathogenesis of metabolic CL syndrome

Lore PottieWouter Van GoolMichiel Van HooydonckPaul CouckePatrick SipsBert Callewaert

Two novel probands with Myhre syndrome identified through WES

Ilse MeerschautAude BeyensWouter SteyaertRiet De RyckeBjörn MentenKatrien BonteTine De BackerSandra JanssensFransiska MalfaitJoseph Panzer et al.

Vascular Ehlers-Danlos syndrome in 2 Polish patients : identification of 2 novel COL3A1 gene mutations

Malgorzata KonieczynskaEwa WypasekMarek KarpinskiMonika KomarSofie SymoensPaul CouckeAnetta Undas

Editorial material

2018

A homozygous CREB3L1 missense mutation expands the mutational spectrum of CREB3L1-related osteogenesis imperfecta

Brecht GuillemynDelfien SyxL DemuynckH KayseriliAnne De PaepePaul CouckeFransiska MalfaitSofie Symoens

A mutant ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome

Lore PottiePatrick SipsPaul CouckeBert Callewaert

A mutant ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome

Lore PottiePatrick SipsPaul Coucke

Arterial tortuosity syndrome : 40 new families and literature review

Aude BeyensJuliette AlbuissonAnnekatrien BoelMazen Al-EssaWaheed Al-ManeaDamien BonnetOzlem BostanOdile BouteTiffany BusaNathalie Canham et al.

A1 Journal Article in GENETICS IN MEDICINE

ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome

Lore PottiePatrick SipsPaul CouckeBert Callewaert

BATCH-GE : analysis of NGS data for genome editing assessment

Wouter SteyaertAnnekatrien BoelPaul CouckeAndy Willaert

Bookchapter in Xenopus : methods and protocols

BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment (vol 6, 30330, 2016)

Annekatrien BoelWouter SteyaertNina De RockerBjörn MentenBert CallewaertAnne De PaepePaul CouckeAndy Willaert

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

Annekatrien BoelHanna De SaffelWouter SteyaertBert CallewaertAnne De PaepePaul CouckeAndy Willaert

A1 Journal Article in DISEASE MODELS & MECHANISMS

Delineation of a clinical scoring system and diagnostic criteria for CCA

Ilse MeerschautShana De ConinckAnnelies MatthysBjorn TuytensWouter SteyaertDaniël De WolfFrank PlasschaertPaul CouckeAnne De PaepeSofie Symoens et al.

Future perspectives of genome-scale sequencing

Wouter SteyaertSteven CallensPaul CouckeBart DermautDimitri HemelsoetWim TerrynBruce Poppe

A1 Journal Article in ACTA CLINICA BELGICA

Generation and validation of a complete knockout model of abcc6a in zebrafish

Matthias Van GilsAndy WillaertEva De VilderPaul CouckeOlivier Vanakker

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

Generation and validation of a complete knockout model of abcc6a in zebrafish

Matthias Van GilsAndy WillaertEva De VilderPaul CouckeOlivier Vanakker

Generation and validation of the first complete knockout model of abcc6a in zebrafish

Matthias Van GilsAndy WillaertEva De VilderPaul CouckeOlivier Vanakker

Generation and validation of the first complete knockout model of abcc6a in zebrafish

Matthias Van GilsAndy WillaertEva De VilderPaul CouckeOlivier Vanakker

Generation and validation of the first complete knockout model of abcc6a in zebrafish

Matthias Van GilsAndy WillaertEva De VilderPaul CouckeOlivier Vanakker

Generation and validation of the first complete knockout model of ABCC6A in zebrafish

Matthias Van GilsAndy WillaertPaul CouckeOlivier Vanakker

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

Osama EssawiSofie SymoensMaha FannanaMohammad DarwishMohammad FarrajAndy WillaertTamer EssawiBert CallewaertAnne De PaepeFransiska Malfait et al.

A1 Journal Article in MOLECULAR GENETICS & GENOMIC MEDICINE

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

Katarina LindahlEva AstromAnca DragomirSofie SymoensPaul CouckeSune LarssonEleftherios PaschalisPaul RoschgerSonja GamsjaegerKlaus Klaushofer et al.

A1 Journal Article in BONE

Implementation of an in-house designed skeletal dysplasia gene panel as a first screening step to diagnose unsolved osteogenesis imperfecta(-like) patients

Brecht GuillemynDelfien SyxToon RosseelH KayserliliAM Cueto-GonzálezL Van MaldergemBjörn MentenAnne De PaepePaul CouckeFransiska Malfait et al.

IRF2BPL is associated with neurological phenotypes

Paul C MarcoglieseVandana ShashiRebecca C SpillmannNicholas StongJill A RosenfeldMary Kay KoenigJulian A Martínez-AgostoMatthew HerzogAgnes H ChenPatricia I Dickson et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type

Sarah DelbaereAndy WillaertPhil L SalmonPaul CouckeFransiska Malfait

Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type

Sarah DelbaereAndy WillaertPhil L SalmonPaul CouckeFransiska Malfait

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

Eva De VilderSTEFANIE CARDOENMohammad J HosenOlivier Le SauxJulie De ZaeytijdBart LeroyJacques De ReuckPaul CouckeAnne De PaepeDimitri Hemelsoet et al.

A1 Journal Article in BRAIN PATHOLOGY

Screening for osteogenic compounds using the zebrafish as a model

Jan Willem BekCharlotte GistelinckHanna De SaffelPaul CouckeAndy Willaert

Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for the interpretation of sequenced variants in the FBN1 gene for Marfan syndrome : proposal for a disease- and gene-specific guideline

Laura Muiño MosqueraFelke SteijnsTjorven AudenaertIlse MeerschautAnne De PaepeWouter SteyaertSofie SymoensPaul CouckeBert CallewaertMarjolijn Renard et al.

A1 Journal Article in CIRCULATION-GENOMIC AND PRECISION MEDICINE

Uncovering the role of atm in zebrafish

Jeroen VierstraeteAnne VralPaul CouckeAndy WillaertKathleen Claes

Uncovering the role of zebrafish in atm

Jeroen VierstraeteAndy WillaertPaul CouckeAnne VralKathleen Claes

Uncovering the role of zebrafish in atm

Jeroen VierstraeteAndy WillaertPaul CouckeAnne VralKathleen Claes

Zebrafish modeling for spondylodysplastic Ehlers-Danlos syndrome, the B4GALT7 type : mimicking the human hypomorphic phenotype in a validated knock-down model

Sarah DelbaereTim Van DammeDelfien SyxPaul CouckeAnne De PaepeSofie SymoensAndy WillaertFransiska Malfait

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

Charlotte GistelinckRonald Y KwonFransiska MalfaitSofie SymoensMatthew P HarrisKatrin HenkeMichael B HawkinsShannon FisherPatrick SipsBrecht Guillemyn et al.

A1 Journal Article in PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

2017

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

Kathrine F LauritsenDorte L LildballePaul CouckeRikke MonradDorte A LarsenPernille A Gregersen

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

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

Mehmet B DuzEmre KiratPaul CouckeErkan KoparirAlper GezdiriciAnne De PaepeBert CallewaertMehmet Seven

A1 Journal Article in CLINICAL DYSMORPHOLOGY

A novel fibrillin-1 mutation in an Egyptian Marfan family : a proband showing nephrotic syndrome due to focal segmental glomerulosclerosis

Mohammad Al-HaggarAshraf BakrYahya WahbaPaul CouckeFatma El-HussiniMona HafezRiham EidAbdel-Rahman EidAmr SarhanAli Shaltout et al.

A2 Journal Article in SAUDI JOURNAL OF KIDNEY DISEASES AND TRANSPLANTATION

Accurate quantification of homologous recombination : a zebrafish brca2-/- model

Jeroen VierstraeteAndy WillaertPetra VermassenLeen PietersPaul CouckeAnne VralKathleen Claes

Accurate quantification of homologous recombination : a zebrafish BRCA2-/- model

Jeroen VierstraeteAndy WillaertPetra VermassenLeen PietersPaul CouckeAnne VralKathleen Claes

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

Jeroen VierstraeteAndy WillaertPetra VermassenPaul CouckeAnne VralKathleen Claes

A1 Journal Article in SCIENTIFIC REPORTS

Arterial tortuosity syndrome : 37 new families and literature review

Aude BeyensJuliette AlbuissonT BusaN CanhamJM ChopinM DasoukiK DevriendtH DietzBjörn Fischer-ZirnsakAlper Gezdirici et al.

Arterial tortuosity syndrome : 40 new families and literature review

Aude BeyensJuliette AlbuissonAnnekatrien BoelMazen Al-EssaDamien BonnetO BostanOdile BouteT BusaN CanhamErgun Cil et al.

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI Dali et al.

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI Dali et al.

Generation and validation of zebrafish models for heritable skeletal disorders

Charlotte GistelinckPaul CouckeAndy Willaert

GLUT10 - lacking in arterial tortuosity syndrome - is localized to the endoplasmic reticulum of human fibroblasts

Alessandra GamberucciPaola MarcolongoCsilla E NémethNicoletta ZoppiAndrás SzarkaNicola ChiarelliTamás HegedűsMarco RitelliGiulia CariniAndy Willaert et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

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

M HurCharlotte GistelinckP HuberJ LeeMH ThompsonAT Monstad-RiosCJ WatsonSK McMenaminAndy WillaertDM Parichy et al.

A1 Journal Article in ELIFE

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa

Tim Van DammeThatjana GardeitchikMiski MohamedSergio Guerrero-CastilloPeter FreisingerBrecht GuillemynAriana KariminejadDaisy DalloyauxSanne van KraaijDirk J Lefeber et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Myhre syndrome : broadening the phenotypic spectrum

Ilse MeerschautSandra JanssensWouter SteyaertJoseph PanzerKatrien FrancoisFrank PlasschaertKatrien BonteTine De BackerPaul CouckeDaniël De Wolf et al.

Myhre syndrome : broadening the phenotypic spectrum

Ilse MeerschautSandra JanssensWouter SteyaertJoseph PanzerKatrien FrançoisFrank PlasschaertKatrien BonteTine De BackerPaul CouckeDaniël De Wolf et al.

Study of homologous recombination repair in BRCA2 knockout zebrafish embryos

Jeroen VierstraeteAndy WillaertPaul CouckeAnne VralKathleen Claes

Study of homologous recombination repair in BRCA2 knockout zebrafish embryos

Jeroen VierstraeteAndy WillaertPaul CouckeAnne VralKathleen Claes

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

Sofie SymoensWouter SteyaertLynn DemuynckAnne De PaepeKarin EM DiderichFransiska MalfaitPaul Coucke

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Whole-exome sequencing as a powerful tool to unravel the molecular pathogenesis of osteogenesis imperfecta

Brecht GuillemynTim Van DammeDelfien SyxS NampoothiriH KayseriliAM Cueto-GonzálezL Van MaldergemAnne De PaepeFransiska MalfaitPaul Coucke et al.

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammePaul CouckeSofie SymoensDelfien SyxAndy WillaertFransiska Malfait

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammePaul CouckeSofie SymoensDelfien SyxAndy WillaertFransiska Malfait

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammePaul CouckeSofie SymoensAndy WillaertFransiska Malfait

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammePaul CouckeSofie SymoensDelfien SyxAndy WillaertFransiska Malfait

2016

A homozygous B3GAT3 mutation causes a multisystemic cutis laxa-like syndrome, expanding the phenotype of linkeropathies

Brecht GuillemynTim Van DammeWouter SteyaertDelfien SyxPaul CouckeAnne De PaepeSofie SymoensSheela NampoothiriFransiska Malfait

An exploratory case-control study on the impact of IL-1 gene polymorphisms on early implant failure

Jan CosynVéronique ChristiaensVINCENT KONINGSVELDPaul CouckePeter De CosterAnne De PaepeHugo De Bruyn

A1 Journal Article in CLINICAL IMPLANT DENTISTRY AND RELATED RESEARCH

Arterial tortuosity syndrome : 29 novel families

Aude BeyensJuliette AlbuissonT BusaN CanhamJM CM. DasoukiK DevriendtH DietzBjörn Fischer-ZirnsakAlper Gezdirici et al.

Association of variants in the VEGFA (Vascular Endothelial Growth Factor) gene with severe retinopathy in pseudoxanthoma elasticum: implications for molecular screening, counseling and management

eva De VilderMohammad Jakir HosenLudovic MartinJulie De ZaeytijdBart LeroyJean-Marc EbranPaul CouckeAnne De PaepeOlivier Vanakker

BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment

Annekatrien BoelWouter SteyaertNina De RockerBjörn MentenBert CallewaertAnne De PaepePaul CouckeAndy Willaert

A1 Journal Article in SCIENTIFIC REPORTS

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

Marwa Haddaji MastouriPeter De CosterAicha ZaghabaniSaoussen TrabelsiYosra MayAli SaadPaul CouckeDorra H'mida ben Brahim

A1 Journal Article in ARCHIVES OF ORAL BIOLOGY

Congenital contractural arachnodactyly

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI Dali et al.

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI Dali et al.

CRISPR-Cas9 modeling of cell lines and zebrafish to study the TLX1-PHF6 cooperative interrelationship in T-cell acute lymphoblastic leukemia

Siebe LoontiensKaat DurinckNina De RockerAnnekatrien BoelEls JanssensSuzanne VanhauwaertPieter RondouCharles De BockInge Van de WalleFinola Moore et al.

DNA diagnostics of hereditary hearing loss : a targeted resequencing approach combined with a mutation classification system

Manou SommenIsabelle SchrauwenGeert VandeweyerNele BoeckxJason J CorneveauxJenneke van den EndeAn BoudewynsEls De LeenheerSandra JanssensKathleen Claes et al.

A1 Journal Article in HUMAN MUTATION

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

RH AliK ShahA NasirWouter SteyaertPaul CouckeW Ahmad

A1 Journal Article in CLINICAL GENETICS

Fibroblasts in soft tissue mineralization display an osteogenic expression pattern but do not transform into mature osteoblasts

Matthias Van GilsEva De VilderMohammad HosenPaul CouckeOlivier Le SauxAnne De PaepeOlivier Vanakker

Fibroblasts in soft tissue mineralization display an osteogenic gene expression pattern but do not transform into mature osteoblasts

Matthias Van GilsEva De VilderMohammad HosenPaul CouckeOlivier LeSauxAnne De PaepeOlivier Vanakker

Fibroblasts in soft tissue mineralization display an osteogenic gene expression pattern but do not transform into mature osteoblasts

Matthias Van GilsEva De VilderMohammad Jakir HosenPaul CouckeOlivier LeSauxAnne De PaepeOlivier Vanakker

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

Csilla E NémethPaola MarcolongoAlessandra GamberucciRosella FulceriAngiolo BenedettiNicoletta ZoppiMarco RitelliNicola ChiarelliMarina ColombiAndy Willaert et al.

A1 Journal Article in FEBS LETTERS

Hearing loss in Waardenburg syndrome: a systematic review

J SongY FengFrederic AckePaul CouckeKris VleminckxIngeborg Dhooge

A1 Journal Article in CLINICAL GENETICS

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

HW OttS PerkhoferPaul CouckeAnne De PaepeM Spannagl

A1 Journal Article in HAEMOPHILIA

Loss of type I collagen telopeptide lysyl hydroxylation causes musculoskeletal abnormalities in a zebrafish model of Bruck syndrome

Charlotte GistelinckPaul Eckhard WittenAnn HuysseuneSofie SymoensFransiska MalfaitDaria LarionovaPascal SimoensManuel DierickLuc Van HoorebekeAnne De Paepe et al.

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

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

Khadim ShahRaja Hussain AliMuhammad AnsarKwanghyuk LeeMuhammad Salman ChishtiIzoduwa AbbeBiao LiJoshua D SmithDeborah A NickersonJay Shendure et al.

A1 Journal Article in BMC MEDICAL GENETICS

RT-qPCR gene expression analysis in zebrafish : preanalytical precautions and use of expressed repetitive elements for normalization

Suzanne VanhauwaertSteve LefeverPaul CouckeFranki SpelemanAnne De PaepeJo VandesompeleAndy Willaert

A1 Journal Article in Methods in Cell Biology

Stickler syndrome: comprehensive clinical and molecular analysis

Frederic AckePaul CouckeOlivier VanakkerKristien HoornaertGeert MortierIngeborg DhoogeAnne De PaepeEls De LeenheerFransiska Malfait

Studying the functionality of the homologous repair pathway in zebrafish embryos : heading for an in vivo functional test to evaluate the pathogenicity of BRCA2 variants

Jeroen VierstraeteAndy WillaertKris VleminckxPetra VermassenLeen PietersPaul CouckeAnne VralKathleen Claes

Studying the functionality of the homologous repair pathway in zebrafish embryos : heading for an in vivo functional test to evaluate the pathogenicity of BRCA2 variants identified in breast/ovarian cancer patients

Jeroen VierstraeteAndy WillaertPetra VermassenLeen PietersPaul CouckeAnne VralKathleen Claes

Studying the functionality of the homologous repair pathway in zebrafish embryos : heading for an in vivo functional test to evaluate the pathogenicity of BRCA2 variants identified in breast/ovarian cancer patients

Jeroen VierstraeteAndy WillaertPetra VermassenLeen PietersPaul CouckeAnne VralKathleen Claes

Studying the functionality of the homologous repair pathway in zebrafish embryos : heading for an in vivo functional test to evaluate the pathogenicity of BRCA2 variants identified in breast/ovarian cancer patients

Jeroen VierstraeteAndy WillaertPetra VermassenLeen PietersPaul CouckeAnne VralKathleen Claes

Zebrafish collagen type I: molecular and biochemical characterization of the major structural protein in bone and skin

Charlotte GistelinckR GioiaA GagliardiF TonelliL MarcheseL BianchiC LandiL BiniAnn HuysseunePaul Eckhard Witten et al.

A1 Journal Article in SCIENTIFIC REPORTS

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammeAndy WillaertSofie SymoensPaul CouckeFransiska Malfait

2015

A zebrafish model for Bruck syndrome caused by PLOD2 mutations

Charlotte GistelinckAndy WillaertPascal SimoensSofie SymoensPaul Eckhard WittenAnn HuysseuneChristian VanhoveFransiska MalfaitAnne De PaepePaul Coucke

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

Laura BianchiAssunta GagliardiSilvia MaruelliRoberta BesioClaudia LandiRoberta GioiaKenneth M. KozloffBasma M. KhouryPaul CouckeSofie Symoens et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

Association between Kniest dysplasia and chondrosarcoma in a child

Audrey HochartAnne DieuxPaul CouckeDamien FronPierre FayouxPierre LabaletteNathalie BoutryFabienne EscandeSébastien AubertFlorence Renaud et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Characterization of a col1a1a haploinsufficient zebrafish model for Osteogenesis Imperfecta type I

Pascal SimoensCharlotte GistelinckSofie SymoensChristian VanhoveFransiska MalfaitAnne De PaepePaul CouckeAndy Willaert

Comparison of methods for in-house screening of HLA*B57:01 to prevent abacavir hypersensitivity in HIV-1 care

Ward De SpiegelaereJan PhilippéKAREN VERVISCHChris VerhofstedeEva MalatinkováMaja KiselinovaWim TrypsteenPawel BonczkowskiDirk VogelaersSteven Callens et al.

A1 Journal Article in PLOS ONE

Defective proteolytic processing of fibrillar procollagens and prodecorin due to biallelic BMP1 mutations results in a severe, progressive form of osteogenesis imperfecta

Delfien SyxBrecht GuillemynSofie SymoensAna Berta SousaAna MedeiraMargo WhitefordTrinh Hermanns-LêPaul CouckeAnne De PaepeFransiska Malfait

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

Efficiency of exome sequencing for the molecular diagnosis of Pseudoxanthoma Elasticum

Mohammad Jakir HosenFilip Van NieuwerburghWouter SteyaertDieter DeforceLudovic MartinGeorges LeftheriotisAnne De PaepePaul CouckeOlivier Vanakker

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

Ehlers-Danlos syndrome, hypermobility type, is linked to chromosome 8p22-8p21.1 in an extended Belgian family

Delfien SyxSofie SymoensWouter SteyaertAnne De PaepePaul CouckeFransiska Malfait

A1 Journal Article in DISEASE MARKERS

Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice

Kim De LeeneerJan HellemansWouter SteyaertSteve LefeverInge VereeckeEveline DebalsBrecht CrombezMachteld BaetensMattias Van HeetveldeFrauke Coppieters et al.

A1 Journal Article in HUMAN MUTATION

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

Laurence CampensBert CallewaertLaura Muiño MosqueraMarjolijn RenardSofie SymoensAnne De PaepePaul CouckeJulie De Backer

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Genetic defects in TAPT1 disrupt ciliogenesis and cause a complex lethal osteochondrodysplasia

Sofie SymoensAileen M BarnesCharlotte GistelinckFransiska MalfaitBrecht GuillemynWouter SteyaertDelfien SyxSanne D'hondtMartine BiervlietJulie De Backer et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

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

Tim Van DammeDelfien SyxPaul CouckeSofie SymoensAnne De PaepeFransiska Malfait

A1 Journal Article in EXPERT OPINION ON ORPHAN DRUGS

Marfan syndrome and related heritable thoracic aortic aneurysms and dissections

Julie De BackerMarjolijn RenardLaurence CampensLaura Muiño MosqueraAnne De PaepePaul CouckeBert CallewaertYskert von Kodolitsch

A1 Journal Article in CURRENT PHARMACEUTICAL DESIGN

Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population

Osama EssawiMohammad A FarrajKim De LeeneerWouter SteyaertKatia De PauwAnne De PaepeKathleen ClaesTamer EssawiPaul Coucke

A1 Journal Article in DISEASE MARKERS

Novel phenotypes and genes in pseudoxanthoma elasticum-related soft tissue mineralization: results of an integrative approach

eva De VilderMohammad Jakir HosenPaul CouckeAnne De PaepeAriana KariminejadGeorges LefthériotisFilip Van NieuwerburghLudovic MartinOlivier Vanakker

Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

Nina De RockerSarah VergultDavid KoolenEva JacobsAlexander HoischenSusan ZeesmanBirgitte BangFrédérique BénaNele BockaertErnie Bongers et al.

A1 Journal Article in GENETICS IN MEDICINE

RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder

Patrick SantensTim Van DammeWouter SteyaertAndy WillaertBernard SablonnièreAnne De PaepePaul CouckeBart Dermaut

A1 Journal Article in NEUROLOGY

The genetics of soft connective tissue disorders

Olivier VanakkerBert CallewaertFransiska MalfaitPaul Coucke

A1 Journal Article in Annual Review of Genomics and Human Genetics

The soft tissue immunologic response to hydroxyapatite-coated transmucosal implant surfaces: a study in humans

ELISABETH DE WILDERyo JimboAnn WennerbergYoshihito NaitoPaul CouckeMatthew S BryingtonStefan VandewegheHugo De Bruyn

A1 Journal Article in CLINICAL IMPLANT DENTISTRY AND RELATED RESEARCH

Tissue specific mosaicism for a lethal COL1A1 mutation causes mild Ehlers-Danlos syndrome

Sofie SymoensWouter SteyaertLynn DemuynckFransiska MalfaitAnne De PaepeKarin EM DiderichPaul Coucke

Type III collagen is important for collagen fibrillogenesis and for dermal and cardiovascular development

Sanne D'hondtBrecht GuillemynSofie SymoensWendy ToussaintLeen VanhoutteRiet De RyckePaul CouckeBart LambrechtPatrick SegersAnne De Paepe et al.

Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development

Sanne D'hondtBrecht GuillemynSofie SymoensWendy ToussaintLeen VanhoutteRiet De RyckePaul CouckePatrick SegersBart LambrechtAnne De Paepe et al.

Whole exome sequencing as a novel tool for the detection of modifier genes in Pseudoxanthoma elasticum

Eva De VilderFilip Van NieuwerburghDieter DeforceLudovic MartinGeorges LefthériotisPaul CouckeAnne De PaepeOlivier Vanakker

2014

A case of dendritic cell, monocyte, B and NK lymphoid deficiency (DCML)

Melissa DullaersTessa KerreFrauke CoppietersDorine SichienNancy De CabooterVeronique DebackerReinhart SpeeckaertPaul CouckeElias DebaereFilomeen Haerynck et al.

A zebrafish model for Bruck Syndrome caused by PLOD2 mutations

Andy WillaertCharlotte GistelinckPascal SimoensSofie SymoensChristian VanhoveFransiska MalfaitAnne De PaepePaul Coucke

Absence of cardiovascular manifestations in a haploinsufficient TGFBR1 mouse model

Marjolijn RenardBram TrachetChristophe CasteleynLaurence CampensPieter CornillieBert CallewaertSteven DeleyeBert VandeghinstePaula van HeijningenHarry Dietz et al.

A1 Journal Article in PLOS ONE

Arterial tortuosity syndrome

Bert CallewaertAnne De PaepePaul Coucke

Bookchapter in GeneReviews®

Characterization of a COL1A1A haploinsufficient zebrafish model for Osteogenesis Imperfecta type I

Charlotte GistelinckPascal SimoensSofie SymoensChristian VanhoveFransiska MalfaitAnne De PaepePaul CouckeAndy Willaert

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

Virendra MeharDinesh YadavRavindra KumarSummi YadavKuldeep SinghBert CallewaertShahnawaz ParhanAnne De PaepePaul Coucke

A2 Journal Article in JOURNAL OF PEDIATRIC GENETICS

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

Françoise MJ RoulezFranny FaesPatricia DelbekePatrick Van BogaertGeorges RodeschJulie De ZaeytijdFanny DepassePaul CouckeFrancoise M Meire

A1 Journal Article in JOURNAL OF NEURO-OPHTHALMOLOGY

Defects in TAPT1, involved in axial skeletal patterning, cause a complex lethal recessive disorder of skeletal development

Sofie SymoensAileen BarnesCharlotte GistelinckFransiska MalfaitKris VleminckxBrecht GuillemynDelfien SyxWouter SteyaertEef ParthoensMartine Biervliet et al.

Diagnostic criteria for Stickler syndrome based on comprehensive clinical and molecular analysis

Frederic AckePaul CouckeOlivier VanakkerKristien HoornaertIngeborg DhoogeAnne De PaepeEls De LeenheerFransiska Malfait

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

Suzanne VanhauwaertGert Van PeerAli RihaniEls JanssensPieter RondouSteve LefeverAnne De PaepePaul CouckeFranki SpelemanJo Vandesompele et al.

A1 Journal Article in PLOS ONE

Focal segmental glomerulosclerosis in a child with Marfan syndrome and novel fibrillin gene mutation

Ashraf BakrMohammad Al-haggarRiham EidYahya WahbaPaul CouckeMona HafezAmr SarhanAyman HammadAhmed AlrefayAtef Almougy et al.

Illumina sequencing of 15 deafness genes using fragmented amplicons

Filip Van NieuwerburghSarah De KeulenaerJoachim De SchrijverJo VandesompeleWim Van CriekingePaul CouckeDieter Deforce

A2 Journal Article in BMC RESEARCH NOTES

Mutation detection rate and - characteristics in thoracic aortic aneurysm (TAA) related disorders: results from next generation sequencing (NGS) panel testing

Laurence CampensLaura Muiño MosqueraBert CallewaertMarjolijn RenardMachteld BaetensAnne De PaepePaul CouckeJulie De Backer

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

Adeline JacquinetAlain VerloesBert CallewaertChristine CoremansPaul CouckeAnne De PaepeUwe KornakFrederic LebrunJacques LombetGérald E Piérard et al.

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

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

Frederic AckeFransiska MalfaitOlivier VanakkerWouter SteyaertKim De LeeneerGeert MortierIngeborg DhoogeAnne De PaepeEls De LeenheerPaul Coucke

A1 Journal Article in MOLECULAR GENETICS AND METABOLISM

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

Mohammad Jakir HosenPaul CouckeOlivier Le SauxAnne De PaepeOlivier Vanakker

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

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

Björn FischerBert CallewaertPhillipe SchroterPaul CouckeClaire SchlackClaus-Eric OttManrico MorroniWolfgang HomannStefan MundlosEva Morava et al.

A1 Journal Article in MOLECULAR GENETICS AND METABOLISM

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

Sofie SymoensDavid JS HulmesJean-Marie BourhisPaul CouckeAnne De PaepeFransiska Malfait

A1 Journal Article in HUMAN MUTATION

2013

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

Isabelle SchrauwenManou SommenJason J CorneveauxRebecca A ReimanNicole J HackettCharlotte ClaesKathleen ClaesMaria Bitner-GlindziczPaul CouckeGuy Van Camp et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Audiologic and genetic determination of hearing loss in osteogenesis imperfecta

Freya SwinnenEls De LeenheerPaul CouckeCor CremersIngeborg Dhooge

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

Bert CallewaertChi-Ting SuTim Van DammePhilip VlummensFransiska MalfaitOlivier VanakkerBianca SchulzMeghan Mac NealElaine C DavisJoseph GH Lee et al.

A1 Journal Article in HUMAN MUTATION

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

Sofie SymoensFransiska MalfaitSanne D'hondtBert CallewaertAnnelies DheedeneWouter SteyaertHans Peter BächingerAnne De PaepeHulya KayseriliPaul Coucke

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Dermatosparaxis (Ehlers–Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery

Joyce SolomonsPaul CouckeSofie SymoensMarta C CohenF Michael PopeBart E WagnerGlenda SobeyRebecca BlackDeirdre Cilliers

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Ewa WypasekDaniel P PotaczekRenata StaporPaul CouckeJulie De BackerAnne De PaepeAnetta Undas

A1 Journal Article in POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ-POLISH ARCHIVES OF INTERNAL MEDICINE

Genes in thoracic aortic aneurysms and dissections : do they matter? Translation and integration of research and modern genetic techniques into daily clinical practice

Julie De BackerMarjolijn RenardLaurence CampensKatrien FrancoisBert CallewaertPaul CouckeAnne De Paepe

A2 Journal Article in AORTA

Long-term effects of continuing adjuvant tamoxifen to 10 years versus stopping at 5 years after diagnosis of oestrogen receptor-positive breast cancer: ATLAS, a randomised trial

Christina DaviesHongchao PanJon GodwinRichard GrayRodrigo ArriagadaVinod RainaMirta AbrahamVictor Hugo Medeiros AlencarAtef BadranXavier Bonfill et al.

A1 Journal Article in LANCET

New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissections

Laurence CampensMarjolijn RenardBert CallewaertPaul CouckeJulie De BackerAnne De Paepe

A1 Journal Article in POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ-POLISH ARCHIVES OF INTERNAL MEDICINE

Novel COL11A1 mutations in Stickler syndrome detected by next-generation sequencing

Frederic AckeFransiska MalfaitOlivier VanakkerWouter SteyaertKim De LeeneerGeert MortierIngeborg DhoogeAnne De PaepeEls De LeenheerPaul Coucke

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

Marjolijn RenardBert CallewaertMachteld BaetensLaurence CampensKay MacDermotJean-Pierre FrynsMarise BonduelleHarry C DietzIsabel Mendes GasparDiogo Cavaco et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF CARDIOLOGY

Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum

Alexander JanssenMohammad Jakir HosenPhilippe JeanninPaul CouckeAnne De PaepeOlivier Vanakker

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2

Marjolijn RenardBert CallewaertFransiska MalfaitLaurence CampensSaba SharifMiguel del CampoIrene ValenzuelaCatherine McwilliamPaul CouckeAnne De Paepe et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF CARDIOLOGY

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

Smail Hadj-RabiaBert CallewaertEmmanuelle BourratMarlies KempersAstrid S PlompValerie LayetDeborah BartholdiMarjolijn RenardJulie De BackerFransiska Malfait et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome

Aideen M Mclnerney-LeoMhairi S MarshallBrooke GardinerPaul CouckeLut Van LaerBart L LoeysKim M SummersSofie SymoensJennifer A WestMalcolm J West et al.

A2 Journal Article in BONEKEY REPORTS

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

Mohammad Jakir HosenOlivier VanakkerAndy WillaertAnn HuysseunePaul CouckeAnne De Paepe

A2 Journal Article in FRONTIERS IN GENETICS

2012

A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment

Isabelle SchrauwenSarah HelfmannAkira InagakiFriederike PredoehlMohammad Amin TabatabaiefarMaria Magdalena PicherManou SommenCelia Zazo SecoJaap OostrikHannie Kremer et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

A new case of dendritic cell immunodeficiency: the 'DCML-like' syndrome

Tessa KerreMelissa DullaersDorine SichienReinhart SpeeckaertPaul CouckeB. LambrechtK. Vermaelen

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

Denise van der LindeIngrid MBH van de LaarAida M Bertoli-AvellaRogier A OldenburgJos A BekkersFrancesco US Mattace-RasoAnton H van den MeirackerAdriaan MoelkerFop van KootenIngrid ME Frohn-Mulder et al.

A1 Journal Article in JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Arterial tortuosity syndrome : case report

C KarakurtG KoçakÖ ElkiranPaul CouckeL Van Maldergem

A1 Journal Article in GENETIC COUNSELING

Association between bone mineral density and hearing loss in osteogenesis imperfecta

Freya SwinnenEls De LeenheerStefan GoemaereCor WRJ CremersPaul CouckeIngeborg Dhooge

A1 Journal Article in LARYNGOSCOPE

Audiologic and genetic determination of hearing loss in osteogenesis imperfecta

Freya SwinnenEls De LeenheerPaul CouckeCor CremersIngeborg Dhooge

Audiologic and genetic determination of hearing loss in osteogenesis imperfecta

Freya SwinnenIngeborg DhoogePaul CouckeCor Cremers

Audiologic phenotype of osteogenesis imperfecta: use in clinical differentiation

Freya SwinnenIngeborg DhoogePaul CouckePatrizia D'EufemiaFrancesco ZardoTon JTM GarretsenCor WRJ CremersEls De Leenheer

A1 Journal Article in OTOLOGY & NEUROTOLOGY

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

Mahesh KappanayilSheela NampoothiriRajesh KannanMarjolijn RenardPaul CouckeFransiska MalfaitSwapna MenonHiran K RavindranRenu KurupMuhammad Faiyaz-Ul-Haque et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Comprehensive characterization of LEDGF/p75 in a HIV-1 infected patient cohort

Peter MessiaenWard De SpiegelaereJose AlcamiPaul CouckePetra Van AckerKaren VervischBruno VerhasseltPieter MeeuwissenBruce PoppeDirk Vogelaers et al.

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

Sofie SymoensDelfien SyxFransiska MalfaitBert CallewaertJulie De BackerOlivier VanakkerPaul CouckeAnne De Paepe

A1 Journal Article in HUMAN MUTATION

Development of a novel COL3A1 transgenic mouse model for vascular Ehlers Danlos Syndrome

Yike KangSofie SymoensFransiska MalfaitPaul CouckeMarjolijn RenardBrecht GuillemynJulie De BackerFilipe Branco MadeiraWendy ToussaintLeen Vanhoutte et al.

Erfelijke vormen van thoracale aorta-aneurysma's en -dissecties : diagnostiek en beleid

Anne De PaepeBert CallewaertLaurence CampensPaul CouckeFransiska MalfaitMarjolijn RenardOlivier VanakkerJulie De BackerLAURENT DEMULIERKatrien Francois et al.

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling

Andy WillaertSandeep KhatriBert CallewaertPaul CouckeSeth CrosbyJoseph LeeElaine DavisSruti ShivaMichael TsangAnne De Paepe et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

Methotrexate in children with acute lymphoblastic leukaemia : impact of pharmacogenetic polymorphisms on plasma concentration, toxicity and outcome

Lien CattoirLiesbeth HuysPaul CouckeYves BenoitTieneke BautersBarbara De Moerloose

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

Sarah De KeulenaerJan HellemansSteve LefeverJean-Pierre RenardJoachim De SchrijverHendrik Van de VoordeMohammad Amin TabatabaiefarFilip Van NieuwerburghDaisy FlamezFilip Pattyn et al.

A1 Journal Article in BMC MEDICAL GENOMICS

Mutation-based growth charts for SEDC and other COL2A1 related dysplasias

Paulien A TerhalPaula van DommelenMartine Le MerrerAndreas ZanklMarleen EH SimonSarah F SmithsonCarlo MarcelisBronwyn KerrEsther KinningSahar Mansour et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome

Ingrid MBH van de LaarDenise van der LindeEdwin HG OeiPieter K BosJohannes H BessemsSita M Bierma-ZeinstraBelle L van MeerGerard PalsRogier A OldenburgJos A Bekkers et al.

A1 Journal Article in 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

Julie DésirMarie CassartCatherine DonnerPaul CouckeMarc AbramowiczGeert Mortier

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Stapes surgery in osteogenesis imperfecta: retrospective analysis of 34 operated ears

Freya SwinnenEls De LeenheerPaul CouckeCor WRJ CremersIngeborg Dhooge

A1 Journal Article in AUDIOLOGY AND NEURO-OTOLOGY

Study of the role of type V collagen in heritable connective tissue diseases

Sofie SymoensAnne De PaepePaul Coucke

Temporal bone imaging in osteogenesis imperfecta patients with hearing loss

Freya SwinnenJan CasselmanPaul CouckeCor CremersEls De LeenheerIngeborg Dhooge

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

Katarina MöbergSylvia De NobeleDaniel DevosEls GoetghebeurPatrick SegersBram TrachetChris VervaetMarjolijn RenardPaul CouckeBart Loeys et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF CARDIOLOGY

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

L FaivreG Collod-BeroudL AdèsE ArbustiniA ChildBert CallewaertBart LoeysC BinquetE GautierK Mayer et al.

A1 Journal Article in CLINICAL GENETICS

Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum

eva De VilderMohammad Jakir HosenLudovic MartinBart LeroyJean-Marc EbranPaul CouckeAnne De PaepeOlivier Vanakker

Translational impact of VEGFA variants on the prediction and follow-up of ocular complications in pseudoxanthoma elasticum

eva De VilderMohammad Jakir HosenLudovic MartinBart LeroyJean-Marc EbranPaul CouckeAnne De PaepeOlivier Vanakker

2011

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

Machteld BaetensLut Van LaerKim De LeeneerJan HellemansJoachim De SchrijverHendrik Van de VoordeMarjolijn RenardHal DietzRonald V LacroBjörn Menten et al.

A1 Journal Article in HUMAN MUTATION

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

Olivier VanakkerBart LeroyLeon J SchurgersCees VermeerPaul CouckeAnne De Paepe

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Comprehensive characterization of LEDGF/p75 in a HIV-1-infected patient cohort

Peter MessiaenWard De SpiegelaereChris VerhofstedePaul CouckePetra Van AckerPhilip VlummensKAREN VERVISCHDirk VogelaersBruce PoppeJose Alcami et al.

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

Olivier VanakkerKris De CoenLaura CostropPaul CouckePiet VanhaesebrouckAnne De Paepe

A1 Journal Article in JOURNAL OF PEDIATRICS

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

Sofie SymoensMarjolijn RenardChristelle Bonod-BidaudDelfien SyxElisabeth VaganayFransiska MalfaitSylvie Ricard-BlumEfrat KesslerLut Van LaerPaul Coucke et al.

A1 Journal Article in BIOCHEMICAL JOURNAL

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

Kim De LeeneerJan HellemansJoachim De SchrijverMachteld BaetensBruce PoppeWim Van CriekingeAnne De PaepePaul CouckeKathleen Claes

A1 Journal Article in HUMAN MUTATION

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

Bert CallewaertMarjolijn RenardVishwanathan HucthagowderBeate AlbrechtIngrid HausserEdward BlairCristina DiasAlice AlbinoHiroshi WachiFumiaki Sato et al.

A1 Journal Article in HUMAN MUTATION

Osteogenesis imperfecta: the audiologic phenotype lacks correlation with the genotype

Freya SwinnenPaul CouckeAnne De PaepeSofie SymoensFransiska MalfaitFilomena GentileLuca SangiorgiPatrizia D'EufemiaTon GarretsenCor Cremers et al.

Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

Freya SwinnenPaul CouckeAnne De PaepeSofie SymoensFransiska MalfaitFilomena V GentileLuca SangiorgiPatrizia D'EufemiaMauro CelliTon JTM Garretsen et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Practical tools to implement massive parallel pyrosequencing of PCR products in next generation molecular diagnostics

Kim De LeeneerJoachim De SchrijverLieven ClementMachteld BaetensSteve LefeverSarah De KeulenaerWim Van CriekingeDieter DeforceFilip Van NieuwerburghSofie Bekaert et al.

A1 Journal Article in PLOS ONE

Stapes surgery in osteogenesis imperfecta: retrospective analysis of 34 operated ears

Freya SwinnenEls De LeenheerPaul CouckeCor CremersIngeborg Dhooge

2010

Added value of infrared, red-free and autofluorescence fundus imaging in Pseudoxanthoma elasticum

Julie De ZaeytijdOlivier VanakkerPaul CouckeAnne De PaepeJean DelaeyBart Leroy

A1 Journal Article in BRITISH JOURNAL OF OPHTHALMOLOGY

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

Marjolijn RenardTammy HolmRegan VeithBert CallewaertLesley C AdèsOsman BaspinarAngela PickartMajed DasoukiJuliane HoyerAnita Rauch et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

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

Joachim De SchrijverKim De LeeneerSteve LefeverNick SabbeFilip PattynFilip Van NieuwerburghPaul CouckeDieter DeforceJo VandesompeleSofie Bekaert et al.

A1 Journal Article in BMC BIOINFORMATICS

Cytogenetic and Array-CGH Characterization of a 6q27 Deletion in a Patient With Developmental Delay and Features of Ehlers-Danlos Syndrome

AL MoscaP CallierA Masurel-PauletC Thauvin-RobinetN MarleM NouchyF HuetD DipandaAnne De PaepePaul Coucke et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

Frauke CoppietersIngele CasteelsFrançoise MeireSarah De JaegereSally HoogheNicole van RegemorterHilde Van EschAušra MatulevičienėLuis NunesVALERIE MEERSSCHAUT et al.

A1 Journal Article in HUMAN MUTATION

Het Marfansyndroom : een paradigma voor de studie van aorta-aneurysma's

Julie De BackerMarjolijn RenardPaul CouckeLut Van LaerAnne De PaepeBart Loeys

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

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

Olivier VanakkerLudovic MartinLeon J SchurgersDaniela QuaglinoLaura CostropCees VermeerIvonne Pasquali-RonchettiPaul CouckeAnne De Paepe

A1 Journal Article in LABORATORY INVESTIGATION

Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome

Bart LoeysEE GerberD Riegert-JohnsonS IqbalP WhitemanV McConnellCR ChillakuriD MacayaPaul CouckeAnne De Paepe et al.

A1 Journal Article in SCIENCE TRANSLATIONAL MEDICINE

Next generation sequencing: (r)evolutie in DNA sequenering en haar rol in de moderne geneeskunde

Jan HellemansSofie BekaertJo VandesompelePaul CouckeAnne De Paepe

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

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

Laura CostropOlivier VanakkerLut Van LaerOlivier Le SauxL MartinN ChassaingD GuerraI Pasquali-RonchettiPaul CouckeAnne De Paepe

A1 Journal Article in JOURNAL OF HUMAN GENETICS

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

Elke VerstraetenSofie SymoensMarjolijn RenardBert CallewaertK VandekerckhoveJulie De BackerFransiska MalfaitL MarksPaul CouckeAnne De Paepe et al.

A1 Journal Article in CLINICAL DYSMORPHOLOGY

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

Kristien HoornaertInge VereeckeChantal DewinterThomas RosenbergFrits A BeemerJuliaan LeroyLaila BendixErik BjörckMaryse BonduelleOdile Boute et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

2009

Anomalies leading to the mineralization of elastic fibers in pseudoxanthoma elasticum and the PXE-like syndrome

Y Le CorreL MartinOlivier VanakkerL SchurgersD GheduzziC VermeerI Pasquali-RonchettiPaul CouckeAnne De Paepe

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

Freya SwinnenEls De LeenheerPaul CouckeCor WRJ CremersIngeborg Dhooge

A1 Journal Article in LARYNGOSCOPE

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

Laurence FaivreAlice Masurel-PauletGwenaëlle Collod-BéroudBert CallewaertAnne H ChildChantal StheneurChristine BinquetElodie GautierBertrand ChevallierFrédéric Huet et al.

A1 Journal Article in PEDIATRICS

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

Laurence FaivreG Collod-BeroudBert CallewaertA ChildC BinquetE GautierBart LoeysE ArbustiniK MayerM Arslan-Kirchner et al.

A1 Journal Article in European Journal of Human Genetics

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

Sofie SymoensFransiska MalfaitMarjolijn RenardJosette AndréIngrid HausserBart LoeysPaul CouckeAnne De Paepe

A1 Journal Article in HUMAN MUTATION

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature

Bert CallewaertBart LoeysAnna FiccadentiSascha VermeerMagnus LandgrenHester Y KroesYuval YaronMichael PopeNicola FouldsOdile Boute et al.

A1 Journal Article in HUMAN MUTATION

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

L FaivreG Collod-BeroudBert CallewaertA ChildBart LoeysC BinquetE GautierE ArbustiniK MayerM Arslan-Kirchner et al.

A1 Journal Article in American Journal of Medical Genetics Part A

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

Andy WillaertFransiska MalfaitSofie SymoensKris GevaertH. KayseriliA. MegarbaneGeert MortierJ. G. LeroyPaul CouckeAnne De Paepe

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

2008

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

Andy WillaertInge Van PottelberghHans-Georg ZmierczakStefan GoemaereJean KaufmanAnne De PaepePaul Coucke

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

A Hotspot Splicing Mutation in LEPREI Affects Prolyl 3-hydroxylation and Causes Recessive Osteogenesis Imperfecta

Andy WillaertSofie SymoensFransiska MalfaitKris GevaertPaul CouckeAnne De Paepe

A hotspot splicing mutation in LEPREI affects prolyl 3-hydroxylation and causes recessive osteogenesis imperfecta

Fransiska MalfaitAndy WillaertSofie SymoensPaul CouckeAnne De Paepe

Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions

Bert CallewaertBart LoeysChristophe CasteleynAndy WillaertPieter DewintJulie De BackerR SedlmeierPaul SimoensAnne De PaepePaul Coucke

A1 Journal Article in GENESIS

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

Bert CallewaertAndy WillaertWS KERSTJENS-FREDERIKSEJulie De BackerK DEVRIENDTB ALBRECHTMA RAMOS-ARROYOM DOCO-FENZYRCM HENNEKAMRE PYERITZ et al.

A1 Journal Article in HUMAN MUTATION

Audiologic and genetic characterization of hearing loss in Osteogenesis Imperfecta

Freya SwinnenEls De LeenheerStefan GoemaereAnne De PaepeC CREMERSPaul CouckeIngeborg Dhooge

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands

L FaivreG Collod-BeroudA ChildBert CallewaertBart LoeysC BinquetE GautierE ArbustiniK MayerM Arslan-Kirchner et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Discovery of genes in thoracic aortic aneurysms

Paul CouckeBart LoeysBert CallewaertAnne De Paepe

Bookchapter in Aortic aneurysms : new insights into an old problem

Genotype and phenotype of Stickler syndrome caused by mutations in the COL2A1 gene

Kristien HoornaertChantal DewinterInge VereeckePaul CouckeGeert Mortier

A2 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Management of hearing loss: surgery (incudostapedotomy and malleostapedotomy) and outcome of the procedure

Cor CremersFreya SwinnenEls De LeenheerPaul CouckeIngeborg Dhooge

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

Olivier VanakkerBart LeroyPaul CouckeLionel G BercovitchJouni UittoDennis ViljoenSharon F TerryPetra Van AckerDirk MatthysBart Loeys et al.

A2 Journal Article in HUMAN MUTATION

2007

Arteriële tortuositeit door fout in glucosetransporter

Anne De PaepePaul CouckeBart Loeys

A4 Journal Article in Agenda voor de Cardiologie

COL2A1-related skeletal dysplasias with predominant metaphyseal involvement

K WALTERM TANSEKES TOBIASS IKEGAWAPaul CouckeJ HYLANDGeert MortierT IWAYAG NISHIMURAA SUPERTI-FURGA et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Consortium for osteogeneslis imperfecta mutations in the helical domain of type I collagen: Regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

JC MARINIA FORLINOWA CABRALAM BARNESJD SAN ANTONIOS MILGROMJC HYLANDJ KORKKODJ PROCKOPAnne De Paepe et al.

A1 Journal Article in HUMAN MUTATION

Czech dysplasia metatarsal type: another type II collagen disorder

Kristien HoornaertIvo MarikKazimierz KozlowskiTrevor ColeMartine Le MerrerJuliaan LeroyPaul CouckeDavid SillenceGeert Mortier

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Een Belgische patiënt met Arterial Tortuosity Syndrome

Bert CallewaertBart LoeysJulie De BackerAndy WillaertD DevosM GewilligPaul CouckeK DevriendtAnne De Paepe

A2 Journal Article in TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS = JOURNAL DU PEDIATRE BELGE

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

L FaivreG Collod-BeroudBart LoeysA ChildC BinquetE GautierBert CallewaertE ArbustiniK MayerM Arslan-Kirchner et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Mutation detection in the ABCC6 gene and analysis in a large international cohort affected by pseudoxanthoma elasticum

EG PfendnerSF TerryS VourthisP McAndrewMR McClainS FrattaA MaraisS HaririPaul CouckeOlivier Vanakker et al.

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

Ellen G PfendnerOlivier VanakkerSharon F TerrySophia VourthisPatricia E McAndrewMonica R McClainSarah FrattaAnna-Susan MaraisSusan HaririPaul Coucke et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

Isabelle AudoOlivier VanakkerAlaric SmithBart LeroyAnthony G RobsonSharon A JenkinsPaul CouckeAlan C BirdAnne De PaepeGraham E Holder et al.

A1 Journal Article in INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

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

Olivier VanakkerLudovic MartinDealba GheduzziBart LeroyBart LoeysVeronica I GuerciDirk MatthysSharon F TerryPaul CouckeIvonne Pasquali-Ronchetti et al.

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

Frauke CoppietersBart LeroyDIANE BEYSENJan HellemansKarolien De BosscherGuy HaegemanKIRSTEN ROBBERECHTWim WuytsPaul CouckeElfride De Baere

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Three arginine to cysteine substitutions 4 in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood

Fransiska MalfaitSofie SymoensJulie De BackerTrinh HERMANNS-LENatzi SAKALIHASANCharles M LAPIEREPaul CouckeAnne De Paepe

A1 Journal Article in HUMAN MUTATION

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

Julie De BackerBart LoeysBart LeroyPaul CouckeH DIETZAnne De Paepe

A1 Journal Article in CLINICAL GENETICS

2006

Aneurysm syndromes caused by mutations in the TGF-beta receptor

Bart LoeysU SCHWARZET HOLMBert CallewaertGH THOMASH PANNUJulie De BackerGL OSWALDS SYMOENSS MANOUVRIER et al.

A1 Journal Article in NEW ENGLAND JOURNAL OF MEDICINE

EDS/OI caused by collagen type I mutations

Fransiska MalfaitSofie SymoensYves Vander HaeghenJean NaeyaertN GoemansE HolmbergM PetersenPaul CouckeAnne De Paepe

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

QR HUBart LoeysPaul CouckeAnne De PaepeRP MECHAMJ CHOIEC DAVISZ URBAN

A1 Journal Article in HUMAN MOLECULAR GENETICS

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis

Jan HellemansPhilippe DebeerMichael WrightAndreas JaneckeKlaus W KjaerPeter VerdonkRavi SavarirayanLina BaselCelia MossJohannes Roth et al.

A2 Journal Article in HUMAN MUTATION

Mutation analysis in the FBN1 gene in patients with Marfan Syndrome

Paul CouckePetra Van AckerAnne De Paepe

Bookchapter in Congenital Heart Diseases

Mutation analysis of the FBN1 gene in patients with Marfan syndrome

Paul CouckePetra Van AckerAnne De Paepe

A4 Journal Article in METHODS IN MOLECULAR MEDICINE

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

Paul CouckeAndy WillaertMW WESSELSBert CallewaertN ZOPPIJulie De BackerJE FOXGMS MANCINIM KAMBOURISR GARDELLA et al.

A1 Journal Article in NATURE GENETICS

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

Kristien HoornaertChantal DewinterInge VereeckeFA BEEMERW COURTENSA FRYERH FRYSSIRAM LEESA MULLNER-EIDENBOCKDL RIMOIN et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Total absence of the alpha 2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems

Fransiska MalfaitSofie SymoensPaul CouckeL NunesS De AlmeidaAnne De Paepe

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Variability of aortic stiffness is not associated with the fibrillin 1 genotype in patients with Marfan's syndrome

Julie De BackerGJ NOLLENDaniel DevosG PALSPaul CouckeKoenraad VerstraeteEE VAN DER WALLAnne De PaepeBJM MULDER

Editorial material

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

Olivier VanakkerDirk VoetMirko PetrovicFrédérique Van RobaeysBart LeroyPaul CouckeAnne De Paepe

A1 Journal Article in BRITISH JOURNAL OF RADIOLOGY

2005

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

Bart LoeysJJ CHENER NEPTUNEDP JUDGEM PODOWSKIT HOLMJ MEYERSCC LEITCHN KATSANISN SHARIFI et al.

A1 Journal Article in NATURE GENETICS

Aortic aneurysm, short stature and eye anomalies: expanding the phenotype of fibrillin-1 disorders

Julie De BackerPaul CouckeAnne De Paepe

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

Bert Vander CruyssenHarald PeetersIlse HoffmanDebby LaukensPaul CouckeDENIS MARICHALClaude CuvelierErik RemautEric VeysHerman Mielants et al.

A1 Journal Article in CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Defective protein glycosylation in patients with cutis laxa syndrome

E MoravaS WopereisPaul CouckeG Gillessen-KaesbachT VoitJ SmeitinkR WeversS Grünewald

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Loeys-Dietz syndrome: a new aortic aneurysm syndrome with an aggressive clinical course and widespread vascular involvement

Julie De BackerBart LoeysPaul CouckeJ CHENHC DIETZAnne De Paepe

Missense mutations in LRP5 are not a common cause of idiopathic osteoporosis in adult men

Patricia CrabbeW BALEMANSAndy WillaertI VAN POTTELBERGHE CLEIRENPaul CouckeMR AIStefan GoemaereW VAN HULAnne De Paepe et al.

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

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

Anne De PaepeBart LoeysPaul Coucke

Bookchapter in Marfan Syndrome : a primer for clinicians and scientists

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

EA OTTOB LOEYSH KHANNAJan HellemansR SUDBRAKSL FANU MUERBJF O'TOOLEJ HELOUM ATTANASIO et al.

A1 Journal Article in NATURE GENETICS

The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients

Fransiska MalfaitPaul CouckeSofie SymoensBart LoeysLieve NuytinckAnne De Paepe

A1 Journal Article in HUMAN MUTATION

2004

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

Bart LoeysJulie De BackerPetra Van AckerKaren WettinckG PALSLieve NuytinckPaul CouckeAnne De Paepe

A1 Journal Article in HUMAN MUTATION

DUP25 remains unconfirmed

Stefan VermeulenBjörn MentenSylvia De BiePaul CouckeFransiska MalfaitJulie De BackerFranki SpelemanAnne De PaepeB LOEYS

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ehlers-Danlos syndrome

Fransiska MalfaitPaul CouckeAnne De Paepe

Bookchapter in Encyclopedia of medical genomics and proteomics

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

Jan HellemansO PREOBRAZHENSKAAndy WillaertP DEBEERPETER VERDONKT COSTAK JANSSENSBjörn MentenNadine Van RoyStefan Vermeulen et al.

A1 Journal Article in NATURE GENETICS

Met > Val substitution in a highly conserved region of the pro-alpha 1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype

Sofie SymoensLieve NuytinckE LEGIUSFransiska MalfaitPaul CouckeAnne De Paepe

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Mutation analysis of the LRP5 gene in men with idiopathic osteoporosis

P CRABBEAndy WillaertI VAN POTTELBERGHPaul CouckeS GOEMAEREAnne De PaepeJ KAUFMAN

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

Harald PeetersBert Vander CruyssenDebby LaukensPaul CouckeDENIS MARICHALMARTINA VAN DEN BERGHEClaude CuvelierErik RemautHerman MielantsFilip De Keyser et al.

A1 Journal Article in ANNALS OF THE RHEUMATIC DISEASES

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

L FAIVREM LE MERRERS DOUVIERN LAURENTC THAUVIN-ROBINETT ROUSSEAUI VEREECKEP SAGOTAL DELEZOIDEPaul Coucke et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Three new families with arterial tortuosity syndrome

MW WESSELSCE CATSMAN-BERREVOETSGMS MANCINIMH BREUNINGJJM HOOGEBOOMH STROINKI FROHN-MULDERPaul CouckeAnne De PaepeMF NIERMEIJER et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

2003

Homozygosity mapping of a gene for arterial tortuosity snydrome

Paul CouckeNW WESSELSPetra Van AckerR GARDELLAS BARLATIPJ WILLEMSM COLOMBIAnne De Paepe

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

Paul CouckeMW WesselsPetra Van AckerR GardellaS BarlatiPJ WillemsM ColombiAnne De Paepe

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

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

Jan HellemansPaul CouckeA GIEDIONAnne De PaepeP KRAMERF BEEMERGeert Mortier

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

2002

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

G VAN CAMPPaul CouckeJ AKITAE FRANSENS ABEEMR DE LEENHEERP HUYGENC CREMERSSI USAMI

A1 Journal Article in HUMAN MUTATION

A non-glycine mutation in the C-propeptide of the alpha1(I) collagen chain causes mild Osteogenesis imperfecta and EDS-like features

Sofie SymoensLieve NuytinckPaul CouckeBart LoeysE LegiusAnne De Paepe

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

Bart LoeysL VAN MALDERGEMGeert MortierPaul CouckeS GERNIERSJean NaeyaertAnne De Paepe

A1 Journal Article in HUMAN MOLECULAR GENETICS

Longitudinal and cross-sectional phenotype analysis in a new, large dutch DFNA2/KCNQ4 family.

EMR DE LEENHEERP HUYGENPaul CouckeR ADMIRAALG VAN CAMPC CREMERS

A1 Journal Article in ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY

2001

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment

Lut Van LaerPaul CouckeRF MuellerG CaethovenK FlothmannSD PrasadGP ChamberlinM HousemanGR TaylorCM Van de Heyning et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

2000

DFNA 2, 5, 8, 12

Guy Van CampPaul CouckePeter Van HauweLut Van LaerKristien VerhoevenFloris WuytsRichard J.H. Smith

Bookchapter in Genetics in Otolaryngology

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

Paul CouckeLut Van LaerJohan MeyersPeter Van HauweNatascha OttschytschJan G. WautersPhil KelleyPatrick J. WillemsGuy Van Camp

A2 Journal Article in Genescreen

1998

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

K VerhoevenLut Van LaerK KirschhoferPK LeganDC HughesI SchattemanM VerstrekenP Van HauwePaul CouckeA Chen et al.

A1 Journal Article in NATURE GENETICS

1997

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

Lut Van LaerG Van CampD van ZuijlenED GreenM VerstrekenI SchattemanP Van de HeyningW BalemansPaul CouckeJH Greinwald et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

1995

LOCALIZATION OF A GENE FOR NON-SYNDROMIC HEARING-LOSS (DFNA5) TO CHROMOSOME 7P15

G VAN CAMPPaul CouckeW BALEMANSD VAN VELZENC VANDEBILTLut Van LaerRJH SMITHK FUKUSHIMAGW PADBERGRR FRANTS et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

THE GENE FOR HUMAN GAP JUNCTION PROTEIN CONNEXIN37 (GJA4) MAPS TO CHROMOSOME 1P35.1, IN THE VICINITY OF D1S195.

G VANCAMPPaul CouckeFranki SpelemanNadine Van RoyEC BEYERBA OOSTRAPJ WILLEMS

A1 Journal Article in GENOMICS

1991

Assignment of the fucosidase pseudogene FUCA1P to chromosome region 2q31→q32

Paul CouckeK MangelschotsFranki SpelemanP BossuytPatric Van OostveldtB Van der AuweraB CarrittPJ Willems

A1 Journal Article in CYTOGENETICS AND CELL GENETICS