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

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder

Maria del Rocio Pérez BacaMaría Palomares-BraloMichiel VanhooydonckLisa HamerlinckEva D'haeneSebastian LeimbacherEva JacobsLaurenz De CockErika D'haenensAnnelies DheedeneZoë MalfaitLies VantommeAnanilia SilvaKathleen RooneyXiaonan ZhaoAmir Hossein SaeidianNichole Marie OwenFernando Santos-SimarroRoser Lleuger-PujolSixto García-MiñaúrItsaso Losantos-GarcíaBjörn MentenGaia GestriNicola RaggeAbbey ScottAlejandro IglesiasAllyn McConkie-RosellAmy KritzerAna BotoAndi M. LewisAndreas TzschachAnnarita NicosiaAnne O’Donnell-LuriaAngela PeronAnn-Charlotte ThuressonAnneke Vulto-van-SilfhoutAntonio NovelliAstrid S. PlompBalram GangaramBelén Gil-FournierBoris KerenCasie GenettiChiara De LucaChristian P. SchaafClaire BeneteauDaniela GrazianiDaryl A. ScottDavid A. KoolenDavid GeneviéveDorine BaxElizabeth J. LeslieElizabeth MizerikElizabeth RoederEmily MagnessEsther NibbelingGaetan LescaGöran AnnerénGregory M. EnnsHilde Van EschHimanshu GoelInés QuintelaJan CobbenJennifer L. MorrisonJesus EirisJoan StolerJosephine GaoKatharina SteindlKatrina DippleKonstantinos KolokotronisLaurie H. SeaverLynda PollackMahdi MotazackerManuela GasparriMargje SinnemaMaria Cristina DigilioMarie T. McDonaldMarisol Ibarra RamírezMartine Doco-FenzyMarzena KucharczykMathilde NizonMegan BootheMelanie C. O'LearyMelissa T. CarterMeredith RossMeredith WilsonMerel KlaassensMonia GinevrinoMonica Hsiung WojcikNathaniel RobinNicolas ChatronOdile BoutePankaj AgrawalPaolo FontanaPaolo ZanoniPascal JosetPernille M. TorringPing Yee Billie AuServi StevensSoraya Ramiro LeónStephanie BaskinStephanie Parker DiTroiaSue-Faye SiowTanguy DemaretVasilica PlaiasuVirginia ClowesXi LuoYvonne Hilhorst-HofsteeBekim SadikovicElke BogaertKris VleminckxThomas NaertDelfien SyxBert CallewaertSarah Vergult[missing] ZFHX4 consortium et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

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.

A1 Journal Article in JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Non-coding structural variants identify a commonly affected regulatory region steering FOXG1 transcription in early neurodevelopment

Lisa HamerlinckEva D'haeneNore Van LoonMichael B VaughanMaria del Rocio Pérez BacaSebastian LeimbacherLara ColomboLies VantommeEsperanza DaalAnnelies DheedeneHimanshu GoelBjörn MentenBert CallewaertSarah Vergult et al.

Early mechanisms of aortic failure in a zebrafish model for thoracic aortic dissection and rupture

Michiel VanhooydonckMaxim VerleeMarta Guerreiro Santana Ramos Da SilvaLore PottieAnnekatrien BoelMatthias Van ImpeHanna De SaffelLisa CaboorPiyanoot TapaneeyaphanAnne BonninPatrick SegersAdelbert De ClercqAndy WillaertDelfien SyxPatrick SipsBert Callewaert et al.

Early mechanisms of aortic failure in a zebrafish model for thoracic aortic dissection and rupture

Michiel VanhooydonckMaxim VerleeMarta Guerreiro Santana Ramos Da SilvaLore PottieAnnekatrien BoelMatthias Van ImpeHanna De SaffelLisa CaboorPiyanoot TapaneeyaphanAnne BonninPatrick SegersAdelbert De ClercqAndy WillaertDelfien SyxPatrick SipsBert Callewaert et al.

Knock-in of disease-related variants in the zebrafish model organism

Michiel VanhooydonckElyne De NeefHanna De SaffelAnnekatrien BoelKathleen ClaesAndy WillaertBert Callewaert

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

Clinical impact of RNA-sequencing in diagnostics

Laurenz De CockErika D'haenensSarah VergultLies VantommeAnnelies DheedeneRobin de PutterTim Van DammeJo SourbronBert CallewaertOlivier VanakkerBjörn Menten et al.

New insights into the structural role of EMILINs within the human skin microenvironment

Alvise SchiavinatoFady MarcousAlexandra V. ZukDouglas R. KeeneSara F. TufaLaura Muiño MosqueraPaola ZigrinoCornelia MauchBeate EckesKatrien FrancoisJulie De BackerNicolas HunzelmannPia MoinzadehThomas KriegBert CallewaertGerhard Sengle et al.

A1 Journal Article in SCIENTIFIC REPORTS

Mitral annular disjunction in heritable thoracic aortic disease : insights from the Montalcino Aortic Consortium

Kishan L AsokanJennifer R LandesWannes RendersLaura Muiño MosqueraJulie De BackerDavid W JantzenAnji T YetmanGisela Teixido-TuraArturo EvangelistaRichmond JeremyEdward G JonesShaine MorrisTam DoanMaral OuzonianAlan BravermanGuillaume JondeauOlivier MilleronDianna M MilewiczSiddharth K PrakashAnne De PaepeBert CallewaertMarjolijn RenardPatrick Sips[missing] Montalcino Aortic Consortium et al.

A1 Journal Article in JOURNAL OF THE AMERICAN HEART ASSOCIATION

Familial chylomicronemia syndrome : a novel mutation in the lipoprotein lipase gene

Stephanie Van BiervlietSaskia Vande VeldePauline De BruyneBert CallewaertPATRICK VERLOORuth De Bruyne

A1 Journal Article in ACTA GASTRO-ENTEROLOGICA BELGICA

Prime editing outperforms optimized homology-directed repair as a tool for knock-in generation in zebrafish

Elyne De NeefMichiel VanhooydonckHanna De SaffelAnne VralAndy WillaertBert CallewaertKathleen Claes

Prime editing outperforms optimized homology-directed repair as a tool for knock-in generation in zebrafish

Elyne De NeefMichiel VanhooydonckKathleen ClaesBert CallewaertHanna De SaffelBéatrice LintermansAndy WillaertAnne Vral

ClinGen Hereditary hereditary cardiovascular disease gene curation expert panel : reappraisal of genes associated with hypertrophic cardiomyopathy

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

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder

Maria del Rocio Pérez BacaMaría Palomares BraloMichiel VanhooydonckLisa HamerlinckEva D'haeneSebastian LeimbacherEva JacobsLaurenz De CockErika D'haenensAnnelies DheedeneZoë MalfaitLies VantommeAnanilia SilvaKathleen RooneyFernando Santos-SimarroRoser Lleuger-PujolSixto García-MiñaúrItsaso Losantos-GarcíaBjörn MentenGaia GestriNicola RaggeBekim SadikovicElke BogaertDelfien SyxBert CallewaertSarah VergultZFHX4 Consortium et al.

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder

Maria del Rocio Pérez BacaMaria Palomares BraloMichiel VanhooydonckLisa HamerlinckEva D'haeneSebastian LeimbacherEva JacobsLaurenz De CockErika D'haenensZoë MalfaitLies VantommeFernando Santos-SimarroRoser Lleuger-PujolSixto García-MiñaúrItsaso Losantos-GarcíaBjörn MentenAnanilia SilvaKathleen RooneyNicky RaggeZFHX4 consortiumBekim SadikovicBart DermautElke BogaertDelfien SyxSarah VergultBert Callewaert et al.

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene causes a novel neurodevelopmental disorder

Maria del Rocio Pérez BacaMaria PalomaresMichiel VanhooydonckEva D'haeneEva Z. JacobsLies VantommeFernando Santos-SimarroRoser Lleuger-PujolSixto García-MiñaúrItsaso Losantos-GarcíaBjörn MentenSeyyedeh Sadegheh HaghshenasMichael A. LevyJennifer KerkhofHaley McConkeyZFHX4 consortiumBekim SadikovicBart DermautElke BogaertSarah VergultBert Callewaert et al.

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene causes a novel neurodevelopmental disorder

Maria del Rocio Pérez BacaMaria PalomaresMichiel VanhooydonckEva D'haeneEva JacobsLies VantommeFernando Santos-SimarroRoser Lleuger-PujolSixto García-MiñáurItsaso Losantos-GarcíaBjörn MentenSeyyedeh Sadegheh HaghshenasMichael A. LevyJennifer KerkhofHaley McConkeyBekim SadikovicBart DermautElke BogaertSarah VergultBert CallewaertZFHX4 Consortium et al.

Structural variants disrupt a critical regulatory region downstream of FOXG1

Lisa HamerlinckEva D'haeneNore Van LoonMaria del Rocio Pérez BacaSarah VergultBert CallewaertElfride De BaereBjörn MentenLies VantommeMichael B Vaughan

An unexpected high prevalence of Focal Facial Dermal Dysplasia (FFDD) type IV is linked to a founder effect in the Belgian population

Karolien AelbrechtAude BeyensSofie De MeulemeesterKoen DevriendtMarleen GoeteynFrank KooyEvelyn MeulewaeterSofie SymoensBert Callewaert

Advances in CRISPR-mediated knock-in of disease-related variants in zebrafish

Elyne De NeefMichiel VanhooydonckHanna De SaffelBéatrice LintermansAndy WillaertBert CallewaertAnne VralKathleen Claes

Advances in CRISPR-mediated knock-in of disease- and cancer-related variants in zebrafish

Elyne De NeefMichiel VanhooydonckHanna De SaffelBéatrice LintermansAndy WillaertBert CallewaertAnne VralKathleen Claes

De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity

Marine TessarechGaëlle FriocourtFlorent MarguetMaryline LecointreMorgane Le MaoRodrigo Muñoz DíazCyril MignotBoris KerenBénédicte HéronCharlotte De BieKoen Van GassenDidier LoiselBenoit DelormeSteffen SyrbeAnnick Klabunde-CherwonRami Abou JamraMeret WeglerBert CallewaertAnnelies DheedeneMerzouka Zidannes-MarinnesAgnès GuichetCéline BrisPatrick Van BogaertFlorence BiquardGuy LenaersPascale MarcorellesClaude FerecBruno GonzalezVincent ProcaccioAntonio VitobelloDominique BonneauAnnie LaquerriereSalim KhiatiEstelle Colin et al.

A1 Journal Article in GENETICS IN MEDICINE

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

SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome

Aamuktha R. KarlaAmelie PinardMaura L. BoerioDimitri HemelsoetSimon TavernierMichel De PauwElke VereeckeStuart FraserMichael J. BamshadDongchuan GuoBert CallewaertDianna M. Milewicz et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome) : genotype and phenotype of 22 patients with ZNF148 mutations

Katalin SzakszonCharles Marques LourencoBert CallewaertDavid GenevieveFlavien RouxelDenis MorinAnne-Sophie Denomme-PichonAntonio VitobelloWesley PattersonRaymond LouieFilippo VairoEric KleeCharu KaiwarRalitza H. GavrilovaKatherine E. AgreSebastien JacquemontJizi KhadijeJacques GiltayKoen van GassenGabriella MeroErica GerkesBregje W. Van BonTuula RinneRolph PfundtHan G. BrunnerOana CaluseriuUte GrasshoffMartin KehrerTobias B. HaackMelik Malek KhelifaAnke Katharina BergmannAnna Maria Cueto-GonzalezAriadna Campos MartorellShwetha RamachandrappaLindsey B. SawyerPascale FaselDominique BraunAtallah IsisAndrea Superti-FurgaVanda McNivenDavid ChitayatSyed Anas AhmedHeiko BrennenstuhlEva M. C. SchwaibolfGladys BattistiBenoit ParmentierServi J. C. Stevens et al.

A1 Journal Article in JOURNAL OF MEDICAL 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

Structural variants disrupt a critical regulatory region downstream of FOXG1

Lisa HamerlinckEva D'haeneMichael B VaughanMaria del Rocio Pérez BacaNore Van LoonLies VantommeBjörn MentenBert CallewaertElfride De BaereSarah Vergult

Structural variants disrupt a critical regulatory region downstream of FOXG1

Lisa HamerlinckEva D'haeneSarah VergultNore Van LoonMaria del Rocio Pérez BacaLies VantommeMichael B VaughanElfride De BaereBert CallewaertBjörn Menten

Structural variants disrupt a critical regulatory region downstream of FOXG1

Lisa HamerlinckEva D'haeneMaria del Rocio Pérez BacaLies VantommeNore Van LoonBjörn MentenBert CallewaertElfride De BaereSarah Vergult

Inherited pathogenic variants in neurodevelopmental disorders : a potential pitfall in triobased analysis of clinical exomes

Annelies DheedeneErika D'haenensEvelien PouillieSarah DelbaereOlivier VanakkerBert CallewaertBjörn Menten

Valuable insights after one year whole exome sequencing in a fetal/prenatal setting

Sarah DelbaereMachteld BaetensCandy KumpsEllen RoetsNoortje Van OostrumBert CallewaertSandra JanssensOlivier VanakkerBjörn Menten

Long-read sequencing and optical genome mapping enable full characterization of previously unresolved structural variation

Griet De ClercqLies VantommeBert CallewaertSarah VergultWouter De CosterMojca StrazisarTim De PooterBarbara DewaeleJoris VermeeschAnnelies DheedeneBjörn Menten et al.

Long-read sequencing and optical genome mapping enable full characterization of previously unresolved structural variation

Griet De ClercqLies VantommeBert CallewaertBarbara DewaeleJoris VermeeschAnnelies DheedeneBjörn Menten

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

Griet De ClercqLies VantommeBert CallewaertSarah VergultAnnelies DheedeneBjörn Menten

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

Griet De ClercqLies VantommeBert CallewaertSarah VergultAnnelies DheedeneBjörn Menten

Long-read sequencing enables full characterization of previously unresolved structural variation

Griet De ClercqLies VantommeBert CallewaertAnnelies DheedeneBjörn Menten

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

Griet De ClercqLies VantommeBert CallewaertSarah VergultAnnelies DheedeneBjörn Menten

Structural variants disrupt a critical regulatory region downstream of FOXG1

Eva D'haeneLies VantommeBjörn MentenBert CallewaertElfride De BaereSarah Vergult

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

Ligneous conjunctivitis mimicking preseptal cellulitis in a 3-month-old infant

Valentien MerlevedeVirginie NinclausDimitri RoelsLiesbeth HuysBert CallewaertElke O. Kreps

A1 Journal Article in OPHTHALMIC GENETICS

Regulatory landscaping : towards improved genetic diagnosis and therapy for SATB2-associated syndrome

Lisa HamerlinckLies VantommeEva D'haeneSarah VergultBert Callewaert

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. BhatiaTatjana BierhalsChristian M. BosselmannJulien BurattiBert CallewaertBerten CeulemansPerrine CharlesMatthias De WachterMohammadreza DehghaniErika D'haenensMartine Doco-FenzyMichaela GessnerCyrielle GobertUlviyya GuliyevaTobias B. HaackTrine B. HammerTilman HeinrichMaja HempelTheresia HergetUte HoffmannJudit HorvathHenry HouldenBoris KerenChristina KresgeCandy KumpsDamien LedererAlban LermineFrancesca MagrinelliReza MaroofianMohammad Yahya Vahidi MehrjardiMahdiyeh MoudiAmelie J. MuellerAnna OostraBeth A. PletcherDavid Ros-PardoShanika SamarasekeraMarco TartagliaKristof Van SchilJulie VogtEvangeline WassmerJuliane WinkelmannMaha S. ZakiMichael ZechHolger LercheFrancesca Clementina RadioPaulino Gomez-PuertasRikke S. MollerZeynep Tuemer et al.

A1 Journal Article in CLINICAL GENETICS

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

Griet De ClercqLies VantommeBert CallewaertSarah VergultAnnelies DheedeneBjörn Menten

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

Marcello ScalaMasashi NishikawaHidenori ItoHidenori TabataTayyaba KhanAndrea AccogliLaura DavidsAnna RuizPietro ChiurazziGabriella CericolaBjörn SchulteKristin G MonaghanAmber BegtrupAnnalaura TorellaMichele PinelliAnne Sophie Denommé-PichonAntonio VitobelloCaroline RacineMaria Margherita MancardiCourtney KissAndrea GuerinWendy WuElisabeth Gabau VilaBryan C MakJulian A Martinez-AgostoMichael B GorinBugrahan DuzYavuz BayramClaudia M B CarvalhoJaime E VengoecheaDavid ChitayatTiong Yang TanBert CallewaertBernd KruseLynne M BirdLaurence FaivreMarcella ZollinoSaskia BiskupPasquale StrianoVincenzo NigroMariasavina SeverinoValeria CapraGregory CostainKoh ichi Nagata[missing] Undiagnosed Diseases Network[missing] Telethon Undiagnosed Diseases Program et al.

A1 Journal Article in BRAIN

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

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 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 et al.

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 MooreMichael YoongFiona ChatterjeeNeeti Ghali et al.

A1 Journal Article in CLINICAL DYSMORPHOLOGY

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

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 HolderHenrietta LefroyBruce CastleLinda M. ReisV. Elena SeminaKatherine LachlanKate ChandlerThomas WrightJill Clayton-SmithFranziska Phan HugNelly PitteloudLucia BartoloniSabine HoffjanSoo-Mi ParkAjay ThankamonyMelissa LeesEmma WakelingSwati NaikBritta HankerKatta M. GirishaEmanuele AgoliniZampino GiuseppeZiegler AlbanMarine TessarechZiegler Boris KerenAlexandra AfenjarChristiane ZweierAndre ReisThomas SmolYoshinori TsurusakiOkamoto NobuhikoFutoshi SekiguchiNaomi TsuchidaNaomichi MatsumotoIkuyo KouYoshiro YonezawaShiro IkegawaBert CallewaertMegan FreethLotte KleinendorstAlan DonaldsonMarielle AldersAnne De PaepeBekim SadikovicAlisdair McNeill et al.

A1 Journal Article in GENETICS IN MEDICINE

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 KerkhofHaley McConkeyBekim SadikovicZFHX3 ConsortiumBjörn MentenBo YuanSarah VergultBert Callewaert 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

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 VankwikelbergeSofie De SchepperMarleen GoeteynPatricia DelbekeBert Callewaert et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

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 et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

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 et al.

A1 Journal Article in HUMAN MUTATION

Transglutaminase mediated asprosin oligomerization allows its tissue storage as fibers

Yousef AT MorcosGalyna PryymachukSteffen LuetkeAntje GerkenAlan R. F. GodwinThomas A. JowittNadin PiekarekThorben HoffmannAnja NiefhoffMargarete OdenthalUta DrebberOlaf GriskYury LadilovWilhelm BlochBert CallewaertMats PaulssonEva Hucklenbruch-RotherClair BaldockGerhard Sengle et al.

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 et al.

A1 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

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

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 BrunoMatthew J. GillespieAaron T. DorfmanAdda GrimbergMark E. LindsayAngela E. Lin et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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 et al.

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

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

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

Marlies ColmanMachteld BaetensOlivier VanakkerBert CallewaertDelfien SyxFransiska Malfait

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

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 et al.

A1 Journal Article in CLINICAL GENETICS

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 et al.

A1 Journal Article in JOURNAL OF EXPERIMENTAL MEDICINE

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 et al.

Structural variants disrupt a critical regulatory region downstream of FOXG1

Eva D'haeneLies VantommeBjörn MentenBert CallewaertElfride De BaereSarah Vergult

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 et al.

A1 Journal Article in GENES

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

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 DheedeneTine Duelund HjortshøjMaria LasconeKatrin HoffmannBertrand IsidorJulie JonesJürgen KohlhaseCedric Le CaignecAlysia LovgrenMike LyonsPhilippe LysyCarlo MarcelisSandra MercieArnaud MolinMathilde NizonMelanie O'LearyMaria PalomaresRolph PfundtKara RanguinNicole RevencuLindsay RhodesFernando Santos SimmaroEllie SeabyRuth ShefferLot Snijders BlokKristina SorensensZornitza StarkRadka StoevaChloe StutterdPernille TorringPablo Villavicencio-LoriniMarie VincentDorothea WandBjörn MentenBert CallewaertSarah Vergult et al.

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 et al.

A1 Journal Article in CLINICAL 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

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 et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

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 et al.

A1 Journal Article in CLINICAL GENETICS

Arterial tortuosity syndrome : an ascorbate compartmentalization disorder?

Annekatrien BoelKrisztina VeszelyiCsilla E. NemethAude BeyensAndy WillaertPaul CouckeBert CallewaertEva Margittai

A1 Journal Article in ANTIOXIDANTS & REDOX SIGNALING

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 et al.

A1 Journal Article in GENOME MEDICINE

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

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 et al.

A1 Journal Article in HUMAN 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 et al.

A1 Journal Article in GENETICS IN 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 et al.

A1 Journal Article in CLINICAL GENETICS

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 et al.

A1 Journal Article in CLINICAL GENETICS

Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology

Aude BeyensAnnekatrien BoelSofie SymoensBert Callewaert

A1 Journal Article in CLINICAL GENETICS

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 et al.

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 et al.

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 et al.

A1 Journal Article in HUMAN MUTATION

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 et al.

A1 Journal Article in EPILEPSIA

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 et al.

A1 Journal Article in CLINICAL 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 et al.

A1 Journal Article in JOURNAL OF INHERITED METABOLIC DISEASE

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

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 et al.

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Genética en la cardiopatía congénita : ¿estamos preparados?

Julie De BackerBert CallewaertLaura Muiño Mosquera

A1 Journal Article in REVISTA ESPANOLA DE CARDIOLOGIA

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 et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

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.)

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 et al.

A1 Journal Article in SCIENCE ADVANCES

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 et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

Mutations in LTBP1 cause autosomal recessive cutis laxa syndrome

Lore PottieAlper GezdiriciChristin AdamoWilliam NewmanAude BeyensRiet De RyckeAdelbert De ClercqPatrick SipsGerhard SengleBert 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 et al.

A1 Journal Article in HUMAN MUTATION