Research Explorer

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Researcher

Bert Callewaert

178 Results

2022

Expanding the phenotype of B3GALNT2-related disorders

Erika D'haenensSarah VergultBjörn MentenAnnelies DheedeneR. Frank KooyBert Callewaert

A1 Journal Article in GENES

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Nancy VegasZeynep DemirChristopher T. GordonSylvain BretonVanessa L. Romanelli TavaresHugo MoissetRoseli Zechi‐CeideNancy M. Kokitsu‐NakataYasuhiro KidoSandrine MarlinSouad Gherbi HalemIlse MeerschautBert CallewaertBrian ChungNicole RevencuDaphné LehalleFlorence PetitEvan J. PropstBlake C. PapsinJohn H. PhillipsLinda JakobsenPauline Le TannoJulien ThévenonJulie McGaughranErica H. GerkesChiara LeoniPeter KroiselTiong Y. TanAlex HendersonPaulien TerhalLina Basel‐SalmonAdila AlkindySusan M. WhiteMaria R. Passos‐BuenoVéronique PingaultLoïc De PontualJeanne Amiel

A1 Journal Article in HUMAN MUTATION

LTBP4-related cutis laxa

Bert CallewaertZsolt Urban

Bookchapter in Gene reviews

MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects

Juliette CoursimaultAnne-Marie GuerrotMichelle M. MorrowCatherine SchrammFrancisca Millan ZamoraAnita ShanmughamShuxi LiuFanggeng ZouFrederic BilanGwenael Le GuyaderAnge-Line BruelAnne-Sophie Denomme-PichonLaurence FaivreFrederic Tran Mau-ThemMarine TessarechEstelle ColinSalima El ChehadehBenedicte GerardElise SchaeferBenjamin CogneBertrand IsidorMathilde NizonDiane DoummarStephanie ValenceDelphine HeronBoris KerenCyril MignotCharles CouttonFrancoise DevillardAnne-Sophie AlaixJeanne AmielLaurence ColleauxArnold MunnichKarine PoirierMarlene RioSophie RondeauGiulia BarciaBert CallewaertAnnelies DheedeneCandy KumpsSarah VergultBjörn MentenWendy K. ChungRebecca HernanAustin LarsonKelly NoriSarah StewartJames WhelessChristina KresgeBeth A. PletcherRoseline CaumesThomas SmolSabine SigaudyChristine CoubesMargaret HelmRosemarie SmithJennifer MorrisonPatricia G. WheelerAmy KritzerGuillaume JouretAlexandra AfenjarJean-Francois DeleuzeRobert OlasoAnne BolandChristine PoitouThierry FrebourgClaude HoudayerPascale Saugier-VeberGael NicolasFrancois Lecoquierre

A1 Journal Article in HUMAN GENETICS

Phenotypic and molecular heterogeneity in mandibulofacial dysostoses : a case series from India

Rathika D. ShenoyVikram ShettyAnnelies DheedeneBjörn MentenDechamma Pandyanda NanjappaGunimala ChakrabortyPatrick SipsAnne De PaepeBert CallewaertAnirban Chakraborty

A1 Journal Article in CLEFT PALATE-CRANIOFACIAL JOURNAL

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 VerlooArnaud VanlanderElke DebackereJody GhijselsPontus LeBlancHannah VerdinLeslie NaesensFilomeen HaerynckSteven CallensBart DermautBruce PoppeJan De BleeckerPatrick SantensPaul BoonGuy LaureysTessa Kerre[missing] for UD-PrOZA

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

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 CouckeDaniël De WolfBert Callewaert

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

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

Lore PottieChristin S. AdamoAude BeyensSteffen LütkePiyanoot TapaneeyaphanAdelbert De ClercqPhil L. SalmonRiet De RyckeAlper GezdiriciElif Yilmaz GulecNaz KhanJill E. UrquhartWilliam G. NewmanKay MetcalfeStephanie EfthymiouReza MaroofianNajwa AnwarShazia MaqboolFatima RahmanIkhlass AltweijriMonerah AlsalehSawsan Mohamed AbdullahMohammad Al-OwainMais HashemHenry HouldenFowzan S. AlkurayaPatrick SipsGerhard SengleBert Callewaert

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)

Lore PottieChristin S. AdamoAude BeyensSteffen LutkePiyanoot TapaneeyaphanAdelbert De ClercqPhil L. SalmonRiet De RyckeAlper GezdiriciElif Yilmaz GulecNaz KhanJill E. UrquhartWilliam G. NewmanKay MetcalfeStephanie EfthymiouReza MaroofianNajwa AnwarShazia MaqboolFatima RahmanIkhlass AltweijriMonerah AlsalehSawsan Mohamed AbdullahMohammad Al-OwainMais HashemHenry HouldenFowzan S. AlkurayaPatrick SipsGerhard SengleBert Callewaert

CRISPR-ing the gap between discovery and validation of candidate genes for neurodevelopmental disorders

Eva JacobsSarah VergultBert CallewaertBjörn Menten

Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis

Aude BeyensLore PottiePatrick SipsBert Callewaert

Bookchapter in Progress in Heritable Soft Connective Tissue Diseases

Clinical characteristics of Galloway-Mowat syndrome and mutations in the TPRKB gene

Lieselot PeremansBert CallewaertAnn RaesJohan Vande WalleJo DehoorneLien DosscheEvelien Snauwaertagnieszka Prytula

Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology

Aude BeyensAnnekatrien BoelSofie SymoensBert Callewaert

A1 Journal Article in CLINICAL GENETICS

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Theresa BrunetKirsty McWalterKatharina MayerhanserGrace M. AnboubaAmy Armstrong-JavorsIngrid BaderEvan BaughAmber BegtrupCaleb P. BuppBert CallewaertAnna CeredaMargot A. CousinJuan C. Del Rey JimenezLaurie DemmerNikita R. DsouzaNicole FleischerRalitza H. GavrilovaSumedha GhateElisabeth GrafAndrew GreenSarah R. GreenMaria IasconeAmeni KdissaDirk KleeEric W. KleeEmily LancasterKristin LindstromJohannes A. MayrMeriel McEntagartNaomi J. L. MeeksDana MittagHarrison MooreAnne K. OlsenDamara OrtizGretchen ParsonsLoren D. M. PenaRichard E. PersonSumit PunjGonzalo Alonso Ramos-RiveraMaria J. Guillen SacotoG. Bradley SchaeferRhonda E. SchnurTiana M. ScottDaryl A. ScottCarolyn R. SerbinskiVandana ShashiVictoria M. SiuBarbro Fossoy StadheimJennifer A. SullivanJana SvantnerovaLea VelsherDavid S. WargowskiIngrid M. WentzensenDagmar WieczorekJuliane WinkelmannPatrick YapMichael ZechMichael T. ZimmermannThomas MeitingerFelix DistelmaierMatias Wagner

A1 Journal Article in GENETICS IN MEDICINE

Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A

Alice LepelleyErika Della MinaErika Van NieuwenhoveLise WaumansSylvie FraitagGillian I. RiceAshish DhirMarie-Louise FremondMathieu P. RoderoLuis SeabraEdwin CarterChristine BodemerDaniela BuhasBert CallewaertPascale de LonlayLien De SomerDavid A. DymentFranny FaesLucy GroveSimon HoldenMarie HullyManju A. KurianHugh J. McMillanKristin SuetensHenna TyynismaaStephanie ChhunTimothy WaiCarine WoutersBrigitte Bader-MeunierYanick J. Crow

A1 Journal Article in JOURNAL OF EXPERIMENTAL MEDICINE

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants

Eva JacobsKathleen BrownMelissa C. BylerErika D'haenensAnnelies DheedeneLindsay B. HendersonJennifer B. HumbersonRichard H. JaarsveldFarah KananiRobert Roger LebelFrancisca MillanRenske OegemaAnna OostraMichael J. ParkerLindsay RhodesMargarita SaenzLaurie H. SeaverYue SiArnaud VanlanderSarah VergultBert Callewaert

A1 Journal Article in CLINICAL GENETICS

Expanding the phenotypic and molecular landscape of syndromic and isolated congenital heart defects : a future for phenotype-first and genotype-first approaches

Ilse MeerschautBert CallewaertDaniël De Wolf

Exploring cutis laxa syndromes in vitro and in vivo through zebrafish modeling : lessons learnt from recently and newly discovered disease-causing genes

Lore PottieBert CallewaertPatrick Sips

IQSEC2 disorder : a new disease entity or a Rett spectrum continuum?

Diego LopergoloFlavia PriviteraGiuseppe CastelloCaterina Lo RizzoMaria Antonietta MencarelliAnna Maria PintoFrancesca ArianiAurora CurròVittoria LamacchiaRoberto CanitanoElisabetta VaghiAlessandra FerrariniGerardo Mejia BaltodanoDamien LedererLionel Van MaldergemMercedes SerranoMercè PinedaMaria Del Carmen Fons‐EstupinaHilde Van EschJeroen BreckpotCandy KumpsBert CallewaertSabrina MuellerGian Paolo RamelliJudith ArmstrongAlessandra RenieriFrancesca Mari

A1 Journal Article in CLINICAL GENETICS

Isolated forearm mesomelic dysplasia caused by a genomic deletion encompassing the 2q31.1 HOXD gene cluster

Marlies ColmanMachteld BaetensOlivier VanakkerBert CallewaertDelfien SyxFransiska Malfait

Lack of resemblance between Myhre syndrome and other 'segmental progeroid' syndromes warrants restraint in applying this classification

Angela E. LinNicola Brunetti-PierriBert CallewaertValerie Cormier-DaireSofia DouzgouT. Bernard KinaneMark E. LindsayLois J. Starr

A1 Journal Article in GEROSCIENCE

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

Loss-of-function variants in EFEMP1 cause a recognizable connective tissue disorder characterized by cutis laxa and multiple herniations

Maxim VerleeAude BeyensAlper GezdiriciElif GulecLore PottieSilke De FeyterMichiel VanhooydonckPiyanoot TapaneeyaphanSofie SymoensBert Callewaert

A1 Journal Article in GENES

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement

Lucia MicaleSilvia MorlinoAnnalucia CarboneAnnamaria CarissimoGrazia NardellaCarmela FuscoOrazio PalumboAnnalisa SchirizziFederica RussoGianluigi MazzoccoliJeroen BreckpotChiara De LucaAlessandro FerrarisCecilia GiuntaPaola GrammaticoMaria K. HaanpääGiorgia MancanoGiulia ForzanoDavide CacchiarelliHilde Van EschBert CallewaertMarianne RohrbachMarco Castori

U Journal Article in Genetics in Medicine

Major response to adalimumab in patient with Sweet syndrome associated to an acquired cutis laxa

Pieter RosiersA. DerouxAude BeyensBert CallewaertM.‐T. Leccia

U Journal Article in Journal of the European Academy of Dermatology and Venereology

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

Dong LiMichael E. MarchPaola FortugnoLiza L. CoxLeticia S. MatsuokaRosanna MonettaChristoph SeilerLouise C. PyleEmma C. BedoukianMaría José Sánchez-SolerOana CaluseriuKatheryn GrandAllison TamAlicia R. P. AycinenaLetizia CamerotaYiran GuoPatrick SleimanBert CallewaertCandy KumpsAnnelies DheedeneMichael BuckleyEdwin P. KirkAnne TurnerBenjamin KamienChirag PatelMeredith WilsonTony RoscioliJohn ChristodoulouTimothy C. CoxElaine H. ZackaiFrancesco BrancatiHakon HakonarsonElizabeth J. Bhoj

A1 Journal Article in HUMAN GENETICS

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Madelyn A. GillentineTianyun WangKendra HoekzemaJill RosenfeldPengfei LiuHui GuoChang N. KimBert B. A. De VriesLisenka E. L. M. VissersMagnus NordenskjoldMalin KvarnungAnna LindstrandAnn NordgrenJozef GeczMaria IasconeAnna CeredaAgnese ScatignoSilvia MaitzGinevra ZanniEnrico BertiniChristiane ZweierSarah SchuhmannAntje WiesenerMicah PepperHeena PanjwaniErin TortiFarida AbidIrina AnselmSiddharth SrivastavaPaldeep AtwalCarlos A. BacinoGifty BhatKatherine CobianLynne M. BirdJennifer FriedmanMeredith S. WrightBert CallewaertFlorence PetitSophie MathieuAlexandra AfenjarCelenie K. ChristensenKerry M. WhiteOrly ElpelegItai BergerEdward J. EspineliChristina FagerbergCharlotte Brasch-AndersenLars Kjærsgaard HansenTimothy FeymaSusan HughesIsabelle ThiffaultBonnie SullivanShuang YanKory KellerBoris KerenCyril MignotFrank KooyMarije MeuwissenAlice BasingerMary KukolichMeredith PhilipsLucia OrtegaMargaret Drummond-BorgMathilde LauridsenKristina SorensenAnna LehmanElena Lopez-RangelPaul LevyDavor LesselTimothy LotzeSuneeta Madan-KhetarpalJessica SebastianJodie VentoDivya VatsL. Manace BenmanShane MckeeGhayda M. MirzaaCandace MussJohn PappasHilde PeetersCorrado RomanoMaurizio EliaOrnella GalesiMarleen E. H. SimonKoen L. I. van GassenKara SimpsonRobert StrattonSabeen SyedJulien ThevenonIrene Valenzuela PalafollAntonio VitobelloMarie BournezLaurence FaivreKun XiaRachel K. EarlTomasz NowakowskiRaphael A. BernierEvan E. Eichler[missing] SPARK Consortium

A1 Journal Article in GENOME MEDICINE

Severe congenital cutis laxa : Identification of novel homozygous LOX gene variants in two families

Fiona McKenzieKym MinaBert CallewaertAude BeyensJan E. DickinsonGareth JevonJohn PapadimitriouBirgitte Rode DinessJesper Norman SteensbergJakob EkGareth Baynam

A1 Journal Article in CLINICAL GENETICS

Structural variants disrupt a critical regulatory region downstream of FOXG1

Eva D'haeneLies VantommeBjörn MentenBert CallewaertElfride De BaereSarah Vergult

Two cases of DCDC2‐related neonatal sclerosing cholangitis with developmental delay and literature review

Hannes SyrynAnne HoorensTassos GrammatikopoulosMaesha DeheragodaSofie SymoensSaskia Vande VeldeStephanie Van BiervlietMyriam Van WinckelPatrick VerlooBert CallewaertRuth De Bruyne

A1 Journal Article in CLINICAL GENETICS

ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder

Stephanie OatesMichael AbsoudSushma GoyalSophie BayleyJennifer BaulcombAnnemarie SimsAmy RiddettKatrina AllisCharlotte Brasch-AndersenMeena BalasubramanianRenkui BaiBert CallewaertUlrike HueffmeierDiana Le DucMaximilian RadtkeChristian KorffJoanna KennedyKaren LowRikke S. MollerJens Erik Klint NielsenBernt PoppLina QuteinehGitte RondeBitten Schoenewolf-GreulichAmelle ShillingtonMatthew R. G. TaylorEmily ToddPernille M. TorringZeynep TuemerGeorgia VasileiouT. Michael YatesChristiane ZweierRichard RoschM. Albert BassonDeb K. Pal

A1 Journal Article in CLINICAL GENETICS

2020

A clinical scoring system for congenital contractural arachnodactyly

Ilse MeerschautShana De ConinckWouter SteyaertAngela BarnicoatAllan BayatFrancesco BenedicentiSiren BerlandEdward M. BlairJeroen BreckpotAnna de BurcaAnne DestréeSixto García-MiñaúrAndrew J. GreenBernadette C. HannaKathelijn KeymolenMarije KoopmansDamien LedererMelissa LeesCheryl LongmanSally Ann LynchAlison M. MaleFiona McKenzieIsabelle MigeotteErcan MihciBanu NurFlorence PetitJuliette PiardFrank PlasschaertAnita RauchPascale RibaïIratxe Salcedo PachecoFranco StanzialIrene Stolte-DijkstraIrene ValenzuelaVinod VarghesePradeep C. VasudevanEmma WakelingCarina Wallgren-PetterssonPaul CouckeAnne De PaepeDaniël De WolfSofie SymoensBert Callewaert

A1 Journal Article in GENETICS IN MEDICINE

A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix

Stylianos Z KarouliasAude BeyensZerina BalicSofie SymoensAnthony VandersteenAndrea L RideoutJohn DickinsonBert CallewaertDirk Hubmacher

A1 Journal Article in MATRIX BIOLOGY

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

Gabriella VeraArthur SorlinGeoffroy DelplancqFrançois LecoquierreMarie Brasseur-DaudruyFlorence PetitThomas SmolAlban ZieglerDominique BonneauEstelle ColinSandra MercierBenjamin CognéStéphane BézieauPatrick EderyGaetan LescaNicolas ChatronIsabelle SabatierBénédicte Duban-BeduCindy ColsonAmélie PitonBenjamin DurandYline CapriLaurence PerrinAntje WiesenerChristiane ZweierReza MaroofianChristopher J. CarrollHamid GalehdariNeda MazaheriBert CallewaertFabienne GiuliannoKhaoula Zaafrane-KhachnaouiRebecca Buchert-LoTobias HaackJanine MaggAngelika RießMaria BlandfortStephan WaldmüllerVeronka HorberEmanuela LeonardiRoberta PolliLicia TurollaAlessandra MurgiaThierry FrebourgAnne Sophie LebreGaël NicolasPascale Saugier-VeberAnne-Marie Guerrot

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

Kezhi YanJustine RousseauKeren MacholLaura A. CrossKatherine E. AgreCynthia Forster GibsonAnne GoverdeKendra L. EnglemanHannah VerdinElfride De BaereLorraine PotockiDihong ZhouMaxime Cadieux-DionGary A. BellusMonisa D. WagnerRebecca J. HaleNatacha EsberAlan F. RileyBenjamin D. SolomonMegan T. ChoKirsty McWalterRoy EyalMeagan K. HainlenBryce A. MendelsohnHillary M. PorterBrendan C. LanpherAndrea M. LewisJuliann SavattIsabelle ThiffaultBert CallewaertPhilippe M. CampeauXiang-Jiao Yang

A1 Journal Article in SCIENCE ADVANCES

Disproportion and dysmorphism in an adult Belgian population with Turner syndrome : risk factors for chronic diseases?

An-Sofie Van de KelftCharlotte LievensKatya De GrooteLaurent DemulierJulie De BackerGuy T'SjoenMargarita CraenBert CallewaertJean De Schepper

A1 Journal Article in ACTA CLINICA BELGICA

Genetics in congenital heart disease : are we ready for it?

Julie De BackerBert CallewaertLaura Muiño Mosquera

A2 Journal Article in REVISTA ESPAÑOLA DE CARDIOLOGÍA (ENGLISH ED.)

Genética en la cardiopatía congénita : ¿estamos preparados?

Julie De BackerBert CallewaertLaura Muiño Mosquera

A1 Journal Article in REVISTA ESPANOLA DE CARDIOLOGIA

Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia

Aude BeyensC. AdamoE. Yilmaz GulecA. GezdiriciP. BonaldoH. BornaunE. BrauchleJ. BrinckmannW. P. DevineB. GangaramT. SasakiK. SchenkelaylandSofie SymoensA. TamG. SengleBert Callewaert

Lessons learned from 40 novel PIGA patients and a review of the literature

Allan BayatAlexej KnausManuela PendziwiatAlexandra AfenjarTahsin Stefan BarakatFriedrich BoschBert CallewaertPatrick CalvasBerten CeulemansNicolas ChassaingChristel DepienneMilda EndzinieneCarlos R. FerreiraCarolina Fischinger Moura de SouzaCécile FreihuberShiva GanesanSvetlana GataullinaRenzo GuerriniAnne‐Marie GuerrotLars HansenAleksandra Jezela‐StanekCaroline KarsentyAnneke KievitFrank R. KooyChristian M. KorffJohanne Kragh HansenMartin LarsenValérie LayetGaetan LescaKim L. McBrideMarije MeuwissenCyril MignotMartino MontomoliHannah MooreSophie NaudionCaroline NavaMarie‐Christine NouguesElena ParriniMatthew PastoreJurgen H. SchelhaasSteven SkinnerKrzysztoł SzczałubaAshley ThomasMads ThomassenLisbeth TranebjærgMarjon SlegtenhorstLynne A. WolfeDennis LalElena GardellaLilian Bomme OusagerTobias BrüngerIngo HelbigPeter KrawitzRikke S. Møller

A1 Journal Article in EPILEPSIA

Mowat-Wilson syndrome : growth charts

Ivan IvanovskiOlivera DjuricSerena BroccoliStefano Giuseppe CaraffiPatrizia AccorsiMargaret P. AdamKristina AvelaMagdalena Badura-StronkaAllan BayatJill Clayton-SmithIsabella CoccoDuccio Maria CordelliGoran CuturiloVeronica Di PisaJuliette Dupont GarciaRoberto GastaldiLucio GiordanoAndrea GualaChristina Hoei-HansenMie InabaAlessandro IodiceJens Erik Klint NielsenVladimir KuburovicBrissia Lazalde-MedinaBaris MalboraSeiji MizunoOana MoldovanRikke S. MøllerPetra MuschkeValeria OtelliChiara PantaleoniCarmelo PiscopoMaria Luisa Poch-OliveIgor PrpicPurificación Marín ReinaFederico RaviglioneEmilia RicciEmanuela ScaranoGraziella SimonteRobert SmigielGeorge TantelesLuigi TaraniAurelien TrimouilleElvis Terci ValeraSamantha Schrier VerganoKarin WritzlBert CallewaertSalvatore SavastaMaria Elisabeth StreetLorenzo IughettiSergio BernasconiPaolo Giorgi RossiLivia Garavelli

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

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. LefeberDelfien SyxWouter SteyaertRiet De RyckeAlexander HoischenErik-Jan KamsteegSunnie Y. WongMonique van ScherpenzeelPayman JamaliUlrich BrandtLeo NijtmansG. Christoph KorenkeBrian H. Y. ChungChristopher C. Y. MakIngrid HausserUwe KornakBjorn Fischer-ZirnsakTim M. StromThomas MeitingerYasemin AlanayGulen E. UtineKai Ching Peter LeungSiavash Ghaderi-SohiPaul CouckeSofie SymoensAnne De PaepeChristian ThielTobias B. HaackFransiska MalfaitEva MoravaBert CallewaertRon A. Wevers

Mutations in LTBP1 cause autosomal recessive cutis laxa syndrome

Lore PottieAlper GezdiriciChristin AdamoWilliam NewmanAude BeyensRiet De RyckeAdelbert De ClercqPatrick SipsGerhard SengleBert Callewaert

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

Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa

Miski MohamedThatjana GardeitchikShanti BalasubramaniamSergio Guerrero‐CastilloDaisy DalloyauxSanne KraaijHanka VenselaarAlexander HoischenZsolt UrbanUlrich BrandtRaya Al‐ShawiJ. Paul SimonsMichele FrisonLock‐Hock NguBert CallewaertHans SpelbrinkWouter W. KallemeijnJohannes M. F. G. AertsMark G. WaughEva MoravaRon A. Wevers

A1 Journal Article in JOURNAL OF INHERITED METABOLIC DISEASE

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome

Viviana CordedduErica L. MackeFrancesca Clementina RadioStefania Lo CiceroFrancesca PantaleoniMassimo TattiEmanuele BellacchioAndrea CiolfiEmanuele AgoliniAlessandro BrusellesNicola Brunetti‐PierriMohnish SuriKatherine S. JosephsMeriel McEntagartBrendan LanpherKatherine C. NickelsAndrea HaworthLaura ReedGerarda CappuccioIsabella MammiJessica M. TarnowskiAntonio NovelliDaniela MelisBert CallewaertBruno DallapiccolaEric KleeMarco Tartaglia[missing] Deciphering Developmental Disorders Study

A1 Journal Article in CLINICAL GENETICS

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 VanhoveIngrid van der PluijmPaul CouckeAndy WillaertJeroen EssersBert Callewaert

A1 Journal Article in HUMAN MOLECULAR GENETICS

ZMYND11-related syndromic intellectual disability : 16 patients delineating and expanding the phenotypic spectrum

Thabo M. YatesMorgan DruckerAngela BarnicoatKaren LowErica H. GerkesAndrew E. FryMichael J. ParkerMary O'DriscollPerrine CharlesHelen CoxIsabelle MareyBoris KerenTuula RinneMeriel McEntagartVijaya RamachandranSuzanne DruryFleur VansenneDeborah A. SivalJohanna C. HerkertBert CallewaertWen-Hann TanMeena Balasubramanian

A1 Journal Article in HUMAN MUTATION

2019

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)

Eva JacobsSarah VergultMaria Palomares BraroSixto Garcia-MinaurS. Simmaro FernandoT. Duelund HjortshøjM. GérardA. MolinP. Villavicencio-LoriniJ. KöhlhaseK. HoffmannM. BauerHilde PeetersP. AerssensNicole RevencuP. LysyP. TorringK. SorensenCarlo MarcelisLot Snijders-BlokAnnelies DheedeneBjörn MentenBert Callewaert

ATP6V0A2-related cutis laxa in 10 novel patients : focus on clinical variability and expansion of the phenotype

Aude BeyensEster Moreno-ArteroChristine BodemerHelen CoxAlper GezdiriciElif Yilmaz GulecNajoua KahloulPhilippe Khau Van KienGonul OgurAnnie HarrocheMarc VasseAicha SalhiSofie SymoensSmail Hadj-RabiaBert Callewaert

A1 Journal Article in EXPERIMENTAL DERMATOLOGY

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 CanhamErgun CilPaul CouckeMargot A. CousinMajed DasoukiJulie De BackerAnne De PaepeSofie De SchepperDeepthi De SilvaKoenraad DevriendtInge De WandeleDavid R. DeyleHarry DietzSophie Dupuis-GirodEudice FontenotBjörn Fischer-ZirnsakAlper GezdiriciJamal GhoumidFabienne GiulianoNeus BaenaMohammed Z. HaiderJoshua S. HardinXavier JeunemaitreEric W. KleeUwe KornakManuel F. LandechoAnne LegrandBart LoeysStanislas LyonnetHelen MichaelPamela MoceriShehla MohammedLaura Muiño-MosqueraSheela NampoothiriKarin PichlerKatrina PrescottAnna RajebMaria Ramos-ArroyoMassimiliano RossiMustafa SalihMohammed Z. SeidahmedElise SchaeferElisabeth Steichen-GersdorfSehime TemelFahrettin UysalMarine VanhomwegenLut Van LaerLionel Van MaldergemDavid WarnerAndy WillaertTom R. Collins IIAndrea TaylorElaine C. DavisYuri ZarateBert Callewaert

De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism

Illja J DietsRoos van der DonkKristina BaltrunaiteEsmé WaandersMargot RF ReijndersAlexander JM DingemansRolph PfundtAnneke T Vulto-van SilfhoutLaurens WielChristian GilissenJulien ThevenonLaurence PerrinAlexandra AfenjarCaroline NavaBoris KerenSarah BartzBethany PeriGea BeundersNienke VerbeekKoen van GassenIsabelle ThiffaultMaxime Cadieux-DionLina Huerta-SaenzMatias WagnerVassiliki KonstantopoulouJulia VodopiutzMatthias GrieseAnnekatrien BoelBert CallewaertHan G BrunnerTjitske KleefstraNicoline HoogerbruggeBert BA de VriesVivian HwaAndrew DauberJayne Y Hehir-KwaRoland P KuiperMarjolijn CJ Jongmans

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Gregory CostainBert CallewaertHeinz GabrielTiong Y TanSusan WalkerJohn ChristodoulouTamas LazarBjörn MentenJulia OrkinSimon SadedinMeaghan SnellArnaud VanlanderSarah VergultSusan M WhiteStephen W SchererRobin Z HayeemsSusan BlaserShoshana J WodakDavid ChitayatChristian R MarshallM Stephen Meyn

A1 Journal Article in GENETICS IN MEDICINE

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 ColombiGábor BánhegyiÉva Margittai

A1 Journal Article in OXIDATIVE MEDICINE AND CELLULAR LONGEVITY

Defining the clinical, molecular and ultrastructural characteristics in occipital horn syndrome : two new cases and review of the literature

Aude BeyensKyaran Van MeenselLore PottieRiet De RyckeMichiel De BruyneFemke BaekePiet HoebekeFrank PlasschaertBart LoeysSofie De SchepperSofie SymoensBert Callewaert

A1 Journal Article in GENES

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

Osama EssawiPaul CouckeBert CallewaertTamer Essawi

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

Mutation update for the SATB2 gene

Yuri A. ZarateKatherine A. BosankoAisling R. CaffreyJonathan A. BernsteinDonna M. MartinMarc S. WilliamsElizabeth M. Berry-KravisPaul R. MarkMelanie A. ManningVikas BhambhaniMarcelo VargasAndrea H. SeeleyI Estrada-Veras, JuvianeeMarieke F. vanDoorenMaria SchwabAdeline VanderverDaniela MelisAdnan AlsadahLaurie SadlerHilde Van EschBert CallewaertAnn OostraJane MacleanMaria Lisa DenticiValeria OrlandoMark LipsonSteven P. SparaganaTimothy J. MaarupSuzanne I. M. AlstersAriel BrautbarEliana KovitchSakkubai NaiduMelissa LeesDouglas M. SmithLesley TurnerVictor RaggioLucia SpangenbergSixto Garcia-MinaurElizabeth R. RoederRebecca O. LittlejohnDorothy GrangeJean PfotenhauerMarilyn C. JonesMeena BalasubramanianAntonio Martinez-MonsenyLot Snijders BlokRalitza GavrilovaJennifer L. Fish

A1 Journal Article in HUMAN MUTATION

Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum

Ilse MeerschautAude BeyensWouter SteyaertRiet De RyckeKatrien BonteTine De BackerSandra JanssensJoseph PanzerFrank PlasschaertDaniël De WolfBert Callewaert

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Non-invasive prenatal testing (NIPT) : how to handle secondary findings of maternal chromosomal abnormalities

Machteld BaetensTom SanteSarah VergultM. De SmetS. JanssensOlivier VanakkerBert CallewaertBruce PoppeAnnelies DheedeneBjörn Menten

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

Nurit Assia BatzirPranjali Kishor BhagwatAustin LarsonZeynep Coban AkdemirMaciej BaglajLeon BofferdingKatherine B. BosankoSkander BouassidaBert CallewaertAshley CannonYazmin Enchautegui ColonAdolfo D. GarnicaMargaret H. HarrSandra HeckAnna C. E. HurstShalini N. JhangianiBertrand IsidorRebecca O. LittlejohnPengfei LiuPilar MagoulasHelen Mar FanRonit MaromScott McLeanMarjan M. NezaratiKimberly M. NugentMichael B. PetersenMaria L. RochaElizabeth RoederRobert SmigielIan TullyJames Weisfeld-AdamsKaterina O. WellsJennifer E. PoseyJames R. LupskiArthur L. BeaudetMichael F. Wangler

A1 Journal Article in HUMAN MUTATION

SMAD3 pathogenic variants : risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium

Ellen M HostetlerEllen S RegaladoDong-Chuan GuoNadine HannaPauline ArnaudLaura Muiño MosqueraBert CallewaertKwanghyuk LeeSuzanne M LealStephanie E WallaceAndrea L RideoutSarah DyackRajani D AatreCatherine BoileauJulie De BackerGuillaume JondeauDianna M Milewicz

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

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 PanzerFrank PlasschaertPaul CouckeDaniël De WolfBert Callewaert

2018

A mutant ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome

Lore PottiePatrick SipsPaul CouckeBert Callewaert

ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome

Lore PottiePatrick SipsPaul CouckeBert Callewaert

Arterial tortuosity syndrome : 40 new families and literature review

Aude BeyensJuliette AlbuissonAnnekatrien BoelMazen Al-EssaWaheed Al-ManeaDamien BonnetOzlem BostanOdile BouteTiffany BusaNathalie CanhamErgun CilPaul CouckeMargot A CousinMajed DasoukiJulie De BackerAnne De PaepeSofie De SchepperDeepthi De SilvaKoenraad DevriendtInge De WandeleDavid R DeyleHarry DietzSophie Dupuis-GirodEudice FontenotBjörn Fischer-ZirnsakAlper GezdiriciJamal GhoumidFabienne GiulianoNeus BaenaMohammed Z HaiderJoshua S HardinXavier JeunemaitreEric W KleeUwe KornakManuel F LandechoAnne LegrandBart LoeysStanislas LyonnetHelen MichaelPamela MoceriShehla MohammedLaura Muiño MosqueraSheela NampoothiriKarin PichlerKatrina PrescottAnna RajebMaria Ramos-ArroyoMassimiliano RossiMustafa SalihMohammed Z SeidahmedElise SchaeferElisabeth Steichen-GersdorfSehime TemelFahrettin UysalMarine VanhomwegenLut Van LaerLionel Van MaldergemDavid WarnerAndy WillaertTom R CollinsAndrea TaylorElaine C DavisYuri ZarateBert Callewaert

A1 Journal Article in GENETICS IN MEDICINE

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

Clinical validity of genes for heritable thoracic aortic aneurysm and dissection

Marjolijn RenardCatherine FrancisRajarshi GhoshAlan F ScottP Dane WitmerLesley C AdèsGregor U AndelfingerPauline ArnaudCatherine BoileauBert CallewaertDongchuan GuoNadine HannaMark E LindsayHiroko MorisakiTakayuki MorisakiNicholas PachterLeema RobertLut Van LaerHarry C DietzBart L LoeysDianna M MilewiczJulie De Backer

A1 Journal Article in JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Clinicopathological findings in cutis laxa syndromes

Aude BeyensSofie De SchepperBert Callewaert

De gevolgen van FOXP1-mutaties : meer dan verstandelijke beperking en taalontwikkelingsstoornissen alleen

Ilse MeerschautBert Callewaert

A4 Journal Article in NEURON (NEDERLANDSE ED.)

Delineation of a clinical scoring system and diagnostic criteria for CCA

Ilse MeerschautShana De ConinckAnnelies MatthysBjorn TuytensWouter SteyaertDaniël De WolfFrank PlasschaertPaul CouckeAnne De PaepeSofie SymoensBert Callewaert

Diagnosis of multiple endocrine neoplasia type 2B and management of its ocular features

Elke O. KrepsIsabelle Van HerzeeleBert Callewaert

A1 Journal Article in OPHTHALMIC GENETICS

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 MalfaitPaul Coucke

A1 Journal Article in MOLECULAR GENETICS & GENOMIC MEDICINE

Ophthalmic findings in patients with arterial tortuosity syndrome and carriers : a case series

Joshua S HardinYuri A ZarateBert CallewaertPaul H PhillipsDavid B Warner

A1 Journal Article in OPHTHALMIC GENETICS

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Ivan IvanovskiOlivera DjuricStefano Giuseppe CaraffiDaniela SantodiroccoMarzia PollazzonSimonetta RosatoDuccio Maria CordelliEbtesam AbdallaPatrizia AccorsiMargaret P AdamPaola Francesca AjmoneMagdalena Badura-StronkaChiara BaldoMaddalena BaldiAllan BayatStefania BigoniFederico BonviciniJeroen BreckpotBert CallewaertGuido CocchiGoran CuturiloDaniele De BrasiKoenraad DevriendtMary Beth DinulosTina Duelund HjortshøjRoberta EpifanioFrancesca FaravelliAgata FiumaraDebora FormisanoLucio GiordanoMarina GrassoSabine GrønborgAlessandro IodiceLorenzo IughettiVladimir KuburovicAnna Kutkowska-KazmierczakDidier LacombeCaterina Lo RizzoAnna LuchettiBaris MalboraIsabella MammiFrancesca MariGiulia MontorsiSebastien MouttonRikke S MøllerPetra MuschkeJens Erik Klint NielsenEwa ObersztynChiara PantaleoniAlessandro PellicciariMaria Antonietta PisantiIgor PrpicMaria Luisa Poch-OliveFederico RaviglioneAlessandra RenieriEmilia RicciFrancesca RivieriGijs W SantenSalvatore SavastaGioacchino ScaranoIna SchanzeAngelo SelicorniMargherita SilengoRobert SmigielLuigina SpacciniGiovanni SorgeKrzysztof SzczalubaLuigi TaraniLuis Gonzaga ToneAnnick ToutainAurelien TrimouilleElvis Terci ValeraSamantha Schrier VerganoNicoletta ZanottaMartin ZenkerAndrea ConidiMarcella ZollinoAnita RauchChristiane ZweierLivia Garavelli

A1 Journal Article in GENETICS IN MEDICINE

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 RenardJulie De Backer

A1 Journal Article in CIRCULATION-GENOMIC AND PRECISION MEDICINE

Ultrastructural elastic fiber morphology in cutis laxa reflects the underlying pathogenesis and supports a novel clinical classification

Aude BeyensRiet De RyckeHannes SyrynBjörn Fischer-ZirnsakTim Van DammeIngrid HausserMichiel De BruyneManrico MorroniS NampoothiriK. MaheshUwe KornakSmail Hadj-RabiaChristine BodemerSofie De SchepperElaine C DavisBert Callewaert

2017

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

ACTB loss-of-function mutations result in a pleiotropic developmental disorder

Sara CuvertinoHelen M StuartKate E ChandlerNeil A RobertsRuth ArmstrongLaura BernardiniSanjeev BhaskarBert CallewaertJill Clayton-SmithCristina Hernando DavalilloCharu DeshpandeKoenraad DevriendtMaria C DigilioAbhijit DixitMatthew EdwardsJan M FriedmanAntonio Gonzalez-MenesesShelagh JossBronwyn KerrAnne Katrin LampeSylvie LangloisRachel LennonPhilippe LogetDavid YT MaRuth McGowanMaryse Des MedtJames O'SullivanSylvie OdentMichael J ParkerCeline Pebrel-RichardFlorence PetitZornitza StarkSylvia Stockler-IpsirogluSigrid TinschertPradeep VasudevanOlaya VillaSusan M WhiteFarah R ZahirAdrian S WoolfSiddharth Banka

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Arterial tortuosity syndrome : 37 new families and literature review

Aude BeyensJuliette AlbuissonT BusaN CanhamJM ChopinM DasoukiK DevriendtH DietzBjörn Fischer-ZirnsakAlper GezdiriciF GiulianoM GuitartMZ Seid AhmedE SchaeferE Steichen-GersdorfLionel Van MalderghemDavid WarnerM ZaiderAnne De PaepeLaura Muiño MosqueraJulie De BackerAnnekatrien BoelAndy WillaertPaul CouckeAndrea TaylorElaine C DavisYuri ZarateBert Callewaert

Arterial tortuosity syndrome : 40 new families and literature review

Aude BeyensJuliette AlbuissonAnnekatrien BoelMazen Al-EssaDamien BonnetO BostanOdile BouteT BusaN CanhamErgun CilPaul CouckeMargot A CousinM DasoukiJulie De BackerAnne De PaepeSofie De SchepperDeepthi De SilvaKoen DevriendtInge De WandeleDavid R DeyleH DietzS Dupuis-GirodE FontenotBjörn Fischer-ZirnsakAlper GezdiriciJ GhoumidF GiulianoM GuitartMZ HaiderJS HardinXavier JeunemaitreEric W KleeUwe KornakMF LandechoA LegrandBart LoeysS LyonnetHelen MichaelPamela MoceriS MohammedLaura Muiño MosqueraS NampoothiriK PichlerK PrescottAnna RajebM Ramos-ArroyoM RossiM SalihMZ Seid AhmedE SchaeferE Steichen-GersdorfSehime TemelFahrettin UysalMarine VanhomwegenLut Van LaerLionel Van MalderghemDavid WarnerAndy WillaertTom CollinsAndrea TaylorElaine C DavisYuri ZarateBert Callewaert

Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability

Ruben Van PaemelPauline De BruyneSaskia van der StraatenMarleen D'HondtUrlien FränkelAnnelies DheedeneBjörn MentenBert Callewaert

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI DaliS LynchE BlairA CollinsV LaitinenE ThomasA MaleI Stolte-DijkstraK KeymolenL CherylD YadavF MckenzieS BerlandP WillemsA TopaF PetitA DestreeJulie De BackerPaul CouckeAnne De PaepeSofie SymoensBert Callewaert

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI DaliS LynchE BlairA CollinsV LaitinenE ThomasA MaleI Stolte-DijkstraK KeymolenL CherylD YadavF MckenzieS BerlandP WillemsA TopaF PetitA DestreeJulie De BackerPaul CouckeAnne De PaepeSofie SymoensBert Callewaert

FOXP1-related intellectual disability syndrome : a recognisable entity

Ilse MeerschautDaniel RochefortNicole RevençuJustine PètreChristina CorselloGuy A RouleauFadi F HamdanJacques L MichaudJenny MortonJessica RadleyNicola RaggeSixto García-MiñaúrPablo LapunzinaMaria Palomares BraloMaria Ángeles MoriStéphanie MoortgatValérie BenoitSandrine MaryNELE BOCKAERTAnn OostraOlivier VanakkerMilen VelinovThomy JL de RavelDjalila MekahliJonathan SebatKeith K VauxNataliya DiDonatoAndrea K Hanson-KahnLouanne HudginsBruno DallapiccolaAntonio NovelliLuigi TaraniJoris AndrieuxMichael J ParkerKatherine NeasBerten CeulemansAn-Sofie SchoonjansDarina PrchalovaMarketa HavlovicovaMiroslava HancarovaMagdalena BudisteanuAnnelies DheedeneBjörn MentenPatrick A DionDamien LedererBert Callewaert

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Fibromuscular dysplasia : results of a multicentre study in Flanders

Marie De GrootePatricia Van der NiepenDimitri HemelsoetBert CallewaertFrank VermassenJean-Marie BilliouwAn De VrieseJan DonckTine De Backer

A1 Journal Article in VASA-EUROPEAN JOURNAL OF VASCULAR MEDICINE

Fibromuscular dysplasia : results of a multicentre study in Flanders

Marie De GrooteDimitri HemelsoetPatricia Van der NiepenBert CallewaertFrank VermassenJean-Marie BilliouwAn De VrieseJan DonckTine De Backer

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 WillaertBert CallewaertPaul CouckeAngiolo BenedettiÉva MargittaiRosella FulceriGábor BánhegyiMarina Colombi

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces

PF SinnigeCMA van Ravenswaaij-ArtsP CarusoAE LinM BoonE RahikkalaBert CallewaertLC Meiners

A1 Journal Article in EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa

Tim Van DammeThatjana GardeitchikMiski MohamedSergio Guerrero-CastilloPeter FreisingerBrecht GuillemynAriana KariminejadDaisy DalloyauxSanne van KraaijDirk J LefeberDelfien SyxWouter SteyaertRiet De RyckeAlexander HoischenErik-Jan KamsteegSunnie Y WongMonique van ScherpenzeelPayman JamaliUlrich BrandtLeo NijtmansG Christoph KorenkeBrian HY ChungChristopher CY MakIngrid HausserUwe KornakBjörn Fischer-ZirnsakTim M StromThomas MeitingerYasemin AlanayGulen E UtinePeter KC LeungSiavash Ghaderi-SohiPaul CouckeSofie SymoensAnne De PaepeChristian ThielTobias B HaackFransiska MalfaitEva MoravaBert CallewaertRon A Wevers

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A BraunJia RaoGeraldine MolletDavid SchapiroMarie-Claire DaugeronWeizhen TanOlivier GribouvalOlivia BoyerPatrick RevyTilman Jobst-SchwanJohanna Magdalena SchmidtJennifer A LawsonDenny SchanzeShazia AshrafJeremy F P UllmannCharlotte A HoogstratenNathalie BoddaertBruno CollinetGaëlle MartinDominique LigerSvjetlana LovricMonica FurlanoI Chiara GuerreraOraly Sanchez-FerrasJennifer F HuAnne-Claire BoschatSylvia SanquerBjörn MentenSarah VergultNina De RockerMerlin AirikTobias HermleShirlee ShrilEugen WidmeierHeon Yung GeeWon-Il ChoiCarolin E SadowskiWerner L PabstJillian K WarejkoAnkana DagaTamara BastaVerena MatejasKarin ScharmannSandra D KienastBabak BehnamBrendan BeesonAmber BegtrupMalcolm BruceGaik-Siew Ch'ngShuan-Pei LinJui-Hsing ChangChao-Huei ChenMegan T ChoPatrick M GaffneyPatrick E GipsonChyong-Hsin HsuJameela A KariYu-Yuan KeCathy Kiraly-BorriWai-ming LaiEmmanuelle LemyreRebecca Okashah LittlejohnAmira MasriMastaneh MoghtaderiKazuyuki NakamuraFatih OzaltinMarleen PraetChitra PrasadAgnieszka Prytula-EbelsElizabeth R RoederPatrick RumpRhonda E SchnurTakashi ShiiharaManish D SinhaNeveen A SolimanKenza SoulamiDavid A SweetserWen-Hui TsaiJeng-Daw TsaiRezan TopalogluUdo VesterDavid H ViskochilNithiwat VatanavicharnJessica L WaxlerKlaas J WierengaMatthias T F WolfSik-Nin WongSebastian A LeidelGessica TruglioPeter C DedonAnnapurna PoduriShrikant ManeRichard P LiftonMaxime BouchardPeter KannuDavid ChitayatDaniella MagenBert CallewaertHerman van TilbeurghMartin ZenkerCorinne AntignacFriedhelm Hildebrandt

A1 Journal Article in NATURE GENETICS

Myhre syndrome : broadening the phenotypic spectrum

Ilse MeerschautSandra JanssensWouter SteyaertJoseph PanzerKatrien FrancoisFrank PlasschaertKatrien BonteTine De BackerPaul CouckeDaniël De WolfBert Callewaert

Myhre syndrome : broadening the phenotypic spectrum

Ilse MeerschautSandra JanssensWouter SteyaertJoseph PanzerKatrien FrançoisFrank PlasschaertKatrien BonteTine De BackerPaul CouckeDaniël De WolfBert Callewaert

NR4A2 causes an autism spectrum disorder

Helene VerhelstPatrick VerlooAnnelies DheedeneBert CallewaertBjörn Menten

Neuroimaging findings in Mowat-Wilson syndrome : a study of 54 patients

Livia GaravelliIvan IvanovskiStefano Giuseppe CaraffiDaniela SantodiroccoMarzia PollazzonDuccio Maria CordelliEbtesam AbdallaPatrizia AccorsiMargaret P AdamChiara BaldoAllan BayatElga BelligniFederico BonviciniJeroen BreckpotBert CallewaertGuido CocchiGoran CuturiloKoenraad DevriendtMary Beth DinulosOlivera DjuricRoberta EpifanioFrancesca FaravelliDebora FormisanoLucio GiordanoMarina GrassoSabine GrønborgAlessandro IodiceLorenzo IughettiDidier LacombeMassimo MaggiBaris MalboraIsabella MammiSebastien MouttonRikke MøllerPetra MuschkeManuela NapoliChiara PantaleoniRosario PascarellaAlessandro PellicciariMaria Luisa Poch-OliveFederico RaviglioneFrancesca RivieriCarmela RussoSalvatore SavastaGioacchino ScaranoAngelo SelicorniMargherita SilengoGiovanni SorgeLuigi TaraniLuis Gonzaga ToneAnnick ToutainAurelien TrimouilleElvis Terci ValeraSamantha Schrier VerganoNicoletta ZanottaMarcella ZollinoWilliam B DobynsAlex R Paciorkowski

A1 Journal Article in GENETICS IN MEDICINE

Small patella syndrome : new clinical and molecular insights into a consistent phenotype

C VanlerbergheA-S JourdainA DieuxA ToutainBert CallewaertS Dupuis-GirodS UngerM WrightB IsidorJ GhoumidF PetitN BoutryF EscandeS Manouvrier-Hanu

A1 Journal Article in CLINICAL GENETICS

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire RedinHarrison BrandRyan L CollinsTammy KamminElyse MitchellJennelle C HodgeCarrie HanscomVamsee PillalamarriCatarina M SeabraMary-Alice AbbottOmar A Abdul-RahmanErika AbergRhett AdleySofia L Alcaraz-EstradaFowzan S AlkurayaYu AnMary-Anne AndersonCaroline AntolikKwame Anyane-YeboaJoan F AtkinTina BartellJonathan A BernsteinElizabeth BeyerIan BlumenthalErnie MHF BongersEva H BrilstraChester W BrownHennie T BruggenwirthBert CallewaertColby ChiangKen CorningHelen CoxEdwin CuppenBenjamin B CurrallTom CushingDezso DavidMatthew A DeardorffAnnelies DheedeneMarc D'HoogheBert BA de VriesDawn L EarlHeather L FergusonHeather FisherDavid R FitzPatrickPamela GerrolDaniela GiachinoJoseph T. GlessnerTroy GliemMargo GradyBrett H GrahamCristin GriffisKaren W GrippAndrea L GropmanAndrea Hanson-KahnDavid J HarrisMark A HaydenRosamund HillRon HochstenbachJodi D HoffmanRobert J HopkinMonika W HubshmanA Micheil InnesMira IronsMelita IrvingJessie C JacobsenSandra JanssensTamison JewettJohn P JohnsonMarjolijn C JongmansStephen G KahlerDavid A KoolenJerome KorzeliusPeter M KroiselYves LacassieWilliam LawlessEmmanuelle LemyreKathleen LeppigAlex V LevinHaibo LiHong LiEric C LiaoCynthia LimEdward J LoseDiane LucenteMichael J MaceraPoornima ManavalanGiorgia MandrileCarlo L MarcelisLauren MargolinTamara MasonDiane Masser-FryeMichael W McClellanCinthya J Zepeda MendozaBjörn MentenSjors MiddelkampLiya R MikamiEmily MoeShehla MohammedTarja MononenMegan E MortensonGraciela MoyaAggie W NieuwintZehra OrduluSandhya ParkashSusan P PaukerShahrin PereiraDanielle PerrinKaty PhelanRaul E Pina AguilarPino J PoddigheGiulia PregnoSalmo RaskinLinda ReisWilliam RheadDebra RitaIvo RenkensFilip RoelensJayla RulieraPatrick RumpSamantha LP SchilitRanad ShaheenRebecca SparkesErica SpiegelBlair StevensMatthew R StoneJulia TagoeJoseph V ThakuriaBregje W van BonJiddeke van de KampIneke van Der BurgtTon van EssenConny M van Ravenswaaij-ArtsMarkus J van RoosmalenSarah VergultCatharina ML Volker-TouwDorothy P WarburtonMatthew J WatermanSusan WileyAnna WilsonMaria de la Concepcion A. Yerena-de VegaRoberto T ZoriBrynn LevyHan G BrunnerNicole de LeeuwWigard P KloostermanErik C ThorlandCynthia C MortonJames F GusellaMichael E Talkowski

A1 Journal Article in NATURE GENETICS

2016

Arterial tortuosity syndrome : 29 novel families

Aude BeyensJuliette AlbuissonT BusaN CanhamJM CM. DasoukiK DevriendtH DietzBjörn Fischer-ZirnsakAlper GezdiriciF GiulianoM GuitartMZ HaiderJ HardinH MichaelX JeunemaitreUwe KornakMF LandechoS LyonnetS MohammedS NampoothiriK PichlerK PrescottM RamosM RossiM SalihMZ Seid AhmedE SchaeferE Steichen-GersdorfLionel Van MalderghemDavid WarnerM ZaiderAnne De PaepeLaura Muiño MosqueraJulie De BackerAndy WillaertAnnekatrien BoelPaul CouckeAndrea TaylorElaine C DavisYuri ZarateBert Callewaert

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

Congenital contractural arachnodactyly

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI DaliS LynchE BlairA CollinsV LaitinenE ThomasA MaleI Stolte-DijkstraK KeymolenL CherylD YadavF MckenzieS BerlandP WillemsA TopaF PetitA DestreeJulie De BackerPaul CouckeAnne De PaepeSofie SymoensBert Callewaert

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI DaliS LynchE BlairA CollinsV LaitinenE ThomasA MaleI Stolte-DijstraK KeymolenL CherylD YadavF MckenzieS BerlandP WillemsA TopaF PetitA DestreeJulie De BackerPaul CouckeAnne De PaepeSofie SymoensBert Callewaert

Congenital contractural arachnodactyly: delineation of clinical criteria and confirmation of genetic heterogeneity

Ilse MeerschautBert Callewaert

Delayed adrenarche may be an additional feature of immunoglobulin super family member 1 deficiency syndrome

Severine Van HulleMargarita CraenBert CallewaertSjoerd JoustraWilma OostdijkMonique LosekootJan Maarten WitMarc Olivier TurgeonDaniel J BernardJean De Schepper

A1 Journal Article in JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY

FOXP1-related intellectual disability syndrome : a recognizable entity

Ilse MeerschautJ PètreN RevencuNELE BOCKAERTAnn OostraOlivier VanakkerM VelinovTJ de RavelD MekahliKK VauxJ SebatFF HamdanJL MichaudP LapunzinaN Di DonatoL HudginsAK Hanson-KahnB DallapiccolaA NovelliJ AndrieuxJ MortonN RaggeJ RadleyMJ ParkerK NeasAnnelies DheedeneBjörn MentenD LedererBert Callewaert

FOXP1-related intellectual disability syndrome: a recognizable entity

Ilse MeerschautJustine PètreNicole RevencuDamien LedererMilen VilenovThomy de RavelDjalila MekahliKeith VauxJonathan SebatFadi HamdanJacques MichaudPablo LapunzinaNataliya Di DonatoLouanne HudginsAndrea Hanson-KahnBruno DallapiccolaAntonio NovelliJoris AndrieuxMagdalena BudisteanuBert Callewaert

FOXP1-related intellectual disability syndrome: a recognizable entity

Ilse MeerschautJustine PètreNicole RevencuDamien LedererMilen VilenovThomy de RavelDjalila MekahliKeith VauxJonathan SebatFadi HamdanJacques MichaudPablo LapunzinaNataliya Di DonatoLouanne HudginsAndrea Hanson-KahnBruno DallapiccolaAntonio NovelliJoris AndrieuxMagdalena BudisteanuBert Callewaert

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

Csilla E NémethPaola MarcolongoAlessandra GamberucciRosella FulceriAngiolo BenedettiNicoletta ZoppiMarco RitelliNicola ChiarelliMarina ColombiAndy WillaertBert CallewaertPaul CouckePál GrófSzilvia K NagyTamás MészárosGábor BánhegyiÉva Margittai

A1 Journal Article in FEBS LETTERS

IGSF1 deficiency: lessons from an extensive case series and recommendations for clinical management

SD JoustraCA HeinenN SchoenmakersM BonomiBEBP BallieuxM-O TurgeonDJ BernardE FliersASP van TrotsenburgM LosekootL PersaniJM WitNR BiermaszAM PereiraW OostdijkJ AisenbergELT van den AkkerI BergadáG BoccaD BraslavskyBert CallewaertEA CummingsMPJM CuppenM DattaniHM DomenéJC van der HeydenSeverine Van HulleMAM JacobsTP LinksL LunshofD MulFS NeijensHF PedroM SalernoJean De SchepperPG VoorhoeveAS ZidellPA van der ZwaagN Zwaveling-Soonawala

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

LTBP4-related cutis laxa

Bert CallewaertZsolt Urban

Bookchapter in Gene reviews

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

Hannah VerdinAna Fernández-MiñánSara Benito-SanzSandra JanssensBert CallewaertKathleen De WaeleJean De SchepperInge FrançoisBjörn MentenKaren HeathJosé Luis Gómez-SkarmetaElfride De Baere

Y RIN2 syndrome : expanding the clinical phenotype

Simonetta RosatoDelfien SyxIvan IvanovskiMarzia PollazzonDaniela SantodiroccoLoredana De MarcoMarina BeltramiBert CallewaertLivia GaravelliFransiska Malfait

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

2015

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

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

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

Hannah VerdinAna Fernández-MiñánSara Benito-SanzSandra JanssensBert CallewaertKATHLEEN DE WAELEJean De SchepperInge FrançoisBjörn MentenKaren E HeathJosé Luis Gómez-SkarmetaElfride De Baere

A1 Journal Article in SCIENTIFIC REPORTS

Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape

Hannah VerdinAna Fernández-MiñánSara Benito-SanzSandra JanssensBert CallewaertKathleen De WaeleJean De SchepperInge FrançoisBjörn MentenKaren HeathJosé Luis Gómez-SkarmetaElfride De Baere

Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape.

Hannah VerdinAna Fernández-MiñánSara Benito-SanzSandra JanssensBert CallewaertKathleen De WaeleJean De SchepperInge FrançoisBjörn MentenJosé Luis Gómez-SkarmetaKaren HeathElfride De Baere

Recurrent de novo mutations affecting residue Arg138 of pyrroline-5-carboxylate synthase cause a progeroid form of autosomal-dominant cutis laxa

Björn Fischer-ZirnsakNathalie Escande-BeillardJaya GaneshYu Xuan TanMohammed Al BughailiAngela E LinInderneel SahaiPaulina BahenaSara L ReichertAbigail LohGraham D WrightJaron LiuElisa RahikkalaEniko K PivnickAsim F ChoudhriUlrike KrügerTomasz ZemojtelConny van Ravenswaaij-ArtsRoya MostafaviIrene Stolte-DijkstraSofie SymoensLeila PajunenLihadh Al-GazaliDavid MeierhoferPeter N RobinsonStefan MundlosCamilo E VillarroelPeter ByersAmira MasriStephen P RobertsonUlrike SchwarzeBert CallewaertBruno ReversadeUwe Kornak

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Recurrent duplications of 17q12 associated with variable phenotypes

Elyse MitchellAndrew DouglasSusanne KjaegaardBert CallewaertArnaud VanlanderSandra JanssensAmy Lawson YuenCindy SkinnerPinella FaillaAntonino AlbertiEmanuela AvolaMarco FicheraMaria KibaekMaria C DigilioMark C HannibalNicolette S den HollanderVeronica BizzarriAlessandra RenieriMaria Antonietta MencarelliTomas FitzgeraldSerena PiazzollaElke Van OudenhoveCorrado RomanoCharles SchwartzEvan E EichlerAnne SlavotinekLuis EscobarDiana RajanJohn CrollaNigel CarterJennelle C HodgeHeather C Mefford

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Redefining the MED13L syndrome

Abidemi AdegbolaLuciana MusanteBert CallewaertPatricia MacielHao HuBertrand IsidorSylvie Picker-MinhCedric Le CaignecBarbara Delle ChiaieOlivier VanakkerBjörn MentenAnnelies DheedeneNele BockaertFilip RoelensKarin DecaesteckerJoão SilvaGabriela SoaresFátima LopesHossein NajmabadiKimia KahriziGerald F CoxSteven P AngusJohn F StaropoliUte FischerVanessa SuckowOliver BartschAndrew ChessHans-Hilger RopersThomas F WienkerChristoph HübnerAngela M KaindlVera M Kalscheuer

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: a case report suggesting a genotype-phenotype correlation

Ilse MeerschautMaria Bordon Cueto De BraemCatharina DhoogePatricia DelbekeArnaud VanlanderAmos SimonChristoph KleinR Frank KooyRaz SomechBert Callewaert

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects

Yaojuan JiaJacoba J LouwJeroen BreckpotBert CallewaertCatherine BarreaYves SznajerMarc GewilligErika SoucheLuc DehaspeJoris Robert VermeeschDiether LambrechtsKoenraad DevriendtAnniek Corveleyn

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The genetics of soft connective tissue disorders

Olivier VanakkerBert CallewaertFransiska MalfaitPaul Coucke

A1 Journal Article in Annual Review of Genomics and Human Genetics

2014

Absence of cardiovascular manifestations in a haploinsufficient TGFBR1 mouse model

Marjolijn RenardBram TrachetChristophe CasteleynLaurence CampensPieter CornillieBert CallewaertSteven DeleyeBert VandeghinstePaula van HeijningenHarry DietzFilip De VosJeroen EssersSteven StaelensPatrick SegersBart LoeysPaul CouckeAnne De PaepeJulie De Backer

A1 Journal Article in PLOS ONE

Arterial tortuosity syndrome

Bert CallewaertAnne De PaepePaul Coucke

Bookchapter in GeneReviews®

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

Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations

Paul D BradyJeroen Van HoudtBert CallewaertJan DeprestKoenraad DevriendtJoris R Vermeesch

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46, XY neonates and infants with atypical sexual development

Dorien BaetensWilhelm MladenovBARBARA DELLE CHIAIEBjörn MentenAn DesloovereVioleta IotovaBert CallewaertErik Van LaeckePiet HoebekeElfride De BaereMartine Cools

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

FLH type 5 caused by a novel mutation in STXBP2 gene : an unusual cause of failure to thrive and diarrhea in infancy

Filomeen HaerynckRuth De BruyneMelissa DullaersROSELYNE UWERABert CallewaertElfride De BaereMyriam Van WinckelStephanie Van BiervlietSebastien van de VeldeVictoria Bordon

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 PiérardPeter N RobinsonSofie SymoensLionel Van MaldergemFrançois-Guillaume Debray

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

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

Björn FischerBert CallewaertPhillipe SchroterPaul CouckeClaire SchlackClaus-Eric OttManrico MorroniWolfgang HomannStefan MundlosEva MoravaAnna FiccadentiUwe Kornak

A1 Journal Article in MOLECULAR GENETICS AND METABOLISM

Study of the regulatory landscape of SHOX in 503 LWD and ISS cases uncovers a key role of the upstream cis-regulatory element CNE-3

Hannah VerdinAna Fernández-MiñánKim De LeeneerLiza BormsSandra JanssensBert CallewaertFransiska MalfaitAriana KariminejadKathleen De WaeleInge FrançoisBjörn MentenJosé Luis Gómez-SkarmetaElfride De Baere

2013

An unusual presentation of congenital nephrotic syndrome caused by WT1 mutation

Ann RaesSOFIE MAEBEJo DehoorneBert CallewaertJohan Vande Walle

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 LeeAicha SalhiSheila UngerKetil HeimdalSalome De AlmeidaUwe KornakHarald GasparJean-Luc BressonKatrina PrescottMaria E GosendiSahar MansourGérald E PiérardSuneeta Madan-KhetarpalFrank C SciurbaSofie SymoensPaul CouckeLionel Van MaldergemZsolt UrbanAnne De Paepe

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

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 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 CavacoEva-Lena StattinConstance Schrander-StumpelPaul CouckeBart LoeysAnne De PaepeJulie De Backer

A1 Journal Article in INTERNATIONAL JOURNAL OF CARDIOLOGY

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies: expanding the phenotypes associated with EFTUD2 mutations

Claudia VoigtAndré MégarbaneKornelia NevelingJohanna Christina CzeschikBeate AlbrechtBert CallewaertFlorian von DeimlingAndreas HehrMarie Falkenberg SmelandRainer KönigAlma KuechlerCarlo MarcelisMaria PuiuWillie ReardonHilde Monica Frostad Riise StenslandBernd SchweigerMarloes SteehouwerChristopher TellerMarcel MartinSven RahmannUte HehrHan G BrunnerHermann-Josef LüdeckeDagmar Wieczorek

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

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 PaepeJulie De Backer

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 MalfaitOlivier VanakkerPaul CouckeAnne De PaepeChristine Bodemer

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

2012

A rare case of protein-loosing enteropathy and congenital lymphedema : Milroy's disease

Saskia Vande VeldeStephanie Van BiervlietMyriam Van WinckelRuth De BruyneBert Callewaert

A rare case of protein-loosing enteropathy and congenital lymphedema?

Saskia Vande VeldeStephanie Van BiervlietRuth De BruyneJelle DegraeuweBert CallewaertOlivier Van AkkerMyriam Van Winckel

A rare case of protein-loosing enteropathy and congenital lymphoedema?

Saskia Vande VeldeBert CallewaertJelle DegrauweOlivier Van AkkerRuth De BruyneStephanie Van BiervlietMyriam Van Winckel

Adults with Down syndrome: health/care considerations for health professionals

BARBARA DELLE CHIAIES Van den BraembusscheC ElsingS van den EntRoos LeroyBert CallewaertM WojciechowskiBruce PoppeG Van BuggenhoutG Van Goethem

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

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

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

Anne De PaepeBert CallewaertLaurence CampensPaul CouckeFransiska MalfaitMarjolijn RenardOlivier VanakkerJulie De BackerLaurent DemulierKatrien FrancoisThierry BovéDaniël De WolfKatya De GrooteHans De WildeJOSEPH PANZERKristof VandekerckhoveFrank VermassenIsabelle Van HerzeeleDaniel Devos

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Funding opportunities include PhD and postdoctoral fellowships and research grants for senior clinical investigators in Belgium

Jennifer TaylorOlivier GheysensAnne De PaepePaul HerijgersJohan De SutterBert CallewaertDavy Vanhoutte

Editorial material

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 PaepeZsolt Urban

A1 Journal Article in HUMAN MOLECULAR GENETICS

Gastrointestinal problems in children with Down syndrome

ELLEN MARISMyriam Van WinckelEls Van De VijverBruno HauserBert CallewaertIlse HoffmanBARBARA DELLE CHIAIE

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

Health problems in children with Down syndrome

M WojciechowskiC FranckeM KluiverT BoiyBert CallewaertBARBARA DELLE CHIAIEG DembourM De RademaekerA JansenS KenisL SevenantsG Van Buggenhout

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

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

Virgini CarmignacJulien ThevenonLesly AdèsBert CallewaertSophie JuliaChristel Thauvin-RobinetLucie GueneauJean-Benoit CourcetEstelle LopezKatherine HolmanMarjolijn RenardHenri PlauchuGhislaine PlessisJulie De BackerAnne ChildGavin ArnoLaurence DuplombPatrick CallierBeranrd AralPierre VabresNadège GigotEloisa ArbustiniMaurizia GrassoPeter RobinsonCyril GoizetClarisse BaumannMaja Di RoccoJaime Sanchez Del PozoFrédéric HuetGuillaume JondeauGwenaëlle Collod-BeroudChristophe BeroudJeanne AmielValérie Cormier-DaireJean-Baptiste RivièreCatherine BoileauAnne De PaepeLaurence Faivre

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

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

L FaivreG Collod-BeroudL AdèsE ArbustiniA ChildBert CallewaertBart LoeysC BinquetE GautierK MayerM Arslan-KirchnerM GrassoC BeroudD HamrounC Bonithon-KoppH PlauchuP RobinsonJulie De BackerPaul CouckeU FranckeO BouchotJ WolfC StheneurN HannaD DetaintAnne De PaepeC BoileauG Jondeau

A1 Journal Article in CLINICAL GENETICS

2011

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 SatoRobert P MechamBart LoeysPaul CouckeAnne De PaepeZsolt Urban

A1 Journal Article in HUMAN MUTATION

2010

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 RauchPamela TrapaneMichael EaringPaul CouckeLynn Y SakaiHarry C DietzAnne De PaepeBart Loeys

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Inherited elastinopathies: novel clinical and etiopathogenetic insights

Bert CallewaertAnne De PaepeBart Loeys

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 PaepeBart Loeys

A1 Journal Article in CLINICAL DYSMORPHOLOGY

The revised Ghent nosology for the Marfan syndrome

Bart LoeysHarry C DietzAlan C BravermanBert CallewaertJulie De BackerRichard B DevereuxYvonne Hilhorst-HofsteeGuillaume JondeauLaurence FaivreDianna M MilewiczReed E PyeritzPaul D SponsellerPaul WordsworthAnne De Paepe

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

2009

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 HuetBart LoeysEloisa ArbustiniKarin MayerMine Arslan-KirchnerAnatoli KiotsekoglouPaola ComeglioMaurizia GrassoDorothy J HallidayChristophe BéroudClaire Bonithon-KoppMireille ClaustresPeter RobinsonLesley AdèsJulie De BackerPaul CouckeUta FranckeAnne De PaepeCatherine BoileauGuillaume Jondeau

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-KirchnerC StheneurA KiotsekoglouP ComeglioN MarzilianoJE WolfO BouchotP Khau-Van-KienC BeroudM ClaustresC Bonithon-KoppPN RobinsonL AdesJulie De BackerPaul CouckeU FranckeAnne De PaepeG JondeauC Boileau

A1 Journal Article in European Journal of Human Genetics

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 BouteFrancisco GalánHelen KingstonNathalie Van der AaIratxe SalcedoMarielle E SwinkelsCarina Wallgren-PetterssonOrazio GabreilliJulie De BackerPaul CouckeAnne De Paepe

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-KirchnerA KiotsekoglouP ComeglioM GrassoC BeroudC Bonithon-KoppM ClaustresC StheneurO BouchotJ WolfP RobinsonL AdesJulie De BackerPaul CouckeU FranckeAnne De PaepeC BoileauG Jondeau

A1 Journal Article in American Journal of Medical Genetics Part A

Unusual 8p inverted duplication deletion with telomere capture from 8q

Karen BuysseF AntonacciBert CallewaertBart LoeysUlrike FränkelVictoria SiuGeert MortierFranki SpelemanBjörn Menten

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

2008

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 PYERITZON KROGMANNG GILLESSEN-KAESBACHEL WAKELINGS NIK-ZAINALC FRANCANNETP MAURANC BOOTHM BARROWRENEE DEKENSBart LoeysPaul CouckeAnne De Paepe

A1 Journal Article in HUMAN MUTATION

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-KirchnerC StheneurA KiotsekoglouP ComeglioN MarzilianoD HallidayC BeroudC Bonithon-KoppM ClaustresH PlauchuPN RobinsonL AdèsJulie De BackerPaul CouckeU FranckeAnne De PaepeC BoileauG Jondeau

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

Ehlers-Danios syndromes and Marfan syndrome

Bert CallewaertFransiska MalfaitBart LoeysAnne De Paepe

A1 Journal Article in BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY

Fortschritt in der Pathogenese des Marfan-Syndroms und verwandter Krankheiten

Bert CallewaertAnne De Paepe

A1 Journal Article in MEDIZINISCHE GENETIK

2007

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-KirchnerA KiotsekoglouP ComeglioN MarzilianoHC DietzD HallidayC BeroudC Bonithon-KoppM ClaustresC MutiH PlauchuPN RobinsonLC AdesA BigginB BenettsM BrettKJ HolmanJulie De BackerPaul CouckeU FranckeAnne De PaepeG JondeauC Boileau

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

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

Bert CallewaertAnne De PaepeBart Loeys

A2 Journal Article in Current Cardiovascular Risk Reports

2006

Aneurysm syndromes caused by mutations in the TGF-beta receptor

Bart LoeysU SCHWARZET HOLMBert CallewaertGH THOMASH PANNUJulie De BackerGL OSWALDS SYMOENSS MANOUVRIERAE ROBERTSF FARAVELLIMA GRECORE PYERITZDM MILEWICZPaul CouckeDE CAMERONAC BRAVERMANPH BYERSAnne De PaepeHC DIETZ

A1 Journal Article in NEW ENGLAND JOURNAL OF 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 GARDELLAF FACCHETTIPJ WILLEMSR FORSYTHHC DIETZS BARLATIM COLOMBIBart LoeysAnne De Paepe

A1 Journal Article in NATURE GENETICS

2004

Proteinase inhibitors TPCK and TLCK prevent Entamoeba histolytica induced disturbance of tight junctions and microvilli in enteric cell layers in vitro

Tineke LauwaetMaria José OliveiraBert CallewaertGeorges De BruyneMARCUS MAREELAncy Leroy

A1 Journal Article in INTERNATIONAL JOURNAL FOR PARASITOLOGY

2003

Proteolysis of enteric cell villin by Entamoeba histolytica cysteine proteinases

Tineke LauwaetMaria José OliveiraBert CallewaertGeorges De BruyneXavier SaelensSerge AnkriPeter VandenabeeleDavid MirelmanMarcus MareelAncy Leroy

A1 Journal Article in JOURNAL OF BIOLOGICAL CHEMISTRY