Research Explorer

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Researcher

Bert Callewaert

196 Results

2023

ATP7A-related copper transport disorders : a systematic review and definition of the clinical subtypes

Silke De FeyterAude BeyensBert Callewaert

A1 Journal Article in JOURNAL OF INHERITED METABOLIC DISEASE

2022

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

Maria del Rocio Pérez BacaEva JacobsLies VantommePontus LeBlancElke BogaertAnnelies DheedeneLaurenz De CockBart DermautAidin ForoutanJennifer Kerkhof et al.

Apoptotic enteropathy, gluten intolerance, and IBD-like inflammation associated with lipotoxicity in DGAT1 deficiency–related diarrhea : a case report of a 17-year-old patient and literature review

Ellen DeoletBert CallewaertJeroen GeldofStephanie Van BiervlietSaskia Vande VeldeJo Van DorpeMyriam Van WinckelAnne Hoorens

A1 Journal Article in VIRCHOWS ARCHIV

Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome

Lore PottieChristin S. AdamoAude BeyensSteffen LuetkePiyanoot TapaneeyaphanAdelbert De ClercqPhil SalmonRiet De RyckeAlper GezdiriciElif Yilmaz Gulec et al.

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Maria B. ChristensenAmanda M. LevyNazanin A. MohammadiMarcello NicetaRauan KaiyrzhanovMaria Lisa DenticiChadi Al AlamViola AlesiValerie BenoitKailash P. Bhatia et al.

A1 Journal Article in CLINICAL GENETICS

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis

Christin S. AdamoAude BeyensAlvise SchiavinatoDouglas R. KeeneSara F. TufaMatthias MorgelinJurgen BrinckmannTakako SasakiAnja NiehoffMaren Dreiner et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects

Gerarda CappuccioNicola Brunetti‐PierriPaul CliftChristopher LearnJohn C. DykesCatherine L. MercerBert CallewaertIlse MeerschautAlessandro Mauro SpinelliIrene Bruno et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Expanding the phenotype of B3GALNT2-related disorders

Erika D'haenensSarah VergultBjörn MentenAnnelies DheedeneR. Frank KooyBert Callewaert

A1 Journal Article in GENES

Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings

Charlotte PickwickBert CallewaertFleur van DijkJuliette HarrisEmma WakelingEleanor HayMildrid YeoAnupam ChakrapaniJulia BaptistaSandra Moore et al.

A1 Journal Article in CLINICAL DYSMORPHOLOGY

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

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 Marlin et al.

A1 Journal Article in HUMAN MUTATION

Identification of codon 146 KRAS variants in isolated epidermal nevus and multiple lesions in oculoectodermal syndrome : confirmation of the phenotypic continuum of mosaic RASopathies

Aude BeyensLaure DequekerHilde BremsSandra JanssensHannes SyrynAnne D’HooghePascale De PaepeLieve VanwalleghemAnnelies StockmanElena Vankwikelberge et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

LTBP1 promotes fibrillin incorporation into the extracellular matrix

Matthias PrzyklenkVeronika S. GeorgievaFabian MetzenSebastian MostertBirgit KobbeBert CallewaertGerhard SengleBent BrachvogelRobert P. MechamMats Paulsson et al.

A1 Journal Article in MATRIX BIOLOGY

LTBP4-related cutis laxa

Bert CallewaertZsolt Urban

Bookchapter in Gene reviews

Long-read sequencing resolves cryptic structural variation in patients with syndromic intellectual disability

Griet De ClercqLies VantommeBert CallewaertSarah VergultAnnelies DheedeneBjörn Menten

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 Mazzoccoli et al.

A1 Journal Article in GENETICS IN MEDICINE

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 Guyader et al.

A1 Journal Article in HUMAN GENETICS

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

Pieter RosiersA. DerouxAude BeyensBert CallewaertM.‐T. Leccia

A1 Journal Article in JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

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

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

Reem Al-JawahiriAidin ForoutanJennifer KerkhofHaley McConkeyMichael LevySadegheh HaghshenasKathleen RooneyJasmin TurnerDebbie ShearsMuriel Holder et al.

A1 Journal Article in GENETICS IN 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

Transglutaminase mediated asprosin oligomerization allows its tissue storage as fibers

Yousef AT MorcosGalyna PryymachukSteffen LuetkeAntje GerkenAlan R. F. GodwinThomas A. JowittNadin PiekarekThorben HoffmannAnja NiefhoffMargarete Odenthal et al.

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

Marcello ScalaMasashi NishikawaHidenori ItoHidenori TabataTayyaba KhanAndrea AccogliLaura DavidsAnna RuizPietro ChiurazziGabriella Cericola et al.

A1 Journal Article in BRAIN

2021

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

Maria del Rocio Pérez BacaEva JacobsLies VantommeMareike BauerMelissa BelliniClaire BeneteauNatasha BrownDavid ComanLaurenz De CockAnnelies Dheedene et al.

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

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 Gulec et al.

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 Gulec et al.

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 and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis (vol 1348, pg 273, 2021)

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 Callewaert et al.

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 Seabra et al.

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 Lebel et al.

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 Canitano et al.

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

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-Soler et al.

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 Nordenskjold et al.

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 Ek et al.

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 Callewaert et al.

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 Balasubramanian et al.

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 Burca et al.

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 Colin et al.

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 Baere et al.

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. Gangaram et al.

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

Allan BayatAlexej KnausManuela PendziwiatAlexandra AfenjarTahsin Stefan BarakatFriedrich BoschBert CallewaertPatrick CalvasBerten CeulemansNicolas Chassaing et al.

A1 Journal Article in EPILEPSIA

Mowat-Wilson syndrome : growth charts

Ivan IvanovskiOlivera DjuricSerena BroccoliStefano Giuseppe CaraffiPatrizia AccorsiMargaret P. AdamKristina AvelaMagdalena Badura-StronkaAllan BayatJill Clayton-Smith et al.

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. Lefeber et al.

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 Brandt et al.

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 Bruselles et al.

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 Vanhove et al.

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 Cox et al.

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. Köhlhase et al.

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 Harroche et al.

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 Canham et al.

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 Gilissen et al.

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 Sadedin et al.

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 Colombi et al.

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 Schepper et al.

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 Bhambhani et al.

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 Wolf et al.

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 Cannon et al.

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 Wallace et al.

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 Panzer et al.

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 Canham et al.

A1 Journal Article in GENETICS IN MEDICINE

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

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 Callewaert et al.

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 Symoens et al.

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

Elke 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 Malfait et al.

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 Adam et al.

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 Renard et al.

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. Mahesh et al.

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 Davalillo et al.

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 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.

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 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.

FOXP1-related intellectual disability syndrome : a recognisable entity

Ilse MeerschautDaniel RochefortNicole RevençuJustine PètreChristina CorselloGuy A RouleauFadi F HamdanJacques L MichaudJenny MortonJessica Radley et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

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

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

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

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 Lefeber et al.

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-Schwan et al.

A1 Journal Article in NATURE 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.

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 Baldo et al.

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 Ghoumid et al.

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 Abbott et al.

A1 Journal Article in NATURE GENETICS

2016

Arterial tortuosity syndrome : 29 novel families

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

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 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.

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 Vaux et al.

FOXP1-related intellectual disability syndrome: a recognizable entity

Ilse MeerschautJustine PètreNicole RevencuDamien LedererMilen VilenovThomy de RavelDjalila MekahliKeith VauxJonathan SebatFadi Hamdan et al.

FOXP1-related intellectual disability syndrome: a recognizable entity

Ilse MeerschautJustine PètreNicole RevencuDamien LedererMilen VilenovThomy de RavelDjalila MekahliKeith VauxJonathan SebatFadi Hamdan et al.

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

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 Losekoot et al.

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 Heath et al.

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 Heath et al.

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 Heath et al.

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-Skarmeta et al.

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 Loh et al.

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 Alberti et al.

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 Vanakker et al.

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 MeerschautVictoria Bordon MariaCatharina 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 Vermeesch et al.

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 Dietz et al.

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 ChiaeieBjörn MentenAn DesloovereVioleta IotovaBert CallewaertErik Van LaeckePiet HoebekeElfride De Baere et al.

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 Piérard et al.

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 Morava et al.

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 François et al.

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 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

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 Cavaco et al.

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 König et al.

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 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

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 ChiaeieS 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 Francois et al.

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 Paepe et al.

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 Chiaeie

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 ChiaeieG DembourM De RademaekerA JansenS Kenis et al.

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 Holman et al.

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 Mayer et al.

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 Sato et al.

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 Rauch et al.

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 Paepe et al.

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 Milewicz et al.

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 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

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

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 PYERITZ et al.

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-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

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-Kirchner et al.

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 MANOUVRIER et al.

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 GARDELLA et al.

A1 Journal Article in NATURE GENETICS

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