Research Explorer

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Project

Study of the molecular background and pathophysiology of monogenic disorders with structural cardiovasuclar anomalies

Outputs and Outcomes

Publications

Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders

Eva BergerRobin-Tobias JaussJudith D. RanellsEmir ZonicLydia von WintzingerodeAshley WilsonJohannes WagnerAnnabelle TuttleAmanda Thomas-WilsonBjörn SchulteRachel RabinJohn PappasJacqueline A. OdgisOsama MuthaffarAlejandra Mendez-FadolMatthew LynchJonathan LevyDaphné LehalleNicole J. LakeIlona KreyMariya KozenkoEllen KnierimGuillaume JouretVaidehi JobanputraBertrand IsidorDavid HuntTzung-Chien HsiehAlexander M. HoltzTobias B. HaackNina B. GoldDésirée DunstheimerMylène DongeWallid DebKatlin A. De La Rosa PouerietMagdalena DanyelJohn ChristodoulouSaurabh ChopraBert CallewaertAndreas BuscheLauren BrickBary G. BigayMarie ArltSwathi S. AnikarMohammad N. AlmohammalDeanna AlmanzaAmal AlhashemAida Bertoli-AvellaHeinrich StichtRami Abou Jamra et al.

A1 Journal Article in GENETICS IN MEDICINE

Retrospective analysis of virtual gene panel analysis for genodermatoses reveals a high diagnostic yield in clinical practice

Aude BeyensJozefien WeytensLore PottieSofie De MeulemeesterKarolien AelbrechtSilke De FeyterSofie De SchepperEline Van HolmSofie SymoensBert Callewaert

A1 Journal Article in JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Ocular manifestations in congenital cutis laxa : a case series

Arnaud Van SlyckenAude BeyensBert CallewaertElke O. Kreps

A1 Journal Article in CORNEA

Unraveling the genetic landscape of foot arch morphology : a systematic review of single nucleotide polymorphisms

Yukun HeMarlies VerleyenBert CallewaertArne BurssensEmmanuel Audenaert

A1 Journal Article in CLINICAL GENETICS

Unexpected high prevalence of focal facial dermal dysplasia (FFDD) type IV is linked to a founder effect in the Belgian population

Aude BeyensStefanie van de VoordeMarta Guerreiro Santano Ramos Da SilvaSofie De MeulemeesterKoen DevriendtMarleen GoeteynSandra JanssensR. Frank KooyToon RosseelSofie SymoensFrederik Jan HesKathelijn KeymolenBoyan DimitrovBert Callewaert et al.

A1 Journal Article in CLINICAL GENETICS

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

Pascale SabehSamantha A. DumasClaudia MaiosHiba DagharMarek KorzeniowskiJustine RousseauMatthew LinesAndrea GuerinJohn J. MillichapMegan LandsverkTheresa GrebeKristin LindstromJonathan StroberTarik Ait MouhoubChristiane ZweierMichelle SteinrathsMoritz HebebrandBert CallewaertRami Abou JamraMonika Kautza-LuchtMeret WeglerPaul KruszkaCandy KumpsEhud BanneMarta Biderman WaberskiAnne DieuxSarah RaibleIan KrantzLivija MedneKieran PechterLaurent VillardRenzo GuerriniClaudia BianchiniCarmen BarbaDavide MeiXavier BlancChristine KallayEmmanuelle RanzaXiao-Ru YangEmily O'HeirKirsten A. DonaldSerini MurugasenZandre BruwerMuge CalikogluJennifer M. MathewsMarion Lesieur-SebellinGenevieve BaujatNicolas DeriveTyler Mark PiersonJill R. MurrellAmelle ShillingtonClothilde OrmieresSophie RondeauAndre ReisAlberto Fernandez-JaenPing Yee Billie AuDavid A. SweetserLauren C. BriereNathalie CouqueLaurence PerrinJennifer SchymickPaul GueguenMathilde LefebvreMichael Van AndelJane JuusolaStylianos E. AntonarakisEthud BanneJ. Alex ParkerBarrington G. BurnettPhilippe M. Campeau et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Genes associated with hypertrophic cardiomyopathy : a reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel

Sophie HespeAmber WaddellBabken AsatryanEmma OwensCourtney ThaxtonMhy-Lanie AdduruKailyn AndersonEmily E. BrownLily Hoffman-AndrewsElizabeth JordanKatherine JosephsMegan MayersStacey PetersFergus StaffordRichard D. BagnallLucas BronickiBert CallewaertC. Anwar A. ChahalCynthia A. JamesOlga JarinovaAndrew P. LandstromElizabeth M. McNallyBrittney MurrayLaura Muiño MosqueraVictoria ParikhChloe ReuterRoddy WalshBess WayburnJames S. WareJodie Ingles et al.

U Journal Article in JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A genotype/phenotype study of KDM5B-associated disorders suggests a pathogenic effect of dominantly inherited missense variants

Maria Carla BorrotoCoralie MichaudChloé HudonPankaj B. AgrawalKatherine AgreCarolyn D. ApplegateAlan H. BeggsHans T. BjornssonBert CallewaertMei-Jan ChenCynthia CurryOrrin DevinskyTracy Dudding-BythKelly FaganCandice R. FinnilaRalitza GavrilovaCasie A. GenettiSusan M. HiattFriedhelm HildebrandtMonica H. WojcikTjitske KleefstraCaroline M. KolvenbachBruce R. KorfPaul KruszkaHong LiJessica LitwinJulien MarcadierKonrad PlatzerPatrick R. BlackburnMargot R. F. ReijndersHeiko ReutterIna SchanzeJoseph T. ShiehCathy A. StevensZaheer ValivullahMarie-José van den BoogaardEric W. KleePhilippe M. Campeau et al.

A1 Journal Article in GENES

A systematic review and cross-database analysis of single nucleotide polymorphisms underlying hip morphology and osteoarthritis reveals shared mechanisms

Marlies VerleyenYukun HeArne BurssensMarta Guerreiro Santana Ramos Da SilvaBert CallewaertEmmanuel Audenaert

A1 Journal Article in OSTEOARTHRITIS AND CARTILAGE

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

Maria del Rocio Pérez BacaEva JacobsLies VantommePontus LeBlancElke BogaertAnnelies DheedeneLaurenz De CockSadegheh HaghshenasAidin ForoutanMichael A LevyJennifer KerkhofHaley McConkeyChun-An ChenNurit Assia BatzirXia WangMaría PalomaresMarieke CarelsBart DermautBekim SadikovicBjörn MentenBo YuanSarah VergultBert CallewaertZFHX3 consortiumOlivier Vanakker et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Sarah E. SheppardLaura BryantRochelle N. WickramasekaraCourtney VaccaroBrynn RobertsonJodi HallgrenJason HulenCynthia J. WatsonVictor FaundesYannis DuffourdPearl LeeM. Celeste SimonXavier de la CruzNatalia PadillaMarco Flores-MendezNaiara AkizuJacqueline SmilerRenata Pellegrino Da SilvaDong LiMichael MarchAbdias Diaz-RosadoIsabella Peixoto de BarcelosZhao Xiang ChoaChin Yan LimChristele DubourgHubert JournelFlorence DemurgerMaureen MulhernCigdem AkmanNatalle LippaMarisa AndrewsDustin BaldridgeJohn ConstantinoAnita RauchArie van HaeingenIrina Snoeck-StreefPenny ChowAnne HingJohn M. GrahamMargaret AuLaurence FalvreWel ShenRong MaoJanice PalumbosDavid ViskochilWilliam GahlCynthia TifftEllen MacnamaraNatalie HauserRebecca MillerJessica MaffeoAlexandra AfenjarDiane DoummarBoris KerenPamela ArnSarah Mackllin-MantlaIlse MeerschautBert CallewaertAndre RelsChristiane ZwelerCarole BrewerAnand SaggarMarie F. SmelandAjith KumarFrances ElmslieCharu DeshpandeMathilde NizonBenjamin CogneYvette van IerlandMartina WilkeMarjon van SlegtenhorstSuzanne KoudijsJin Yun ChenDavid DredgeDanielle PlerSaskia WortmannErik-Jann KamsteegJohannes KochDevon HaynesLynda PollackHannah TitheradgeKara RanguinAnne-Sophie Denomme-PichonSacha WeberRuben Perez de la FuenteJaime Sanchez del PozoJose Miguel Lezana RosalesPascal JosetKatharina SteindlAni RauchDavide MeiFrancesco MariRenzo GuerriniJames LespinasseFrederic Tran Mau-ThenChristophe PhilippeBenjamin DauriatLaure RaymondSebastien MouttonAnna M. Cueto-GonzalezTiong Yang TanCyril MignotSarah GrottoFlorence RenaldoTheodore G. DrivasLaura HennessyAnna RaperIlaria ParentiFrank J. KaiserAlma KuechlerOyvind L. BuskLily IslamJacob A. SiedlikLindsay B. HendersonJane JuusolaRichard PersonRhonda E. SchnurAntonio VitobelloSiddharth BankaElizabeth J. BhojHolly A. F. Stessman et al.

A1 Journal Article in SCIENCE ADVANCES

Beyond gene-disease validity : capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Katherine S. JosephsAngharad M. RobertsPantazis TheotokisRoddy WalshPhilip J. OstrowskiMatthew EdwardsAndrew FlemingCourtney ThaxtonJason D. RobertsMelanie CareWojciech ZarebaArnon AdlerAmy C. SturmRafik TadrosValeria NovelliEmma OwensLucas BronickiOlga JarinovaBert CallewaertStacey PetersTom LumbersElizabeth JordanBabken AsatryanNeesha KrishnanRay E. HershbergerC. Anwar A. ChahalAndrew P. LandstromCynthia JamesElizabeth M. McnallyDaniel P. JudgePeter van TintelenArthur WildeMichael GollobJodie InglesJames S. Ware et al.

A1 Journal Article in GENOME MEDICINE

Jansen-de Vries syndrome : expansion of the PPM1D clinical and phenotypic spectrum in 34 families

Monica H. WojcikSiddharth SrivastavaPankaj B. AgrawalTugce B. BalciBert CallewaertPier Luigi CalvoDiana CarliMichelle CaudleSamantha ColaiacovoLaura CrossKalliope DemetriouKaty DrazbaMarina Dutra-ClarkeMatthew EdwardsCasie A. GenettiDorothy K. GrangeScott E. HickeyBertrand IsidorSebastien KueryHerbert M. LachmanAlinoe LavillaureixMichael J. LyonsCarlo MarcelisElysa J. MarcoJulian A. Martinez-AgostoCatherine NowakAntonio PizzolMarc PlanesEloise J. PrijolesEvelise RiberiEric T. RushBianca E. RussellRani SachdevBetsy SchmalzDeborah ShearsDavid A. StevensonKate WilsonSandra JansenBert B. A. de VriesCynthia J. Curry et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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 VandekerckhoveLara MoonsPetra VermassenSofie SymoensPaul CouckeDaniël De WolfBert Callewaert et al.

A1 Journal Article in GENES

LTBP1 promotes fibrillin incorporation into the extracellular matrix

Matthias PrzyklenkVeronika S. GeorgievaFabian MetzenSebastian MostertBirgit KobbeBert CallewaertGerhard SengleBent BrachvogelRobert P. MechamMats PaulssonRaimund WagenerManuel KochAlvise Schiavinato et al.

A1 Journal Article in MATRIX BIOLOGY